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2024-04-26 17:47:16, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_198317 2581 bp mRNA linear PRI 14-APR-2013
DEFINITION Homo sapiens kelch-like family member 17 (KLHL17), mRNA.
ACCESSION NM_198317 XM_290904
VERSION NM_198317.2 GI:304571968
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 2581)
AUTHORS Chen,Y., Derin,R., Petralia,R.S. and Li,M.
TITLE Actinfilin, a brain-specific actin-binding protein in postsynaptic
density
JOURNAL J. Biol. Chem. 277 (34), 30495-30501 (2002)
PUBMED 12063253
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from AY423763.1, AA774437.1 and
CA432461.1.
This sequence is a reference standard in the RefSeqGene project.
On Aug 27, 2010 this sequence version replaced gi:38194228.
Summary: The protein encoded by this gene is expressed in neurons
of most regions of the brain. It contains an N-terminal BTB domain,
which mediates dimerization of the protein, and a C-terminal Kelch
domain, which mediates binding to F-actin. This protein may play a
key role in the regulation of actin-based neuronal function.
[provided by RefSeq, Aug 2010].
##Evidence-Data-START##
Transcript exon combination :: AY423763.1 [ECO:0000332]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-2436 AY423763.1 1-2436
2437-2492 AA774437.1 77-132 c
2493-2581 CA432461.1 1-89 c
FEATURES Location/Qualifiers
source 1..2581
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="1"
/map="1p36.33"
gene 1..2581
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/note="kelch-like family member 17"
/db_xref="GeneID:339451"
/db_xref="HGNC:24023"
/db_xref="HPRD:13926"
exon 1..214
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/inference="alignment:Splign:1.39.8"
misc_feature 3..5
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/note="upstream in-frame stop codon"
variation 14
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="g"
/replace="t"
/db_xref="dbSNP:74332833"
variation 98
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="c"
/replace="g"
/db_xref="dbSNP:113034360"
CDS 108..2036
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/note="actinfilin; kelch-like 17"
/codon_start=1
/product="kelch-like protein 17"
/protein_id="NP_938073.1"
/db_xref="GI:38194229"
/db_xref="CCDS:CCDS30550.1"
/db_xref="GeneID:339451"
/db_xref="HGNC:24023"
/db_xref="HPRD:13926"
/translation="
MQPRSERPAGRTQSPEHGSPGPGPEAPPPPPPQPPAPEAERTRPRQARPAAPMEGAVQLLSREGHSVAHNSKRHYHDAFVAMSRMRQRGLLCDIVLHVAAKEIRAHKVVLASCSPYFHAMFTNEMSESRQTHVTLHDIDPQALDQLVQFAYTAEIVVGEGNVQTLLPAASLLQLNGVRDACCKFLLSQLDPSNCLGIRGFADAHSCSDLLKAAHRYVLQHFVDVAKTEEFMLLPLKQVLELVSSDSLNVPSEEEVYRAVLSWVKHDVDARRQHVPRLMKCVRLPLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGGGSLFAIHGDCEAYDTRTDRWHVVASMSTRRARVGVAAVGNRLYAVGGYDGTSDLATVESYDPVTNTWQPEVSMGTRRSCLGVAALHGLLYSAGGYDGASCLNSAERYDPLTGTWTSVAAMSTRRRYVRVATLDGNLYAVGGYDSSSHLATVEKYEPQVNVWSPVASMLSRRSSAGVAVLEGALYVAGGNDGTSCLNSVERYSPKAGAWESVAPMNIRRSTHDLVAMDGWLYAVGGNDGSSSLNSIEKYNPRTNKWVAASCMFTRRSSVGVAVLELLNFPPPSSPTLSVSSTSL
"
misc_feature 351..665
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/note="BTB/POZ domain; Region: BTB; pfam00651"
/db_xref="CDD:201372"
misc_feature 381..1781
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/note="kelch-like protein; Provisional; Region: PHA03098"
/db_xref="CDD:165380"
misc_feature 687..989
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/note="BTB And C-terminal Kelch; Region: BACK; pfam07707"
/db_xref="CDD:149006"
misc_feature 972..2030
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q6TDP4.1);
Region: Interaction with F-actin (By similarity)"
misc_feature 1134..1274
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/note="Kelch domain; Region: Kelch; smart00612"
/db_xref="CDD:128874"
misc_feature 1239..1376
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/note="Kelch motif; Region: Kelch_1; pfam01344"
/db_xref="CDD:201739"
misc_feature 1416..1556
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/note="Kelch domain; Region: Kelch; smart00612"
/db_xref="CDD:128874"
misc_feature 1560..1697
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/note="Kelch domain; Region: Kelch; smart00612"
/db_xref="CDD:128874"
misc_feature 1701..1838
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/note="Kelch domain; Region: Kelch; smart00612"
/db_xref="CDD:128874"
misc_feature 1842..1976
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/note="Kelch domain; Region: Kelch; smart00612"
/db_xref="CDD:128874"
misc_feature 2025..2033
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q6TDP4.1);
Region: Interaction with PDZK1 (By similarity)"
variation 197
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="a"
/replace="c"
/db_xref="dbSNP:192245893"
