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2024-04-26 08:43:05, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001257137 6535 bp mRNA linear PRI 20-APR-2013
DEFINITION Homo sapiens itchy E3 ubiquitin protein ligase (ITCH), transcript
variant 1, mRNA.
ACCESSION NM_001257137
VERSION NM_001257137.1 GI:380420334
KEYWORDS RefSeq.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (bases 1 to 6535)
AUTHORS Sellebjerg,F., Krakauer,M., Khademi,M., Olsson,T. and Sorensen,P.S.
TITLE FOXP3, CBLB and ITCH gene expression and cytotoxic T lymphocyte
antigen 4 expression on CD4(+) CD25(high) T cells in multiple
sclerosis
JOURNAL Clin. Exp. Immunol. 170 (2), 149-155 (2012)
PUBMED 23039885
REMARK GeneRIF: FOXP3 mRNA expression correlated with CBLB and ITCH in MS
patients.
REFERENCE 2 (bases 1 to 6535)
AUTHORS Bellomaria,A., Barbato,G., Melino,G., Paci,M. and Melino,S.
TITLE Recognition mechanism of p63 by the E3 ligase Itch: novel strategy
in the study and inhibition of this interaction
JOURNAL Cell Cycle 11 (19), 3638-3648 (2012)
PUBMED 22935697
REMARK GeneRIF: The interaction of Itch-WW2 domain with p63, was
investigated.
Erratum:[Cell Cycle. 2013 Feb 15;12(4):705]
REFERENCE 3 (bases 1 to 6535)
AUTHORS Wei,W., Li,M., Wang,J., Nie,F. and Li,L.
TITLE The E3 ubiquitin ligase ITCH negatively regulates canonical Wnt
signaling by targeting dishevelled protein
JOURNAL Mol. Cell. Biol. 32 (19), 3903-3912 (2012)
PUBMED 22826439
REMARK GeneRIF: Overexpression of ITCH inhibited wild-type DVL2 -induced,
but not DVL2-Y568F mutant-induced, Wnt reporter activity.
REFERENCE 4 (bases 1 to 6535)
AUTHORS Wang,C., An,J., Zhang,P., Xu,C., Gao,K., Wu,D., Wang,D., Yu,H.,
Liu,J.O. and Yu,L.
TITLE The Nedd4-like ubiquitin E3 ligases target angiomotin/p130 to
ubiquitin-dependent degradation
JOURNAL Biochem. J. 444 (2), 279-289 (2012)
PUBMED 22385262
REMARK GeneRIF: Knockdown of Nedd4, Nedd4-2 and Itch causes an
accumulation of steady-state level of AMOT/p130.
REFERENCE 5 (bases 1 to 6535)
AUTHORS Lohr,N.J., Molleston,J.P., Strauss,K.A., Torres-Martinez,W.,
Sherman,E.A., Squires,R.H., Rider,N.L., Chikwava,K.R.,
Cummings,O.W., Morton,D.H. and Puffenberger,E.G.
TITLE Human ITCH E3 ubiquitin ligase deficiency causes syndromic
multisystem autoimmune disease
JOURNAL Am. J. Hum. Genet. 86 (3), 447-453 (2010)
PUBMED 20170897
REMARK GeneRIF: describe, in ten patients, identification of a mutation
resulting in truncation of ITCH. These patients not only have
multisystem autoimmune disease but also display morphologic and
developmental abnormalities.
REFERENCE 6 (bases 1 to 6535)
AUTHORS Chen,X., Wen,S., Fukuda,M.N., Gavva,N.R., Hsu,D., Akama,T.O.,
Yang-Feng,T. and Shen,C.K.
TITLE Human ITCH is a coregulator of the hematopoietic transcription
factor NF-E2
JOURNAL Genomics 73 (2), 238-241 (2001)
PUBMED 11318614
REMARK GeneRIF: gene expression regulation; coregulates hematopoietic
transcription factor NF-E2
REFERENCE 7 (bases 1 to 6535)
AUTHORS Qiu,L., Joazeiro,C., Fang,N., Wang,H.Y., Elly,C., Altman,Y.,
Fang,D., Hunter,T. and Liu,Y.C.
TITLE Recognition and ubiquitination of Notch by Itch, a hect-type E3
ubiquitin ligase
JOURNAL J. Biol. Chem. 275 (46), 35734-35737 (2000)
PUBMED 10940313
REFERENCE 8 (bases 1 to 6535)
AUTHORS Winberg,G., Matskova,L., Chen,F., Plant,P., Rotin,D., Gish,G.,
Ingham,R., Ernberg,I. and Pawson,T.
TITLE Latent membrane protein 2A of Epstein-Barr virus binds WW domain E3
protein-ubiquitin ligases that ubiquitinate B-cell tyrosine kinases
JOURNAL Mol. Cell. Biol. 20 (22), 8526-8535 (2000)
PUBMED 11046148
REFERENCE 9 (bases 1 to 6535)
AUTHORS Wood,J.D., Yuan,J., Margolis,R.L., Colomer,V., Duan,K., Kushi,J.,
Kaminsky,Z., Kleiderlein,J.J., Sharp,A.H. and Ross,C.A.
