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2024-04-16 21:58:58, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001040182 2237 bp mRNA linear PRI 17-APR-2013 DEFINITION Homo sapiens claudin domain containing 1 (CLDND1), transcript variant 4, mRNA. ACCESSION NM_001040182 VERSION NM_001040182.1 GI:93588619 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 2237) AUTHORS Liu,Y., Sun,W., Zhang,K., Zheng,H., Ma,Y., Lin,D., Zhang,X., Feng,L., Lei,W., Zhang,Z., Guo,S., Han,N., Tong,W., Feng,X., Gao,Y. and Cheng,S. TITLE Identification of genes differentially expressed in human primary lung squamous cell carcinoma JOURNAL Lung Cancer 56 (3), 307-317 (2007) PUBMED 17316888 REMARK GeneRIF: A cDNA library consisting of 220 upregulated genes in tumour tissue was established and named as LSCC. Differential expression was confirmed in five of these genes, including IGFBP5, SQLE, RAP2B, CLDN1, and TBL1XR1. REFERENCE 2 (bases 1 to 2237) AUTHORS Lamesch,P., Li,N., Milstein,S., Fan,C., Hao,T., Szabo,G., Hu,Z., Venkatesan,K., Bethel,G., Martin,P., Rogers,J., Lawlor,S., McLaren,S., Dricot,A., Borick,H., Cusick,M.E., Vandenhaute,J., Dunham,I., Hill,D.E. and Vidal,M. TITLE hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes JOURNAL Genomics 89 (3), 307-315 (2007) PUBMED 17207965 REFERENCE 3 (bases 1 to 2237) AUTHORS Fayein,N.A., Stankoff,B., Auffray,C. and Devignes,M.D. TITLE Characterization of tissue expression and full-length coding sequence of a novel human gene mapping at 3q12.1 and transcribed in oligodendrocytes JOURNAL Gene 289 (1-2), 119-129 (2002) PUBMED 12036590 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from DB461184.1, AC021660.16, BC095441.1 and AA811441.1. Transcript Variant: This variant (4) includes an alternate 5' exon and may initiate transcription at an upstream AUG, compared to variant 1. Variant 4 encodes an isoform with a longer N-terminus (b), compared to isoform a. ##Evidence-Data-START## Transcript exon combination :: BC095441.1, BI667027.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025082, ERS025084 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-11 DB461184.1 1-11 12-12 AC021660.16 119164-119164 13-185 DB461184.1 13-185 186-2218 BC095441.1 1-2033 2219-2237 AA811441.1 1-19 c FEATURES Location/Qualifiers source 1..2237 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="3" /map="3q12.1" gene 1..2237 /gene="CLDND1" /gene_synonym="C3orf4; GENX-3745" /note="claudin domain containing 1" /db_xref="GeneID:56650" /db_xref="HGNC:1322" exon 1..218 /gene="CLDND1" /gene_synonym="C3orf4; GENX-3745" /inference="alignment:Splign:1.39.8" misc_feature 191..193 /gene="CLDND1" /gene_synonym="C3orf4; GENX-3745" /note="upstream in-frame stop codon" CDS 212..1042 /gene="CLDND1" /gene_synonym="C3orf4; GENX-3745" /note="isoform b is encoded by transcript variant 4; claudin domain containing 1 protein; claudin domain-containing protein 1; membrane protein GENX-3745" /codon_start=1 /product="claudin domain-containing protein 1 isoform b" /protein_id="NP_001035272.1" /db_xref="GI:93588620" /db_xref="CCDS:CCDS46877.1" /db_xref="GeneID:56650" /db_xref="HGNC:1322" /translation="
