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2024-04-24 01:43:14, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001276294 2706 bp mRNA linear PRI 14-MAY-2013
DEFINITION Homo sapiens nischarin (NISCH), transcript variant 3, mRNA.
ACCESSION NM_001276294
VERSION NM_001276294.1 GI:443497969
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 2706)
AUTHORS Mukaddam-Daher,S.
TITLE An 'I' on cardiac hypertrophic remodelling: imidazoline receptors
and heart disease
JOURNAL Can J Cardiol 28 (5), 590-598 (2012)
PUBMED 22483786
REMARK GeneRIF: Imidazoline receptor 1 gene plays a role in the
development of cardiac hypertrophy and ventirular remodeling.
Review article
REFERENCE 2 (bases 1 to 2706)
AUTHORS Baranwal,S., Wang,Y., Rathinam,R., Lee,J., Jin,L., McGoey,R.,
Pylayeva,Y., Giancotti,F., Blobe,G.C. and Alahari,S.K.
TITLE Molecular characterization of the tumor-suppressive function of
nischarin in breast cancer
JOURNAL J. Natl. Cancer Inst. 103 (20), 1513-1528 (2011)
PUBMED 21917605
REMARK GeneRIF: Nischarin reduces alpha5 integrin expression leading to
reduction of FAK phosphorylation and Rac GTP loading, which in turn
reduces tumor growth. NISCH also regulates PAK and LIMK signaling.
REFERENCE 3 (bases 1 to 2706)
CONSRTM Psychiatric GWAS Consortium Bipolar Disorder Working Group
TITLE Large-scale genome-wide association analysis of bipolar disorder
identifies a new susceptibility locus near ODZ4
JOURNAL Nat. Genet. 43 (10), 977-983 (2011)
PUBMED 21926972
REMARK Erratum:[Nat Genet. 2012 Sep;44(9):1072. Fullerton, Janice M
[added]; Hyoun, Phil L [corrected to Lee, Phil H]; Meng, Fan Guo
[corrected to Meng, Fan]]
Publication Status: Online-Only
REFERENCE 4 (bases 1 to 2706)
AUTHORS Bailey,S.D., Xie,C., Do,R., Montpetit,A., Diaz,R., Mohan,V.,
Keavney,B., Yusuf,S., Gerstein,H.C., Engert,J.C. and Anand,S.
CONSRTM DREAM investigators
TITLE Variation at the NFATC2 locus increases the risk of
thiazolidinedione-induced edema in the Diabetes REduction
Assessment with ramipril and rosiglitazone Medication (DREAM) study
JOURNAL Diabetes Care 33 (10), 2250-2253 (2010)
PUBMED 20628086
REMARK GeneRIF: Observational study of gene-disease association,
gene-environment interaction, and pharmacogenomic / toxicogenomic.
(HuGE Navigator)
REFERENCE 5 (bases 1 to 2706)
AUTHORS Talmud,P.J., Drenos,F., Shah,S., Shah,T., Palmen,J., Verzilli,C.,
Gaunt,T.R., Pallas,J., Lovering,R., Li,K., Casas,J.P., Sofat,R.,
Kumari,M., Rodriguez,S., Johnson,T., Newhouse,S.J., Dominiczak,A.,
Samani,N.J., Caulfield,M., Sever,P., Stanton,A., Shields,D.C.,
Padmanabhan,S., Melander,O., Hastie,C., Delles,C., Ebrahim,S.,
Marmot,M.G., Smith,G.D., Lawlor,D.A., Munroe,P.B., Day,I.N.,
Kivimaki,M., Whittaker,J., Humphries,S.E. and Hingorani,A.D.
CONSRTM ASCOT investigators; NORDIL investigators; BRIGHT Consortium
TITLE Gene-centric association signals for lipids and apolipoproteins
identified via the HumanCVD BeadChip
JOURNAL Am. J. Hum. Genet. 85 (5), 628-642 (2009)
PUBMED 19913121
REMARK GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
REFERENCE 6 (bases 1 to 2706)
AUTHORS Piletz,J.E., Deleersnijder,W., Roth,B.L., Ernsberger,P., Zhu,H. and
Ziegler,D.
