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

Gene ID: 55179, updated on 5-Mar-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
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Genomic context

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Location:
3q22.3
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (138608771..138633376)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (141349369..141374071)
105.20220307 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
  • 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. 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
  2. FAIM regulates autophagy through glutaminolysis in lung adenocarcinoma. Han T, et al. Autophagy, 2022 Jun. PMID 34720024, Free PMC Article
  3. FAIM-S functions as a negative regulator of NF-κB pathway and blocks cell cycle progression in NSCLC cells. Wang P, et al. Cell Cycle, 2020 Dec. PMID 33249986, Free PMC Article
  4. 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
  5. 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

See all (34) 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-κB 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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NEW Try the new Transcript table

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_2023_10

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

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