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    FAIM Fas apoptotic inhibitory molecule [ Homo sapiens (human) ]

    Gene ID: 55179, updated on 2-Nov-2024

    Summary

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    Official Symbol
    FAIMprovided by HGNC
    Official Full Name
    Fas apoptotic inhibitory moleculeprovided by HGNC
    Primary source
    HGNC:HGNC:18703
    See related
    Ensembl:ENSG00000158234 MIM:617535; AllianceGenome:HGNC:18703
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    FAIM1
    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]
    Expression
    Ubiquitous expression in fat (RPKM 4.9), thyroid (RPKM 4.0) and 25 other tissues See more
    Orthologs
    all
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    Genomic context

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    See FAIM in Genome Data Viewer
    Location:
    3q22.3
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (138608771..138633376)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (141349369..141374071)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (138327613..138352218)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:138158533-138159312 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:138159313-138160093 Neighboring gene extended synaptotagmin 3 Neighboring gene centrosomal protein 70 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20603 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14765 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20604 Neighboring gene peptidylprolyl isomerase A pseudogene 72 Neighboring gene phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta Neighboring gene NANOG hESC enhancer GRCh37_chr3:138448780-138449303 Neighboring gene Sharpr-MPRA regulatory region 1798 Neighboring gene glyceraldehyde 3 phosphate dehydrogenase pseudogene 39

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Crystallization and preliminary X-ray crystallographic studies of human FAIM protein. Li G, et al. Acta Crystallogr Sect F Struct Biol Cryst Commun, 2010 Aug 1. PMID 20693673, Free PMC Article
    2. FAIM regulates autophagy through glutaminolysis in lung adenocarcinoma. Han T, et al. Autophagy, 2022 Jun. PMID 34720024, Free PMC Article
    3. Small Heat Shock Proteins Collaborate with FAIM to Prevent Accumulation of Misfolded Protein Aggregates. Kaku H, et al. Int J Mol Sci, 2022 Oct 6. PMID 36233145, Free PMC Article
    4. FAIM-S functions as a negative regulator of NF-ÎşB pathway and blocks cell cycle progression in NSCLC cells. Wang P, et al. Cell Cycle, 2020 Dec. PMID 33249986, Free PMC Article
    5. Identification and characterization of new isoforms of human fas apoptotic inhibitory molecule (FAIM). Coccia E, et al. PLoS One, 2017. PMID 28981531, Free PMC Article

    See all (35) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Small Heat Shock Proteins Collaborate with FAIM to Prevent Accumulation of Misfolded Protein Aggregates.
      Title: Small Heat Shock Proteins Collaborate with FAIM to Prevent Accumulation of Misfolded Protein Aggregates.
    2. FAIM regulates autophagy through glutaminolysis in lung adenocarcinoma.
      Title: FAIM regulates autophagy through glutaminolysis in lung adenocarcinoma.
    3. FAIM-S functions as a negative regulator of NF-kappaB pathway and blocks cell cycle progression in NSCLC cells.
      Title: FAIM-S functions as a negative regulator of NF-ÎşB pathway and blocks cell cycle progression in NSCLC cells.
    4. PACAP ameliorates hepatic metabolism and inflammation through up-regulating FAIM in obesity.
      Title: PACAP ameliorates hepatic metabolism and inflammation through up-regulating FAIM in obesity.
    5. the anti-apoptotic effect of SRT1720 was mitigated by FAIM knockdown with a small interfering RNA-targeted FAIM. These results indicated that pretreatment with SRT1720 improves survival of aged hMSCs, and enhances their therapeutic efficacy for rat myocardial infarction (MI).
      Title: SRT1720 promotes survival of aged human mesenchymal stem cells via FAIM: a pharmacological strategy to improve stem cell-based therapy for rat myocardial infarction.
    6. subcellular fractionation experiments revealed that, in contrast to FAIM-S and FAIM-L, FAIM-S_2a and FAIM-L_2a are able to localize to the nucleus, where they may have additional functions. In summary, here we report on two novel FAIM isoforms that may have relevant roles in the physiology and pathology of the nervous system
      Title: Identification and characterization of new isoforms of human fas apoptotic inhibitory molecule (FAIM).
    7. Data indicate that FAIM is a novel regulator of insulin signalling and plays an essential role in energy homoeostasis.
      Title: Loss of Fas apoptosis inhibitory molecule leads to spontaneous obesity and hepatosteatosis.
    8. FAIM modulates IGF-1-induced Akt activation and IRF4 expression and has a role in multiple myeloma cell survival
      Title: Fas apoptosis inhibitory molecule is upregulated by IGF-1 signaling and modulates Akt activation and IRF4 expression in multiple myeloma.
    9. 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.
      Title: Crystallization and preliminary X-ray crystallographic studies of human FAIM protein.
    10. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      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.
    Submit: New GeneRIF Correction See all GeneRIFs (14)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of extrinsic apoptotic signaling pathway via death domain receptors IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    fas apoptotic inhibitory molecule 1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_029625.1 RefSeqGene