TITLE IRAS splice variants
JOURNAL Ann. N. Y. Acad. Sci. 1009, 419-426 (2003)
PUBMED 15028621
REMARK GeneRIF: Results describe three alternatively spliced transcripts
of the human I(1)-imidazoline receptor candidate gene, IRAS.
REFERENCE 7 (bases 1 to 2706)
AUTHORS El-Ayoubi,R., Gutkowska,J., Regunathan,S. and Mukaddam-Daher,S.
TITLE Imidazoline receptors in the heart: characterization, distribution,
and regulation
JOURNAL J. Cardiovasc. Pharmacol. 39 (6), 875-883 (2002)
PUBMED 12021582
REMARK GeneRIF: The heart possesses imidazoline I1-receptors that are
up-regulated in the presence of hypertension or heart failure,
which suggests their involvement in cardiovascular regulation.
REFERENCE 8 (bases 1 to 2706)
AUTHORS Alahari,S.K., Lee,J.W. and Juliano,R.L.
TITLE Nischarin, a novel protein that interacts with the integrin alpha5
subunit and inhibits cell migration
JOURNAL J. Cell Biol. 151 (6), 1141-1154 (2000)
PUBMED 11121431
REFERENCE 9 (bases 1 to 2706)
AUTHORS Piletz,J.E., Ivanov,T.R., Sharp,J.D., Ernsberger,P., Chang,C.H.,
Pickard,R.T., Gold,G., Roth,B., Zhu,H., Jones,J.C., Baldwin,J. and
Reis,D.J.
TITLE Imidazoline receptor antisera-selected (IRAS) cDNA: cloning and
characterization
JOURNAL DNA Cell Biol. 19 (6), 319-329 (2000)
PUBMED 10882231
REFERENCE 10 (bases 1 to 2706)
AUTHORS Ivanov,T.R., Jones,J.C., Dontenwill,M., Bousquet,P. and Piletz,J.E.
TITLE Characterization of a partial cDNA clone detected by imidazoline
receptor-selective antisera
JOURNAL J. Auton. Nerv. Syst. 72 (2-3), 98-110 (1998)
PUBMED 9851558
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from AC006208.3, AL703940.1,
BC050552.1, BC038102.2 and BU177208.1.
Summary: This gene encodes a nonadrenergic imidazoline-1 receptor
protein that localizes to the cytosol and anchors to the inner
layer of the plasma membrane. The orthologous mouse protein has
been shown to influence cytoskeletal organization and cell
migration by binding to alpha-5-beta-1 integrin. In humans, this
protein has been shown to bind to the adapter insulin receptor
substrate 4 (IRS4) to mediate translocation of alpha-5 integrin
from the cell membrane to endosomes. Expression of this protein was
reduced in human breast cancers while its overexpression reduced
tumor growth and metastasis; possibly by limiting the expression of
alpha-5 integrin. In human cardiac tissue, this gene was found to
affect cell growth and death while in neural tissue it affected
neuronal growth and differentiation. Alternative splicing results
in multiple transcript variants encoding differerent isoforms. Some
isoforms lack the expected C-terminal domains of a functional
imidazoline receptor. [provided by RefSeq, Jan 2013].
Transcript Variant: This variant (3) lacks several exons and
includes an alternate 3' terminal exon, resulting in a novel 3'
coding region and 3' UTR, compared to variant 1. It encodes isoform
3 (also known as IRAS-S) which is shorter and has a distinct
C-terminus, compared to isoform 1. This isoform lacks multiple
domains which are believed to be required by functional imidazoline
receptors.
