Home |
Help |
Advanced search
2024-04-20 08:27:00, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001048252 1683 bp mRNA linear PRI 09-JUN-2013
DEFINITION Homo sapiens cortexin 3 (CTXN3), transcript variant 1, mRNA.
ACCESSION NM_001048252 XM_932841 XM_943671
VERSION NM_001048252.2 GI:188497720
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 1683)
AUTHORS Panichareon,B., Nakayama,K., Iwamoto,S., Thurakitwannakarn,W. and
Sukhumsirichart,W.
TITLE Association of CTXN3-SLC12A2 polymorphisms and schizophrenia in a
Thai population
JOURNAL Behav Brain Funct 8, 27 (2012)
PUBMED 22643131
REMARK GeneRIF: Two single nucleotide polymophisms of the CTXN3 and
SLC12A2 genes are associated with risk of schizophrenia in a Thai
population.
Publication Status: Online-Only
REFERENCE 2 (bases 1 to 1683)
AUTHORS Potkin,S.G., Turner,J.A., Guffanti,G., Lakatos,A., Fallon,J.H.,
Nguyen,D.D., Mathalon,D., Ford,J., Lauriello,J. and Macciardi,F.
CONSRTM FBIRN
TITLE A genome-wide association study of schizophrenia using brain
activation as a quantitative phenotype
JOURNAL Schizophr Bull 35 (1), 96-108 (2009)
PUBMED 19023125
REMARK GeneRIF: Observational study and genome-wide association study of
gene-disease association. (HuGE Navigator)
REFERENCE 3 (bases 1 to 1683)
AUTHORS Wang,H.T., Chang,J.W., Guo,Z. and Li,B.G.
TITLE In silico-initiated cloning and molecular characterization of
cortexin 3, a novel human gene specifically expressed in the kidney
and brain, and well conserved in vertebrates
JOURNAL Int. J. Mol. Med. 20 (4), 501-510 (2007)
PUBMED 17786280
REMARK GeneRIF: Selective expression of CTXN3 in the kidney and brain, the
amino acid identity to cortexin, and its high conservation among
different species indicate that CTXN3 may be involved in a process
specifically restricted to kidney and brain tissue function.
COMMENT VALIDATED REFSEQ: This record has undergone validation or
preliminary review. The reference sequence was derived from
DA131605.1 and AB219764.1.
On May 16, 2008 this sequence version replaced gi:115392141.
Transcript Variant: This variant (1) utilizes an alternate first
exon. Transcript variants 1 and 2 encode the same protein.
##Evidence-Data-START##
Transcript exon combination :: AB219764.1, CK001565.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025082, ERS025084 [ECO:0000348]
##Evidence-Data-END##
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-23 DA131605.1 1-23
24-1683 AB219764.1 1-1660
FEATURES Location/Qualifiers
source 1..1683
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="5"
/map="5q23.2"
gene 1..1683
/gene="CTXN3"
/gene_synonym="KABE"
/note="cortexin 3"
/db_xref="GeneID:613212"
/db_xref="HGNC:31110"
exon 1..368
/gene="CTXN3"
/gene_synonym="KABE"
/inference="alignment:Splign:1.39.8"
variation 84
/gene="CTXN3"
