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2024-04-17 02:33:31, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001033031 1164 bp mRNA linear PRI 18-APR-2013
DEFINITION Homo sapiens Fas apoptotic inhibitory molecule (FAIM), transcript
variant 2, mRNA.
ACCESSION NM_001033031
VERSION NM_001033031.1 GI:74271916
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 1164)
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 1164)
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 1164)
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 1164)
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 1164)
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 1164)
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 1164)
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 1164)
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 1164)
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, BQ638715.1 and
BC012478.1.
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 (2) differs in the 5' UTR and
coding sequence compared to variant 1. The resulting isoform (b)
has a shorter and distinct N-terminus compared to isoform a.
##Evidence-Data-START##
Transcript exon combination :: BQ638715.1 [ECO:0000332]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-238 AK125477.1 95-332
239-298 BQ638715.1 73-132
299-1164 BC012478.1 88-953
FEATURES Location/Qualifiers
source 1..1164
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="3"
/map="3q22.3"
gene 1..1164
/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"
misc_feature 198..200
/gene="FAIM"
/gene_synonym="FAIM1"
/note="upstream in-frame stop codon"
exon 239..298
/gene="FAIM"
/gene_synonym="FAIM1"
/inference="alignment:Splign:1.39.8"
CDS 255..860
/gene="FAIM"
/gene_synonym="FAIM1"
/note="isoform b is encoded by transcript variant 2; fas
apoptotic inhibitory molecule 1"
/codon_start=1
/product="fas apoptotic inhibitory molecule 1 isoform b"
/protein_id="NP_001028203.1"
/db_xref="GI:74271917"
/db_xref="CCDS:CCDS33865.1"
/db_xref="GeneID:55179"
/db_xref="HGNC:18703"
/db_xref="HPRD:16874"
/translation="
MASGDDSPIFEDDESPPYSLEKMTDLVAVWDVALSDGVHKIEFEHGTTSGKRVVYVDGKEEIRKEWMFKLVGKETFYVGAAKTKATINIDAISGFAYEYTLEINGKSLKKYMEDRSKTTNTWVLHMDGENFRIVLEKDAMDVWCNGKKLETAGEFVDDGTETHFSIGNHDCYIKAVSSGKRKEGIIHTLIVDNREIPEIAS
"
misc_feature 327..848
/gene="FAIM"
/gene_synonym="FAIM1"
/note="Fas apoptotic inhibitory molecule (FAIM1); Region:
FAIM1; pfam06905"
/db_xref="CDD:148495"
variation 267
/gene="FAIM"
/gene_synonym="FAIM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:145680493"
variation 274
/gene="FAIM"
/gene_synonym="FAIM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:199822647"
exon 299..431
/gene="FAIM"
/gene_synonym="FAIM1"
/inference="alignment:Splign:1.39.8"
variation 303
/gene="FAIM"
/gene_synonym="FAIM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:200135625"
variation 313
/gene="FAIM"
/gene_synonym="FAIM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:187659517"
variation 333
/gene="FAIM"
/gene_synonym="FAIM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:201485286"
variation 377
/gene="FAIM"
/gene_synonym="FAIM1"
/replace="c"
/replace="g"
/db_xref="dbSNP:148507350"
variation 425
/gene="FAIM"
/gene_synonym="FAIM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:369058786"
variation 431
/gene="FAIM"
/gene_synonym="FAIM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:368988098"
exon 432..660
/gene="FAIM"
/gene_synonym="FAIM1"
/inference="alignment:Splign:1.39.8"
variation 469
/gene="FAIM"
/gene_synonym="FAIM1"
/replace="g"
/replace="t"
/db_xref="dbSNP:373117151"
variation 509
/gene="FAIM"
/gene_synonym="FAIM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:372907141"
variation 567
/gene="FAIM"
/gene_synonym="FAIM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:183886148"
variation 615
/gene="FAIM"
/gene_synonym="FAIM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:376276693"
variation 618
/gene="FAIM"
/gene_synonym="FAIM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:369178291"