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##
RNAseq introns :: single sample supports all introns ERS025081,
ERS025082 [ECO:0000348]
##Evidence-Data-END##
COMPLETENESS: full length.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-126 AC006208.3 63948-64073
127-409 AL703940.1 1-283
410-1521 BC050552.1 301-1412
1522-1522 BC038102.2 1426-1426
1523-1851 BU177208.1 274-602
1852-2706 BC050552.1 2326-3180
FEATURES Location/Qualifiers
source 1..2706
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="3"
/map="3p21.1"
gene 1..2706
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
/note="nischarin"
/db_xref="GeneID:11188"
/db_xref="HGNC:18006"
exon 1..227
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
/inference="alignment:Splign:1.39.8"
variation 31
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
/replace="a"
/replace="g"
/db_xref="dbSNP:111321670"
variation 41
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
/replace="a"
/replace="t"
/db_xref="dbSNP:968588"
variation 48
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
/replace="a"
/replace="g"
/db_xref="dbSNP:368162215"
variation 58
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
/replace="g"
/replace="t"
/db_xref="dbSNP:377686080"
misc_feature 96..98
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
/note="upstream in-frame stop codon"
variation 104
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
/replace="g"
/replace="t"
/db_xref="dbSNP:1319202"
variation 124
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
/replace="c"
/replace="g"
/db_xref="dbSNP:11719772"
CDS 135..1682
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
/note="isoform 3 is encoded by transcript variant 3; I-1
receptor candidate protein; imidazoline receptor antisera
selected; I1R candidate protein; imidazoline receptor 1"
/codon_start=1
/product="nischarin isoform 3"
/protein_id="NP_001263223.1"
/db_xref="GI:443497970"
/db_xref="GeneID:11188"
/db_xref="HGNC:18006"
/translation="
MATARTFGPEREAEPAKEARVVGSELVDTYTVYIIQVTDGSHEWTVKHRYSDFHDLHEKLVAERKIDKNLLPPKKIIGKNSRSLVEKREKDLEVYLQKLLAAFPGVTPRVLAHFLHFHFYEINGITAALAEELFEKGEQLLGAGEVFAIGPLQLYAVTEQLQQGKPTCASGDAKTDLGHILDFTCRLKYLKVSGTEGPFGTSNIQEQLLPFDLSIFKSLHQVEISHCDAKHIRGLVASKPTLATLSVRFSATSMKEVLVPEASEFDEWEPEGTTLEGPVTAVIPTWQALTTLDLSHNSISEIDESVKLIPKIEFLDLSHNGLLVVDNLQHLYNLVHLDLSYNKLSSLEGLHTKLGNIKTLNLAGNLLESLSGLHKLYSLVNLDLRDNRIEQMEEVRSIGSLPCLEHVSLLNNPLSIIPDYRTKVLAQFGERASEVCLDDTVTTEKELDTVEVLKAIQKAKEVKSKLSNPEKKGGEDSRLSAAPCIRPSSSPPTVAPASASLPQPILSNQGILGDE
"
misc_feature 135..533
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9Y2I1.3);
Region: Necessary for binding to phosphoinositide-3-P, not
sufficient for targeting to endosomes"
misc_feature 195..521
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
/note="The phosphoinositide binding Phox Homology domain
of the Imidazoline Receptor Antisera-Selected; Region:
PX_IRAS; cd06875"
/db_xref="CDD:132785"
misc_feature order(279..287,354..359,396..398)
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
/note="phosphoinositide binding site [chemical binding];
other site"
/db_xref="CDD:132785"
misc_feature <996..1379
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
/note="Leucine-rich repeats (LRRs), ribonuclease inhibitor
(RI)-like subfamily. LRRs are 20-29 residue sequence
motifs present in many proteins that participate in
protein-protein interactions and have different functions
and cellular locations. LRRs correspond...; Region:
LRR_RI; cl15309"
/db_xref="CDD:199167"
misc_feature order(999..1001,1008..1010,1014..1016,1023..1025,
1029..1031,1068..1070,1077..1079,1083..1085,1092..1094,
1098..1100,1134..1136,1143..1145,1149..1151,1158..1160,
1164..1166,1203..1205,1212..1214,1218..1220,1227..1229,
1233..1235,1269..1271,1278..1280,1284..1286,1293..1295,
1299..1301,1344..1346,1353..1355,1359..1361,1368..1370,
1374..1376)
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
/note="Leucine-rich repeats; other site"
/db_xref="CDD:29015"
misc_feature order(1020..1022,1089..1091,1224..1226,1281..1283,
1287..1289,1356..1358)
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
/note="Substrate binding site [chemical binding]; other
site"
/db_xref="CDD:29015"
misc_feature 1062..1184
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
/note="Leucine Rich repeats (2 copies); Region: LRR_4;
pfam12799"
/db_xref="CDD:205079"