TITLE Atrophin-1, the DRPLA gene product, interacts with two families of
WW domain-containing proteins
JOURNAL Mol. Cell. Neurosci. 11 (3), 149-160 (1998)
PUBMED 9647693
REFERENCE 10 (bases 1 to 6535)
AUTHORS Perry,W.L., Hustad,C.M., Swing,D.A., O'Sullivan,T.N., Jenkins,N.A.
and Copeland,N.G.
TITLE The itchy locus encodes a novel ubiquitin protein ligase that is
disrupted in a18H mice
JOURNAL Nat. Genet. 18 (2), 143-146 (1998)
PUBMED 9462742
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from AL356299.16, AL705688.1,
BC011571.1, AL109923.29 and AA730741.1.
Summary: This gene encodes a member of the Nedd4 family of HECT
domain E3 ubiquitin ligases. HECT domain E3 ubiquitin ligases
transfer ubiquitin from E2 ubiquitin-conjugating enzymes to protein
substrates, thus targeting specific proteins for lysosomal
degradation. The encoded protein plays a role in multiple cellular
processes including erythroid and lymphoid cell differentiation and
the regulation of immune responses. Mutations in this gene are a
cause of syndromic multisystem autoimmune disease. Alternatively
spliced transcript variants encoding multiple isoforms have been
observed for this gene. [provided by RefSeq, Mar 2012].
Transcript Variant: This variant (1) represents the longest
transcript and encodes the longest isoform (1).
Sequence Note: This RefSeq record was created from transcript and
genomic sequence data to make the sequence consistent with the
reference genome assembly. The genomic coordinates used for the
transcript record were based on transcript alignments.
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the Gene
record to access additional publications.
##Evidence-Data-START##
Transcript exon combination :: BC011571.1 [ECO:0000332]
RNAseq introns :: mixed/partial sample support
ERS025095 [ECO:0000350]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-40 AL356299.16 92612-92651
41-132 AL705688.1 42-133
133-3807 BC011571.1 56-3730
3808-6275 AL109923.29 85819-88286
6276-6535 AA730741.1 7-266
FEATURES Location/Qualifiers
source 1..6535
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="20"
/map="20q11.22"
gene 1..6535
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/note="itchy E3 ubiquitin protein ligase"
/db_xref="GeneID:83737"
/db_xref="HGNC:13890"
/db_xref="MIM:606409"
exon 1..115
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/inference="alignment:Splign:1.39.8"
exon 116..192
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/inference="alignment:Splign:1.39.8"
variation 132
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="c"
/replace="t"
/db_xref="dbSNP:3746455"
variation 138
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="c"
/replace="t"
/db_xref="dbSNP:6059784"
variation 151
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="c"
/replace="t"
/db_xref="dbSNP:143842156"
variation 154
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="c"
/replace="t"
/db_xref="dbSNP:6059785"
variation 163
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:112587100"
misc_feature 181..183
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/note="upstream in-frame stop codon"
exon 193..283
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/inference="alignment:Splign:1.39.8"
CDS 214..2925
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/note="isoform 1 is encoded by transcript variant 1;
atrophin-1 interacting protein 4; NFE2-associated
polypeptide 1; dJ468O1.1 (atrophin 1 interacting protein 4
(AIP4)); itchy E3 ubiquitin protein ligase homolog"
/codon_start=1
/product="E3 ubiquitin-protein ligase Itchy homolog
isoform 1"
/protein_id="NP_001244066.1"
/db_xref="GI:380420335"
/db_xref="CCDS:CCDS58768.1"
/db_xref="GeneID:83737"
/db_xref="HGNC:13890"
/db_xref="MIM:606409"
/translation="
MSDSGSQLGSMGSLTMKSQLQITVISAKLKENKKNWFGPSPYVEVTVDGQSKKTEKCNNTNSPKWKQPLTVIVTPVSKLHFRVWSHQTLKSDVLLGTAALDIYETLKSNNMKLEEVVVTLQLGGDKEPTETIGDLSICLDGLQLESEVVTNGETTCSENGVSLCLPRLECNSAISAHCNLCLPGLSDSPISASRVAGFTGASQNDDGSRSKDETRVSTNGSDDPEDAGAGENRRVSGNNSPSLSNGGFKPSRPPRPSRPPPPTPRRPASVNGSPSATSESDGSSTGSLPPTNTNTNTSEGATSGLIIPLTISGGSGPRPLNPVTQAPLPPGWEQRVDQHGRVYYVDHVEKRTTWDRPEPLPPGWERRVDNMGRIYYVDHFTRTTTWQRPTLESVRNYEQWQLQRSQLQGAMQQFNQRFIYGNQDLFATSQSKEFDPLGPLPPGWEKRTDSNGRVYFVNHNTRITQWEDPRSQGQLNEKPLPEGWEMRFTVDGIPYFVDHNRRTTTYIDPRTGKSALDNGPQIAYVRDFKAKVQYFRFWCQQLAMPQHIKITVTRKTLFEDSFQQIMSFSPQDLRRRLWVIFPGEEGLDYGGVAREWFFLLSHEVLNPMYCLFEYAGKDNYCLQINPASYINPDHLKYFRFIGRFIAMALFHGKFIDTGFSLPFYKRILNKPVGLKDLESIDPEFYNSLIWVKENNIEECDLEMYFSVDKEILGEIKSHDLKPNGGNILVTEENKEEYIRMVAEWRLSRGVEEQTQAFFEGFNEILPQQYLQYFDAKELEVLLCGMQEIDLNDWQRHAIYRHYARTSKQIMWFWQFVKEIDNEKRMRLLQFVTGTCRLPVGGFADLMGSNGPQKFCIEKVGKENWLPRSHTCFNRLDLPPYKSYEQLKEKLLFAIEETEGFGQE
"
misc_feature 262..633
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/note="C2 domain present in E3 ubiquitin ligase; Region:
C2_E3_ubiquitin_ligase; cd04021"
/db_xref="CDD:175988"
misc_feature 1198..1290
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/note="Two conserved tryptophans domain; also known as the
WWP or rsp5 domain; around 40 amino acids; functions as an
interaction module in a diverse set of signalling
proteins; binds specific proline-rich sequences but at low
