2024-04-18 12:51:54, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001272082 2042 bp mRNA linear PRI 17-APR-2013 DEFINITION Homo sapiens shisa homolog 5 (Xenopus laevis) (SHISA5), transcript variant 6, mRNA. ACCESSION NM_001272082 VERSION NM_001272082.1 GI:441418797 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 2042) AUTHORS So,H.C., Fong,P.Y., Chen,R.Y., Hui,T.C., Ng,M.Y., Cherny,S.S., Mak,W.W., Cheung,E.F., Chan,R.C., Chen,E.Y., Li,T. and Sham,P.C. TITLE Identification of neuroglycan C and interacting partners as potential susceptibility genes for schizophrenia in a Southern Chinese population JOURNAL Am. J. Med. Genet. B Neuropsychiatr. Genet. 153B (1), 103-113 (2010) PUBMED 19367581 REMARK GeneRIF: Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator) REFERENCE 2 (bases 1 to 2042) AUTHORS Draeby,I., Woods,Y.L., la Cour,J.M., Mollerup,J., Bourdon,J.C. and Berchtold,M.W. TITLE The calcium binding protein ALG-2 binds and stabilizes Scotin, a p53-inducible gene product localized at the endoplasmic reticulum membrane JOURNAL Arch. Biochem. Biophys. 467 (1), 87-94 (2007) PUBMED 17889823 REMARK GeneRIF: ALG-2 binding to Scotin is strictly calcium dependent, indicating a role of this interaction in calcium signaling pathways REFERENCE 3 (bases 1 to 2042) AUTHORS Ludes-Meyers,J.H., Kil,H., Bednarek,A.K., Drake,J., Bedford,M.T. and Aldaz,C.M. TITLE WWOX binds the specific proline-rich ligand PPXY: identification of candidate interacting proteins JOURNAL Oncogene 23 (29), 5049-5055 (2004) PUBMED 15064722 REFERENCE 4 (bases 1 to 2042) AUTHORS Matsuda,A., Suzuki,Y., Honda,G., Muramatsu,S., Matsuzaki,O., Nagano,Y., Doi,T., Shimotohno,K., Harada,T., Nishida,E., Hayashi,H. and Sugano,S. TITLE Large-scale identification and characterization of human genes that activate NF-kappaB and MAPK signaling pathways JOURNAL Oncogene 22 (21), 3307-3318 (2003) PUBMED 12761501 REFERENCE 5 (bases 1 to 2042) AUTHORS Bourdon,J.C., Renzing,J., Robertson,P.L., Fernandes,K.N. and Lane,D.P. TITLE Scotin, a novel p53-inducible proapoptotic protein located in the ER and the nuclear membrane JOURNAL J. Cell Biol. 158 (2), 235-246 (2002) PUBMED 12135983 REMARK GeneRIF: Scotin plays a role in p53-dependent apoptosis COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from DA046900.1, BC001463.2, AL832568.1, AI718508.1 and AF520698.1. Summary: This gene encodes a member of the shisa family. The encoded protein is localized to the endoplasmic reticulum, and together with p53 induces apoptosis in a caspase-dependent manner. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]. Transcript Variant: This variant (6) contains an alternate 5' terminal exon, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (d) has a distinct N-terminus and is shorter than isoform a. ##Evidence-Data-START## Transcript exon combination :: DA046900.1, BC001463.2 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025081, ERS025082 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-184 DA046900.1 1-184 185-275 BC001463.2 1-91 276-1964 AL832568.1 83-1771 1965-2008 AI718508.1 1-44 c 2009-2042 AF520698.1 2133-2166 FEATURES Location/Qualifiers source 1..2042 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="3" /map="3p21.31" gene 1..2042 /gene="SHISA5" /gene_synonym="SCOTIN" /note="shisa homolog 5 (Xenopus laevis)" /db_xref="GeneID:51246" /db_xref="HGNC:30376" /db_xref="MIM:607290" exon 1..324 /gene="SHISA5" /gene_synonym="SCOTIN" /inference="alignment:Splign:1.39.8" misc_feature 248..250 /gene="SHISA5" /gene_synonym="SCOTIN" /note="upstream in-frame stop codon" variation 284 /gene="SHISA5" /gene_synonym="SCOTIN" /replace="g" /replace="t" /db_xref="dbSNP:11544094" CDS 320..733 /gene="SHISA5" /gene_synonym="SCOTIN" /note="isoform d is encoded by transcript variant 6; putative NF-kappa-B-activating protein 120" /codon_start=1 /product="protein shisa-5 isoform d" /protein_id="NP_001259011.1" /db_xref="GI:441418798" /db_xref="GeneID:51246" /db_xref="HGNC:30376" /db_xref="MIM:607290" /translation="
