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FAF1 Fas associated factor 1 [ Homo sapiens (human) ]

Gene ID: 11124, updated on 27-Nov-2024

Summary

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Official Symbol
FAF1provided by HGNC
Official Full Name
Fas associated factor 1provided by HGNC
Primary source
HGNC:HGNC:3578
See related
Ensembl:ENSG00000185104 MIM:604460; AllianceGenome:HGNC:3578
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
hFAF1; CGI-03; HFAF1s; UBXD12; UBXN3A
Summary
Interaction of Fas ligand (TNFSF6) with the FAS antigen (TNFRSF6) mediates programmed cell death, also called apoptosis, in a number of organ systems. The protein encoded by this gene binds to FAS antigen and can initiate apoptosis or enhance apoptosis initiated through FAS antigen. Initiation of apoptosis by the protein encoded by this gene requires a ubiquitin-like domain but not the FAS-binding domain. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in testis (RPKM 31.0), thyroid (RPKM 14.4) and 25 other tissues See more
Orthologs
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Genomic context

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See FAF1 in Genome Data Viewer
Location:
1p32.3
Exon count:
23
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (50437028..50960267, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (50316640..50840146, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (50902700..51425939, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:50883775-50884725 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:50884726-50885675 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:50886911-50887410 Neighboring gene uncharacterized LOC105378714 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 863 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:50892122-50893115 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:50893116-50894108 Neighboring gene NANOG hESC enhancer GRCh37_chr1:50918802-50919303 Neighboring gene DMRT like family A2 Neighboring gene MPRA-validated peak214 silencer Neighboring gene FAF1 antisense RNA 1 Neighboring gene VISTA enhancer hs194 Neighboring gene RNA, U6 small nuclear 1026, pseudogene Neighboring gene MED14-independent group 3 enhancer GRCh37_chr1:51069018-51070217 Neighboring gene NANOG hESC enhancer GRCh37_chr1:51124041-51124558 Neighboring gene VISTA enhancer hs200 Neighboring gene U6 spliceosomal RNA Neighboring gene PHB1 pseudogene 12 Neighboring gene MPRA-validated peak217 silencer Neighboring gene Sharpr-MPRA regulatory region 673 Neighboring gene mitochondrial ribosomal protein S6 pseudogene 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:51375804-51376372 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:51376373-51376941 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:51418325-51418899 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1012 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 864 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 865 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 867 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1013 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 866 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1014 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1015 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1016 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1017 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 868 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 869 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 870 Neighboring gene CRISPRi-validated cis-regulatory element chr1.6035 Neighboring gene cyclin dependent kinase inhibitor 2C Neighboring gene microRNA 4421

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. Fas-associated factor 1 and Parkinson's disease. Betarbet R, et al. Neurobiol Dis, 2008 Sep. PMID 18573343, Free PMC Article
  2. C(18)H(17)NO(6) and Its Combination with Scutellarin Suppress the Proliferation and Induce the Apoptosis of Human Glioma Cells via Upregulation of Fas-Associated Factor 1 Expression. He XY, et al. Biomed Res Int, 2019. PMID 30915356, Free PMC Article
  3. Crystallization and preliminary X-ray crystallographic analysis of human FAF1 UBX domain. Kang W, et al. Acta Crystallogr Sect F Struct Biol Cryst Commun, 2010 Feb 1. PMID 20124726, Free PMC Article
  4. A novel function of FAF1, which induces dopaminergic neuronal death through cell-to-cell transmission. Park G, et al. Cell Commun Signal, 2020 Aug 24. PMID 32831099, Free PMC Article
  5. Sanguinarine exhibits antitumor activity via up-regulation of Fas-associated factor 1 in non-small cell lung cancer. Wei G, et al. J Biochem Mol Toxicol, 2017 Aug. PMID 28296008