affinities compared to other...; Region: WW; cd00201"
/db_xref="CDD:29258"
misc_feature order(1240..1242,1273..1275)
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/note="binding pocket"
/db_xref="CDD:29258"
misc_feature 1294..1383
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/note="Two conserved tryptophans domain; also known as the
WWP or rsp5 domain; around 40 amino acids; functions as an
interaction module in a diverse set of signalling
proteins; binds specific proline-rich sequences but at low
affinities compared to other...; Region: WW; cd00201"
/db_xref="CDD:29258"
misc_feature order(1336..1338,1369..1371)
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/note="binding pocket"
/db_xref="CDD:29258"
misc_feature 1366..1368
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphothreonine, by SGK3; propagated from
UniProtKB/Swiss-Prot (Q96J02.2); phosphorylation site"
misc_feature 1396..1626
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q96J02.2);
Region: Required for interaction with FYN"
misc_feature 1471..1473
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphotyrosine, by FYN; propagated from
UniProtKB/Swiss-Prot (Q96J02.2); phosphorylation site"
misc_feature 1534..1623
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/note="Two conserved tryptophans domain; also known as the
WWP or rsp5 domain; around 40 amino acids; functions as an
interaction module in a diverse set of signalling
proteins; binds specific proline-rich sequences but at low
affinities compared to other...; Region: WW; cd00201"
/db_xref="CDD:29258"
misc_feature 1561..1563
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine, by SGK3; propagated from
UniProtKB/Swiss-Prot (Q96J02.2); phosphorylation site"
misc_feature order(1576..1578,1609..1611)
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/note="binding pocket"
/db_xref="CDD:29258"
misc_feature 1654..1743
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/note="Two conserved tryptophans domain; also known as the
WWP or rsp5 domain; around 40 amino acids; functions as an
interaction module in a diverse set of signalling
proteins; binds specific proline-rich sequences but at low
affinities compared to other...; Region: WW; cd00201"
/db_xref="CDD:29258"
misc_feature order(1696..1698,1729..1731)
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/note="binding pocket"
/db_xref="CDD:29258"
misc_feature 1855..2916
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/note="HECT domain; C-terminal catalytic domain of a
subclass of Ubiquitin-protein ligase (E3). It binds
specific ubiquitin-conjugating enzymes (E2), accepts
ubiquitin from E2, transfers ubiquitin to substrate lysine
side chains, and transfers additional...; Region: HECTc;
cd00078"
/db_xref="CDD:28959"
misc_feature order(1873..1875,1963..1965,1996..1998,2179..2181,
2701..2703,2806..2811,2818..2832,2890..2892,2911..2913)
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/note="catalytic cleft [active]"
/db_xref="CDD:28959"
misc_feature 1927..2913
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/note="Domain Homologous to E6-AP Carboxyl Terminus with;
Region: HECTc; smart00119"
/db_xref="CDD:197523"
misc_feature 1933..1962
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q96J02.2);
Region: MAP kinase docking site (By similarity)"
misc_feature order(2263..2265,2272..2277,2281..2286,2293..2295,
2314..2316,2320..2322,2332..2337,2341..2343,2356..2358,
2371..2373,2422..2424,2434..2436)
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/note="E2 interaction site; other site"
/db_xref="CDD:28959"
variation 236
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="c"
/replace="t"
/db_xref="dbSNP:11552867"
variation 259
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:377431173"
exon 284..425
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/inference="alignment:Splign:1.39.8"
variation 296
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:373940007"
variation 330
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:368044001"
variation 354
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:199513051"
variation 366
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:141446117"
variation 386
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:144293716"
variation 387
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="c"
/replace="t"
/db_xref="dbSNP:370090459"
exon 426..550
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/inference="alignment:Splign:1.39.8"
variation 459
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:3761146"
variation 510
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:137925915"
variation 542
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:201149238"
variation 549
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:140692208"
variation 550
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="c"
/replace="t"
/db_xref="dbSNP:199947085"
exon 551..688
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/inference="alignment:Splign:1.39.8"
variation 598
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:183893157"
variation 604