      Range
      5072..29677
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001033030.2 → NP_001028202.1  fas apoptotic inhibitory molecule 1 isoform a

      See identical proteins and their annotated locations for NP_001028202.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      AK125477, BC012478, BM469375
      Consensus CDS
      CCDS33864.1
      UniProtKB/Swiss-Prot
      Q9NVQ4
      Related
      ENSP00000342805.4, ENST00000338446.8
      Conserved Domains (1) summary
      pfam06905
      Location:37 → 208
      FAIM1; Fas apoptotic inhibitory molecule (FAIM1)

    2. NM_001033031.2 → NP_001028203.1  fas apoptotic inhibitory molecule 1 isoform b

      See identical proteins and their annotated locations for NP_001028203.1

      Status: REVIEWED

      Description
      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.
      Source sequence(s)
      AK125477, BC012478, BQ638715
      Consensus CDS
      CCDS33865.1
      UniProtKB/Swiss-Prot
      Q9NVQ4
      Related
      ENSP00000353775.3, ENST00000360570.8
      Conserved Domains (1) summary
      pfam06905
      Location:25 → 196
      FAIM1; Fas apoptotic inhibitory molecule (FAIM1)

    3. NM_001033032.2 → NP_001028204.1  fas apoptotic inhibitory molecule 1 isoform c

      See identical proteins and their annotated locations for NP_001028204.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) 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).
      Source sequence(s)
      AK125477, BC012478
      Consensus CDS
      CCDS3103.1
      UniProtKB/Swiss-Prot
      Q6IAN2, Q9NVQ4
      Related
      ENSP00000376755.2, ENST00000393035.6
      Conserved Domains (1) summary
      pfam06905
      Location:2 → 176
      FAIM1; Fas apoptotic inhibitory molecule (FAIM1)

    4. NM_018147.4 → NP_060617.1  fas apoptotic inhibitory molecule 1 isoform c

      See identical proteins and their annotated locations for NP_060617.1

      Status: REVIEWED

      Description
      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).
      Source sequence(s)
      AC020890, AK001444, BC012478
      Consensus CDS
      CCDS3103.1
      UniProtKB/Swiss-Prot
      Q6IAN2, Q9NVQ4
      Related
      ENSP00000376754.2, ENST00000393034.6
      Conserved Domains (1) summary
      pfam06905
      Location:2 → 176
      FAIM1; Fas apoptotic inhibitory molecule (FAIM1)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      138608771..138633376
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011512950.4 → XP_011511252.1  fas apoptotic inhibitory molecule 1 isoform X1

      Conserved Domains (1) summary
      pfam06905
      Location:57 → 228
      FAIM1; Fas apoptotic inhibitory molecule (FAIM1)

    2. XM_047448439.1 → XP_047304395.1  fas apoptotic inhibitory molecule 1 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      141349369..141374071
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054347070.1 → XP_054203045.1  fas apoptotic inhibitory molecule 1 isoform X1

    2. XM_054347071.1 → XP_054203046.1  fas apoptotic inhibitory molecule 1 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NVQ4.1 GenPept UniProtKB/Swiss-Prot:Q9NVQ4

    Gene LinkOut

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