misc_feature 1131..1301
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
/note="Leucine rich repeat; Region: LRR_8; pfam13855"
/db_xref="CDD:206026"
variation 152
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
/replace=""
/replace="c"
/db_xref="dbSNP:35134540"
exon 228..311
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
/inference="alignment:Splign:1.39.8"
variation 240
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
/replace="c"
/replace="g"
/db_xref="dbSNP:373680961"
variation 259
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
/replace="a"
/replace="g"
/db_xref="dbSNP:376872356"
exon 312..494
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
/inference="alignment:Splign:1.39.8"
variation 314
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
/replace="c"
/replace="t"
/db_xref="dbSNP:140873050"
variation 315
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
/replace="a"
/replace="g"
/db_xref="dbSNP:140213598"
variation 341
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
/replace="c"
/replace="t"
/db_xref="dbSNP:1541495"
variation 350
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
/replace="a"
/replace="g"
/db_xref="dbSNP:375129226"
variation 449
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
/replace="c"
/replace="t"
/db_xref="dbSNP:200818525"
exon 495..543
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
/inference="alignment:Splign:1.39.8"
variation 514
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
/replace="c"
/replace="t"
/db_xref="dbSNP:146890321"
variation 515
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
/replace="a"
/replace="g"
/db_xref="dbSNP:139351379"
exon 544..707
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
/inference="alignment:Splign:1.39.8"
variation 548
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
/replace="a"
/replace="t"
/db_xref="dbSNP:147461628"
variation 563
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
/replace="c"
/replace="t"
/db_xref="dbSNP:79469996"
variation 564
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
/replace="a"
/replace="g"
/db_xref="dbSNP:149595998"
variation 578
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
/replace="c"
/replace="t"
/db_xref="dbSNP:148675688"
variation 580
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
/replace="c"
/replace="t"
/db_xref="dbSNP:201162297"
variation 603
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
/replace="a"
/replace="g"
/db_xref="dbSNP:183915749"
variation 607
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
/replace="c"
/replace="t"
/db_xref="dbSNP:202168458"
variation 638
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
/replace="c"
/replace="t"
/db_xref="dbSNP:146742349"
variation 649
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
/replace="a"
/replace="g"
/db_xref="dbSNP:143979580"
variation 659
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
/replace="c"
/replace="t"
/db_xref="dbSNP:150124723"
variation 674
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
/replace="a"
/replace="c"
/db_xref="dbSNP:145517380"
exon 708..803
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
/inference="alignment:Splign:1.39.8"
variation 747
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
/replace="c"
/replace="g"
/db_xref="dbSNP:201085571"
variation 756
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
/replace="c"
/replace="t"
/db_xref="dbSNP:146818112"
variation 762
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
/replace="c"
/replace="t"
/db_xref="dbSNP:147030604"
variation 764
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
/replace="a"
/replace="g"
/db_xref="dbSNP:148100246"
variation 777
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
/replace="a"
/replace="g"
/db_xref="dbSNP:139780692"
exon 804..899
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
/inference="alignment:Splign:1.39.8"
variation 807
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
/replace="a"
/replace="c"
/db_xref="dbSNP:141707381"
variation 823
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
/replace="a"
/replace="g"
/db_xref="dbSNP:144172612"
variation 836
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
/replace="a"
/replace="g"
/db_xref="dbSNP:56114678"
variation 842
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