MGFGATLAVGLTIFVLSVVTIIICFTCSCCCLYKTCRRPRPVVTTTTSTTVVHAPYPQPPSVPPSYPGPSYQGYHTMPPQPGMPAAPYPMQYPPPYPAQPMGPPAYHETLAGGAAAPYPASQPPYNPAYMDAPKAAL
" misc_feature <323..>442 /gene="SHISA5" /gene_synonym="SCOTIN" /note="Wnt and FGF inhibitory regulator; Region: Shisa; pfam13908" /db_xref="CDD:206079" exon 325..440 /gene="SHISA5" /gene_synonym="SCOTIN" /inference="alignment:Splign:1.39.8" exon 441..653 /gene="SHISA5" /gene_synonym="SCOTIN" /inference="alignment:Splign:1.39.8" exon 654..2042 /gene="SHISA5" /gene_synonym="SCOTIN" /inference="alignment:Splign:1.39.8" variation 1669 /gene="SHISA5" /gene_synonym="SCOTIN" /replace="a" /replace="g" /db_xref="dbSNP:1046093" variation 1793 /gene="SHISA5" /gene_synonym="SCOTIN" /replace="c" /replace="t" /db_xref="dbSNP:1062992" polyA_signal 1945..1950 /gene="SHISA5" /gene_synonym="SCOTIN" polyA_site 1964 /gene="SHISA5" /gene_synonym="SCOTIN" /note="The 3' most polyA site has not been determined. This is the predominant polyA site." ORIGIN
gcattctgaggtcaggccctgtaggcttggctcagggaggcagctctgggaggcaaatggggcacctctgcttcccctcctccccggcccccgccccttggctccttggctgctagccggctgctgggcggggccatcctgtgtctttaagagggtggaacggggcttcgcgtctgtgcttcctgtggctgacgtcatctggaggagatttgctttctttttctccaaaaggggaggaaattgaaactgagtggcccacgatgggaagaggggaaagcccaggggtacaggaggcctctgggtgaaggcagaggctaacatggggttcggagcgaccttggccgttggcctgaccatctttgtgctgtctgtcgtcactatcatcatctgcttcacctgctcctgctgctgcctttacaagacgtgccgccgaccacgtccggttgtcaccaccaccacatccaccactgtggtgcatgccccttatcctcagcctccaagtgtgccgcccagctaccctggaccaagctaccagggctaccacaccatgccgcctcagccagggatgccagcagcaccctacccaatgcagtacccaccaccttacccagcccagcccatgggcccaccggcctaccacgagaccctggctggaggagcagccgcgccctaccccgccagccagcctccttacaacccggcctacatggatgccccgaaggcggccctctgagcattccctggcctctctggctgccacttggttatgttgtgtgtgtgcgtgagtggtgtgcaggcgcggttccttacgccccatgtgtgctgtgtgtgtccaggcacggttccttacgccccatgtgtgctgtgtgtgtcctgcctgtatatgtggcttcctctgatgctgacaaggtggggaacaatccttgccagagtgggctgggaccagactttgttctcttcctcacctgaaattatgcttcctaaaatctcaagccaaactcaaagaatggggtggtggggggcaccctgtgaggtggcccctgagaggtgggggcctctccagggcacatctggagttcttctccagcttaccctagggtgaccaagtagggcctgtcacaccagggtggcgcagctttctgtgtgatgcagatgtgtcctggtttcggcagcgtagccagctgctgcttgaggccatggctcgtccccggagttgggggtacccgttgcagagccagggacatgatgcaggcgaagcttgggatctggccaagttggactttgatcctttgggcagatgtcccattgctccctggagcctgtcatgcctgttggggatcaggcagcctcctgatgccagaacacctcaggcagagccctactcagctgtacctgtctgcctggactgtcccctgtccccgcatctcccctgggaccagctggagggccacatgcacacacagcctagctgcccccagggagctctgctgcccttgctggccctgcccttcccacaggtgagcagggctcctgtccaccagcacactcagttctcttccctgcagtgttttcattttattttagccaaacattttgcctgttttctgtttcaaacatgatagttgatatgagactgaaacccctgggttgtggagggaaattggctcagagatggacaacctggcaactgtgagtccctgcttcccgacaccagcctcatggaatatgcaacaactcctgtaccccagtccacggtgttctggcagcagggacacctgggccaatgggccatctggaccaaaggtggggtgtggggccctggatggcagctctggcccagacatgaatacctcgtgttcctcctccctctattactgtttcaccagagctgtcttagctcaaatctgttgtgtttctgagtctagggtctgtacacttgtttataataaatgcaatcgtttggagctgctgccccctttcttcctggcctcggctgctggaattggaatcaggctgtactctttccatccatttgggcttct
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ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:51246 -> Molecular function: GO:0004871 [signal transducer activity] evidence: IMP GeneID:51246 -> Molecular function: GO:0005515 [protein binding] evidence: IPI GeneID:51246 -> Molecular function: GO:0050699 [WW domain binding] evidence: IPI GeneID:51246 -> Biological process: GO:0006915 [apoptotic process] evidence: IEA GeneID:51246 -> Biological process: GO:0006917 [induction of apoptosis] evidence: IEA GeneID:51246 -> Biological process: GO:0007165 [signal transduction] evidence: IMP GeneID:51246 -> Biological process: GO:0043123 [positive regulation of I-kappaB kinase/NF-kappaB cascade] evidence: IMP GeneID:51246 -> Cellular component: GO:0005789 [endoplasmic reticulum membrane] evidence: IEA GeneID:51246 -> Cellular component: GO:0016021 [integral to membrane] evidence: IEA GeneID:51246 -> Cellular component: GO:0031965 [nuclear membrane] evidence: IEA
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