See all (137) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Association analysis of SNPs in GRHL3, FAF1, and KCNJ2 with NSCPO sub-phenotypes in Han Chinese.
    Title: Association analysis of SNPs in GRHL3, FAF1, and KCNJ2 with NSCPO sub-phenotypes in Han Chinese.
  2. FAF1 downregulation by Toxoplasma gondii enables host IRF3 mobilization and promotes parasite growth.
    Title: FAF1 downregulation by Toxoplasma gondii enables host IRF3 mobilization and promotes parasite growth.
  3. USP7 and VCP(FAF1) define the SUMO/Ubiquitin landscape at the DNA replication fork.
    Title: USP7 and VCP(FAF1) define the SUMO/Ubiquitin landscape at the DNA replication fork.
  4. A novel function of FAF1, which induces dopaminergic neuronal death through cell-to-cell transmission.
    Title: A novel function of FAF1, which induces dopaminergic neuronal death through cell-to-cell transmission.
  5. Germline Mutations in FAF1 Are Associated With Hereditary Colorectal Cancer.
    Title: Germline Mutations in FAF1 Are Associated With Hereditary Colorectal Cancer.
  6. the mechanisms of FAF1/SIM-mediated MR transrepression involve inhibition of MR N/C interactions and promotion of MR polyubiquitination and degradation.
    Title: Identification of two independent SUMO-interacting motifs in Fas-associated factor 1 (FAF1): Implications for mineralocorticoid receptor (MR)-mediated transcriptional regulation.
  7. C18H17NO6 and Scutellarin in the study. In molecular level, the mRNA and protein expression of Fas-associated factor 1 (FAF1) expression in U251 and LN229 were upregulated by C18H17NO6 and its combination with Scutellarin, especially the protein expression.
    Title: C(18)H(17)NO(6) and Its Combination with Scutellarin Suppress the Proliferation and Induce the Apoptosis of Human Glioma Cells via Upregulation of Fas-Associated Factor 1 Expression.
  8. These findings establish FAF1 as a modulator of MAVS and uncover mechanisms that regulate FAF1 to insure timely activation of antiviral defense.
    Title: FAF1 Regulates Antiviral Immunity by Inhibiting MAVS but Is Antagonized by Phosphorylation upon Viral Infection.
  9. Data show that activated proto-oncogene protein Akt (AKT) directly phosphorylates Fas associated factor 1 (FAF1) reduces FAF1 at the plasma membrane and results in an increase in TGF-beta type II receptor (TbetaRII) at the cell surface.
    Title: FAF1 phosphorylation by AKT accumulates TGF-β type II receptor and drives breast cancer metastasis.
  10. FAF1 was vital in the proliferation of NP cells by modulating the Erk signaling pathway, which suggests that FAF1 may be a novel marker in the early diagnosis of Intervertebral disc degeneration.
    Title: Long non‑coding RNA FAF1 promotes intervertebral disc degeneration by targeting the Erk signaling pathway.
Submit: New GeneRIF Correction See all GeneRIFs (48)

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

EBI GWAS Catalog

Description
Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction.
EBI GWAS Catalog
Genome-wide association study of comorbid depressive syndrome and alcohol dependence.
EBI GWAS Catalog
Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

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

Clone Names

  • FLJ37524

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables NF-kappaB binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables NF-kappaB binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables heat shock protein binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein domain specific binding IEA
Inferred from Electronic Annotation
more info
  
enables protein kinase binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein kinase regulator activity NAS
Non-traceable Author Statement
more info
 PubMed 
enables ubiquitin binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables ubiquitin binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables ubiquitin protein ligase binding IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in ERAD pathway IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in apoptotic process IEA
Inferred from Electronic Annotation
more info
  
involved_in cytoplasmic sequestering of NF-kappaB IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of DNA replication IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of apoptotic process NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in positive regulation of extrinsic apoptotic signaling pathway via death domain receptors IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of protein catabolic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of protein-containing complex assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in regulation of cell adhesion IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of protein catabolic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
part_of CD95 death-inducing signaling complex NAS
Non-traceable Author Statement
more info
 PubMed 
part_of VCP-NPL4-UFD1 AAA ATPase complex IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nuclear envelope IEA
Inferred from Electronic Annotation
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in ooplasm IEA
Inferred from Electronic Annotation
more info
  
located_in perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
FAS-associated factor 1
Names
Fas (TNFRSF6) associated factor 1
TNFRSF6-associated factor 1
UBX domain protein 3A
UBX domain-containing protein 12
UBX domain-containing protein 3A