/gene_synonym="KABE"
/replace="a"
/replace="c"
/db_xref="dbSNP:141648446"
variation 104
/gene="CTXN3"
/gene_synonym="KABE"
/replace="c"
/replace="t"
/db_xref="dbSNP:191072217"
variation 130
/gene="CTXN3"
/gene_synonym="KABE"
/replace="g"
/replace="t"
/db_xref="dbSNP:183076270"
variation 175
/gene="CTXN3"
/gene_synonym="KABE"
/replace="a"
/replace="g"
/db_xref="dbSNP:187944474"
variation 222
/gene="CTXN3"
/gene_synonym="KABE"
/replace="c"
/replace="t"
/db_xref="dbSNP:190463461"
variation 277
/gene="CTXN3"
/gene_synonym="KABE"
/replace="a"
/replace="g"
/db_xref="dbSNP:183011963"
exon 369..475
/gene="CTXN3"
/gene_synonym="KABE"
/inference="alignment:Splign:1.39.8"
variation 427
/gene="CTXN3"
/gene_synonym="KABE"
/replace="a"
/replace="g"
/db_xref="dbSNP:369139180"
variation 436
/gene="CTXN3"
/gene_synonym="KABE"
/replace="a"
/replace="c"
/db_xref="dbSNP:148391974"
variation 439
/gene="CTXN3"
/gene_synonym="KABE"
/replace="c"
/replace="t"
/db_xref="dbSNP:191863446"
exon 476..1683
/gene="CTXN3"
/gene_synonym="KABE"
/inference="alignment:Splign:1.39.8"
variation 511
/gene="CTXN3"
/gene_synonym="KABE"
/replace="c"
/replace="t"
/db_xref="dbSNP:118045245"
misc_feature 524..526
/gene="CTXN3"
/gene_synonym="KABE"
/note="upstream in-frame stop codon"
variation 533
/gene="CTXN3"
/gene_synonym="KABE"
/replace="a"
/replace="c"
/db_xref="dbSNP:200535255"
variation 537
/gene="CTXN3"
/gene_synonym="KABE"
/replace="a"
/replace="g"
/db_xref="dbSNP:200285737"
CDS 575..820
/gene="CTXN3"
/gene_synonym="KABE"
/note="kidney and brain-expressed protein"
/codon_start=1
/product="cortexin-3"
/protein_id="NP_001041717.1"
/db_xref="GI:115392142"
/db_xref="CCDS:CCDS34221.1"
/db_xref="GeneID:613212"
/db_xref="HGNC:31110"
/translation="
MDGGQPIPSSLVPLGNESADSSMSLEQKMTFVFVILLFIFLGILIVRCFRILLDPYRSMPTSTWADGLEGLEKGQFDHALA
"
misc_feature 575..817
/gene="CTXN3"
/gene_synonym="KABE"
/note="Cortexin of kidney; Region: Cortexin; pfam11057"
/db_xref="CDD:151503"
misc_feature 659..721
/gene="CTXN3"
/gene_synonym="KABE"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q4LDR2.1);
transmembrane region"
variation 586
/gene="CTXN3"
/gene_synonym="KABE"
/replace="a"
/replace="g"
/db_xref="dbSNP:143894118"
variation 593
/gene="CTXN3"
/gene_synonym="KABE"
/replace="a"
/replace="g"
/db_xref="dbSNP:145954174"
variation 607
/gene="CTXN3"
/gene_synonym="KABE"
/replace="a"
/replace="t"
/db_xref="dbSNP:139789028"
variation 610
/gene="CTXN3"
/gene_synonym="KABE"
/replace="c"
/replace="g"
/db_xref="dbSNP:45074"
variation 613
/gene="CTXN3"
/gene_synonym="KABE"
/replace="c"
/replace="t"
/db_xref="dbSNP:199834318"
variation 622
/gene="CTXN3"
/gene_synonym="KABE"
/replace="c"
/replace="t"
/db_xref="dbSNP:375454212"
variation 623
/gene="CTXN3"
/gene_synonym="KABE"
/replace="a"
/replace="g"