exon 215..474
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/inference="alignment:Splign:1.39.8"
variation 228
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="c"
/replace="t"
/db_xref="dbSNP:371565270"
variation 270
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="a"
/replace="g"
/db_xref="dbSNP:200516692"
variation 291
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="c"
/replace="t"
/db_xref="dbSNP:374429258"
variation 296
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="a"
/replace="g"
/db_xref="dbSNP:199679371"
variation 297
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="g"
/replace="t"
/db_xref="dbSNP:367732148"
variation 298
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="a"
/replace="g"
/db_xref="dbSNP:146518595"
variation 306
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="c"
/replace="g"
/db_xref="dbSNP:371435441"
variation 317
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="c"
/replace="t"
/db_xref="dbSNP:145445315"
variation 320
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="c"
/replace="t"
/db_xref="dbSNP:146531632"
variation 335
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="c"
/replace="t"
/db_xref="dbSNP:373715846"
variation 346
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="c"
/replace="t"
/db_xref="dbSNP:200323901"
variation 377
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="c"
/replace="t"
/db_xref="dbSNP:374261219"
variation 407
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="c"
/replace="g"
/db_xref="dbSNP:141117010"
variation 410
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="a"
/replace="g"
/db_xref="dbSNP:368109841"
variation 450
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="c"
/replace="t"
/db_xref="dbSNP:374562863"
exon 475..596
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/inference="alignment:Splign:1.39.8"
variation 475
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="a"
/replace="g"
/db_xref="dbSNP:138690517"
variation 498
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="a"
/replace="g"
/db_xref="dbSNP:138709878"
variation 509
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="a"
/replace="g"
/db_xref="dbSNP:368854316"
variation 519
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="a"
/replace="g"
/db_xref="dbSNP:202113363"
variation 521
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="a"
/replace="c"
/db_xref="dbSNP:373376698"
variation 524
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="c"
/replace="t"
/db_xref="dbSNP:189446438"
variation 526
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="c"
/replace="t"
/db_xref="dbSNP:376612097"
variation 528
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="c"
/replace="t"
/db_xref="dbSNP:201173982"
variation 530
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="a"
/replace="g"
/db_xref="dbSNP:144837293"
variation 533
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="c"
/replace="t"
/db_xref="dbSNP:140137033"
variation 545
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="a"
/replace="g"
/db_xref="dbSNP:373209389"
variation 571
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="c"
/replace="t"
/db_xref="dbSNP:147289908"
variation 584
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="a"
/replace="g"
/db_xref="dbSNP:376184991"
variation 585
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="a"
/replace="g"
/db_xref="dbSNP:371066447"
variation 586
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="c"
/replace="g"
/db_xref="dbSNP:28530579"
variation 590
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="c"
/replace="t"
/db_xref="dbSNP:375705288"
exon 597..818
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/inference="alignment:Splign:1.39.8"
variation 599
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="c"
/replace="t"
/db_xref="dbSNP:372683639"
variation 605
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="c"
/replace="t"
/db_xref="dbSNP:370957996"
variation 607
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="c"
/replace="t"
/db_xref="dbSNP:186126206"
variation 609
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="a"
/replace="g"
/db_xref="dbSNP:376949939"
variation 638
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="c"
/replace="g"
/db_xref="dbSNP:200189761"
variation 642
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="a"
/replace="g"
/db_xref="dbSNP:150756317"
variation 644
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="c"
/replace="t"
/db_xref="dbSNP:370709224"
variation 652
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="a"
/replace="g"
/db_xref="dbSNP:202222378"
variation 676
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="a"
