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

Summary

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

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_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
FAIM regulates autophagy through glutaminolysis in lung adenocarcinoma.
Title: FAIM regulates autophagy through glutaminolysis in lung adenocarcinoma.
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.
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.
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.
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).
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.
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.
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.
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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11S3114 (e-PCR)
- UniSTS:152207

BE112969 (e-PCR)
- UniSTS:246250

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

NG_029625.1 RefSeqGene

Range

5072..29677

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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)
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)
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)
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

NC_000003.12 Reference GRCh38.p14 Primary Assembly

Range

138608771..138633376

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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