2024-03-28 22:00:54, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001033030 1538 bp mRNA linear PRI 17-MAR-2013 DEFINITION Homo sapiens Fas apoptotic inhibitory molecule (FAIM), transcript variant 1, mRNA. ACCESSION NM_001033030 VERSION NM_001033030.1 GI:74271910 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 1538) AUTHORS Bailey,S.D., Xie,C., Do,R., Montpetit,A., Diaz,R., Mohan,V., Keavney,B., Yusuf,S., Gerstein,H.C., Engert,J.C. and Anand,S. CONSRTM DREAM investigators TITLE Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study JOURNAL Diabetes Care 33 (10), 2250-2253 (2010) PUBMED 20628086 REMARK GeneRIF: Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) REFERENCE 2 (bases 1 to 1538) AUTHORS Li,G., Qu,L., Meng,G., Bai,X., Dai,K. and Zheng,X. TITLE Crystallization and preliminary X-ray crystallographic studies of human FAIM protein JOURNAL Acta Crystallogr. Sect. F Struct. Biol. Cryst. Commun. 66 (PT 8), 935-937 (2010) PUBMED 20693673 REMARK GeneRIF: FAIM (1-90) was crystallized and diffracted to a resolution of 2.5 A; the crystal belonged to space group P3(1), with unit-cell parameters a=b=58.02, c=71.11 A, alpha=beta=90, gamma=120 degrees. REFERENCE 3 (bases 1 to 1538) AUTHORS Talmud,P.J., Drenos,F., Shah,S., Shah,T., Palmen,J., Verzilli,C., Gaunt,T.R., Pallas,J., Lovering,R., Li,K., Casas,J.P., Sofat,R., Kumari,M., Rodriguez,S., Johnson,T., Newhouse,S.J., Dominiczak,A., Samani,N.J., Caulfield,M., Sever,P., Stanton,A., Shields,D.C., Padmanabhan,S., Melander,O., Hastie,C., Delles,C., Ebrahim,S., Marmot,M.G., Smith,G.D., Lawlor,D.A., Munroe,P.B., Day,I.N., Kivimaki,M., Whittaker,J., Humphries,S.E. and Hingorani,A.D. CONSRTM ASCOT investigators; NORDIL investigators; BRIGHT Consortium TITLE Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip JOURNAL Am. J. Hum. Genet. 85 (5), 628-642 (2009) PUBMED 19913121 REMARK GeneRIF: Observational study of gene-disease association. (HuGE Navigator) REFERENCE 4 (bases 1 to 1538) AUTHORS Kaku,H. and Rothstein,T.L. TITLE Fas apoptosis inhibitory molecule enhances CD40 signaling in B cells and augments the plasma cell compartment JOURNAL J. Immunol. 183 (3), 1667-1674 (2009) PUBMED 19592656 REMARK GeneRIF: FAIM acts to specifically enhance CD40 signaling for NF-kappaB activation, IRF-4 expression, and BCL-6 down-regulation in vitro, but has no effect on its own Erratum:[J Immunol. 2010 Jul 1;185(1):771] REFERENCE 5 (bases 1 to 1538) AUTHORS Segura,M.F., Sole,C., Pascual,M., Moubarak,R.S., Perez-Garcia,M.J., Gozzelino,R., Iglesias,V., Badiola,N., Bayascas,J.R., Llecha,N., Rodriguez-Alvarez,J., Soriano,E., Yuste,V.J. and Comella,J.X. TITLE The long form of Fas apoptotic inhibitory molecule is expressed specifically in neurons and protects them against death receptor-triggered apoptosis JOURNAL J. Neurosci. 27 (42), 11228-11241 (2007) PUBMED 17942717 REMARK GeneRIF: Expression of the long form of Fas apoptotic inhibitory molecule (FAIML) results in the protection of neurons from the cytotoxic actions of death ligands. REFERENCE 6 (bases 1 to 1538) AUTHORS Choi,C.Y., Reimers,K., Allmeling,C., Kall,S., Choi,Y.H. and Vogt,P.M. TITLE Inhibition of apoptosis by expression of antiapoptotic proteins in recombinant human keratinocytes JOURNAL Cell Transplant 16 (6), 663-674 (2007) PUBMED 17912957 REMARK GeneRIF: Human