/replace="g"
/db_xref="dbSNP:149866042"
variation 677
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="c"
/replace="t"
/db_xref="dbSNP:79271696"
variation 690
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="c"
/replace="t"
/db_xref="dbSNP:146720000"
variation 700
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="a"
/replace="g"
/db_xref="dbSNP:373820131"
variation 710
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="c"
/replace="t"
/db_xref="dbSNP:376251054"
variation 716
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="c"
/replace="g"
/db_xref="dbSNP:4970441"
variation 721
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="c"
/replace="t"
/db_xref="dbSNP:150391309"
variation 727
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="g"
/replace="t"
/db_xref="dbSNP:368682182"
variation 728
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="c"
/replace="t"
/db_xref="dbSNP:115985665"
variation 731
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="c"
/replace="t"
/db_xref="dbSNP:373185160"
variation 732
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="c"
/replace="t"
/db_xref="dbSNP:377602573"
variation 735
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="c"
/replace="t"
/db_xref="dbSNP:370568234"
variation 740
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="a"
/replace="g"
/db_xref="dbSNP:149416826"
variation 770
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="c"
/replace="t"
/db_xref="dbSNP:144788434"
exon 819..935
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/inference="alignment:Splign:1.39.8"
variation 819
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="c"
/replace="g"
/db_xref="dbSNP:371157901"
variation 822
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="c"
/replace="t"
/db_xref="dbSNP:6696971"
variation 828
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="c"
/replace="t"
/db_xref="dbSNP:146769616"
variation 833
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="c"
/replace="t"
/db_xref="dbSNP:369440263"
variation 835
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="c"
/replace="g"
/db_xref="dbSNP:149918236"
variation 843
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="a"
/replace="g"
/db_xref="dbSNP:375392467"
variation 844
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="a"
/replace="g"
/db_xref="dbSNP:367750669"
variation 852
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="a"
/replace="g"
/db_xref="dbSNP:199639753"
variation 874
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="a"
/replace="g"
/db_xref="dbSNP:371445171"
variation 877
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="a"
/replace="g"
/db_xref="dbSNP:148945952"
variation 886
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="g"
/replace="t"
/db_xref="dbSNP:199700665"
variation 888
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="a"
/replace="g"
/db_xref="dbSNP:200158162"
variation 889
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="a"
/replace="g"
/db_xref="dbSNP:373722345"
variation 897
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="a"
/replace="t"
/db_xref="dbSNP:373348097"
variation 899
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="a"
/replace="g"
/db_xref="dbSNP:138271663"
variation 920
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="a"
/replace="g"
/db_xref="dbSNP:368123485"
variation 932
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="a"
/replace="g"
/db_xref="dbSNP:371585667"
variation 933
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="c"
/replace="t"
/db_xref="dbSNP:146903778"
exon 936..1149
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/inference="alignment:Splign:1.39.8"
variation 954
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="c"
/replace="t"
/db_xref="dbSNP:141580981"
variation 969
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="c"
/replace="t"
/db_xref="dbSNP:138285406"
variation 970
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="g"
/replace="t"
/db_xref="dbSNP:145980332"
variation 971
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="c"
/replace="t"
/db_xref="dbSNP:79110607"
variation 972
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="a"
/replace="g"
/db_xref="dbSNP:142704607"
variation 989
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="c"
/replace="g"
/db_xref="dbSNP:139584338"
variation 998
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="c"
/replace="t"
/db_xref="dbSNP:199659768"
variation 999
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="a"
/replace="g"
/db_xref="dbSNP:373361452"
variation 1005
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="a"
/replace="c"
