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FLASH GENE
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
    DNA
    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
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    19 - 2610 - 650 - 2005 15743842
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Endocrinethyroid   highly
    Lymphoid/Immunetonsils   highly
    Reproductivefemale systemovary  highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone  highly
    Muscularstriatumskeletal highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo
    Text highly expressed in several areas of the developing telencephalon
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • 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
  • HOMOLOGY
    Homologene
    FAMILY UBA-UBX family of p97 cofactors
    CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,nucleus
    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
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    ubiquitin-proteasome pathway
    a component member of the Fas death-inducing signaling complex
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • 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
    REGULATION
    inhibited by during apoptosis in a caspase- and APAF1-dependent manner
    ASSOCIATED DISORDERS
    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)
    Susceptibility
  • 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
    Marker
    Therapy target
    ANIMAL & CELL MODELS