Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Entrez ID	11124
Gene name	Fas associated factor 1
Gene symbol	FAF1
Synonyms (NCBI Gene)	CGI-03HFAF1sUBXD12UBXN3AhFAF1
Chromosome	1
Chromosome location	1p32.3
Summary	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

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miRTarBase ID	miRNA	Experiments	Reference
MIRT003319	hsa-miR-146a-5p	GFP reporter assayqRT-PCR	20459811
MIRT006507	hsa-miR-24-3p	Luciferase reporter assayWestern blot	20195546
MIRT006507	hsa-miR-24-3p	Luciferase reporter assayWestern blot	20195546
MIRT006507	hsa-miR-24-3p	Luciferase reporter assayWestern blot	20195546
MIRT006507	hsa-miR-24-3p	Luciferase reporter assayWestern blot	20195546
MIRT006507	hsa-miR-24-3p	Luciferase reporter assayWestern blot	20195546
MIRT006507	hsa-miR-24-3p	Luciferase reporter assayWestern blot	20195546
MIRT006507	hsa-miR-24-3p	Luciferase reporter assayWestern blot	20195546
MIRT006507	hsa-miR-24-3p	Luciferase reporter assayWestern blot	20195546
MIRT029548	hsa-miR-26b-5p	Microarray	19088304
MIRT049059	hsa-miR-92a-3p	CLASH	23622248
MIRT041754	hsa-miR-484	CLASH	23622248
MIRT041238	hsa-miR-193b-3p	CLASH	23622248
MIRT975113	hsa-miR-1293	CLIP-seq
MIRT975114	hsa-miR-139-3p	CLIP-seq
MIRT975115	hsa-miR-1827	CLIP-seq
MIRT975116	hsa-miR-298	CLIP-seq
MIRT975117	hsa-miR-338-3p	CLIP-seq
MIRT975118	hsa-miR-3940-5p	CLIP-seq
MIRT975119	hsa-miR-4483	CLIP-seq
MIRT975120	hsa-miR-4507	CLIP-seq
MIRT975121	hsa-miR-450b-5p	CLIP-seq
MIRT975122	hsa-miR-4530	CLIP-seq
MIRT975123	hsa-miR-4696	CLIP-seq
MIRT975124	hsa-miR-4795-3p	CLIP-seq
MIRT975125	hsa-miR-507	CLIP-seq
MIRT975126	hsa-miR-556-3p	CLIP-seq
MIRT975127	hsa-miR-557	CLIP-seq
MIRT975128	hsa-miR-562	CLIP-seq
MIRT1988910	hsa-miR-219-2-3p	CLIP-seq
MIRT1988911	hsa-miR-2964a-3p	CLIP-seq
MIRT1988912	hsa-miR-4452	CLIP-seq
MIRT975115	hsa-miR-1827	CLIP-seq
MIRT1988910	hsa-miR-219-2-3p	CLIP-seq
MIRT1988911	hsa-miR-2964a-3p	CLIP-seq
MIRT975116	hsa-miR-298	CLIP-seq
MIRT2223443	hsa-miR-3180-5p	CLIP-seq
MIRT975117	hsa-miR-338-3p	CLIP-seq
MIRT1988912	hsa-miR-4452	CLIP-seq
MIRT2223444	hsa-miR-4504	CLIP-seq
MIRT975121	hsa-miR-450b-5p	CLIP-seq
MIRT975122	hsa-miR-4530	CLIP-seq
MIRT975123	hsa-miR-4696	CLIP-seq
MIRT975125	hsa-miR-507	CLIP-seq
MIRT2223445	hsa-miR-542-3p	CLIP-seq
MIRT975126	hsa-miR-556-3p	CLIP-seq
MIRT975127	hsa-miR-557	CLIP-seq
MIRT2223446	hsa-miR-595	CLIP-seq
MIRT2527281	hsa-miR-1233	CLIP-seq
MIRT975113	hsa-miR-1293	CLIP-seq
MIRT2527282	hsa-miR-129-3p	CLIP-seq
MIRT975114	hsa-miR-139-3p	CLIP-seq
MIRT2527283	hsa-miR-151-5p	CLIP-seq
MIRT2527284	hsa-miR-151b	CLIP-seq
MIRT2527285	hsa-miR-1976	CLIP-seq
MIRT2527286	hsa-miR-3652	CLIP-seq
MIRT975118	hsa-miR-3940-5p	CLIP-seq
MIRT2527287	hsa-miR-4279	CLIP-seq
MIRT2527288	hsa-miR-4430	CLIP-seq
MIRT975119	hsa-miR-4483	CLIP-seq
MIRT2527289	hsa-miR-4505	CLIP-seq
MIRT975120	hsa-miR-4507	CLIP-seq
MIRT2527281	hsa-miR-1233	CLIP-seq
MIRT975113	hsa-miR-1293	CLIP-seq
MIRT2527282	hsa-miR-129-3p	CLIP-seq
MIRT975114	hsa-miR-139-3p	CLIP-seq
MIRT2527283	hsa-miR-151-5p	CLIP-seq
MIRT2527284	hsa-miR-151b	CLIP-seq
MIRT2527285	hsa-miR-1976	CLIP-seq
MIRT2527286	hsa-miR-3652	CLIP-seq
MIRT975118	hsa-miR-3940-5p	CLIP-seq
MIRT2527287	hsa-miR-4279	CLIP-seq
MIRT2527288	hsa-miR-4430	CLIP-seq
MIRT975119	hsa-miR-4483	CLIP-seq
MIRT2527289	hsa-miR-4505	CLIP-seq
MIRT975120	hsa-miR-4507	CLIP-seq

