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... See more...

Aliases for FAF1 Gene

Aliases for FAF1 Gene

  • Fas Associated Factor 1 2 3 5
  • UBXD12 2 3 4
  • UBXN3A 2 3 4
  • HFAF1 2 3 4
  • 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
  • FAS-Associated Factor 1 3 4
  • UBX Domain Protein 3A 2 3
  • CGI-03 2 3
  • HFAF1s 2 3
  • FAF1 5

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 Joubert Syndrome 31 and Brugada Syndrome 9. Among its related pathways are Necroptosis and Apoptosis and Autophagy. 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 Summary for FAF1 Gene

  • Ubiquitin-binding protein (PubMed:19722279). Required for the progression of DNA replication forks by targeting DNA replication licensing factor CDT1 for degradation (PubMed:26842564). Potentiates but cannot initiate FAS-induced apoptosis (By similarity).

Gene Wiki entry for FAF1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FAF1 Gene

Genomics for FAF1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for FAF1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J051513 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 261 -557.5 -557531 7.7 BCLAF1 SP1 ZNF207 MYC IKZF1 NCOR1 ZNF600 ZNF580 ZNF592 ZMYM3 FAF1 EPS15 HSALNG0003578 EPS15-AS1 lnc-OSBPL9-8 OSBPL9 ENSG00000266993 ORC1 PRPF38A KTI12
GH01J050958 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 250.7 +0.2 165 3.8 BCLAF1 SP1 ZNF207 NCOR1 IKZF1 ZNF600 MYC SIX5 SSRP1 ZNF580 CDKN2C FAF1 LOC112268262 ENSG00000266993 DMRTA2
GH01J050931 Enhancer 0.8 Ensembl 11.9 +28.8 28766 0.6 HES1 MNT ELF1 SMARCA4 ZFP37 ZSCAN23 EP400 ZEB2 EGR1 ZBTB33 piR-36588-007 RNF11 FAF1 CDKN2C DMRTA2 piR-33432-010
GH01J050984 Enhancer 0.6 dbSUPER 11.1 -25.1 -25100 1.6 ZBTB48 POLR2A ZFP69B MEIS2 ZNF366 SP3 ZBTB8A PKNOX1 ZEB2 CTBP1 CDKN2C FAF1 EPS15 DMRTA2 HSALNG0003544 piR-42491-007 lnc-FAF1-3 lnc-CDKN2C-1 C1orf185
GH01J050994 Enhancer 0.6 dbSUPER 11.1 -35.9 -35908 2.4 ATF2 MAFF ZNF316 MAFK MAFG LARP7 CREB1 ZNF558 ATF7 ZNF501 CDKN2C FAF1 EPS15 DMRTA2 lnc-FAF1-3 lnc-CDKN2C-1 piR-61101-028 C1orf185
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FAF1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FAF1

Top Transcription factor binding sites by QIAGEN in the FAF1 gene promoter:
  • GATA-1
  • GR
  • GR-alpha
  • IRF-1
  • p53

Genomic Locations for FAF1 Gene

Latest Assembly
chr1:50,437,028-50,960,267
(GRCh38/hg38)
Size:
523,240 bases
Orientation:
Minus strand

Previous Assembly
chr1:50,902,700-51,425,939
(GRCh37/hg19 by Entrez Gene)
Size:
523,240 bases
Orientation:
Minus strand

chr1:50,905,150-51,425,935
(GRCh37/hg19 by Ensembl)
Size:
520,786 bases
Orientation:
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:
    Q9UNN5-FAF1_HUMAN
    Recommended name:
    FAS-associated factor 1
    Protein Accession:
    Q9UNN5
    Secondary Accessions:
    • Q549F0
    • Q9UF34
    • Q9UNT3
    • Q9Y2Z3

    Protein attributes for FAF1 Gene

    Size:
    650 amino acids
    Molecular mass:
    73954 Da
    Quaternary structure:
    • Interacts with CDT1 and ATPase VCP/p97 (PubMed:26842564). Interacts (via UBA domain) with FAS (via death domain) (PubMed:10462485). Interacts (via UBA domain) with NLRP12 (via DAPIN/PYRIN domain) (PubMed:21978668).
    SequenceCaution:
    • 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

    UniProtKB/Swiss-Prot:

neXtProt entry for FAF1 Gene

Post-translational modifications for FAF1 Gene

  • Ubiquitination at Lys139, Lys143, Lys146, Lys157, and Lys221
  • Modification sites at PhosphoSitePlus