variation 630
/gene="FAIM"
/gene_synonym="FAIM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:372730133"
variation 655
/gene="FAIM"
/gene_synonym="FAIM1"
/replace="g"
/replace="t"
/db_xref="dbSNP:145389845"
exon 661..710
/gene="FAIM"
/gene_synonym="FAIM1"
/inference="alignment:Splign:1.39.8"
variation 669
/gene="FAIM"
/gene_synonym="FAIM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:641320"
variation 676
/gene="FAIM"
/gene_synonym="FAIM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:373425343"
variation 677
/gene="FAIM"
/gene_synonym="FAIM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:377724151"
variation 680
/gene="FAIM"
/gene_synonym="FAIM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:61753268"
variation 699
/gene="FAIM"
/gene_synonym="FAIM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:145920343"
variation 700
/gene="FAIM"
/gene_synonym="FAIM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:13043"
variation 709
/gene="FAIM"
/gene_synonym="FAIM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:141740200"
variation 710
/gene="FAIM"
/gene_synonym="FAIM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:150321985"
exon 711..1157
/gene="FAIM"
/gene_synonym="FAIM1"
/inference="alignment:Splign:1.39.8"
variation 724
/gene="FAIM"
/gene_synonym="FAIM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:201538540"
variation 735
/gene="FAIM"
/gene_synonym="FAIM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:370123817"
variation 752
/gene="FAIM"
/gene_synonym="FAIM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:138002065"
variation 772..773
/gene="FAIM"
/gene_synonym="FAIM1"
/replace=""
/replace="c"
/db_xref="dbSNP:35777696"
variation 780
/gene="FAIM"
/gene_synonym="FAIM1"
/replace="g"
/replace="t"
/db_xref="dbSNP:374829953"
variation 796
/gene="FAIM"
/gene_synonym="FAIM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:200351586"
variation 806
/gene="FAIM"
/gene_synonym="FAIM1"
/replace="g"
/replace="t"
/db_xref="dbSNP:186964615"
variation 813
/gene="FAIM"
/gene_synonym="FAIM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:149453397"
variation 819
/gene="FAIM"
/gene_synonym="FAIM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:190624264"
variation 833
/gene="FAIM"
/gene_synonym="FAIM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:201710308"
variation 983
/gene="FAIM"
/gene_synonym="FAIM1"
/replace="g"
/replace="t"
/db_xref="dbSNP:139843076"
variation 1074
/gene="FAIM"
/gene_synonym="FAIM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:370851305"
variation 1083
/gene="FAIM"
/gene_synonym="FAIM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:112327774"
variation 1137..1138
/gene="FAIM"
/gene_synonym="FAIM1"
/replace=""
/replace="aata"
/db_xref="dbSNP:149445173"
ORIGIN
tgggtccgtggcggcgggaggggtggcctcctgcgctggtcgccccaggggacctgagaggcgcgacaaacagtcggcgcgtttggtactcgcgcctgcagagctttcaacctccgcgccggctgcgcctgtttctcggccaggggagcaaggccacgcggcctacgcagccgagtcggaaccaaccggttgtttggtgaaacctaccccagagcctcccgcggcccacagagcacagactgtttttgccaaccatggcatctggagatgacagtcctatctttgaagatgatgaaagccctccttacagcctagaaaaaatgacagatctcgtagctgtttgggatgttgctttaagtgacggagtccacaagatcgaatttgaacatgggactacatcaggcaaacgagtagtatatgtagatggaaaggaagagataagaaaagagtggatgttcaaattagtgggcaaagaaacattctatgttggagctgcaaagacaaaagcgaccataaatatagacgctatcagtggttttgcttatgaatatactctggaaattaatgggaaaagtctcaagaagtatatggaggacagatcaaaaaccaccaatacttgggtattacacatggatggtgagaactttagaattgttttggaaaaagatgctatggacgtatggtgcaatggtaaaaaattggagacagcgggtgagtttgtagatgatgggactgaaactcacttcagtatcgggaaccatgactgttacataaaggctgtcagtagtgggaagcggaaagaagggattattcatactctcattgtggataatagagaaatcccagagattgcaagttaatgaattttcatcttaagaagtaaagatcaggactttttaattactgtggtaattaaatgtgttcagtatgtacttatcagtacatttagtctgcaatgttttaattttttaaaaagttacatgaaactaacattccaagggtcaggaaaaaaaccaattatgtatagtcataaaaattacaatttatgatgcaaataatgtaaaatgttttaaagacaaatggcaaataagatatggaccaaagtcactaatgttttacaacagtaacctttactataataaatacttttaaaaaaaaaaaaaa
//
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
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