/db_xref="dbSNP:61743797"
variation 624
/gene="CTXN3"
/gene_synonym="KABE"
/replace="a"
/replace="t"
/db_xref="dbSNP:248709"
variation 637
/gene="CTXN3"
/gene_synonym="KABE"
/replace="c"
/replace="t"
/db_xref="dbSNP:184028256"
variation 643
/gene="CTXN3"
/gene_synonym="KABE"
/replace="c"
/replace="t"
/db_xref="dbSNP:2280170"
variation 646
/gene="CTXN3"
/gene_synonym="KABE"
/replace="c"
/replace="t"
/db_xref="dbSNP:188132166"
variation 724
/gene="CTXN3"
/gene_synonym="KABE"
/replace="g"
/replace="t"
/db_xref="dbSNP:200025270"
variation 739
/gene="CTXN3"
/gene_synonym="KABE"
/replace="a"
/replace="g"
/db_xref="dbSNP:201631910"
variation 757
/gene="CTXN3"
/gene_synonym="KABE"
/replace="a"
/replace="c"
/db_xref="dbSNP:368464050"
variation 775
/gene="CTXN3"
/gene_synonym="KABE"
/replace="a"
/replace="t"
/db_xref="dbSNP:370866029"
variation 785
/gene="CTXN3"
/gene_synonym="KABE"
/replace="a"
/replace="c"
/db_xref="dbSNP:147610610"
variation 802
/gene="CTXN3"
/gene_synonym="KABE"
/replace="c"
/replace="t"
/db_xref="dbSNP:142310306"
variation 823
/gene="CTXN3"
/gene_synonym="KABE"
/replace="c"
/replace="g"
/db_xref="dbSNP:367856467"
variation 878
/gene="CTXN3"
/gene_synonym="KABE"
/replace="a"
/replace="t"
/db_xref="dbSNP:114243151"
variation 894
/gene="CTXN3"
/gene_synonym="KABE"
/replace="a"
/replace="g"
/db_xref="dbSNP:148234170"
variation 1035
/gene="CTXN3"
/gene_synonym="KABE"
/replace="g"
/replace="t"
/db_xref="dbSNP:113670316"
STS 1076..1204
/gene="CTXN3"
/gene_synonym="KABE"
/standard_name="WI-13514"
/db_xref="UniSTS:18858"
variation 1090
/gene="CTXN3"
/gene_synonym="KABE"
/replace="a"
/replace="g"
/db_xref="dbSNP:373092149"
variation 1123
/gene="CTXN3"
/gene_synonym="KABE"
/replace="a"
/replace="g"
/db_xref="dbSNP:140205502"
variation 1189
/gene="CTXN3"
/gene_synonym="KABE"
/replace="a"
/replace="g"
/db_xref="dbSNP:181044035"
variation 1199
/gene="CTXN3"
/gene_synonym="KABE"
/replace="a"
/replace="g"
/db_xref="dbSNP:248708"
variation 1200
/gene="CTXN3"
/gene_synonym="KABE"
/replace="a"
/replace="g"
/db_xref="dbSNP:368868932"
variation 1255
/gene="CTXN3"
/gene_synonym="KABE"
/replace="c"
/replace="t"
/db_xref="dbSNP:150321324"
variation 1283
/gene="CTXN3"
/gene_synonym="KABE"
/replace="c"
/replace="t"
/db_xref="dbSNP:248707"
variation 1319
/gene="CTXN3"
/gene_synonym="KABE"
/replace="c"
/replace="t"
/db_xref="dbSNP:248706"
variation 1331
/gene="CTXN3"
/gene_synonym="KABE"
/replace="a"
/replace="c"
/db_xref="dbSNP:374099039"
variation 1351
/gene="CTXN3"
/gene_synonym="KABE"
/replace="c"
/replace="g"
/db_xref="dbSNP:137955368"
variation 1375
/gene="CTXN3"
/gene_synonym="KABE"
/replace="c"
/replace="t"
/db_xref="dbSNP:149452258"
STS 1382..1571
/gene="CTXN3"
/gene_synonym="KABE"
/standard_name="RH102093"
/db_xref="UniSTS:96427"
variation 1419