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.

mRNA and Protein(s)

  1. NM_007051.3 → NP_008982.1  FAS-associated factor 1

    See identical proteins and their annotated locations for NP_008982.1

    Status: REVIEWED

    Source sequence(s)
    AL049637, AL359977, BC004970, KF495936
    Consensus CDS
    CCDS554.1
    UniProtKB/Swiss-Prot
    Q549F0, Q9UF34, Q9UNN5, Q9UNT3, Q9Y2Z3
    UniProtKB/TrEMBL
    A8K9X5
    Related
    ENSP00000379457.2, ENST00000396153.7
    Conserved Domains (4) summary
    cd01771
    Location:570 → 649
    Faf1_UBX; Faf1 UBX domain
    cd02990
    Location:352 → 487
    UAS_FAF1; UAS family, FAS-associated factor 1 (FAF1) subfamily; FAF1 contains a UAS domain of unknown function N-terminal to a ubiquitin-associated UBX domain. FAF1 also contains ubiquitin-associated UBA and nuclear targeting domains, N-terminal to the UAS domain. ...
    cd14413
    Location:14 → 46
    UBA_FAF1; UBA-like domain found in FAS-associated factor 1 (FAF1) and similar proteins
    pfam00836
    Location:471 → 559
    Stathmin; Stathmin family

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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    50437028..50960267 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047442745.1 → XP_047298701.1  FAS-associated factor 1 isoform X2

  2. XM_047442743.1 → XP_047298699.1  FAS-associated factor 1 isoform X2

  3. XM_024452734.2 → XP_024308502.1  FAS-associated factor 1 isoform X1

    UniProtKB/TrEMBL
    A8K9X5
    Conserved Domains (4) summary
    cd01771
    Location:562 → 641
    Faf1_UBX; Faf1 UBX domain
    cd02990
    Location:344 → 479
    UAS_FAF1; UAS family, FAS-associated factor 1 (FAF1) subfamily; FAF1 contains a UAS domain of unknown function N-terminal to a ubiquitin-associated UBX domain. FAF1 also contains ubiquitin-associated UBA and nuclear targeting domains, N-terminal to the UAS domain. ...
    cd14413
    Location:6 → 38
    UBA_FAF1; UBA-like domain found in FAS-associated factor 1 (FAF1) and similar proteins
    pfam09731
    Location:482 → 587
    Mitofilin; Mitochondrial inner membrane protein

  4. XM_024452736.2 → XP_024308504.1  FAS-associated factor 1 isoform X3

    UniProtKB/TrEMBL
    A8K9X5
    Conserved Domains (3) summary
    cd01771
    Location:461 → 540
    Faf1_UBX; Faf1 UBX domain
    cd02990
    Location:243 → 378
    UAS_FAF1; UAS family, FAS-associated factor 1 (FAF1) subfamily; FAF1 contains a UAS domain of unknown function N-terminal to a ubiquitin-associated UBX domain. FAF1 also contains ubiquitin-associated UBA and nuclear targeting domains, N-terminal to the UAS domain. ...
    pfam09731
    Location:381 → 486
    Mitofilin; Mitochondrial inner membrane protein

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    50316640..50840146 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054333974.1 → XP_054189949.1  FAS-associated factor 1 isoform X2

  2. XM_054333973.1 → XP_054189948.1  FAS-associated factor 1 isoform X2

  3. XM_054333972.1 → XP_054189947.1  FAS-associated factor 1 isoform X1

  4. XM_054333975.1 → XP_054189950.1  FAS-associated factor 1 isoform X3

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_131917.1: Suppressed sequence

    Description
    NM_131917.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9UNN5.2 GenPept UniProtKB/Swiss-Prot:Q9UNN5

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
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