Show/Hide all (2)

Transcription factor	Regulation	Reference
NFKB1	Activation	17046979
RELA	Activation	17046979

Show/Hide all (34)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	15688372, 15743842, 18775313, 21645854, 26842564, 32296183, 32814053, 33961781
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	15596450, 26842564
GO:0005634	Component	Nucleus	IEA
GO:0005635	Component	Nuclear envelope	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005783	Component	Endoplasmic reticulum	IBA
GO:0005829	Component	Cytosol	IDA	15596450
GO:0006915	Process	Apoptotic process	IEA
GO:0012505	Component	Endomembrane system	IEA
GO:0019887	Function	Protein kinase regulator activity	NAS	11713579
GO:0019901	Function	Protein kinase binding	IDA	11713579
GO:0019904	Function	Protein domain specific binding	IEA
GO:0030155	Process	Regulation of cell adhesion	IEA
GO:0031072	Function	Heat shock protein binding	IDA	15596450
GO:0031265	Component	CD95 death-inducing signaling complex	NAS	12702723
GO:0031625	Function	Ubiquitin protein ligase binding	IDA	18775313
GO:0034098	Component	VCP-NPL4-UFD1 AAA ATPase complex	IDA	18775313
GO:0036337	Process	Fas signaling pathway	IMP	15688372
GO:0036503	Process	ERAD pathway	IBA
GO:0042176	Process	Regulation of protein catabolic process	IMP	15743842
GO:0043065	Process	Positive regulation of apoptotic process	NAS	10462485
GO:0043124	Process	Negative regulation of canonical NF-kappaB signal transduction	IMP	14600157
GO:0043130	Function	Ubiquitin binding	IBA
GO:0043130	Function	Ubiquitin binding	IDA	18775313
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	NAS	15743842
GO:0045732	Process	Positive regulation of protein catabolic process	IMP	26842564
GO:0045740	Process	Positive regulation of DNA replication	IMP	26842564
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	11713579
GO:0051059	Function	NF-kappaB binding	IBA
GO:0051059	Function	NF-kappaB binding	IPI	14600157
GO:1902043	Process	Positive regulation of extrinsic apoptotic signaling pathway via death domain receptors	IEA
GO:1990917	Component	Ooplasm	IEA

MIM	HGNC	e!Ensembl
604460	3578	ENSG00000185104

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
DFVASKGFPWDEYKLLSTFPRRDVTQLDPNKSLLEVKLFPQETLFLEAKE

Sequence length

650

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (14)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ANDROGENETIC ALOPECIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANOREXIA NERVOSA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IRRITABLE BOWEL SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LARGE ARTERY STROKE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENTRICULAR ECTOPY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (47)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Alopecia	Alopecia	GWASCAT_DG	28196072		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alopecia, Androgenetic, 1	Androgenetic Alopecia	GWASCAT_DG	29146897		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alopecia, Androgenetic, 2	Androgenetic Alopecia	GWASCAT_DG	29146897		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alopecia, Androgenetic, 3	Androgenetic Alopecia	GWASCAT_DG	29146897		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alopecia, Male Pattern	Alopecia, Male Pattern	GWASCAT_DG	29146897		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	18573343	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	28539126	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Androgenetic Alopecia	Androgenetic Alopecia	GWASCAT_DG	29146897		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial Fibrillation	BEFREE	12782570, 12821245		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial Fibrillation	GWASCAT_DG	29290336		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial fibrillation	Pubtator	29290336	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	BEFREE	22730322, 28443643		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	GWASCAT_DG	29059683		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	22730322	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	24395524	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	32179092	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	25799151		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	25799151		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	25799151, 27115357, 27589775	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	27589775	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	29257270		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GWASCAT_DG	24509480, 26818947, 28869590, 30595370, 30718926		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GWASDB_DG	24509480		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	25799151, 27589775		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	23921907	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Giant Cell Arteritis	Giant Cell Arteritis	BEFREE	23921907		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	30915356	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral disc disease	Pubtator	25280944, 35039758	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral Disc Degeneration	BEFREE	29257270		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intervertebral disc disorder	Intervertebral Disc Disorder	BEFREE	29257270		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	GWASCAT_DG	26732560		★★★★★ ★☆☆☆☆ Found in Text Mining only
Jaw Abnormalities	Jaw Abnormalities	BEFREE	21295280		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	37999107	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	22730322, 28443643		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	23921907		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial complex I deficiency	Mitochondrial complex deficiency	Pubtator	18573343	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	19597341, 22876279, 28030825, 28296008		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	28296008		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	18573343, 23307929, 30992659		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	18573343	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	GWASCAT_DG	28598434		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	28030825		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	23921907	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	21642358	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uranostaphyloschisis	Uranostaphyloschisis	BEFREE	21295280		★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	16004614	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	22876279	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only

FAF1 (Fas associated factor 1)