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Symbol FAF1 contributors: mct - updated : 08-12-2010
HGNC name Fas (TNFRSF6) associated factor 1
HGNC id 3578
Location 1p32.3      Physical location : 50.906.934 - 51.425.936
Synonym name
  • TNFRSF6-associated factor 1
  • UBX domain protein 3A
  • UBX domain-containing protein 12
  • Synonym symbol(s) CGI-03, FLJ37524, HFAF1s, hFAF1, UBXD12, UBXN3A
    TYPE functioning gene
    STRUCTURE 519.00 kb     19 Exon(s)
    Genomic sequence alignment details
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked   status provisional
    Physical map
    LOC388630 1 similar to LOC129293 protein LOC391037 1 similar to hypothetical protein A430070M19 LOC200010 1p33 hypothetical protein LOC200010 SPATA6 1p32.3 spermatogenesis associated 6 PPP1R8P 1p33-p32 protein phosphatase 1, regulatory (inhibitor) subunit 8 pseudogene FLJ14442 1p33 hypothetical protein FLJ14442 FLJ11588 1p33 hypothetical protein FLJ11588 ELAVL4 1p34 ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D) LOC343184 1p33 similar to ribosomal protein S2 LOC391038 1 similar to Protein C14orf111 (CGI-35) DMRTA2 1p33 DMRT-like family A2 FAF1 1p33 Fas (TNFRSF6) associated factor 1 MRPS6P2 1p33 mitochondrial ribosomal protein S6 pseudogene 2 LOC51336 1p32.3 mesenchymal stem cell protein DSCD28 CDKN2C 1p32 cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4) LOC284546 1p32.3 similar to RIKEN cDNA 4930522H14 LOC391039 1 similar to Cofilin, non-muscle isoform (18 kDa phosphoprotein) (P18) RNF11 1p32-p31 ring finger protein 11 LOC388631 1 similar to ribosomal protein S2; 40S ribosomal protein S2 C1orf34 1p33 chromosome 1 open reading frame 34 EPS15 1p32.2-p31 epidermal growth factor receptor pathway substrate 15 OSBPL9 1p34.2-p32.2 oxysterol binding protein-like 9 NRD1 1p32.2 nardilysin (N-arginine dibasic convertase) RAB3B 1p32-p31 RAB3B, member RAS oncogene family TLP19 1p32.3 endoplasmic reticulum thioredoxin superfamily member, 18 kDa LOC112970 1p32.3 hypothetical protein BC012173 LOC391040 1 similar to RIKEN cDNA 5730434I03 gene MADHIP 1p32.3 MAD, mothers against decapentaplegic homolog (Drosophila) interacting protein, receptor activation anchor KIAA1836 1p32.3 KIAA1836 protein ORC1L 1p32 origin recognition complex, subunit 1-like (yeast) FLJ14936 1p33-p32.1 hypothetical protein FLJ14936 KIAA0191 1p31-32 hypothetical protein FLJ14936 GPX6 6p21.33 glutathione peroxidase 6 (olfactory) MGC52498 1p32.3 hypothetical protein MGC52498 FLJ12439 1p32.3 hypothetical protein FLJ12439 FLJ13456 1p32.3 hypothetical protein FLJ13456 FLJ10948 1p32.3 hypothetical protein FLJ10948 SCP2 1p32 sterol carrier protein 2 PODN 1p32.3 podocan SLC1A7 1p33 solute carrier family 1 (glutamate transporter), member 7 CPT2 1p32 carnitine palmitoyltransferase II FLJ20580 1p32.3 hypothetical protein FLJ20580
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    19 - 2610 - 650 - 2005 15743842
    Type ubiquitous
       expressed in (based on citations)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrinethyroid   highly
    Lymphoid/Immunetonsils   highly
    Reproductivefemale systemovary  highly
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone  highly
    Muscularstriatumskeletal highly
    cell lineage
    cell lines
    at STAGE
    physiological period embryo
    Text highly expressed in several areas of the developing telencephalon
  • a N terminal ubiquitin homology domain (UBA), putatively binding to the DEATH domain of TNFRSF6, and N-terminal domain was sufficient to bind CD40 and required the TRAF6-binding domain within the cytoplasmic tail of CD40 for binding
  • FFAT-like motifs, a non-canonical FFAT motif that allows it to interact directly with the MSP domain of VAPB
  • C-terminal UBX domain
    FAMILY UBA-UBX family of p97 cofactors
    CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    basic FUNCTION
  • potentiates but cannot initiate FAS-induced apoptosis
  • initiation of apoptosis requires a ubiquitin-like domain but not the FAS-binding domain
  • may serve as a scaffolding protein that regulates protein degradation in the ubiquitin-proteasome pathway
  • able to potentiate Fas-induced apoptosis in several cell lines
  • may serve as a scaffolding protein that regulates protein degradation in the ubiquitin-proteasome pathway
  • Fas-binding pro-apoptotic protein, component of the death-inducing signaling complex (DISC) in Fas-mediated apoptosis
  • in neural cell death acts as a Fas-independent apoptotic enhancer
  • multifunctional pro-apoptotic protein that is involved in Fas-mediated apoptosis, NF-kappaB signalling and the ubiquitin-proteasome pathway
  • regulator of cranial neural crest differentiation
  • plays a role in the etiopathogenesis of cleft palate and is a key molecule in development
  • key player in jaw development and that disruptions in this gene are associated with orofacial abnormalities
  • negative regulator of Wnt/Beta-catenin signaling
  • role for FAF1 in regulating CD40-induced NFKB1 activation via a negative feedback loop
  • CELLULAR PROCESS nucleotide, transcription
    ubiquitin-proteasome pathway
    a component member of the Fas death-inducing signaling complex
    small molecule
  • specifically interacts with the cytoplasmic domain of FAS
  • interact with caspase-8 and FADD
  • with VCP, multiubiquitin chain-targeting factor in the degradation of the ubiquitin-proteasome pathway, via the C-terminal UBX domain, and associated with the ubiquitinated proteins via the newly identified N-terminal UBA domain
  • interacts with heat shock protein 70 and negatively regulates chaperone activity
  • phosphorylated by CK2 (influences its transport into the nucleus)
  • interacts with IKBKB in response to proinflammatory stimuli (such as tumor necrosis factor-alpha, interleukin-1beta, and lipopolysaccharide) and suppresses IKK activation
  • binds to the N domain of VCP, a molecular chaperone that acts in complex with the proteasome, through its C-terminal UBX domain and inhibits the proteasomal protein-degradation process
  • interact with CTNNB1 upon inhibition of proteasome
  • FAF1 was able to interact with CD40
  • VAPB/ALS8 interacts with FFAT-like proteins including the VCP cofactor FAF1 and the ASNA1 ATPase
  • cell & other
    inhibited by during apoptosis in a caspase- and APAF1-dependent manner
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    specifically in gastric carcinomas contained signet ring cells
    constitutional     --over  
    significantly increased in frontal cortex of Parkinson disease as well as in Parkinson disease cases with Alzheimer's disease (AD) pathology compared to control case
    constitutional     --low  
    in sporadic cleft palate patients (lack of Faf1 may disrupt chondrogenesis by altering differentiation of cranial neural crest cells derived from the first pharyngeal arch)
  • to Crohn disease
  • to cleft palate
  • Variant & Polymorphism other
  • Crohn disease-associated polymorphisms play a role in disease progression and might be useful in identifying patients who could benefit from an early top-down treatment approach
  • variant increasing the risk of cleft palate
  • Candidate gene
    Therapy target