/replace="c"
/replace="t"
/db_xref="dbSNP:370837747"
variation 843
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
/replace="a"
/replace="g"
/db_xref="dbSNP:141246499"
variation 847
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
/replace="c"
/replace="t"
/db_xref="dbSNP:147937807"
variation 848
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
/replace="a"
/replace="g"
/db_xref="dbSNP:76608301"
variation 854
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
/replace="c"
/replace="t"
/db_xref="dbSNP:61134406"
variation 857
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
/replace="c"
/replace="t"
/db_xref="dbSNP:183032337"
variation 876
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
/replace="c"
/replace="t"
/db_xref="dbSNP:199663460"
exon 900..1052
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
/inference="alignment:Splign:1.39.8"
variation 920
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
/replace="c"
/replace="t"
/db_xref="dbSNP:200589931"
variation 921
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
/replace="a"
/replace="t"
/db_xref="dbSNP:148320456"
variation 977
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
/replace="c"
/replace="t"
/db_xref="dbSNP:60805368"
variation 978
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
/replace="a"
/replace="g"
/db_xref="dbSNP:199545023"
variation 983
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
/replace="c"
/replace="t"
/db_xref="dbSNP:142571978"
variation 1006
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
/replace="c"
/replace="t"
/db_xref="dbSNP:372082480"
variation 1007
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
/replace="a"
/replace="g"
/db_xref="dbSNP:375370492"
variation 1008
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
/replace="c"
/replace="t"
/db_xref="dbSNP:200763699"
variation 1025
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
/replace="c"
/replace="t"
/db_xref="dbSNP:139638387"
variation 1029
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
/replace="a"
/replace="g"
/db_xref="dbSNP:9856575"
variation 1037
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
/replace="g"
/replace="t"
/db_xref="dbSNP:372476563"
variation 1040
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
/replace="c"
/replace="t"
/db_xref="dbSNP:61738410"
variation 1041
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
/replace="a"
/replace="g"
/db_xref="dbSNP:142925971"
variation 1043
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
/replace="c"
/replace="t"
/db_xref="dbSNP:377168283"
exon 1053..1121
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
/inference="alignment:Splign:1.39.8"
variation 1095
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
/replace="a"
/replace="g"
/db_xref="dbSNP:372936271"
exon 1122..1307
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
/inference="alignment:Splign:1.39.8"
variation 1163
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
/replace="a"
/replace="g"
/db_xref="dbSNP:367571268"
variation 1166
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
/replace="c"
/replace="g"
/db_xref="dbSNP:374743785"
variation 1171
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
/replace="c"
/replace="t"
/db_xref="dbSNP:141115377"
variation 1242
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
/replace="c"
/replace="g"
/db_xref="dbSNP:376921326"
variation 1249
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
/replace="a"
/replace="g"
/db_xref="dbSNP:138837125"
variation 1255
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
/replace="a"
/replace="g"
/db_xref="dbSNP:201701090"
variation 1270
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
/replace="c"
/replace="t"
/db_xref="dbSNP:145669901"
variation 1278
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
/replace="c"
/replace="t"
/db_xref="dbSNP:374630439"
variation 1295
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
/replace="c"
/replace="t"
/db_xref="dbSNP:199949923"
variation 1302
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
/replace="a"
/replace="g"
/db_xref="dbSNP:142530239"
exon 1308..1436
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
/inference="alignment:Splign:1.39.8"
variation 1320
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
/replace="c"
/replace="t"