/db_xref="dbSNP:147703918"
variation 1014
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="c"
/replace="t"
/db_xref="dbSNP:377373308"
variation 1016
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="c"
/replace="g"
/db_xref="dbSNP:146297881"
variation 1019
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="c"
/replace="t"
/db_xref="dbSNP:201182303"
variation 1034
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="c"
/replace="t"
/db_xref="dbSNP:148999970"
variation 1037
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="c"
/replace="t"
/db_xref="dbSNP:143001312"
variation 1043
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="c"
/replace="t"
/db_xref="dbSNP:138554140"
variation 1044
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="a"
/replace="g"
/db_xref="dbSNP:369247463"
variation 1055
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="c"
/replace="g"
/db_xref="dbSNP:375045421"
variation 1070
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="c"
/replace="t"
/db_xref="dbSNP:372211605"
variation 1082
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="c"
/replace="t"
/db_xref="dbSNP:202112474"
variation 1083
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="a"
/replace="g"
/db_xref="dbSNP:373273289"
variation 1085
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="c"
/replace="t"
/db_xref="dbSNP:376746972"
variation 1099
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="a"
/replace="g"
/db_xref="dbSNP:146171900"
variation 1107
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="c"
/replace="t"
/db_xref="dbSNP:149530671"
variation 1110
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="a"
/replace="c"
/db_xref="dbSNP:368297267"
variation 1114
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="a"
/replace="g"
/db_xref="dbSNP:148661653"
variation 1127
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="c"
/replace="t"
/db_xref="dbSNP:371082656"
variation 1136
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="a"
/replace="g"
/db_xref="dbSNP:201850764"
exon 1150..1294
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/inference="alignment:Splign:1.39.8"
variation 1154
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="c"
/replace="t"
/db_xref="dbSNP:370008031"
variation 1172
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="a"
/replace="c"
/db_xref="dbSNP:147826915"
variation 1181
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="c"
/replace="g"
/db_xref="dbSNP:144743964"
variation 1193
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="c"
/replace="t"
/db_xref="dbSNP:140465014"
variation 1194
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="a"
/replace="g"
/db_xref="dbSNP:145434013"
variation 1196
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="c"
/replace="t"
/db_xref="dbSNP:145086267"
variation 1199
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="a"
/replace="g"
/db_xref="dbSNP:141603895"
variation 1203
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="a"
/replace="g"
/db_xref="dbSNP:186429850"
variation 1205
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="c"
/replace="t"
/db_xref="dbSNP:376543834"
variation 1209
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="c"
/replace="t"
/db_xref="dbSNP:370965813"
variation 1210
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="a"
/replace="g"
/db_xref="dbSNP:202197043"
variation 1218
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="a"
/replace="g"
/db_xref="dbSNP:201246933"
variation 1238
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="a"
/replace="g"
/db_xref="dbSNP:7525697"
variation 1240
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="a"
/replace="g"
/db_xref="dbSNP:372872551"
variation 1264
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="c"
/replace="g"
/db_xref="dbSNP:199823418"
variation 1265
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="a"
/replace="g"
/db_xref="dbSNP:373840424"
variation 1274
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="c"
/replace="t"
/db_xref="dbSNP:61746776"
exon 1295..1462
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/inference="alignment:Splign:1.39.8"
variation 1295
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="c"
/replace="t"
/db_xref="dbSNP:200016628"
variation 1306
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="c"
/replace="g"
/db_xref="dbSNP:138887470"
variation 1307
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:113057758"
variation 1323
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="a"
/replace="g"
/db_xref="dbSNP:144707534"
variation 1340
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="c"
/replace="g"
/db_xref="dbSNP:148507945"
variation 1341