keratinocytes were transfected with either Flip, Faim, or Lifeguard (LFG). Our results suggest that heterotopic expression of antiapoptotic proteins can induce the resistance of keratinocytes to a major mechanism of rejection. REFERENCE 7 (bases 1 to 1538) AUTHORS Oh,J.H., Yang,J.O., Hahn,Y., Kim,M.R., Byun,S.S., Jeon,Y.J., Kim,J.M., Song,K.S., Noh,S.M., Kim,S., Yoo,H.S., Kim,Y.S. and Kim,N.S. TITLE Transcriptome analysis of human gastric cancer JOURNAL Mamm. Genome 16 (12), 942-954 (2005) PUBMED 16341674 REFERENCE 8 (bases 1 to 1538) AUTHORS Wistow,G., Bernstein,S.L., Wyatt,M.K., Ray,S., Behal,A., Touchman,J.W., Bouffard,G., Smith,D. and Peterson,K. TITLE Expressed sequence tag analysis of human retina for the NEIBank Project: retbindin, an abundant, novel retinal cDNA and alternative splicing of other retina-preferred gene transcripts JOURNAL Mol. Vis. 8, 196-204 (2002) PUBMED 12107411 REMARK Publication Status: Online-Only REFERENCE 9 (bases 1 to 1538) AUTHORS Schneider,T.J., Fischer,G.M., Donohoe,T.J., Colarusso,T.P. and Rothstein,T.L. TITLE A novel gene coding for a Fas apoptosis inhibitory molecule (FAIM) isolated from inducibly Fas-resistant B lymphocytes JOURNAL J. Exp. Med. 189 (6), 949-956 (1999) PUBMED 10075978 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AK125477.1, BM469375.1 and BC012478.1. This sequence is a reference standard in the RefSeqGene project. Summary: The protein encoded by this gene protects against death receptor-triggered apoptosis and regulates B-cell signaling and differentiation. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2011]. Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a). COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-367 AK125477.1 95-461 368-775 BM469375.1 263-670 776-1538 BC012478.1 191-953 FEATURES Location/Qualifiers source 1..1538 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="3" /map="3q22.3" gene 1..1538 /gene="FAIM" /gene_synonym="FAIM1" /note="Fas apoptotic inhibitory molecule" /db_xref="GeneID:55179" /db_xref="HGNC:18703" /db_xref="HPRD:16874" exon 1..238 /gene="FAIM" /gene_synonym="FAIM1" /inference="alignment:Splign:1.39.8" variation 42 /gene="FAIM" /gene_synonym="FAIM1" /replace="g" /replace="t" /db_xref="dbSNP:190414611" variation 166 /gene="FAIM" /gene_synonym="FAIM1" /replace="a" /replace="c" /db_xref="dbSNP:370004730" exon 239..672 /gene="FAIM" /gene_synonym="FAIM1" /inference="alignment:Splign:1.39.8" variation 368 /gene="FAIM" /gene_synonym="FAIM1" /replace="a" /replace="g" /db_xref="dbSNP:13077766" variation 465 /gene="FAIM" /gene_synonym="FAIM1" /replace="a" /replace="g" /db_xref="dbSNP:368256520" variation 492 /gene="FAIM" /gene_synonym="FAIM1" /replace="a" /replace="g" /db_xref="dbSNP:186303917" misc_feature 500..502 /gene="FAIM" /gene_synonym="FAIM1" /note="upstream in-frame stop codon" variation 511 /gene="FAIM" /gene_synonym="FAIM1" /replace="a" /replace="g" /db_xref="dbSNP:150603273" variation 588 /gene="FAIM" /gene_synonym="FAIM1" /replace="a" /replace="g" /db_xref="dbSNP:368013436" CDS 593..1234 /gene="FAIM" /gene_synonym="FAIM1" /note="isoform a is encoded by transcript variant 1; fas apoptotic inhibitory molecule 1" /codon_start=1 /product="fas apoptotic inhibitory molecule 1 isoform a" /protein_id="NP_001028202.1" /db_xref="GI:74271911" /db_xref="CCDS:CCDS33864.1" /db_xref="GeneID:55179" /db_xref="HGNC:18703" /db_xref="HPRD:16874" /translation="