MGGDRLENKTSVSVASWSSLNARMDNRFATAFVIACVLSLISTIYMAASIGTDFWYEYRSPVQENSSDLNKSIWDEFISDEADEKTYNDALFRYNGTVGLWRRCITIPKNMHWYSPPERTESFDVVTKCVSFTLTEQFMEKFVDPGNHNSGIDLLRTYLWRCQFLLPFVSLGLMCFGALIGLCACICRSLYPTIATGILHLLAGLCTLGSVSCYVAGIELLHQKLELPDNVSGEFGWSFCLACVSAPLQFMASALFIWAAHTNRKEYTLMKAYRVA
"
misc_feature 281..283
/gene="CLDND1"
/gene_synonym="C3orf4; GENX-3745"
/note="Region: putative alternate translation initiation
site"
misc_feature 329..982
/gene="CLDND1"
/gene_synonym="C3orf4; GENX-3745"
/note="PMP-22/EMP/MP20/Claudin tight junction; Region:
Claudin_2; pfam13903"
/db_xref="CDD:206074"
exon 219..262
/gene="CLDND1"
/gene_synonym="C3orf4; GENX-3745"
/inference="alignment:Splign:1.39.8"
variation 250
/gene="CLDND1"
/gene_synonym="C3orf4; GENX-3745"
/replace="c"
/replace="g"
/db_xref="dbSNP:11553640"
exon 263..572
/gene="CLDND1"
/gene_synonym="C3orf4; GENX-3745"
/inference="alignment:Splign:1.39.8"
variation 266..267
/gene="CLDND1"
/gene_synonym="C3orf4; GENX-3745"
/replace="a"
/replace="c"
/db_xref="dbSNP:11553645"
variation 277
/gene="CLDND1"
/gene_synonym="C3orf4; GENX-3745"
/replace="c"
/replace="g"
/db_xref="dbSNP:11553648"
variation 291
/gene="CLDND1"
/gene_synonym="C3orf4; GENX-3745"
/replace="a"
/replace="g"
/db_xref="dbSNP:11553643"
variation 341
/gene="CLDND1"
/gene_synonym="C3orf4; GENX-3745"
/replace="a"
/replace="t"
/db_xref="dbSNP:11553647"
variation 357
/gene="CLDND1"
/gene_synonym="C3orf4; GENX-3745"
/replace="c"
/replace="g"
/db_xref="dbSNP:11553642"
variation 381
/gene="CLDND1"
/gene_synonym="C3orf4; GENX-3745"
/replace="a"
/replace="g"
/db_xref="dbSNP:11553639"
variation 459
/gene="CLDND1"
/gene_synonym="C3orf4; GENX-3745"
/replace="a"
/replace="g"
/db_xref="dbSNP:11553646"
variation 526
/gene="CLDND1"
/gene_synonym="C3orf4; GENX-3745"
/replace="a"
/replace="c"
/db_xref="dbSNP:11553650"
exon 573..683
/gene="CLDND1"
/gene_synonym="C3orf4; GENX-3745"
/inference="alignment:Splign:1.39.8"
exon 684..821
/gene="CLDND1"
/gene_synonym="C3orf4; GENX-3745"
/inference="alignment:Splign:1.39.8"
variation 775
/gene="CLDND1"
/gene_synonym="C3orf4; GENX-3745"
/replace="a"
/replace="t"
/db_xref="dbSNP:11553641"
variation 778
/gene="CLDND1"
/gene_synonym="C3orf4; GENX-3745"
/replace="c"
/replace="t"
/db_xref="dbSNP:35994971"
exon 822..2228
/gene="CLDND1"
/gene_synonym="C3orf4; GENX-3745"
/inference="alignment:Splign:1.39.8"
variation 964
/gene="CLDND1"
/gene_synonym="C3orf4; GENX-3745"
/replace="g"
/replace="t"
/db_xref="dbSNP:11553649"
STS 1024..1114
/gene="CLDND1"
/gene_synonym="C3orf4; GENX-3745"
/standard_name="D3S2932E"
/db_xref="UniSTS:150916"
variation 1947
/gene="CLDND1"
/gene_synonym="C3orf4; GENX-3745"