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="a"
/replace="g"
/db_xref="dbSNP:369390543"
variation 1359
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="c"
/replace="t"
/db_xref="dbSNP:151038313"
variation 1360
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="c"
/replace="t"
/db_xref="dbSNP:200489647"
variation 1361
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="a"
/replace="g"
/db_xref="dbSNP:201126895"
variation 1365
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="g"
/replace="t"
/db_xref="dbSNP:143920987"
variation 1404
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="a"
/replace="g"
/db_xref="dbSNP:202077085"
variation 1408
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="c"
/replace="t"
/db_xref="dbSNP:140681689"
variation 1430
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="c"
/replace="t"
/db_xref="dbSNP:117269332"
variation 1433
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="c"
/replace="t"
/db_xref="dbSNP:142869836"
variation 1436
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="c"
/replace="t"
/db_xref="dbSNP:61743507"
variation 1447
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="c"
/replace="t"
/db_xref="dbSNP:138106672"
variation 1451
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="c"
/replace="t"
/db_xref="dbSNP:375596188"
variation 1453
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="a"
/replace="g"
/db_xref="dbSNP:150563961"
exon 1463..1551
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/inference="alignment:Splign:1.39.8"
variation 1471
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="a"
/replace="g"
/db_xref="dbSNP:376669827"
variation 1475
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="c"
/replace="t"
/db_xref="dbSNP:187884820"
variation 1498
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="c"
/replace="t"
/db_xref="dbSNP:374437986"
variation 1499
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:192804372"
variation 1537
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="a"
/replace="g"
/db_xref="dbSNP:150013031"
exon 1552..1625
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/inference="alignment:Splign:1.39.8"
variation 1554
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="a"
/replace="g"
/db_xref="dbSNP:200468119"
variation 1560
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="a"
/replace="c"
/db_xref="dbSNP:199984918"
variation 1574
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="c"
/replace="t"
/db_xref="dbSNP:369910303"
variation 1580
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="c"
/replace="t"
/db_xref="dbSNP:150320996"
variation 1596
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="c"
/replace="t"
/db_xref="dbSNP:373377524"
variation 1601
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="c"
/replace="g"
/db_xref="dbSNP:377373494"
variation 1602
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="a"
/replace="g"
/db_xref="dbSNP:192525640"
variation 1616
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="g"
/replace="t"
/db_xref="dbSNP:201579026"
variation 1620
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="a"
/replace="c"
/db_xref="dbSNP:369251819"
exon 1626..1807
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/inference="alignment:Splign:1.39.8"
variation 1632
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="a"
/replace="g"
/db_xref="dbSNP:374554654"
variation 1644
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="a"
/replace="g"
/db_xref="dbSNP:368028255"
variation 1645
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="a"
/replace="t"
/db_xref="dbSNP:372591096"
variation 1649
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="a"
/replace="g"
/db_xref="dbSNP:375478387"
variation 1663
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:184793762"
variation 1677
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="a"
/replace="g"
/db_xref="dbSNP:372616878"
variation 1686
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="a"
/replace="g"
/db_xref="dbSNP:199893924"
variation 1711
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="c"
/replace="t"
/db_xref="dbSNP:368669536"
variation 1721
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="c"
/replace="t"
/db_xref="dbSNP:201807567"
variation 1724
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="c"
/replace="t"
/db_xref="dbSNP:376270807"
variation 1729
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="c"
/replace="t"
/db_xref="dbSNP:369287120"
variation 1742
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="c"
/replace="t"
/db_xref="dbSNP:200935874"
variation 1761
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="c"
/replace="t"
