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Aliases for FAF1 Gene

Aliases for FAF1 Gene

  • Fas Associated Factor 1 2 3 5
  • Fas (TNFRSF6) Associated Factor 1 2 3
  • UBX Domain-Containing Protein 12 3 4
  • UBX Domain-Containing Protein 3A 3 4
  • TNFRSF6-Associated Factor 1 2 3
  • UBX Domain Protein 3A 2 3
  • UBXD12 3 4
  • UBXN3A 3 4
  • HFAF1 3 4
  • FAS-Associated Factor 1 3
  • CGI-03 3
  • HFAF1s 3

External Ids for FAF1 Gene

Previous GeneCards Identifiers for FAF1 Gene

  • GC01M050531
  • GC01M049795
  • GC01M050265
  • GC01M050276
  • GC01M050618
  • GC01M050679
  • GC01M050905
  • GC01M049025

Summaries for FAF1 Gene

Entrez Gene Summary for FAF1 Gene

  • 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]

GeneCards Summary for FAF1 Gene

FAF1 (Fas Associated Factor 1) is a Protein Coding gene. Diseases associated with FAF1 include Amyotrophic Lateral Sclerosis Type 14 and Congenital Disorder Of Deglycosylation. Among its related pathways are Necroptosis and Apoptosis and survival Caspase cascade. Gene Ontology (GO) annotations related to this gene include protein kinase binding and protein domain specific binding. An important paralog of this gene is FAF2.

UniProtKB/Swiss-Prot for FAF1 Gene

  • Potentiates but cannot initiate FAS-induced apoptosis.

Gene Wiki entry for FAF1 Gene

Additional gene information for FAF1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FAF1 Gene

Genomics for FAF1 Gene

GeneHancer (GH) Regulatory Elements for FAF1 Gene

Promoters and enhancers for FAF1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01I050958 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 550.8 -0.1 -136 3.2 CLOCK MLX YBX1 FEZF1 DMAP1 YY1 E2F8 ZNF143 SP3 NFYC CDKN2C FAF1 ENSG00000266993
GH01I051513 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 11 -557.5 -557534 7.7 DMAP1 YY1 ZNF213 E2F8 ZNF416 SP3 ZNF610 GLIS1 RCOR2 NBN EPS15 ENSG00000227070 LOC105378720 ENSG00000266993 KTI12 FAF1 LOC100190934 ORC1
GH01I051849 Enhancer 0.9 ENCODE 10.5 -890.4 -890365 1.6 PKNOX1 ATF1 ARNT TCF12 ZNF766 GATA2 ATF7 NCOA1 ZNF592 MEF2D FAF1 ZCCHC11 NRDC ENSG00000266993 GC01M051858 MIR761
GH01I050984 Enhancer 0.7 dbSUPER 11.1 -25.1 -25103 1.6 MEIS2 PKNOX1 KLF17 ZNF335 CTBP1 POLR2A ZNF366 ZBTB48 SRF SP3 CDKN2C FAF1 EPS15 DMRTA2 GC01M050992 GC01M050995
GH01I050994 Enhancer 0.6 dbSUPER 11.1 -35.9 -35911 2.4 MAFG ZNF501 ATF2 MAFF ZNF316 ZNF184 CREB1 ATF7 EMSY MAFK CDKN2C FAF1 EPS15 DMRTA2 GC01M050992 GC01M050995
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around FAF1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the FAF1 gene promoter:

Genomic Locations for FAF1 Gene

Genomic Locations for FAF1 Gene
523,237 bases
Minus strand

Genomic View for FAF1 Gene

Genes around FAF1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FAF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FAF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FAF1 Gene

Proteins for FAF1 Gene

  • Protein details for FAF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    FAS-associated factor 1
    Protein Accession:
    Secondary Accessions:
    • Q549F0
    • Q9UF34
    • Q9UNT3
    • Q9Y2Z3

    Protein attributes for FAF1 Gene

    650 amino acids
    Molecular mass:
    73954 Da
    Quaternary structure:
    • Specifically interacts with the cytoplasmic domain of FAS. Interacts with NLRP12 DAPIN/PYRIN domain via its UBA domain.
    • Sequence=AAD51876.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for FAF1 Gene

