Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
11124
Gene name Gene Name - the full gene name approved by the HGNC.
Fas associated factor 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
FAF1
Synonyms (NCBI Gene) Gene synonyms aliases
CGI-03, HFAF1s, UBXD12, UBXN3A, hFAF1
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p32.3
Summary Summary of gene provided in NCBI Entrez 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 in
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT003319 hsa-miR-146a-5p GFP reporter assay, qRT-PCR 20459811
MIRT006507 hsa-miR-24-3p Luciferase reporter assay, Western blot 20195546
MIRT006507 hsa-miR-24-3p Luciferase reporter assay, Western blot 20195546
MIRT006507 hsa-miR-24-3p Luciferase reporter assay, Western blot 20195546
MIRT006507 hsa-miR-24-3p Luciferase reporter assay, Western blot 20195546
Transcription factors
Transcription factor Regulation Reference
NFKB1 Activation 17046979
RELA Activation 17046979
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 15688372, 15743842, 26842564, 32296183, 32814053
GO:0005634 Component Nucleus IDA 15596450, 26842564
GO:0005635 Component Nuclear envelope IEA
GO:0005654 Component Nucleoplasm IDA
GO:0005829 Component Cytosol IDA 15596450
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
604460 3578 ENSG00000185104
Protein
UniProt ID Q9UNN5
Protein name FAS-associated factor 1 (hFAF1) (UBX domain-containing protein 12) (UBX domain-containing protein 3A)
Protein 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 si
PDB 1H8C , 2DZM , 2EC4 , 3E21 , 3QC8 , 3QCA , 3QQ8 , 3QWZ , 3QX1 , 3R3M , 7FGM , 7FGN , 8KG2
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF14555 UBA_4 8 43 Domain
PF00789 UBX 568 648 UBX domain Domain
Tissue specificity 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:0000269|PubMed:10462485}.
Sequence
MASNMDREMILADFQACTGIENIDEAITLLEQNNWDLVAAINGVIPQENGILQSEYGGET
IPGPAFNPASHPASAPTSSSSSAFRPVMPSRQIVERQPRMLDFRVEYRDRNVDVVLEDTC
TVGEIKQILENELQIPVSKMLLKGWKTGDVEDSTVLKSLHLPKNNSLYVLTPDLPPPSSS
SHAGALQESLNQNFMLIITHREVQREYNLNFSGSSTIQEVKRNVYDLTSIPVRHQLWEGW
PTSATDDSMCLAESGLSYPCHRLTVGRRSSPAQTREQSEEQITDVHMVSDSDGDDFEDAT
EFGVDDGEVFGMASSALRKSPMMPENAENEGDALLQFTAEFSSRYGDCHPVFFIGSLEAA
FQEAFYVKARDRKLLAIYLHHDESVLTNVFCSQMLCAESIVSYLSQNFITWAWDLTKDSN
RARFLTMCNRHFGSVVAQTIRTQKTDQFPLFLIIMGKRSSNEVLNVIQGNTTVDELMMRL
MAAMEIFTAQQQEDIKDEDEREARENVKREQDEAYRLSLEADRAKREAHEREMAEQFRLE
QIRKEQEEEREAIRLSLEQALPPEPKEENAEPVSKLRIRTPSGEFLERRFLASNKLQIVF
DFVASKGFPWDEYKLLSTFPRRDVTQLDPNKSLLEVKLFPQETLFLEA
KE
Sequence length 650
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Atrial fibrillation Atrial Fibrillation rs120074192, rs121908590, rs121908593, rs121434558, rs587776851, rs387906612, rs387906613, rs387906614, rs387906615, rs199472687, rs199472705, rs199473324, rs587777336, rs587777339, rs587777557
View all (6 more)
29290336
Breast carcinoma Breast Carcinoma rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451
View all (71 more)
29059683
Diabetes mellitus Diabetes Mellitus, Non-Insulin-Dependent rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237
View all (293 more)
30718926, 24509480, 30595370, 28869590, 26818947
Renal carcinoma Renal Cell Carcinoma rs121913668, rs121913670, rs121913243, rs786202724 28598434
Unknown
Disease term Disease name Evidence References Source
Ischemic stroke Ischemic stroke 26732560 ClinVar
Diabetes Diabetes GWAS
Atrial Fibrillation Atrial Fibrillation GWAS
Gout Gout GWAS
Associations from Text Mining
Disease Name Relationship Type References
Alzheimer Disease Stimulate 18573343
Alzheimer Disease Associate 28539126
Atrial Fibrillation Associate 29290336
Breast Neoplasms Inhibit 22730322
Breast Neoplasms Associate 24395524
Carcinoma Non Small Cell Lung Associate 37999107
Colorectal Neoplasms Associate 32179092
Diabetes Mellitus Type 2 Associate 25799151, 27115357, 27589775
Diabetes Mellitus Type 2 Stimulate 27589775
Esophageal Neoplasms Stimulate 23921907