/db_xref="dbSNP:200195814"
variation 1785
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="a"
/replace="g"
/db_xref="dbSNP:143992362"
exon 1808..2564
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/inference="alignment:Splign:1.39.8"
variation 1813
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="c"
/replace="t"
/db_xref="dbSNP:370976650"
variation 1814
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="a"
/replace="g"
/db_xref="dbSNP:372754678"
variation 1830
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="a"
/replace="g"
/db_xref="dbSNP:201789958"
variation 1835
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="c"
/replace="t"
/db_xref="dbSNP:373765394"
variation 1836
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="a"
/replace="g"
/db_xref="dbSNP:367607226"
variation 1840
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="a"
/replace="g"
/db_xref="dbSNP:201008825"
variation 1850
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="c"
/replace="t"
/db_xref="dbSNP:142898449"
variation 1862
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="c"
/replace="t"
/db_xref="dbSNP:111560052"
STS 1891..2240
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/standard_name="SHGC-146903"
/db_xref="UniSTS:172712"
variation 1892
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="a"
/replace="g"
/db_xref="dbSNP:115741058"
variation 1895
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="a"
/replace="g"
/db_xref="dbSNP:371632757"
variation 1901
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="c"
/replace="t"
/db_xref="dbSNP:147009675"
variation 1904
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="a"
/replace="g"
/db_xref="dbSNP:72891155"
variation 1907
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="a"
/replace="g"
/db_xref="dbSNP:200377613"
variation 1913
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="a"
/replace="c"
/db_xref="dbSNP:199568695"
variation 1943
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="c"
/replace="g"
/db_xref="dbSNP:373858860"
variation 1948
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="a"
/replace="g"
/db_xref="dbSNP:141880205"
variation 1966..1967
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace=""
/replace="ggggggggg"
/db_xref="dbSNP:140189896"
variation 1970
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="c"
/replace="g"
/db_xref="dbSNP:28705211"
variation 1973
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="a"
/replace="g"
/db_xref="dbSNP:367975128"
variation 1984
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="a"
/replace="g"
/db_xref="dbSNP:140019196"
variation 1987
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="c"
/replace="t"
/db_xref="dbSNP:79133198"
variation 1990
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="c"
/replace="t"
/db_xref="dbSNP:201438052"
variation 1991
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="a"
/replace="g"
/db_xref="dbSNP:146302352"
variation 1993
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="c"
/replace="t"
/db_xref="dbSNP:150067459"
variation 1994
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="a"
/replace="g"
/db_xref="dbSNP:148779938"
variation 2009
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="a"
/replace="g"
/db_xref="dbSNP:200240051"
variation 2025
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="a"
/replace="c"
/db_xref="dbSNP:188543688"
variation 2030
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="c"
/replace="t"
/db_xref="dbSNP:147810658"
variation 2048
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="c"
/replace="g"
/db_xref="dbSNP:374466033"
variation 2068
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="a"
/replace="t"
/db_xref="dbSNP:371026821"
variation 2135
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="c"
/replace="t"
/db_xref="dbSNP:368600246"
variation 2144
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="a"
/replace="g"
/db_xref="dbSNP:61531461"
variation 2183..2186
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace=""
/replace="ttat"
/db_xref="dbSNP:142545439"
variation 2184..2187
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace=""
/replace="tatt"
/db_xref="dbSNP:374537094"
variation 2189
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="a"
/replace="t"
/db_xref="dbSNP:1132832"
variation 2191
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace=""
/replace="tatt"
/db_xref="dbSNP:59448239"
variation 2195
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="c"
/replace="t"
/db_xref="dbSNP:3935066"
variation 2202
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="a"
/replace="g"
/db_xref="dbSNP:368567896"
STS 2334..2476
