• Gene id: 11124

Gene Summary

• Gene Symbol: FAF1   Gene   UCSC   Ensembl
• Aliases: CGI-03, HFAF1s, UBXD12, UBXN3A, hFAF1
• Gene name: Fas associated factor 1
• Alternate names: FAS-associated factor 1, Fas (TNFRSF6) associated factor 1, TNFRSF6-associated factor 1, UBX domain protein 3A, UBX domain-containing protein 12, UBX domain-containing protein 3A,
• Gene location: 1p32.3 (50960266: 50437027)     Exons: 21     NC_000001.11
• Gene summary(Entrez): 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 in
• OMIM: 604460

Protein Summary

• Protein general information: Q9UNN5  
  • Name: FAS associated factor 1 (hFAF1) (UBX domain containing protein 12) (UBX domain containing protein 3A)
  • Length: 650  
  • Mass: 73954
  • 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. {ECO
• Sequence:

  MASNMDREMILADFQACTGIENIDEAITLLEQNNWDLVAAINGVIPQENGILQSEYGGETIPGPAFNPASHPASA
  PTSSSSSAFRPVMPSRQIVERQPRMLDFRVEYRDRNVDVVLEDTCTVGEIKQILENELQIPVSKMLLKGWKTGDV
  EDSTVLKSLHLPKNNSLYVLTPDLPPPSSSSHAGALQESLNQNFMLIITHREVQREYNLNFSGSSTIQEVKRNVY
  DLTSIPVRHQLWEGWPTSATDDSMCLAESGLSYPCHRLTVGRRSSPAQTREQSEEQITDVHMVSDSDGDDFEDAT
  EFGVDDGEVFGMASSALRKSPMMPENAENEGDALLQFTAEFSSRYGDCHPVFFIGSLEAAFQEAFYVKARDRKLL
  AIYLHHDESVLTNVFCSQMLCAESIVSYLSQNFITWAWDLTKDSNRARFLTMCNRHFGSVVAQTIRTQKTDQFPL
  FLIIMGKRSSNEVLNVIQGNTTVDELMMRLMAAMEIFTAQQQEDIKDEDEREARENVKREQDEAYRLSLEADRAK
  REAHEREMAEQFRLEQIRKEQEEEREAIRLSLEQALPPEPKEENAEPVSKLRIRTPSGEFLERRFLASNKLQIVF
  DFVASKGFPWDEYKLLSTFPRRDVTQLDPNKSLLEVKLFPQETLFLEAKE

• Structural information:
  • Protein Domains: (1..5-)
    (/note="UBA-)
    (/evidence="ECO:0000269|PubMed:19722279-)
    (569..64-)
    (/note="UBX-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00215"-)
  • Interpro: IPR033043  IPR036249  IPR006577  IPR029071  IPR001012  
  • Prosite: PS50033
  • CDD: cd01771
  • PDB: 1H8C 2DZM 2EC4 3E21 3QC8 3QCA 3QQ8 3QWZ 3QX1 3R3M
  • PDBsum: 1H8C 2DZM 2EC4 3E21 3QC8 3QCA 3QQ8 3QWZ 3QX1 3R3M
  • DIP: 38245
  • STRING: ENSP00000379457
• Other Databases: GeneCards:  FAF1  Malacards:  FAF1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0010942	positive regulation of cell death	IDA	biological process
GO:0006915	apoptotic process	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:1902043	positive regulation of extrinsic apoptotic signaling pathway via death domain receptors	IEA	biological process
GO:0030155	regulation of cell adhesion	IEA	biological process
GO:0019904	protein domain specific binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005635	nuclear envelope	IEA	cellular component
GO:0031625	ubiquitin protein ligase binding	IDA	molecular function
GO:0043130	ubiquitin binding	IDA	molecular function
GO:0034098	VCP-NPL4-UFD1 AAA ATPase complex	IDA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0045859	regulation of protein kinase activity	IEA	biological process
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0031072	heat shock protein binding	IDA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0019901	protein kinase binding	IDA	molecular function
GO:0045740	positive regulation of DNA replication	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0042176	regulation of protein catabolic process	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0019887	protein kinase regulator activity	NAS	molecular function
GO:1903364	positive regulation of cellular protein catabolic process	IMP	biological process
GO:0031334	positive regulation of protein-containing complex assembly	IMP	biological process
GO:0051059	NF-kappaB binding	IPI	molecular function
GO:0043161	proteasome-mediated ubiquitin-dependent protein catabolic process	NAS	biological process
GO:0043065	positive regulation of apoptotic process	NAS	biological process
GO:0031265	CD95 death-inducing signaling complex	NAS	cellular component
GO:0008219	cell death	IMP	biological process
GO:0007253	cytoplasmic sequestering of NF-kappaB	IMP	biological process
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04217	Necroptosis

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R