2024-03-29 08:29:50, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_018147 936 bp mRNA linear PRI 17-APR-2013 DEFINITION Homo sapiens Fas apoptotic inhibitory molecule (FAIM), transcript variant 4, mRNA. ACCESSION NM_018147 VERSION NM_018147.3 GI:341604771 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 936) 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 936) 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 936) 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 936) 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 936) 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 936) 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 936) 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 936) 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 936) 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 AK001444.1, AC020890.22 and BC012478.1. On Jul 26, 2011 this sequence version replaced gi:50726985. 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 (4) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (c) is shorter at the N-terminus compared to isoform a. Variants 3 and 4 both encode the same isoform (c). ##Evidence-Data-START## Transcript exon combination :: AK001444.1, BM023482.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025081, ERS025084 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-32 AK001444.1 1-32 33-33 AC020890.22 77676-77676 c 34-922 AK001444.1 34-922 923-936 BC012478.1 940-953 FEATURES Location/Qualifiers source 1..936 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="3" /map="3q22.3" gene 1..936 /gene="FAIM" /gene_synonym="FAIM1" /note="Fas apoptotic inhibitory molecule" /db_xref="GeneID:55179" /db_xref="HGNC:18703" /db_xref="HPRD:16874" exon 1..70 /gene="FAIM" /gene_synonym="FAIM1" /inference="alignment:Splign:1.39.8" variation 33 /gene="FAIM" /gene_synonym="FAIM1" /replace="c" /replace="t" /db_xref="dbSNP:61699523" misc_feature 60..62 /gene="FAIM" /gene_synonym="FAIM1" /note="upstream in-frame stop codon" exon 71..203 /gene="FAIM" /gene_synonym="FAIM1" /inference="alignment:Splign:1.39.8" variation 75 /gene="FAIM" /gene_synonym="FAIM1" /replace="c" /replace="t" /db_xref="dbSNP:200135625" variation 85 /gene="FAIM" /gene_synonym="FAIM1" /replace="c" /replace="t" /db_xref="dbSNP:187659517" CDS 93..632 /gene="FAIM" /gene_synonym="FAIM1" /note="isoform c is encoded by transcript variant 4; fas apoptotic inhibitory molecule 1" /codon_start=1 /product="fas apoptotic inhibitory molecule 1 isoform c" /protein_id="NP_060617.1" /db_xref="GI:8922536" /db_xref="CCDS:CCDS3103.1" /db_xref="GeneID:55179" /db_xref="HGNC:18703" /db_xref="HPRD:16874" /translation="
MTDLVAVWDVALSDGVHKIEFEHGTTSGKRVVYVDGKEEIRKEWMFKLVGKETFYVGAAKTKATINIDAISGFAYEYTLEINGKSLKKYMEDRSKTTNTWVLHMDGENFRIVLEKDAMDVWCNGKKLETAGEFVDDGTETHFSIGNHDCYIKAVSSGKRKEGIIHTLIVDNREIPEIAS
" misc_feature 99..620 /gene="FAIM" /gene_synonym="FAIM1" /note="Fas apoptotic inhibitory molecule (FAIM1); Region: FAIM1; pfam06905" /db_xref="CDD:148495" variation 105 /gene="FAIM" /gene_synonym="FAIM1" /replace="a" /replace="g" /db_xref="dbSNP:201485286" variation 149 /gene="FAIM" /gene_synonym="FAIM1" /replace="c" /replace="g" /db_xref="dbSNP:148507350" variation 197 /gene="FAIM" /gene_synonym="FAIM1" /replace="c" /replace="t" /db_xref="dbSNP:369058786" variation 203 /gene="FAIM" /gene_synonym="FAIM1" /replace="a" /replace="g" /db_xref="dbSNP:368988098" exon 204..432 /gene="FAIM" /gene_synonym="FAIM1" /inference="alignment:Splign:1.39.8" variation 241 /gene="FAIM" /gene_synonym="FAIM1" /replace="g" /replace="t" /db_xref="dbSNP:373117151" variation 281 /gene="FAIM" /gene_synonym="FAIM1" /replace="a" /replace="g" /db_xref="dbSNP:372907141" variation 339 /gene="FAIM" /gene_synonym="FAIM1" /replace="a" /replace="g" /db_xref="dbSNP:183886148" variation 387 /gene="FAIM" /gene_synonym="FAIM1" /replace="a" /replace="g" /db_xref="dbSNP:376276693" variation 390 /gene="FAIM" /gene_synonym="FAIM1" /replace="c" /replace="t" /db_xref="dbSNP:369178291" variation 402 /gene="FAIM" /gene_synonym="FAIM1" /replace="a" /replace="g" /db_xref="dbSNP:372730133" variation 427 /gene="FAIM" /gene_synonym="FAIM1" /replace="g" /replace="t" /db_xref="dbSNP:145389845" exon 433..482 /gene="FAIM" /gene_synonym="FAIM1" /inference="alignment:Splign:1.39.8" variation 441 /gene="FAIM" /gene_synonym="FAIM1" /replace="c" /replace="t" /db_xref="dbSNP:641320" variation 448 /gene="FAIM" /gene_synonym="FAIM1" /replace="a" /replace="g" /db_xref="dbSNP:373425343" variation 449 /gene="FAIM" /gene_synonym="FAIM1" /replace="c" /replace="t" /db_xref="dbSNP:377724151" variation 452 /gene="FAIM" /gene_synonym="FAIM1" /replace="a" /replace="g" /db_xref="dbSNP:61753268" variation 471 /gene="FAIM" /gene_synonym="FAIM1" /replace="c" /replace="t" /db_xref="dbSNP:145920343" variation 472 /gene="FAIM" /gene_synonym="FAIM1" /replace="a" /replace="g" /db_xref="dbSNP:13043" variation 481 /gene="FAIM" /gene_synonym="FAIM1" /replace="c" /replace="t" /db_xref="dbSNP:141740200" variation 482 /gene="FAIM" /gene_synonym="FAIM1" /replace="a" /replace="g" /db_xref="dbSNP:150321985" exon 483..929 /gene="FAIM" /gene_synonym="FAIM1" /inference="alignment:Splign:1.39.8" variation 496 /gene="FAIM" /gene_synonym="FAIM1" /replace="a" /replace="g" /db_xref="dbSNP:201538540" variation 507 /gene="FAIM" /gene_synonym="FAIM1" /replace="a" /replace="g" /db_xref="dbSNP:370123817" variation 524 /gene="FAIM" /gene_synonym="FAIM1" /replace="c" /replace="t" /db_xref="dbSNP:138002065" variation 544..545 /gene="FAIM" /gene_synonym="FAIM1" /replace="" /replace="c" /db_xref="dbSNP:35777696" variation 552 /gene="FAIM" /gene_synonym="FAIM1" /replace="g" /replace="t" /db_xref="dbSNP:374829953" variation 568 /gene="FAIM" /gene_synonym="FAIM1" /replace="a" /replace="g" /db_xref="dbSNP:200351586" variation 578 /gene="FAIM" /gene_synonym="FAIM1" /replace="g" /replace="t" /db_xref="dbSNP:186964615" variation 585 /gene="FAIM" /gene_synonym="FAIM1" /replace="c" /replace="t" /db_xref="dbSNP:149453397" variation 591 /gene="FAIM" /gene_synonym="FAIM1" /replace="c" /replace="t" /db_xref="dbSNP:190624264" variation 605 /gene="FAIM" /gene_synonym="FAIM1" /replace="c" /replace="t" /db_xref="dbSNP:201710308" variation 755 /gene="FAIM" /gene_synonym="FAIM1" /replace="g" /replace="t" /db_xref="dbSNP:139843076" variation 846 /gene="FAIM" /gene_synonym="FAIM1" /replace="a" /replace="g" /db_xref="dbSNP:370851305" variation 855 /gene="FAIM" /gene_synonym="FAIM1" /replace="a" /replace="g" /db_xref="dbSNP:112327774" variation 909..910 /gene="FAIM" /gene_synonym="FAIM1" /replace="" /replace="aata" /db_xref="dbSNP:149445173" polyA_signal 910..915 /gene="FAIM" /gene_synonym="FAIM1" polyA_site 929 /gene="FAIM" /gene_synonym="FAIM1" ORIGIN
ggccatctctgggcggcggcggcgggcggtgtttgcgcggtcggtgagacccgcgcgggtgagacgctggccctccttacagcctagaaaaaatgacagatctcgtagctgtttgggatgttgctttaagtgacggagtccacaagatcgaatttgaacatgggactacatcaggcaaacgagtagtatatgtagatggaaaggaagagataagaaaagagtggatgttcaaattagtgggcaaagaaacattctatgttggagctgcaaagacaaaagcgaccataaatatagacgctatcagtggttttgcttatgaatatactctggaaattaatgggaaaagtctcaagaagtatatggaggacagatcaaaaaccaccaatacttgggtattacacatggatggtgagaactttagaattgttttggaaaaagatgctatggacgtatggtgcaatggtaaaaaattggagacagcgggtgagtttgtagatgatgggactgaaactcacttcagtatcgggaaccatgactgttacataaaggctgtcagtagtgggaagcggaaagaagggattattcatactctcattgtggataatagagaaatcccagagattgcaagttaatgaattttcatcttaagaagtaaagatcaggactttttaattactgtggtaattaaatgtgttcagtatgtacttatcagtacatttagtctgcaatgttttaattttttaaaaagttacatgaaactaacattccaagggtcaggaaaaaaaccaattatgtatagtcataaaaattacaatttatgatgcaaataatgtaaaatgttttaaagacaaatggcaaataagatatggaccaaagtcactaatgttttacaacagtaacctttactataataaatacttttaaaaaaaaaaaaaa
//
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
by
@meso_cacase at
DBCLS
This page is licensed under a Creative Commons Attribution 2.1 Japan License.