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/standard_name="RH103110"
/db_xref="UniSTS:97444"
variation 2418
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="a"
/replace="c"
/db_xref="dbSNP:115880359"
variation 2437
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:9697711"
variation 2441
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="c"
/replace="t"
/db_xref="dbSNP:374801380"
variation 2488
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="c"
/replace="t"
/db_xref="dbSNP:13303351"
variation 2500
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="c"
/replace="t"
/db_xref="dbSNP:116837742"
variation 2512..2513
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace=""
/replace="gg"
/db_xref="dbSNP:34612277"
variation 2514
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:111689814"
polyA_signal 2539..2544
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
polyA_site 2564
/gene="KLHL17"
/gene_synonym="RP11-54O7.6"
ORIGIN
agtgagcgacacagagcgggccgccaccgccgagcagccctccggcagtctccgcgtccgttaagcccgcgggtcctccgcgaatcggcggtgggtccggcagccgaatgcagccccgcagcgagcgcccggccggcaggacgcagagcccggagcacggcagcccggggcccgggcccgaggcgccgccgcctccaccgccgcagccgccggcccccgaggcagagcgcacgcggccccggcaggctcggcccgcagcccccatggagggagccgtgcagctgctgagccgcgagggccacagcgtggcccacaactccaagcggcactaccacgatgccttcgtggccatgagccgcatgcgccagcgcggcctcctgtgcgacatcgtcctgcacgtggctgccaaggagatccgtgcgcacaaagtggtgctggcctcctgcagcccctacttccacgccatgttcacaaatgagatgagcgagagccgccagacccacgtgacgctgcacgacatcgaccctcaggccttggaccagctggtgcagtttgcctacacggctgagattgtggtgggcgagggcaatgtgcagactctgctcccagccgccagtctcctgcagctgaatggcgtccgagacgcttgctgcaagtttctactgagtcagctcgacccctccaactgcctgggtatccggggctttgccgatgcgcactcctgcagcgacctgctcaaggccgcccacaggtacgtgctgcagcacttcgtggacgtggccaagaccgaggagtttatgctgctgcccctgaaacaggttctggaactggtctctagcgacagcctgaacgtgccttcagaggaggaggtctaccgagccgtcctgagctgggtgaaacacgacgtggacgcccgcaggcagcatgtcccacggctcatgaagtgtgtgcggctgcccttgctgagccgcgacttcctgctgggccacgtggatgccgagagcctggtgaggcaccaccctgactgcaaggacctcctcatcgaggccctgaagttccacctgctgcctgagcagaggggcgtcctaggcaccagccgcacacgtccccggcgctgcgagggggccgggcctgtgctttttgctgtgggcggcgggagcctgtttgccatccacggagactgtgaggcctacgacacgcgcaccgaccgctggcacgtggtggcctccatgtccacgcgccgggcccgggtgggagtggctgcggtggggaaccggctctatgctgtgggcggctatgatgggacctcagacctggctaccgtggagtcctacgaccccgtgactaacacgtggcagccggaggtgtccatgggcacaaggcgaagctgcctgggtgtggccgccttgcatggactcctgtactcggccggcggctatgacggggcctcctgcctgaacagtgctgaacgctacgaccccctgaccggaacgtggacgtccgtcgctgccatgagcacccggaggcgctatgtgcgagtggccacgcttgatgggaacctgtatgctgtgggcggctacgacagctcctcacacctggccactgtggagaagtatgagccccaggtgaacgtgtggtcgcccgtggcgtccatgctgagccgacgcagctcagcgggcgtggccgtgctggagggtgccctgtacgtggcagggggcaacgacggcaccagctgcctcaactcggtagagagatacagtccaaaggctggagcctgggaaagcgtggcgcccatgaatatccgcaggagcacgcatgacctggtggccatggacggatggttgtacgccgtggggggtaacgacggtagctccagcctcaactccatcgagaagtacaacccgaggaccaacaagtgggtggccgcatcctgcatgttcacccggcgcagcagtgtgggtgtggcggtgctggagctgctcaatttcccgccgccatcctccccgacgctgtccgtgtcctccaccagcctctgacccacctaccaccagaggcctgcagcctcccacatgccttaaggggaccgtggcccccaccagggacgtcctgcgccatccgttcacgtctctgcatccattccttcatgtctttatttagttgtttatttatttagttatttatcttatttattgaggggtgaggagtgccacggctgcccgtttacacctttagcgtctggtcctcctgcgtgtcctcccctccactgcctgcatggggggcgcggggagtgaccaggcgggggcctcaccgccccagggccgttgcctgctcagaccttgcaggctgtggagcaagaggccctgggtctctccaagcagctgcagaccccagctcgaattttgcacatggcggggtcccgggaagggtggggagcagttgtccttcctgtcgtcgtctgccgtgtgccatctttcctggatcttgtagtgggtgcacacgcgtgcactgggaccccacacagcaatacgagtccaacttaataaacacatttctggggttcctcaaaaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:339451 -> Molecular function: GO:0031208 [POZ domain binding] evidence: IEA
GeneID:339451 -> Molecular function: GO:0032947 [protein complex scaffold] evidence: ISS
GeneID:339451 -> Molecular function: GO:0051015 [actin filament binding] evidence: IEA
GeneID:339451 -> Biological process: GO:0007420 [brain development] evidence: IEA
GeneID:339451 -> Biological process: GO:0016567 [protein ubiquitination] evidence: IEA
GeneID:339451 -> Biological process: GO:0030036 [actin cytoskeleton organization] evidence: ISS
GeneID:339451 -> Cellular component: GO:0005886 [plasma membrane] evidence: IEA
GeneID:339451 -> Cellular component: GO:0014069 [postsynaptic density] evidence: IEA
GeneID:339451 -> Cellular component: GO:0015629 [actin cytoskeleton] evidence: ISS
GeneID:339451 -> Cellular component: GO:0030054 [cell junction] evidence: IEA
GeneID:339451 -> Cellular component: GO:0032839 [dendrite cytoplasm] evidence: IEA
GeneID:339451 -> Cellular component: GO:0043025 [neuronal cell body] evidence: IEA
GeneID:339451 -> Cellular component: GO:0045211 [postsynaptic membrane] evidence: IEA
by
@meso_cacase at
DBCLS
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