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:150122428"
variation 621
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:373829127"
variation 622
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:138451400"
variation 637
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="c"
/replace="t"
/db_xref="dbSNP:188736253"
variation 646
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="c"
/replace="g"
/db_xref="dbSNP:202036043"
variation 680
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:149625278"
exon 689..811
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/inference="alignment:Splign:1.39.8"
variation 708
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="c"
/replace="g"
/db_xref="dbSNP:146558867"
variation 738
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:372715332"
exon 812..857
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/inference="alignment:Splign:1.39.8"
variation 831
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="c"
/replace="t"
/db_xref="dbSNP:373751787"
variation 857
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:112357913"
exon 858..1015
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/inference="alignment:Splign:1.39.8"
variation 877
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="c"
/replace="g"
/db_xref="dbSNP:200506310"
variation 902
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="g"
/replace="t"
/db_xref="dbSNP:368544131"
variation 910
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="a"
/replace="t"
/db_xref="dbSNP:200246240"
variation 994
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="a"
/replace="c"
/db_xref="dbSNP:371486505"
variation 1006
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="c"
/replace="t"
/db_xref="dbSNP:200896809"
exon 1016..1205
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/inference="alignment:Splign:1.39.8"
variation 1025
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:371132495"
variation 1035
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="a"
/replace="c"
/db_xref="dbSNP:200651161"
variation 1052
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="g"
/replace="t"
/db_xref="dbSNP:145113977"
variation 1063
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:372508275"
variation 1079
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="c"
/replace="t"
/db_xref="dbSNP:368353835"
variation 1080
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:375751829"
variation 1082
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="c"
/replace="t"
/db_xref="dbSNP:370394645"
variation 1164
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="c"
/replace="t"
/db_xref="dbSNP:373885533"
variation 1178
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="c"
/replace="g"
/db_xref="dbSNP:200085579"
exon 1206..1301
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/inference="alignment:Splign:1.39.8"
variation 1224
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="c"
/replace="t"
/db_xref="dbSNP:370665674"
variation 1253
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:201610952"
variation 1278
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="c"
/replace="t"
/db_xref="dbSNP:138920167"
exon 1302..1476
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/inference="alignment:Splign:1.39.8"
variation 1325
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="g"
/replace="t"
/db_xref="dbSNP:375212186"
variation 1327
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:368511233"
variation 1350
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="c"
/replace="t"
/db_xref="dbSNP:142268366"
variation 1368
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:201221876"
variation 1383
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:367592506"
variation 1410
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:371860516"
variation 1421
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:146383612"
variation 1443
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="a"
/replace="t"
/db_xref="dbSNP:148516658"
exon 1477..1546
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/inference="alignment:Splign:1.39.8"
variation 1482
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:141828786"
variation 1529
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="c"
/replace="t"
/db_xref="dbSNP:146021135"
exon 1547..1631
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/inference="alignment:Splign:1.39.8"
variation 1581
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="c"
/replace="t"
/db_xref="dbSNP:368866673"
variation 1582
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:373086001"
variation 1604
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1052275"
exon 1632..1760
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/inference="alignment:Splign:1.39.8"
variation 1633
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="c"
/replace="g"
/db_xref="dbSNP:372589721"
variation 1647
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:76412574"
variation 1669
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:150653226"
variation 1710
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="a"
