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

Gene ID: 11124, updated on 9-Dec-2018

Summary

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
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

Genomic context

See FAF1 in Genome Data Viewer
Location:
1p32.3
Exon count:
21
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (50441263..50960264, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (50906935..51425936, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378714 Neighboring gene uncharacterized LOC105378715 Neighboring gene DMRT like family A2 Neighboring gene VISTA enhancer hs194 Neighboring gene RNA, U6 small nuclear 1026, pseudogene Neighboring gene VISTA enhancer hs200 Neighboring gene prohibitin pseudogene 12 Neighboring gene mitochondrial ribosomal protein S6 pseudogene 2 Neighboring gene uncharacterized LOC112268262 Neighboring gene cyclin dependent kinase inhibitor 2C Neighboring gene microRNA 4421

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ37524

Gene Ontology Provided by GOA

Function Evidence Code Pubs
NF-kappaB binding IPI
Inferred from Physical Interaction
more info
PubMed 
heat shock protein binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein domain specific binding IEA
Inferred from Electronic Annotation
more info
 
protein kinase binding IDA
Inferred from Direct Assay
more info
PubMed 
protein kinase regulator activity NAS
Non-traceable Author Statement
more info
PubMed 
ubiquitin binding IDA
Inferred from Direct Assay
more info
PubMed 
ubiquitin protein ligase binding IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
CD95 death-inducing signaling complex NAS
Non-traceable Author Statement
more info
PubMed 
VCP-NPL4-UFD1 AAA ATPase complex IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
nuclear envelope IEA
Inferred from Electronic Annotation
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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)

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_007051.3NP_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
    Q9UNN5
    Related
    ENSP00000379457.2, ENST00000396153.6
    Conserved Domains (4) summary
    cd01771
    Location:570649
    Faf1_UBX; Faf1 UBX domain
    cd02990
    Location:352487
    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:1446
    UBA_FAF1; UBA-like domain found in FAS-associated factor 1 (FAF1) and similar proteins
    pfam00836
    Location:471559
    Stathmin; Stathmin family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

    Range
    50441263..50960264 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024452736.1XP_024308504.1  FAS-associated factor 1 isoform X2

    Conserved Domains (3) summary
    cd01771
    Location:461540
    Faf1_UBX; Faf1 UBX domain
    cd02990
    Location:243378
    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:381486
    Mitofilin; Mitochondrial inner membrane protein
  2. XM_017000136.1XP_016855625.1  FAS-associated factor 1 isoform X2

    Conserved Domains (3) summary
    cd01771
    Location:461540
    Faf1_UBX; Faf1 UBX domain
    cd02990
    Location:243378
    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:381486
    Mitofilin; Mitochondrial inner membrane protein
  3. XM_024452734.1XP_024308502.1  FAS-associated factor 1 isoform X1

    Conserved Domains (4) summary
    cd01771
    Location:562641
    Faf1_UBX; Faf1 UBX domain
    cd02990
    Location:344479
    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:638
    UBA_FAF1; UBA-like domain found in FAS-associated factor 1 (FAF1) and similar proteins
    pfam09731
    Location:482587
    Mitofilin; Mitochondrial inner membrane protein

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.
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