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Aliases for FAF1 Gene

Aliases for FAF1 Gene

  • Fas Associated Factor 1 2 3
  • Fas (TNFRSF6) Associated Factor 1 2 3 5
  • 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
  • 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 Amyotrophic Lateral Sclerosis 8. Among its related pathways are RB in Cancer and TNF-alpha/NF-kB Signaling Pathway. 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

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

Genomics for FAF1 Gene

Regulatory Elements for FAF1 Gene

Enhancers for FAF1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around FAF1 on UCSC Golden Path with GeneCards custom track

Promoters for FAF1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around FAF1 on UCSC Golden Path with GeneCards custom track

Genomic Location for FAF1 Gene

Chromosome:
1
Start:
50,437,028 bp from pter
End:
50,960,264 bp from pter
Size:
523,237 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:
    • Specifically interacts with the cytoplasmic domain of FAS. Interacts with NLRP12 DAPIN/PYRIN domain via its UBA domain.
    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

Proteomics data for FAF1 Gene at MOPED

Post-translational modifications for FAF1 Gene

  • Ubiquitination at Lys 139, Lys 143, Lys 146, Lys 157, and Lys 221
  • Modification sites at PhosphoSitePlus

Other Protein References for FAF1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for FAF1 Gene

Domains & Families for FAF1 Gene

Gene Families for FAF1 Gene

Protein Domains for FAF1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9UNN5

UniProtKB/Swiss-Prot:

FAF1_HUMAN :
  • Contains 1 UBA domain.
Domain:
  • Contains 1 UBA domain.
  • Contains 1 UBX domain.
genes like me logo Genes that share domains with FAF1: view

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.
genes like me logo Genes that share phenotypes with FAF1: view

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for FAF1 Gene COMPARTMENTS Subcellular localization image for FAF1 gene
Compartment Confidence
cytosol 5
nucleus 5
plasma membrane 5
endoplasmic reticulum 4
extracellular 1

Gene Ontology (GO) - Cellular Components for FAF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IDA 15596450
GO:0034098 VCP-NPL4-UFD1 AAA ATPase complex IDA 18775313
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:0010942 positive regulation of cell death IDA 15596450
GO:0031334 positive regulation of protein complex assembly IMP 15688372
GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process NAS 15743842
GO:0045859 regulation of protein kinase activity NAS 11713579
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:

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
ECgene alternative splicing isoforms for
FAF1

Expression for FAF1 Gene

mRNA expression in normal human tissues 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, MOPED, and MaxQB for FAF1 Gene



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.
genes like me logo Genes that share expression patterns with FAF1: view

Protein tissue co-expression partners for FAF1 Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues 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
cow
(Bos Taurus)
Mammalia FAF1 35
  • 95.18 (n)
  • 97.69 (a)
FAF1 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FAF1 35
  • 94.56 (n)
  • 97.23 (a)
FAF1 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Faf1 35
  • 92.86 (n)
  • 96.3 (a)
Faf1 16
Faf1 36
  • 96 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia FAF1 35
  • 99.9 (n)
  • 99.85 (a)
FAF1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Faf1 35
  • 92.19 (n)
  • 95.22 (a)
oppossum
(Monodelphis domestica)
Mammalia FAF1 36
  • 93 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FAF1 36
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves FAF1 35
  • 85.07 (n)
  • 91.96 (a)
FAF1 36
  • 92 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FAF1 36
  • 89 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia faf1 35
  • 76.22 (n)
  • 85.36 (a)
African clawed frog
(Xenopus laevis)
Amphibia faf1-prov 35
zebrafish
(Danio rerio)
Actinopterygii Dr.18567 35
faf1 35
  • 70.74 (n)
  • 79.6 (a)
faf1 36
  • 75 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.268 35
fruit fly
(Drosophila melanogaster)
Insecta CG8400 37
  • 32 (a)
casp 35
  • 48.56 (n)
  • 37.95 (a)
casp 36
  • 34 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006473 35
  • 48.44 (n)
  • 41.05 (a)
worm
(Caenorhabditis elegans)
Secernentea ubc-23 36
  • 19 (a)
OneToMany
ubxn-3 36
  • 21 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes UBX3 36
  • 20 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1031 36
  • 34 (a)
OneToOne
Species with no ortholog for FAF1:
  • 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

ENSEMBL:
Gene Tree for FAF1 (if available)
TreeFam:
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 Sequence Context AA Info Type
rs2690 -- 50,826,683(-) atctg(G/T)gggga intron-variant
rs967584 -- 50,576,857(+) gatgg(G/T)gatct intron-variant
rs1015085 -- 50,794,996(-) ATTAA(G/T)ATCCT intron-variant
rs946499 -- 50,793,704(-) ACAAT(A/G)AAGGT intron-variant
rs1149790 -- 50,491,837(-) AAAGT(A/T)ATATG intron-variant

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

Variant ID Type Subtype PubMed ID
esv268665 CNV Insertion 20981092
esv274345 CNV Insertion 20981092
esv268038 CNV Insertion 20981092
esv269208 CNV Insertion 20981092
esv272813 CNV Insertion 20981092
esv269625 CNV Insertion 20981092
nsv821 CNV Insertion 18451855
esv2748096 CNV Deletion 23290073
esv2676818 CNV Deletion 23128226
esv2662887 CNV Deletion 23128226
nsv832 CNV Loss 18451855
dgv224n71 CNV Loss 21882294
dgv225n71 CNV Loss 21882294
nsv870748 CNV Loss 21882294

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)

Relevant External Links for FAF1 Gene

Human Gene Mutation Database (HGMD)
FAF1

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

Disorders for FAF1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for FAF1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
amyotrophic lateral sclerosis type 14
  • als14
amyotrophic lateral sclerosis 8
  • amyotrophic lateral sclerosis type 8
- elite association - COSMIC cancer census association via MalaCards
Search FAF1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for FAF1

Genetic Association Database (GAD)
FAF1
Human Genome Epidemiology (HuGE) Navigator
FAF1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FAF1
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 S.-W. … Kim E. (Biochem. Biophys. Res. Commun. 1999) 2 3 4 23 67
  2. Crystallization and preliminary X-ray crystallographic analysis of the N domain of p97/VCP in complex with the UBX domain of FAF1. (PMID: 20057067) Shin H.Y. … Yang J.K. (Acta Crystallogr. Sect. F Struct. Biol. Cryst. Commun. 2010) 3 23
  3. Crystallization and preliminary X-ray crystallographic analysis of human FAF1 UBX domain. (PMID: 20124726) Kang W. … Yang J.K. (Acta Crystallogr. Sect. F Struct. Biol. Cryst. Commun. 2010) 3 23
  4. miR-24 regulates apoptosis by targeting the open reading frame (ORF) region of FAF1 in cancer cells. (PMID: 20195546) Qin W. … Jin Y. (PLoS ONE 2010) 3 23
  5. Structure and interaction of ubiquitin-associated domain of human Fas-associated factor 1. (PMID: 19722279) Song J. … Kim E.E. (Protein Sci. 2009) 3 23

Products for FAF1 Gene

Sources for FAF1 Gene

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