/db_xref="dbSNP:200373254"
variation 1327
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
/replace="c"
/replace="t"
/db_xref="dbSNP:148269171"
variation 1350
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
/replace="c"
/replace="t"
/db_xref="dbSNP:369255705"
variation 1353
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
/replace="a"
/replace="g"
/db_xref="dbSNP:111273639"
variation 1364
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
/replace="a"
/replace="g"
/db_xref="dbSNP:372950011"
variation 1381
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
/replace="g"
/replace="t"
/db_xref="dbSNP:145041762"
variation 1418
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
/replace="c"
/replace="t"
/db_xref="dbSNP:140425464"
exon 1437..1550
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
/inference="alignment:Splign:1.39.8"
variation 1491
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
/replace="c"
/replace="t"
/db_xref="dbSNP:11553556"
variation 1495
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
/replace="a"
/replace="g"
/db_xref="dbSNP:372042714"
variation 1513
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
/replace="a"
/replace="g"
/db_xref="dbSNP:78900486"
variation 1550
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
/replace="a"
/replace="g"
/db_xref="dbSNP:146880575"
exon 1551..1662
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
/inference="alignment:Splign:1.39.8"
variation 1552
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
/replace=""
/replace="g"
/db_xref="dbSNP:35710897"
variation 1622
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
/replace="c"
/replace="t"
/db_xref="dbSNP:71297399"
variation 1624
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
/replace="a"
/replace="c"
/db_xref="dbSNP:375016559"
variation 1631
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
/replace="c"
/replace="t"
/db_xref="dbSNP:201131163"
variation 1634
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
/replace="c"
/replace="t"
/db_xref="dbSNP:200065466"
variation 1652
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
/replace="c"
/replace="t"
/db_xref="dbSNP:183152498"
exon 1663..2694
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
/inference="alignment:Splign:1.39.8"
variation 1994
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
/replace="c"
/replace="t"
/db_xref="dbSNP:376728075"
variation 2042
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
/replace="c"
/replace="t"
/db_xref="dbSNP:186257988"
variation 2111
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
/replace="c"
/replace="t"
/db_xref="dbSNP:114039164"
variation 2155
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
/replace="a"
/replace="c"
/db_xref="dbSNP:369675367"
variation 2166
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
/replace="a"
/replace="g"
/db_xref="dbSNP:374207285"
variation 2173
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
/replace="a"
/replace="g"
/db_xref="dbSNP:113683247"
variation 2218
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
/replace="a"
/replace="g"
/db_xref="dbSNP:371283652"
variation 2301
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
/replace="c"
/replace="t"
/db_xref="dbSNP:758803"
variation 2326
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
/replace="g"
/replace="t"
/db_xref="dbSNP:151000162"
STS 2355..2472
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
/standard_name="RH91377"
/db_xref="UniSTS:91695"
variation 2391
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
/replace="c"
/replace="t"
/db_xref="dbSNP:139660510"
variation 2487
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
/replace="a"
/replace="g"
/db_xref="dbSNP:149666347"
variation 2572
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
/replace="c"
/replace="t"
/db_xref="dbSNP:145477312"
variation 2582
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
/replace="a"
/replace="g"
/db_xref="dbSNP:370159605"
variation 2604
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
/replace="a"
/replace="g"
/db_xref="dbSNP:112281774"
variation 2628
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
/replace="a"
/replace="g"
/db_xref="dbSNP:140241772"
variation 2633
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
/replace="c"
/replace="t"
/db_xref="dbSNP:117317889"