MLLPFIRTLPLLCYNHLLVSPDSATLSPPYSLEKMTDLVAVWDVALSDGVHKIEFEHGTTSGKRVVYVDGKEEIRKEWMFKLVGKETFYVGAAKTKATINIDAISGFAYEYTLEINGKSLKKYMEDRSKTTNTWVLHMDGENFRIVLEKDAMDVWCNGKKLETAGEFVDDGTETHFSIGNHDCYIKAVSSGKRKEGIIHTLIVDNREIPEIAS
" misc_feature 701..1222 /gene="FAIM" /gene_synonym="FAIM1" /note="Fas apoptotic inhibitory molecule (FAIM1); Region: FAIM1; pfam06905" /db_xref="CDD:148495" variation 596 /gene="FAIM" /gene_synonym="FAIM1" /replace="c" /replace="t" /db_xref="dbSNP:367804345" variation 645 /gene="FAIM" /gene_synonym="FAIM1" /replace="c" /replace="t" /db_xref="dbSNP:139741354" variation 655 /gene="FAIM" /gene_synonym="FAIM1" /replace="a" /replace="g" /db_xref="dbSNP:811322" exon 673..805 /gene="FAIM" /gene_synonym="FAIM1" /inference="alignment:Splign:1.39.8" variation 677 /gene="FAIM" /gene_synonym="FAIM1" /replace="c" /replace="t" /db_xref="dbSNP:200135625" variation 687 /gene="FAIM" /gene_synonym="FAIM1" /replace="c" /replace="t" /db_xref="dbSNP:187659517" variation 707 /gene="FAIM" /gene_synonym="FAIM1" /replace="a" /replace="g" /db_xref="dbSNP:201485286" variation 751 /gene="FAIM" /gene_synonym="FAIM1" /replace="c" /replace="g" /db_xref="dbSNP:148507350" variation 799 /gene="FAIM" /gene_synonym="FAIM1" /replace="c" /replace="t" /db_xref="dbSNP:369058786" variation 805 /gene="FAIM" /gene_synonym="FAIM1" /replace="a" /replace="g" /db_xref="dbSNP:368988098" exon 806..1034 /gene="FAIM" /gene_synonym="FAIM1" /inference="alignment:Splign:1.39.8" variation 843 /gene="FAIM" /gene_synonym="FAIM1" /replace="g" /replace="t" /db_xref="dbSNP:373117151" variation 883 /gene="FAIM" /gene_synonym="FAIM1" /replace="a" /replace="g" /db_xref="dbSNP:372907141" variation 941 /gene="FAIM" /gene_synonym="FAIM1" /replace="a" /replace="g" /db_xref="dbSNP:183886148" variation 989 /gene="FAIM" /gene_synonym="FAIM1" /replace="a" /replace="g" /db_xref="dbSNP:376276693" variation 992 /gene="FAIM" /gene_synonym="FAIM1" /replace="c" /replace="t" /db_xref="dbSNP:369178291" variation 1004 /gene="FAIM" /gene_synonym="FAIM1" /replace="a" /replace="g" /db_xref="dbSNP:372730133" variation 1029 /gene="FAIM" /gene_synonym="FAIM1" /replace="g" /replace="t" /db_xref="dbSNP:145389845" exon 1035..1084 /gene="FAIM" /gene_synonym="FAIM1" /inference="alignment:Splign:1.39.8" variation 1043 /gene="FAIM" /gene_synonym="FAIM1" /replace="c" /replace="t" /db_xref="dbSNP:641320" variation 1050 /gene="FAIM" /gene_synonym="FAIM1" /replace="a" /replace="g" /db_xref="dbSNP:373425343" variation 1051 /gene="FAIM" /gene_synonym="FAIM1" /replace="c" /replace="t" /db_xref="dbSNP:377724151" variation 1054 /gene="FAIM" /gene_synonym="FAIM1" /replace="a" /replace="g" /db_xref="dbSNP:61753268" variation 1073 /gene="FAIM" /gene_synonym="FAIM1" /replace="c" /replace="t" /db_xref="dbSNP:145920343" variation 1074 /gene="FAIM" /gene_synonym="FAIM1" /replace="a" /replace="g" /db_xref="dbSNP:13043" variation 1083 /gene="FAIM" /gene_synonym="FAIM1" /replace="c" /replace="t" /db_xref="dbSNP:141740200" variation 1084 /gene="FAIM" /gene_synonym="FAIM1" /replace="a" /replace="g" /db_xref="dbSNP:150321985" exon 1085..1531 /gene="FAIM" /gene_synonym="FAIM1" /inference="alignment:Splign:1.39.8" variation 1098 /gene="FAIM" /gene_synonym="FAIM1" /replace="a" /replace="g" /db_xref="dbSNP:201538540" variation 