/replace="a"
/replace="g"
/db_xref="dbSNP:11553644"
STS 1991..2193
/gene="CLDND1"
/gene_synonym="C3orf4; GENX-3745"
/standard_name="D3S3109"
/db_xref="UniSTS:80916"
polyA_signal 2195..2200
/gene="CLDND1"
/gene_synonym="C3orf4; GENX-3745"
polyA_signal 2201..2206
/gene="CLDND1"
/gene_synonym="C3orf4; GENX-3745"
polyA_site 2218
/gene="CLDND1"
/gene_synonym="C3orf4; GENX-3745"
polyA_site 2228
/gene="CLDND1"
/gene_synonym="C3orf4; GENX-3745"
ORIGIN
tatcgccgcctcagacagctttcagtctgtccctcctacaactcccacaaggcccctcggccccgggccgcggcccggcccggagtgggggcgggcggaggcgcgggagttatggagggggcgggctctgcagggaagtgcgtcagaggaggcgcggggagagtagggtgctgtggtctgagctagagggtgaagctggcggagcaggaggatgggcggtgatagactagagaacaagacctctgtctccgtagcatcctggagcagtctgaatgccagaatggataaccgttttgctacagcatttgtaattgcttgtgtgcttagcctcatttccaccatctacatggcagcctccattggcacagacttctggtatgaatatcgaagtccagttcaagaaaattccagtgatttgaataaaagcatctgggatgaattcattagtgatgaggcagatgaaaagacttataatgatgcactttttcgatacaatggcacagtgggattgtggagacggtgtatcaccatacccaaaaacatgcattggtatagcccaccagaaaggacagagtcatttgatgtggtcacaaaatgtgtgagtttcacactaactgagcagttcatggagaaatttgttgatcccggaaaccacaatagcgggattgatctccttaggacctatctttggcgttgccagttccttttaccttttgtgagtttaggtttgatgtgctttggggctttgatcggactttgtgcttgcatttgccgaagcttatatcccaccattgccacgggcattctccatctccttgcaggtctgtgtacactgggctcagtaagttgttatgttgctggaattgaactactccaccagaaactagagctccctgacaatgtatccggtgaatttggatggtccttctgcctggcttgtgtctctgctcccttacagttcatggcttctgctctcttcatctgggctgctcacaccaaccggaaagagtacaccttaatgaaggcatatcgtgtggcatgagcaagaaactgcctgctttacaattgccatttttatttttttaaaataatactgatattttccccacctctcaattgtttttaatttttatttgtggatataccattttattatgaaaatctattttatttatacacattcaccactaaatacacacttaataccactaaaatttatgtggtttactttaagcgatgccatctttcaaataaactaatctaggtctagacagaaagaaatggatagagacttgacacaaatttatgaaagaaaattgggagtaggaatgtgaccgaaaacaagttgtgctaatgtctgttagacttttcagtaaaactaaagtaactgtatctgttcaactaaaaactctatattagtttctttgggaaacctctcatcgtcaaaactttatgttcactttgctgttgtagatagccagtcaaccagcagtattagtgctgttttcaaagatttaagctctataaaattgggaaattatctaagatcattttccctaagcattgacacatagcttcatctgaggtgagatatggcagctgtttgtatctgcactgtgtctgtctacaaaaagtgaaaaatacagtgtttacttgaaattttaactttgtaactgcaagaattccagttcagccgggcgaggattagtattatttttaactctccgtaagattttcagtaccaccaaattgttttggattttttttctttcctcttcacataccagggttattaaaagtgtgctttctttttacattatattacagttacaaggtaaaattcctcaactgctatttatttattccagcccagtactataaagaacgtttcaccataatgaccctccagagctgggaaacctaccacaagatctaaagttctggctgtccattaacctccaactatggtctttatttcttgtggtaatatgatgtgcctttccttgcctaaatcccttcctggtgtgtatcaacattatttaatgtcttctaattcagtcatttttttataagtatgtctataaacattgaactttaaaaaacttatttatttattccactactgtagcaattgacagattaaaaaaatgtaacttcataatttcttaccataacctcaatgtcttttttaaaaaataaaattaaaaatgaaaagagactcaattgtaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:56650 -> Cellular component: GO:0016021 [integral to membrane] evidence: IEA
by
@meso_cacase at
DBCLS
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