polyA_signal 2674..2679
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
polyA_site 2694
/gene="NISCH"
/gene_synonym="hIRAS; I-1; IR1; IRAS"
ORIGIN
aggcggggccaagatggcggcgcagcgcgcggcgggggcgacgggcggcgggggccggggggcggtgggacgttgaccccgccccctgctgctgctagtctgcgccgggcggcggtggcggcggagacccgaacatggcgaccgcgcgcaccttcgggcccgagcgggaagccgagccggccaaggaagcgcgcgtcgtgggctcggagcttgtggacacttatacggtttacatcatccaggtcactgatggcagccatgagtggacagtaaagcaccgctacagcgacttccatgacctgcatgaaaagctcgttgcagagagaaagattgataaaaatctgcttccgcccaaaaagataattgggaaaaactcaagaagcttggtggagaagagggagaaggatctggaggtctacctccagaagctcctggctgccttccctggcgtgacccccagagtactggcccacttcttgcattttcacttctatgagataaatggcatcaccgcggcactggctgaagagctctttgagaaaggagaacagctcctgggggccggcgaggtctttgccattggacccctgcagctgtatgccgtcacggagcagctgcagcagggaaagcccacgtgcgccagtggggatgccaagaccgacctcgggcacatcctggacttcacctgtcgccttaagtaccttaaggtttctggcacagaaggaccttttgggaccagcaacattcaggagcagctcctgccgttcgacctatcaatattcaagtccctgcatcaggtggagataagtcactgtgatgctaagcacatcagagggctggtcgcatcgaagcccaccttagccacgctgagtgtccgcttctcagcaacctcgatgaaggaagtccttgttcctgaagcctcagaatttgatgagtgggagcctgaaggcacaaccctagaaggccctgtgactgccgtcatccccacttggcaggcattgaccacgcttgacctgagccacaacagcatctccgagatcgacgagtctgtgaaactgatcccaaagattgagttcctggacctgagtcacaatggattgctggttgtggacaatctgcagcacctgtataaccttgtgcatctggacctgtcctacaacaagctctcctccttggaagggcttcacaccaagctggggaacatcaagaccttaaacctggcaggcaacctcctagagagtctgagtggcctgcacaagctctactcactggtcaacctggatctccgggacaacaggatcgaacagatggaggaggtccggagcataggcagcctcccgtgtctggagcacgtgtctctgctgaacaaccctctgagcatcatccccgactaccggaccaaggtgctggctcagttcggagagagggcctcagaggtctgtctggatgacacagtgaccacagagaaggagctggacactgtggaagtgctgaaagcaattcagaaagccaaggaggtcaagtccaaactgagcaacccagagaagaagggtggtgaagactcccggctctcagctgccccctgcatcagacccagcagctcccctcccactgtggctcccgcatctgcctccctgccccagcccatcctctctaaccaaggcatcctcggagatgagtgagtgaagcaggtctcatgagcgtgtctgctggcccggcccccacggaagaggggagggtgtgccgtcccgagtggagccgaggctcgggacacgcaggaaaggacgccgcctgcccgggctcctggagacgcagaacttggtgtgaggtcttgggaaaacagttcaacccgatgttttaagagccagaaaaacattcccaccccttgacctggtaaccccactggtggggattttctcttagagggataagataccgggaaggggaggtgaaatgctcaccactgccaaaacacgggctgcaactgcaacatcggaggatgagagggagagtcggctgtggtgcagaatgctcagcagccctcccagcagggacaggaagactgggcaggaagaggggagaagcattcaagttaaggcaaaaggcccaacgcagagcagcacactgaggtcacacctgtgagatgtggaagagaattcctgagcgtggagcgatggggttaggtgccaggatgattgcccattttgcttctgtcagactcttgactaaggatttctggttgcattttattacataaaagccagggaggttatatcacggtgagaaagcttccctgacgccgcctcctgtagcgcagccaagcgagcctgtggaggtaccatatgactgtaggcctctggggacagggagctgcatctgcttctcaaggccagggacacagccatttctgccagcatctgttgatcagtgagtgagtgagtgggcaggtagagcaggagccagtgaagagcaggccctggatgggtggggatgcaccatgtccccaggctgcagctgcaggcagccccccacattgtcggagaagcctctgcaccagctcagccccctcctcactccccttgtgccctggggacactctgcagaggggcactctgcagtctgtccccgccatcgctggacttctggacatggcctccagatttgcacctcttaaataaaactgcagtggatgtcaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:11188 -> Molecular function: GO:0005178 [integrin binding] evidence: IEA
GeneID:11188 -> Molecular function: GO:0008227 [G-protein coupled amine receptor activity] evidence: IEA
GeneID:11188 -> Molecular function: GO:0035091 [phosphatidylinositol binding] evidence: IEA
GeneID:11188 -> Biological process: GO:0006006 [glucose metabolic process] evidence: IEA
GeneID:11188 -> Biological process: GO:0006915 [apoptotic process] evidence: IEA
GeneID:11188 -> Biological process: GO:0008217 [regulation of blood pressure] evidence: IEA
GeneID:11188 -> Biological process: GO:0016601 [Rac protein signal transduction] evidence: IEA
GeneID:11188 -> Biological process: GO:0030036 [actin cytoskeleton organization] evidence: IEA
GeneID:11188 -> Biological process: GO:0030336 [negative regulation of cell migration] evidence: IEA
GeneID:11188 -> Biological process: GO:0032228 [regulation of synaptic transmission, GABAergic] evidence: IEA
GeneID:11188 -> Biological process: GO:0048243 [norepinephrine secretion] evidence: IEA
GeneID:11188 -> Cellular component: GO:0005769 [early endosome] evidence: IEA
GeneID:11188 -> Cellular component: GO:0005829 [cytosol] evidence: IDA
GeneID:11188 -> Cellular component: GO:0005886 [plasma membrane] evidence: IDA
GeneID:11188 -> Cellular component: GO:0055037 [recycling endosome] evidence: IEA
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@meso_cacase at
DBCLS
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