/replace="c"
/db_xref="dbSNP:75849635"
variation 1741
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="c"
/replace="t"
/db_xref="dbSNP:201066823"
exon 1761..1833
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/inference="alignment:Splign:1.39.8"
variation 1788
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="g"
/replace="t"
/db_xref="dbSNP:139765100"
variation 1809
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="c"
/replace="t"
/db_xref="dbSNP:149786961"
exon 1834..1905
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/inference="alignment:Splign:1.39.8"
variation 1879
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:201871783"
variation 1885
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="c"
/replace="t"
/db_xref="dbSNP:200841333"
variation 1897
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="c"
/replace="t"
/db_xref="dbSNP:200239748"
variation 1898
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="c"
/replace="t"
/db_xref="dbSNP:199703668"
exon 1906..1994
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/inference="alignment:Splign:1.39.8"
variation 1926
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:373876115"
exon 1995..2154
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/inference="alignment:Splign:1.39.8"
variation 2013
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:199629170"
variation 2014
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="c"
/replace="t"
/db_xref="dbSNP:113468730"
variation 2091
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="c"
/replace="t"
/db_xref="dbSNP:373626080"
variation 2100
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="c"
/replace="t"
/db_xref="dbSNP:147824534"
variation 2149
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="g"
/replace="t"
/db_xref="dbSNP:80241710"
exon 2155..2288
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/inference="alignment:Splign:1.39.8"
variation 2180
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="a"
/replace="t"
/db_xref="dbSNP:7268389"
variation 2184
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:374135990"
variation 2251
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:139633287"
exon 2289..2429
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/inference="alignment:Splign:1.39.8"
variation 2316
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:147636046"
variation 2376
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:149046008"
variation 2418
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="c"
/replace="g"
/db_xref="dbSNP:377380158"
variation 2429
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:6059862"
exon 2430..2550
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/inference="alignment:Splign:1.39.8"
variation 2490
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:143022837"
variation 2505
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="c"
/replace="t"
/db_xref="dbSNP:371043535"
exon 2551..2655
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/inference="alignment:Splign:1.39.8"
variation 2607
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="c"
/replace="t"
/db_xref="dbSNP:56366303"
exon 2656..2752
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/inference="alignment:Splign:1.39.8"
variation 2719
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="c"
/replace="t"
/db_xref="dbSNP:368005062"
exon 2753..2825
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/inference="alignment:Splign:1.39.8"
variation 2757
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="c"
/replace="t"
/db_xref="dbSNP:112607958"
variation 2779
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:374226560"
exon 2826..6524
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/inference="alignment:Splign:1.39.8"
variation 2841
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="c"
/replace="t"
/db_xref="dbSNP:140201242"
variation 2847
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="a"
/replace="c"
/db_xref="dbSNP:145318917"
variation 2916
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="a"
/replace="t"
/db_xref="dbSNP:4911428"
variation 2930
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="a"
/replace="t"
/db_xref="dbSNP:368637997"
variation 2944
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:41290892"
variation 2964
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="c"
/replace="t"
/db_xref="dbSNP:200138554"
variation 2969
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:376617291"
variation 3071
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="c"
/replace="t"
/db_xref="dbSNP:77883048"
variation 3100
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:190970171"
variation 3217
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:6088512"
variation 3295
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="a"
/replace="t"
/db_xref="dbSNP:372058359"
variation 3425
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="g"
/replace="t"
/db_xref="dbSNP:375005789"
variation 3496
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="g"
/replace="t"
/db_xref="dbSNP:182746652"
STS 3497..3660