1109 /gene="FAIM" /gene_synonym="FAIM1" /replace="a" /replace="g" /db_xref="dbSNP:370123817" variation 1126 /gene="FAIM" /gene_synonym="FAIM1" /replace="c" /replace="t" /db_xref="dbSNP:138002065" variation 1146..1147 /gene="FAIM" /gene_synonym="FAIM1" /replace="" /replace="c" /db_xref="dbSNP:35777696" variation 1154 /gene="FAIM" /gene_synonym="FAIM1" /replace="g" /replace="t" /db_xref="dbSNP:374829953" variation 1170 /gene="FAIM" /gene_synonym="FAIM1" /replace="a" /replace="g" /db_xref="dbSNP:200351586" variation 1180 /gene="FAIM" /gene_synonym="FAIM1" /replace="g" /replace="t" /db_xref="dbSNP:186964615" variation 1187 /gene="FAIM" /gene_synonym="FAIM1" /replace="c" /replace="t" /db_xref="dbSNP:149453397" variation 1193 /gene="FAIM" /gene_synonym="FAIM1" /replace="c" /replace="t" /db_xref="dbSNP:190624264" variation 1207 /gene="FAIM" /gene_synonym="FAIM1" /replace="c" /replace="t" /db_xref="dbSNP:201710308" variation 1357 /gene="FAIM" /gene_synonym="FAIM1" /replace="g" /replace="t" /db_xref="dbSNP:139843076" variation 1448 /gene="FAIM" /gene_synonym="FAIM1" /replace="a" /replace="g" /db_xref="dbSNP:370851305" variation 1457 /gene="FAIM" /gene_synonym="FAIM1" /replace="a" /replace="g" /db_xref="dbSNP:112327774" variation 1511..1512 /gene="FAIM" /gene_synonym="FAIM1" /replace="" /replace="aata" /db_xref="dbSNP:149445173" ORIGIN
tgggtccgtggcggcgggaggggtggcctcctgcgctggtcgccccaggggacctgagaggcgcgacaaacagtcggcgcgtttggtactcgcgcctgcagagctttcaacctccgcgccggctgcgcctgtttctcggccaggggagcaaggccacgcggcctacgcagccgagtcggaaccaaccggttgtttggtgaaacctaccccagagcctcccgcggcccacagagcacagacagaatctccctctgtcacccaggctggagtgcagtggcatgatctcggctcactgcaacctccacctcccgggttcaagcgattcttgtgcctcagcctccggagtagctgggatttacagacgtgcgctaccatgcccggcaaatttttctatttttgcaaagacaggatttcaccgttttgtccaggctggtcttgaactattgacctcaagtgatccgaccgccttgacctcccaaagtgctgggattacggggtgtgagccatcgcgcctggccactttctccaaagttttaaaccaaagccttcttcggcagagctacgacccttcctctatggcccattctatcctatgctgcttccctttataaggacactcccactgttgtgctataatcatctcttggtatctccggactctgccactctgagccctccttacagcctagaaaaaatgacagatctcgtagctgtttgggatgttgctttaagtgacggagtccacaagatcgaatttgaacatgggactacatcaggcaaacgagtagtatatgtagatggaaaggaagagataagaaaagagtggatgttcaaattagtgggcaaagaaacattctatgttggagctgcaaagacaaaagcgaccataaatatagacgctatcagtggttttgcttatgaatatactctggaaattaatgggaaaagtctcaagaagtatatggaggacagatcaaaaaccaccaatacttgggtattacacatggatggtgagaactttagaattgttttggaaaaagatgctatggacgtatggtgcaatggtaaaaaattggagacagcgggtgagtttgtagatgatgggactgaaactcacttcagtatcgggaaccatgactgttacataaaggctgtcagtagtgggaagcggaaagaagggattattcatactctcattgtggataatagagaaatcccagagattgcaagttaatgaattttcatcttaagaagtaaagatcaggactttttaattactgtggtaattaaatgtgttcagtatgtacttatcagtacatttagtctgcaatgttttaattttttaaaaagttacatgaaactaacattccaagggtcaggaaaaaaaccaattatgtatagtcataaaaattacaatttatgatgcaaataatgtaaaatgttttaaagacaaatggcaaataagatatggaccaaagtcactaatgttttacaacagtaacctttactataataaatacttttaaaaaaaaaaaaaa
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ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:55179 -> Biological process: GO:0006915 [apoptotic process] evidence: IEA GeneID:55179 -> Biological process: GO:0043066 [negative regulation of apoptotic process] evidence: IEA GeneID:55179 -> Cellular component: GO:0005737 [cytoplasm] evidence: IEA
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