/gene="CTXN3"
/gene_synonym="KABE"
/replace="a"
/replace="t"
/db_xref="dbSNP:118171155"
variation 1533
/gene="CTXN3"
/gene_synonym="KABE"
/replace="c"
/replace="t"
/db_xref="dbSNP:370120143"
variation 1534
/gene="CTXN3"
/gene_synonym="KABE"
/replace="a"
/replace="g"
/db_xref="dbSNP:185483810"
variation 1596
/gene="CTXN3"
/gene_synonym="KABE"
/replace="g"
/replace="t"
/db_xref="dbSNP:199902524"
variation 1623
/gene="CTXN3"
/gene_synonym="KABE"
/replace="c"
/replace="t"
/db_xref="dbSNP:190738458"
polyA_signal 1663..1668
/gene="CTXN3"
/gene_synonym="KABE"
variation 1674
/gene="CTXN3"
/gene_synonym="KABE"
/replace="c"
/replace="t"
/db_xref="dbSNP:370634745"
variation 1676
/gene="CTXN3"
/gene_synonym="KABE"
/replace="a"
/replace="t"
/db_xref="dbSNP:116673667"
variation 1677
/gene="CTXN3"
/gene_synonym="KABE"
/replace="a"
/replace="g"
/db_xref="dbSNP:375045772"
ORIGIN
aatgctttcttgaagatgatttcagacacactgctaggatactgcctctactcgctgaagcagaatcctctgaagagttgctgaggcagaactgaaatcatggctcacctcaaagaagcagcagtattggccgttaatgatgcctcacacagaaagacgatgctcctttaactcggggttttaatgggaagtttctaagcctgaaacaacagctttagacctggggtgtgccatcagctgccttgcagctaccactgtctactgctttcacacagcgtggtcgggaagaatggaaactaaagaggcttgtaactacctgtaactgttccaccaggaaatggatcaagtgtttgttcagccagagccagtattaaaattagactctatttcctgagcacccacaaatggacctgacaaagggaagacacagatgtactgcgtgatgaggaaagcctatcaggattaaaatatggctataactcagcctctccagagtgcagccaccatgacctccgcagattgatgatggaagaaaagaaaaccaggatatcctgtgctctggcttccctggaccatggatggaggacagcccatcccctcatccctagtgccccttgggaacgaatcagcagattctagcatgtccctggagcagaaaatgacatttgtttttgtgattctgttgtttattttcttgggcattctcattgtccggtgcttccggattcttttggatccatatcgaagcatgccaacctctacctgggctgatggacttgaaggcctggagaaagggcagttcgaccatgcccttgcttaggagggatggtgtgggatctcctcctgaggagatgaagtgctttgtgtcttggtgaggattccctttatttagtgttctcaacaaatcaaatttaaacaatatttggtcccaggaccataatccattattccataaatatgcagttgggttaaagacatttgaggatgttggaaatggacacttatataactaatccaacataagaaggtttaaatttttatgtttgctcaatgaatgagtactcttaaaattgtgtgattgtgaaaccaagagcgttaatactgacatagatttgccatcaaacaaaacaccacctgatctgactaaagaataaaagactagaaaggatctcatatgaatctggtgacaaggccaggaagagatttccttgctctaattatgtctatatttgttttatttcatgggcacctatctgggtcctgagcagaatgaggaagattgtgctgaatggacccaaagtagtttcttgttttctcccaaagcagggagctttgggaagcaatggaaaagcttaaaagagatgattctgtccttggtaaatgtgagtgagaatagcgttttgtttttcaagtaaaacttaattcaaaggctacaaagttttaaaaactatttaccaagccaactacattatatgtattcatattaataacatgtgtagaggtagctatacattacttgaatttacactttacacaaatgatttaaaaaataggttgcaagtgcagcttaaagttttttttcaatgaaaagttaattgtttagaggagaagacttttatagtcttcagaggaatgtgtatttatgattgtatatagtcaccaaataaaacttttcaagaaaca
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:613212 -> Cellular component: GO:0016021 [integral to membrane] evidence: IEA
by
@meso_cacase at
DBCLS
This page is licensed under a Creative Commons Attribution 2.1 Japan License.