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/standard_name="A007H06"
/db_xref="UniSTS:32777"
variation 3544
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="c"
/replace="t"
/db_xref="dbSNP:186405217"
variation 3597
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="c"
/replace="t"
/db_xref="dbSNP:376694648"
variation 3637
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="a"
/replace="c"
/db_xref="dbSNP:141320183"
variation 3742
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="g"
/replace="t"
/db_xref="dbSNP:191310394"
variation 3751
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="g"
/replace="t"
/db_xref="dbSNP:183046054"
variation 3765
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:145451437"
variation 3781
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace=""
/replace="t"
/db_xref="dbSNP:34832553"
variation 3815
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:187379795"
variation 3829
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="c"
/replace="t"
/db_xref="dbSNP:6119502"
variation 3893
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:114102657"
variation 3961
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:6142187"
variation 3982..3983
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace=""
/replace="ta"
/db_xref="dbSNP:373695855"
variation 3993
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="a"
/replace="c"
/db_xref="dbSNP:6059886"
variation 4007
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:138059778"
variation 4082
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:78110206"
variation 4134
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:190591565"
variation 4162
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="a"
/replace="t"
/db_xref="dbSNP:149513459"
variation 4266
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:41290894"
variation 4288
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="c"
/replace="t"
/db_xref="dbSNP:372868851"
variation 4379..4380
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace=""
/replace="c"
/db_xref="dbSNP:34533763"
variation 4399
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:35568544"
variation 4516
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:7509362"
variation 4780
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="g"
/replace="t"
/db_xref="dbSNP:188957568"
variation 4884
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:192446602"
variation 4951..4952
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace=""
/replace="c"
/db_xref="dbSNP:34285280"
variation 5044..5045
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace=""
/replace="t"
/db_xref="dbSNP:11167237"
variation 5100
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:184323628"
variation 5379
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:113307527"
variation 5409
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:188075885"
variation 5420
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="c"
/replace="t"
/db_xref="dbSNP:139117456"
variation 5434
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="c"
/replace="t"
/db_xref="dbSNP:149905261"
variation 5487
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1569927"
variation 5501
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="c"
/replace="t"
/db_xref="dbSNP:6058068"
STS 5517..6120
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/standard_name="ITCH_3687"
/db_xref="UniSTS:462281"
variation 5570..5574
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace=""
/replace="gttaa"
/db_xref="dbSNP:367900721"
variation 5575..5576
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace=""
/replace="tt"
/db_xref="dbSNP:10598635"
variation 5575
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="a"
/replace="t"
/db_xref="dbSNP:1569928"
variation 5586
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace=""
/replace="tt"
/db_xref="dbSNP:11468815"
variation 5601
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace=""
/replace="ttt"
/db_xref="dbSNP:59923096"
variation 5814
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:71349764"
variation 5840
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:71349765"
variation 5912
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:112533205"
variation 6049
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="a"
/replace="c"
/db_xref="dbSNP:191499961"
variation 6059
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="c"
/replace="t"
/db_xref="dbSNP:148618095"
variation 6131
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:184374823"
variation 6144
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:376212023"
variation 6181
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:189101223"
variation 6212
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="g"
/replace="t"
/db_xref="dbSNP:181549465"
variation 6472
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="c"
/replace="t"
/db_xref="dbSNP:148273189"
polyA_signal 6503..6508
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
variation 6513
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
/replace="c"
/replace="t"