    Alternative splice isoforms for FAF1 Gene


neXtProt entry for FAF1 Gene

Post-translational modifications for FAF1 Gene

  • Ubiquitination at Lys139, posLast=143143, Lys146, Lys157, and Lys221

Other Protein References for FAF1 Gene

No data available for DME Specific Peptides for FAF1 Gene

Domains & Families for FAF1 Gene

Gene Families for FAF1 Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for FAF1 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with FAF1: view

No data available for UniProtKB/Swiss-Prot for FAF1 Gene

Function for FAF1 Gene

Molecular function for FAF1 Gene

GENATLAS Biochemistry:
FAS (TNFRSF6) associated factor 1,expressed in testis,skeletal muscle,heart
UniProtKB/Swiss-Prot Function:
Potentiates but cannot initiate FAS-induced apoptosis.

Phenotypes From GWAS Catalog for FAF1 Gene

Gene Ontology (GO) - Molecular Function for FAF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 15688372
GO:0019887 protein kinase regulator activity NAS 11713579
GO:0019901 protein kinase binding IDA 11713579
GO:0019904 protein domain specific binding IEA --
GO:0031072 heat shock protein binding IDA 15596450
genes like me logo Genes that share ontologies with FAF1: view
genes like me logo Genes that share phenotypes with FAF1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for FAF1 Gene

Localization for FAF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FAF1 Gene

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FAF1 gene
Compartment Confidence
plasma membrane 5
nucleus 5
cytosol 5
endoplasmic reticulum 4
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for FAF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 15596450
GO:0005635 nuclear envelope IEA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IDA 15596450
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with FAF1: view

Pathways & Interactions for FAF1 Gene

genes like me logo Genes that share pathways with FAF1: view

Pathways by source for FAF1 Gene

1 KEGG pathway for FAF1 Gene

SIGNOR curated interactions for FAF1 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for FAF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006915 apoptotic process IEA --
GO:0007253 cytoplasmic sequestering of NF-kappaB IMP 14600157
GO:0008219 cell death IEA,IMP 15743842
GO:0010942 positive regulation of cell death IDA 15596450
GO:0030155 regulation of cell adhesion IEA --
genes like me logo Genes that share ontologies with FAF1: view

Drugs & Compounds for FAF1 Gene

(1) Drugs for FAF1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with FAF1: view

Transcripts for FAF1 Gene

Unigene Clusters for FAF1 Gene

Fas (TNFRSF6) associated factor 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for FAF1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13 ^ 14a · 14b
SP1: -
SP2: -

Relevant External Links for FAF1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for FAF1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FAF1 Gene

Protein differential expression in normal tissues from HIPED for FAF1 Gene

This gene is overexpressed in Lymph node (11.7) and Peripheral blood mononuclear cells (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for FAF1 Gene

Protein tissue co-expression partners for FAF1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of FAF1 Gene:


SOURCE GeneReport for Unigene cluster for FAF1 Gene:


mRNA Expression by UniProt/SwissProt for FAF1 Gene:

Tissue specificity: Most abundant in testis, slightly less abundant in skeletal muscle and heart, followed by prostate, thymus, ovary, small intestine, and colon. Not detected in the peripheral blood leukocytes.

Evidence on tissue expression from TISSUES for FAF1 Gene

  • Nervous system(4.7)
  • Kidney(4.3)
  • Liver(4.3)
  • Lung(2.8)
  • Skin(2.1)
genes like me logo Genes that share expression patterns with FAF1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for FAF1 Gene

