2024-04-24 08:31:10, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001135032 1872 bp mRNA linear PRI 15-JUN-2013 DEFINITION Homo sapiens eva-1 homolog A (C. elegans) (EVA1A), transcript variant 1, mRNA. ACCESSION NM_001135032 VERSION NM_001135032.1 GI:205277348 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 1872) AUTHORS Kamboh,M.I., Wang,X., Kao,A.H., Barmada,M.M., Clarke,A., Ramsey-Goldman,R., Manzi,S. and Demirci,F.Y. TITLE Genome-wide association study of antiphospholipid antibodies JOURNAL Autoimmune Dis 2013, 761046 (2013) PUBMED 23509613 REFERENCE 2 (bases 1 to 1872) AUTHORS Comuzzie,A.G., Cole,S.A., Laston,S.L., Voruganti,V.S., Haack,K., Gibbs,R.A. and Butte,N.F. TITLE Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population JOURNAL PLoS ONE 7 (12), E51954 (2012) PUBMED 23251661 REFERENCE 3 (bases 1 to 1872) AUTHORS Sun,W., Ma,X.M., Bai,J.P., Zhang,G.Q., Zhu,Y.J., Ma,H.M., Guo,H., Chen,Y.Y. and Ding,J.B. TITLE Transmembrane protein 166 expression in esophageal squamous cell carcinoma in Xinjiang, China JOURNAL Asian Pac. J. Cancer Prev. 13 (8), 3713-3716 (2012) PUBMED 23098460 REMARK GeneRIF: Low TMEM166 mRNA and protein expression is associated with esophageal squamous cell carcinoma. REFERENCE 4 (bases 1 to 1872) AUTHORS Wang,L., Yu,C., Lu,Y., He,P., Guo,J., Zhang,C., Song,Q., Ma,D., Shi,T. and Chen,Y. TITLE TMEM166, a novel transmembrane protein, regulates cell autophagy and apoptosis JOURNAL Apoptosis 12 (8), 1489-1502 (2007) PUBMED 17492404 REMARK GeneRIF: TMEM166 is a novel regulator involved in both autophagy and apoptosis. REFERENCE 5 (bases 1 to 1872) AUTHORS Wan,D., Gong,Y., Qin,W., Zhang,P., Li,J., Wei,L., Zhou,X., Li,H., Qiu,X., Zhong,F., He,L., Yu,J., Yao,G., Jiang,H., Qian,L., Yu,Y., Shu,H., Chen,X., Xu,H., Guo,M., Pan,Z., Chen,Y., Ge,C., Yang,S. and Gu,J. TITLE Large-scale cDNA transfection screening for genes related to cancer development and progression JOURNAL Proc. Natl. Acad. Sci. U.S.A. 101 (44), 15724-15729 (2004) PUBMED 15498874 REMARK Erratum:[Proc Natl Acad Sci U S A. 2004 Dec 14:101(50):17565] COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from BP276065.1, BE892427.1, BC016157.1 and AW016395.1. Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 both encode the same protein. ##Evidence-Data-START## Transcript exon combination :: BC016157.1, BU526860.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025097 [ECO:0000348] ##Evidence-Data-END## PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-150 BP276065.1 1-150 151-356 BE892427.1 103-308 357-1703 BC016157.1 293-1639 1704-1872 AW016395.1 1-169 c FEATURES Location/Qualifiers source 1..1872 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="2" /map="2p12" gene 1..1872 /gene="EVA1A" /gene_synonym="FAM176A; TMEM166" /note="eva-1 homolog A (C. elegans)" /db_xref="GeneID:84141" /db_xref="HGNC:25816" exon 1..287 /gene="EVA1A" /gene_synonym="FAM176A; TMEM166" /inference="alignment:Splign:1.39.8" misc_feature 116..118 /gene="EVA1A" /gene_synonym="FAM176A; TMEM166" /note="upstream in-frame stop codon" exon 288..410 /gene="EVA1A" /gene_synonym="FAM176A; TMEM166" /inference="alignment:Splign:1.39.8" variation 354 /gene="EVA1A" /gene_synonym="FAM176A; TMEM166" /replace="c" /replace="g" /db_xref="dbSNP:11538748" exon 411..563 /gene="EVA1A" /gene_synonym="FAM176A; TMEM166" /inference="alignment:Splign:1.39.8" CDS 479..937 /gene="EVA1A" /gene_synonym="FAM176A; TMEM166" /note="transmembrane protein 166; protein FAM176A; family with sequence similarity 176, member A" /codon_start=1 /product="protein eva-1 homolog A" /protein_id="NP_001128504.1" /db_xref="GI:205277349" /db_xref="CCDS:CCDS1959.1" /db_xref="GeneID:84141" /db_xref="HGNC:25816" /translation="