/db_xref="dbSNP:185667767"
polyA_site 6524
/gene="ITCH"
/gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
ORIGIN
gcgctcaggcgcctgcgctttagctgctaactcgctctagtagctgtggtcggggctcgggaccggctgccatcttagtctagggactgaggagtcgccgccgccccgagtcccggtaccatgcatttcacggtggccttgtggagacaacgccttaacccaaggaagtgactcaaactgtgagaacttcaggttttccaacctattggtggtatgtctgacagtggatcacaacttggttcaatgggtagcctcaccatgaaatcacagcttcagatcactgtcatctcagcaaaacttaaggaaaataagaagaattggtttggaccaagtccttacgtagaggtcacagtagatggacagtcaaagaagacagaaaaatgcaacaacacaaacagtcccaagtggaagcaaccccttacagttatcgttacccctgtgagtaaattacattttcgtgtgtggagtcaccagacactgaaatctgatgttttgttgggaactgctgcattagatatttatgaaacattaaagtcaaacaatatgaaacttgaagaagtagttgtgactttgcagcttggaggtgacaaagagccaacagagacaataggagacttgtcaatttgtcttgatgggctacagttagagtctgaagttgttaccaatggtgaaactacatgttcagaaaatggggtttcgctctgtttgcccaggctggagtgcaatagtgcgatctcggctcactgcaacctctgcctcccgggtttaagtgattctcctatctcagcctcccgagtagctgggtttacaggtgcttctcagaatgatgatggctccagatccaaggatgaaacaagagtgagcacaaatggatcagatgaccctgaagatgcaggagctggtgaaaataggagagtcagtgggaataattctccatcactctcaaatggtggttttaaaccttctagacctccaagaccttcacgaccaccaccacccaccccacgtagaccagcatctgtcaatggttcaccatctgccacttctgaaagtgatgggtctagtacaggctctctgccgccgacaaatacaaatacaaatacatctgaaggagcaacatctggattaataattcctcttactatatctggaggctcaggccctaggccattaaatcctgtaactcaagctcccttgccacctggttgggagcagagagtggaccagcacgggcgagtttactatgtagatcatgttgagaaaagaacaacatgggatagaccagaacctctacctcctggctgggaacggcgggttgacaacatgggacgtatttattatgttgaccatttcacaagaacaacaacgtggcagaggccaacactggaatccgtccggaactatgaacaatggcagctacagcgtagtcagcttcaaggagcaatgcagcagtttaaccagagattcatttatgggaatcaagatttatttgctacatcacaaagtaaagaatttgatcctcttggtccattgccacctggatgggagaagagaacagacagcaatggcagagtatatttcgtcaaccacaacacacgaattacacaatgggaagaccccagaagtcaaggtcaattaaatgaaaagcccttacctgaaggttgggaaatgagattcacagtggatggaattccatattttgtggaccacaatagaagaactaccacctatatagatccccgcacaggaaaatctgccctagacaatggacctcagatagcctatgttcgggacttcaaagcaaaggttcagtatttccggttctggtgtcagcaactggccatgccacagcacataaagattacagtgacaagaaaaacattgtttgaggattcctttcaacagataatgagcttcagtccccaagatctgcgaagacgtttgtgggtgatttttccaggagaagaaggtttagattatggaggtgtagcaagagaatggttctttcttttgtcacatgaagtgttgaacccaatgtattgcctgtttgaatatgcagggaaggataactactgcttgcagataaaccccgcttcttacatcaatccagatcacctgaaatattttcgttttattggcagatttattgccatggctctgttccatgggaaattcatagacacgggtttttctttaccattctataagcgtatcttgaacaaaccagttggactcaaggatttagaatctattgatccagaattttacaattctctcatctgggttaaggaaaacaatattgaggaatgtgatttggaaatgtacttctccgttgacaaagaaattctaggtgaaattaagagtcatgatctgaaacctaatggtggcaatattcttgtaacagaagaaaataaagaggaatacatcagaatggtagctgagtggaggttgtctcgaggtgttgaagaacagacacaagctttctttgaaggctttaatgaaattcttccccagcaatatttgcaatactttgatgcaaaggaattagaggtccttttatgtggaatgcaagagattgatttgaatgactggcaaagacatgccatctaccgtcattatgcaaggaccagcaaacaaatcatgtggttttggcagtttgttaaagaaattgataatgagaagagaatgagacttctgcagtttgttactggaacctgccgattgccagtaggaggatttgctgatctcatggggagcaatggaccacagaaattctgcattgaaaaagttgggaaagaaaattggctacccagaagtcatacctgttttaatcgcctggacctgccaccatacaagagctatgagcaactgaaggaaaagctgttgtttgccatagaagaaacagaaggatttggacaagagtaacttctgagaacttgcaccatgaatgggcaagaacttatttgcaatgtttgtccttctctgcctgttgcacatcttgtaaaattggacaatggctctttagagagttatctgagtgtaagtaaattaatgttctcatttagatttatctcccagtgatttctactcagcgtttccagaaatcaggtctgcaaatgactagtcagaaccttgcttaacatgagattttaacacaacaatgaaatttgccttgtcttattccactagtttattcctttaacaacaatattttatgtgtgtcaaaagtctcacttgggagtagtgtttttttcttttagacattctgcagacatgcagggaagtcctttggtaactgcaatatacaagattttcctattaagcctcttggtaagaggcatttgttaaaagtgcaagcttactcctgcttctggggatgtgagcaaaattcgggcttgtgttctccctctcattttagtctgacttgactattgtttttcctttctggcgcatgaatccatacatcattcctggaagtgaggcaagactcttgcatctctacaaagtagttttgtcaatttgaattcagggaaaagttggtcacagcctgcaaatgacttcatttggaagtctgattgtttcagttgcctgacaaatactacactttacaaacaatgttaacactgtgattccttcattgttttaagaagttaacctagggccgggcatggtggctcatacctgtaatcctagcactctgggaggccgaggcaggaggatccctttagcccaggagttaaagaccagcctgggcaacatagggagaccctgtcttttttttgggcagcgtggtgggggataaataaataaaaggaaaaaaaacttagcctagaattagaattaatttaattgaattcatctaaagatgtctctggtgatttttatatgttccgctatataattgatgctttatagttttatcataatccaacaacttcagttatatttaattattgttaaggagtttaagactagaaagactagagtgctttctagtccaaatagaggtcagtgaaacagcttttgacatcagattttcatttgagagggagagctgtggtactggctaaaaagaaaggaagataacatccagtaaccacaggaatatattctctgtgaattaaaagtcttcaaagttatcatttctctgacatatgttggagtagtcatttccattctttacattgtcatgaactggattgataaccctcatctgcaatattttcacccctaaaatttttaacagggtttcctttttttctcacgactatttaagtttagattgctccattattaactgattaatgcactttgaagttctctggaattaattattttaacttggcctagcttcgactgtcaaggtggctgttataaatttgacttcattggcagtggatgaagcctaagccagctgagtctctatcatagctgaaccctgaggacagcctcatagctcatgtatcagggacttttgccacatttcagaggcatagcatgaacaagtaatattaagccaagaataagcagcagaaccctgttccatatggaaaaaagaaaaacaattttttgtccctaatgttcttccttttacatcctggaacaacaataaaaacatttttttaaacttgtctactgtaagatactgccatcataaagcagagacttacatgagtgaaagggttgcctcatcaagcagctcagtgtaaatggggaggctaggctctccccagccctatggtttttttatttcatgtaccccaggaaatactgtgtggtttctaaaagccctggttgttaaaagtagggactctgcctttttgttggtagggagaaaaaacgctattgctttgtcttacagagcgaatgtctgccaactacccgttcattatataagtctgaacttggtaatatatggctaatgaagattaagccctctataaagacttcctgttgaggtgaattctcatactgaaatgtagttacctacaatatttactagagatttatgaaattaaattaagagataatgtaagaaaatacatttttttggttctatataatgcttcatgattcatttagggacctagaaatattgtgtgaaaatatataaatatcacccaaaaggctttctgccctatatttttaaaatacagaatagttatatttgaagtagccctggccctagttctatagggcttggctatttaatatttttatggaagaagtgtttagttctggaaaaggtaaatgcttgtatatatttttgcagcctgggatctccctactccattttttcctttaatttaagtggccacatgtatatgtcttccctgctgtgttaggaaaatgggggctggatatcccaagaatcagaggttatataaaaatactgcaaatagaccgcagacataaatatctaccaaatgctatcttaaattttggtccaaactgaacatatggaaatagatttattgtaagtatttacttagagctttttcttaaatctgaactaacttgcttttagaagtctttttctttgtaagcattgtaaatgctaataaatcctgttaatttttttttttttttttttttttttttactgcatgttacattgaaataaaaacaaagtaaaatgagcaattgccttattgttctgctcttttgcagggggtgggggttggggaagacagcattccacagcctggtcaggagggaaggacctcacttgtttcatcaaatggagtggtttaaaactgatcaagcagctcataataatgaattcctgctctgtcttttattatcttatgtcagagtgcagcaaaatctcatttcataagacttacaataactctatttaaaattcaggtattgtactcgggaggctgaggtgggaggatcccaggagttcaaatcctgcctgggcaacatagcaagaccctgtctcttaaaaaaacaaaaagacatattcaggtactgatttttcatcaagagattgacataccaatgatcagaaattttagtgaaacttgactcaactatacacaaagttctcatcctaaatgaactatttcagtcaagcccactctaccactttttacttatctggttaataatccgaaatgttaccggggttgactcacggaattaaatttttcctctatttttatatcctttcctgttgtggatgtaacttacctttctaaactcctttagagttaacgacttctatttagtattgttggtatctccagcccccctcctttttttgtttttcttttagttatttactttgtttgtataatttgctttcattaactaaaaatggaattggcagcactggattgtatattactgtattaagagtacctttgttttcttgatctgttacttttaatactcaggtaatgctacaaatattacagggagtcaaatgcttttataaagttccttcagtggttgcctcacttgcgttttcctacaagatgtaagactgtttataattaaacttttttggtccttcaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:83737 -> Molecular function: GO:0004842 [ubiquitin-protein ligase activity] evidence: IDA
GeneID:83737 -> Molecular function: GO:0004842 [ubiquitin-protein ligase activity] evidence: NAS
GeneID:83737 -> Molecular function: GO:0004842 [ubiquitin-protein ligase activity] evidence: TAS
GeneID:83737 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
GeneID:83737 -> Molecular function: GO:0043021 [ribonucleoprotein complex binding] evidence: IPI
GeneID:83737 -> Molecular function: GO:0045236 [CXCR chemokine receptor binding] evidence: IPI
GeneID:83737 -> Biological process: GO:0001558 [regulation of cell growth] evidence: NAS
GeneID:83737 -> Biological process: GO:0002669 [positive regulation of T cell anergy] evidence: IEA
GeneID:83737 -> Biological process: GO:0006511 [ubiquitin-dependent protein catabolic process] evidence: IDA
GeneID:83737 -> Biological process: GO:0006511 [ubiquitin-dependent protein catabolic process] evidence: NAS
GeneID:83737 -> Biological process: GO:0006915 [apoptotic process] evidence: IEA
GeneID:83737 -> Biological process: GO:0006954 [inflammatory response] evidence: NAS
GeneID:83737 -> Biological process: GO:0007219 [Notch signaling pathway] evidence: TAS
GeneID:83737 -> Biological process: GO:0016567 [protein ubiquitination] evidence: IDA
GeneID:83737 -> Biological process: GO:0032088 [negative regulation of NF-kappaB transcription factor activity] evidence: ISS
GeneID:83737 -> Biological process: GO:0032480 [negative regulation of type I interferon production] evidence: TAS
GeneID:83737 -> Biological process: GO:0035519 [protein K29-linked ubiquitination] evidence: IDA
GeneID:83737 -> Biological process: GO:0035872 [nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway] evidence: TAS
GeneID:83737 -> Biological process: GO:0042787 [protein ubiquitination involved in ubiquitin-dependent protein catabolic process] evidence: IBA
GeneID:83737 -> Biological process: GO:0043066 [negative regulation of apoptotic process] evidence: IMP
GeneID:83737 -> Biological process: GO:0045087 [innate immune response] evidence: TAS
GeneID:83737 -> Biological process: GO:0045732 [positive regulation of protein catabolic process] evidence: IEA
GeneID:83737 -> Biological process: GO:0046329 [negative regulation of JNK cascade] evidence: ISS
GeneID:83737 -> Biological process: GO:0046642 [negative regulation of alpha-beta T cell proliferation] evidence: IEA
GeneID:83737 -> Biological process: GO:0046718 [viral entry into host cell] evidence: TAS
GeneID:83737 -> Biological process: GO:0050687 [negative regulation of defense response to virus] evidence: IMP
GeneID:83737 -> Biological process: GO:0051607 [defense response to virus] evidence: IEA
GeneID:83737 -> Biological process: GO:0070423 [nucleotide-binding oligomerization domain containing signaling pathway] evidence: TAS
GeneID:83737 -> Biological process: GO:0070534 [protein K63-linked ubiquitination] evidence: IDA
GeneID:83737 -> Biological process: GO:0070936 [protein K48-linked ubiquitination] evidence: IDA
GeneID:83737 -> Biological process: GO:0090085 [regulation of protein deubiquitination] evidence: ISS
GeneID:83737 -> Cellular component: GO:0005634 [nucleus] evidence: IBA
GeneID:83737 -> Cellular component: GO:0005737 [cytoplasm] evidence: IDA
GeneID:83737 -> Cellular component: GO:0005829 [cytosol] evidence: TAS
GeneID:83737 -> Cellular component: GO:0005886 [plasma membrane] evidence: IDA
GeneID:83737 -> Cellular component: GO:0005938 [cell cortex] evidence: IEA
GeneID:83737 -> Cellular component: GO:0031410 [cytoplasmic vesicle] evidence: IEA
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