GGRNA Home | Help | Advanced search

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:

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.