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

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

Protein Domains for FAF1 Gene

Suggested Antigen Peptide Sequences for FAF1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ37524 fis, clone BRCAN2007119, highly similar to FAS-associated factor 1 (B3KT28_HUMAN)
  • cDNA FLJ50752, highly similar to FAS-associated factor 1 (B4DEJ6_HUMAN)
  • UBX domain-containing protein 3A (FAF1_HUMAN)
  • Fas-associated protein factor FAF1 (Q549F0_HUMAN)
genes like me logo Genes that share domains with FAF1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for FAF1 Gene

Function for FAF1 Gene

Molecular function for FAF1 Gene

UniProtKB/Swiss-Prot Function:
Ubiquitin-binding protein (PubMed:19722279). Required for the progression of DNA replication forks by targeting DNA replication licensing factor CDT1 for degradation (PubMed:26842564). Potentiates but cannot initiate FAS-induced apoptosis (By similarity).
GENATLAS Biochemistry:
FAS (TNFRSF6) associated factor 1,expressed in testis,skeletal muscle,heart

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 IEA,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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FAF1

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

COMPARTMENTS
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 2
mitochondrion 2
cytoskeleton 1
peroxisome 1
endosome 1
lysosome 1
golgi apparatus 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:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IDA 15596450
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 Cell Signaling Technology 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 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

mRNA/cDNA for FAF1 Gene

2 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FAF1

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: -
SP3:

Relevant External Links for FAF1 Gene

GeneLoc Exon Structure for
FAF1

Expression for FAF1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for FAF1 Gene



Protein tissue co-expression partners for FAF1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FAF1

SOURCE GeneReport for Unigene cluster for FAF1 Gene:

Hs.530402

mRNA Expression by UniProt/SwissProt for FAF1 Gene:

Q9UNN5-FAF1_HUMAN
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(4.8)
  • Kidney(4.5)
  • Liver(4.4)
  • Lung(3.2)
  • Skin(2.8)
  • Muscle(2.4)
  • Heart(2.2)
  • Thyroid gland(2)
  • Intestine(2)
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
Chimpanzee
(Pan troglodytes)
Mammalia FAF1 29 30
  • 99.9 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia FAF1 29 30
  • 95.18 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia FAF1 29 30
  • 94.56 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia FAF1 30
  • 93 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Faf1 29 16 30
  • 92.86 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Faf1 29
  • 92.19 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia FAF1 30
  • 82 (a)
OneToOne
Chicken
(Gallus gallus)
Aves FAF1 29 30
  • 85.07 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia FAF1 30
  • 89 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia faf1 29
  • 76.22 (n)
African clawed frog
(Xenopus laevis)
Amphibia faf1-prov 29
Zebrafish
(Danio rerio)
Actinopterygii faf1 29 30
  • 70.74 (n)
OneToOne
Dr.18567 29
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.268 29
Fruit Fly
(Drosophila melanogaster)
Insecta casp 29 30
  • 48.56 (n)
OneToOne
CG8400 31
  • 32 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006473 29
  • 48.44 (n)
Worm
(Caenorhabditis elegans)
Secernentea ubxn-3 30
  • 21 (a)
OneToMany
ubc-23 30
  • 19 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes UBX3 30
  • 20 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.1031 30
  • 34 (a)
OneToOne
Species where no ortholog for FAF1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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

ENSEMBL:
Gene Tree for FAF1 (if available)
TreeFam:
Gene Tree for FAF1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FAF1: view image
Alliance of Genome Resources:
Additional Orthologs for FAF1

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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FAF1 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs59743675 Benign: not provided 50,491,713(-) A/C
NM_007051.3(FAF1):c.1575+8T>G
INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for FAF1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)
FAF1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FAF1
Leiden Open Variation Database (LOVD)
FAF1

SNP Genotyping and Copy Number Assays for research

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

Disorders for FAF1 Gene

MalaCards: The human disease database

(6) MalaCards diseases for FAF1 Gene - From: COP and GCD

- 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

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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
  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
  3. The UBX domain: a widespread ubiquitin-like module. (PMID: 11243799) Buchberger A … Bycroft M (Journal of molecular biology 2001) 3 4 22
  4. Chromatin-associated degradation is defined by UBXN-3/FAF1 to safeguard DNA replication fork progression. (PMID: 26842564) Franz A … Hoppe T (Nature communications 2016) 3 4
  5. Genome-wide association study of comorbid depressive syndrome and alcohol dependence. (PMID: 22064162) Edwards AC … Dick DM (Psychiatric genetics 2012) 3 40

Products for FAF1 Gene

Sources for FAF1 Gene