MRLPLSHSPEHVEMALLSNILAAYSFVSENPERAALYFVSGVCIGLVLTLAALVIRISCHTDCRRRPGKKFLQDRESSSDSSDSEDGSEDTVSDLSVRRHRRFERTLNKNVFTSAEELERAQRLEERERIIREIWMNGQPEVPGTRSLNRYY
" misc_feature 479..658 /gene="EVA1A" /gene_synonym="FAM176A; TMEM166" /experiment="experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q9H8M9.1); Region: Necessary for the localization and biological activity" misc_feature 581..643 /gene="EVA1A" /gene_synonym="FAM176A; TMEM166" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q9H8M9.1); transmembrane region" exon 564..1855 /gene="EVA1A" /gene_synonym="FAM176A; TMEM166" /inference="alignment:Splign:1.39.8" STS 1142..1339 /gene="EVA1A" /gene_synonym="FAM176A; TMEM166" /standard_name="RH69495" /db_xref="UniSTS:80382" variation 1813 /gene="EVA1A" /gene_synonym="FAM176A; TMEM166" /replace="a" /replace="c" /db_xref="dbSNP:2215872" ORIGIN
aaggaaatgagacaaccttttcctcccactgactcgggctcctgcagcttctgcggggcttggcgccgccgtccgtgagcacccaggccgggaccccacatccccaggccagccctgaccccggcggcccctccgccgggattcctttccgaggtactggtgccggcccaagacccgggcagcgctttgtcgtgtccgcccctcagtgatcagctccgggtccccctgctcggccccgcgcgccccaagcgcagtccccggaagtgcgcgccggggccccagcaaagagtctgagaagccaactggggccaaacaagttttagaacctctactggctgatgccaacatcatcagagatgaactgttcttaccagaaacttctctgctcctgacaccccacctctccccagaagagaagaaggagagtggccacgttgattcagccaagcacctccaggaggtcccctctggatgtcccatgaggctgcccctcagccacagcccagagcacgtggagatggctttgctcagcaacatcctagcggcctattcctttgtctcagaaaatcctgagcgagcagctctgtactttgtttctggcgtgtgcatcgggctggtgctgaccctggctgctctggtgataaggatctcttgccacacagactgcaggcggcgtcccgggaagaagttcctgcaggacagagagagcagcagcgacagcagcgacagcgaggatggcagtgaggacaccgtgtccgatctctccgtgcggagacaccgccgcttcgagaggactttgaacaagaatgtgttcacctctgcggaggagctggagcgcgcccagcggctggaggagcgcgagcgcatcatcagggagatctggatgaatggccagcctgaggtgcccgggaccaggagcctgaatcgctactattagggagcagcaggaccccggaaaccactggaggccgcctggaaaggagagcgtctgcagggacagtgggcacaaggaactgaacccagctctgctaatattgtgatttcagagaaaaagcaggacatgccccttttctagccaggaggattgctcctttttggccaaatgtatggagaagtagaaaaatcaaagcagttcatcaccctttccaggtctcggaatggtgctgaaaaatcctctccaacactgtggatggagatcggagaaacgcgactgtggtttctcttgatttctgaggatctcagaagtttcagcagacttccttgctctgtgttattcctttgcaaaaggaaagatcattatagcatgagggctgggaatagcagggtgaacttaacccaataaatgcaatttcctaaatgacttcatgctatggaggtgattctgattcaaatagcatgatccatgcttattatttaaggctgatttttaaaatcttgtgttgcaagggcaacctcgtccattttaactggcacctcagggattaaaatcctactttttagtgtagttcccacctcattcatgaaaatgaatagaactattgtattatgggagatgtgtcagtgaactagaaaatgtcaataacctcaaaggatgaagggtttttattttaaatagtttataaaatatatattgacatgcatatttgaaaatgctgcataaaaataaaagtggtgtgttttccccctctttggagacaagaaaattttattatgactctagataattgtgattttaaacactttgtttttttttttttttttaattggatttcaaagaaaagaatggaaatgagaggtaaggattaaagccaaagttaggatgggaattaaaaaaataaacattacataaaatcttaaaaaaaaaaaaaaaaa
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ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:84141 -> Biological process: GO:0006914 [autophagy] evidence: IEA GeneID:84141 -> Biological process: GO:0006915 [apoptotic process] evidence: IEA GeneID:84141 -> Cellular component: GO:0005765 [lysosomal membrane] evidence: IEA GeneID:84141 -> Cellular component: GO:0005789 [endoplasmic reticulum membrane] evidence: IEA GeneID:84141 -> Cellular component: GO:0005886 [plasma membrane] evidence: IDA GeneID:84141 -> Cellular component: GO:0016021 [integral to membrane] evidence: IEA GeneID:84141 -> Cellular component: GO:0043231 [intracellular membrane-bounded organelle] evidence: IDA
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