Orthologs for FAF1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for FAF1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia FAF1 33 34
  • 99.9 (n)
(Bos Taurus)
Mammalia FAF1 33 34
  • 95.18 (n)
(Canis familiaris)
Mammalia FAF1 33 34
  • 94.56 (n)
(Monodelphis domestica)
Mammalia FAF1 34
  • 93 (a)
(Mus musculus)
Mammalia Faf1 33 16 34
  • 92.86 (n)
(Rattus norvegicus)
Mammalia Faf1 33
  • 92.19 (n)
(Ornithorhynchus anatinus)
Mammalia FAF1 34
  • 82 (a)
(Gallus gallus)
Aves FAF1 33 34
  • 85.07 (n)
(Anolis carolinensis)
Reptilia FAF1 34
  • 89 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia faf1 33
  • 76.22 (n)
African clawed frog
(Xenopus laevis)
Amphibia faf1-prov 33
(Danio rerio)
Actinopterygii faf1 33 34
  • 70.74 (n)
Dr.18567 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.268 33
fruit fly
(Drosophila melanogaster)
Insecta casp 33 34
  • 48.56 (n)
CG8400 35
  • 32 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006473 33
  • 48.44 (n)
(Caenorhabditis elegans)
Secernentea ubxn-3 34
  • 21 (a)
ubc-23 34
  • 19 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes UBX3 34
  • 20 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1031 34
  • 34 (a)
Species where no ortholog for FAF1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for FAF1 Gene

Gene Tree for FAF1 (if available)
Gene Tree for FAF1 (if available)

Paralogs for FAF1 Gene

Paralogs for FAF1 Gene

genes like me logo Genes that share paralogs with FAF1: view

Variants for FAF1 Gene

Sequence variations from dbSNP and Humsavar for FAF1 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000000107 -- 50,515,061(-) C/T intron_variant
rs1000002240 -- 50,546,977(-) C/T intron_variant
rs1000016992 -- 50,767,337(-) C/T intron_variant
rs1000020786 -- 50,636,012(-) G/A intron_variant
rs1000021499 -- 50,816,901(-) G/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for FAF1 Gene

Variant ID Type Subtype PubMed ID
esv2662887 CNV deletion 23128226
esv2676818 CNV deletion 23128226
esv3304930 CNV mobile element insertion 20981092
esv3305347 CNV mobile element insertion 20981092
esv3308540 CNV mobile element insertion 20981092
esv3393130 CNV insertion 20981092
esv3406482 CNV insertion 20981092
esv3415111 CNV insertion 20981092
esv3577853 CNV loss 25503493
esv3586014 CNV loss 21293372
esv3586019 CNV loss 21293372
esv3586021 CNV loss 21293372
esv3586022 CNV loss 21293372
esv3586025 CNV loss 21293372
nsv1004803 CNV gain 25217958
nsv1133850 CNV deletion 24896259
nsv1141895 OTHER inversion 24896259
nsv546205 CNV loss 21841781
nsv821 CNV insertion 18451855
nsv832 CNV deletion 18451855

Variation tolerance for FAF1 Gene

Residual Variation Intolerance Score: 12.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.85; 17.83% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FAF1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FAF1 Gene

Disorders for FAF1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for FAF1 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
amyotrophic lateral sclerosis type 14
  • amyotrophic lateral sclerosis 14 with or without frontotemporal dementia
congenital disorder of deglycosylation
  • cddg
amyotrophic lateral sclerosis 8
  • als8
- elite association - COSMIC cancer census association via MalaCards
Search FAF1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for FAF1

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with FAF1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FAF1 Gene

Publications for FAF1 Gene

  1. Identification and characterization of human Fas associated factor 1, hFAF1. (PMID: 10462485) Ryu SW … Kim E (Biochemical and biophysical research communications 1999) 2 3 4 22 58
  2. Structure and interaction of ubiquitin-associated domain of human Fas-associated factor 1. (PMID: 19722279) Song J … Kim EE (Protein science : a publication of the Protein Society 2009) 3 4 22 58
  3. The UBX domain: a widespread ubiquitin-like module. (PMID: 11243799) Buchberger A … Bycroft M (Journal of molecular biology 2001) 3 4 22 58
  4. Genome-wide association study of comorbid depressive syndrome and alcohol dependence. (PMID: 22064162) Edwards AC … Dick DM (Psychiatric genetics 2012) 3 44 58
  5. The NLRP12 pyrin domain: structure, dynamics, and functional insights. (PMID: 21978668) Pinheiro AS … Peti W (Journal of molecular biology 2011) 3 4 58

Products for FAF1 Gene

Sources for FAF1 Gene

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