FAF1 (Fas associated factor 1)

Gene

• Entrez ID: 11124
• Gene name: Fas associated factor 1
• Gene symbol: FAF1
• Synonyms: CGI-03, HFAF1s, UBXD12, UBXN3A, hFAF1
• 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

miRNA

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
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
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

Transcription factors

Transcription factor	Regulation	Reference
NFKB1	Activation	17046979
RELA	Activation	17046979

Gene ontology (GO)

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
GO:0006915	Process	Apoptotic process	IEA
GO:0007253	Process	Cytoplasmic sequestering of NF-kappaB	IMP	14600157
GO:0008219	Process	Cell death	IMP	15743842
GO:0010942	Process	Positive regulation of cell death	IDA	15596450
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:0031334	Process	Positive regulation of protein-containing complex assembly	IMP	15688372
GO:0031625	Function	Ubiquitin protein ligase binding	IDA	18775313
GO:0034098	Component	VCP-NPL4-UFD1 AAA ATPase complex	IDA	18775313
GO:0042176	Process	Regulation of protein catabolic process	IMP	15743842
GO:0043065	Process	Positive regulation of apoptotic process	NAS	10462485
GO:0043130	Function	Ubiquitin binding	IDA	18775313
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	NAS	15743842
GO:0045740	Process	Positive regulation of DNA replication	IMP	26842564
GO:0045859	Process	Regulation of protein kinase activity	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	11713579
GO:0051059	Function	NF-kappaB binding	IPI	14600157
GO:1902043	Process	Positive regulation of extrinsic apoptotic signaling pathway via death domain receptors	IEA
GO:1903364	Process	Positive regulation of cellular protein catabolic process	IMP	26842564

Other IDs

• MIM: 604460
• HGNC: 3578
• e!Ensembl: 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

• Sequence:

  MASNMDREMILADFQACTGIENIDEAITLLEQNNWDLVAAINGVIPQENGILQSEYGGET
  IPGPAFNPASHPASAPTSSSSSAFRPVMPSRQIVERQPRMLDFRVEYRDRNVDVVLEDTC
  TVGEIKQILENELQIPVSKMLLKGWKTGDVEDSTVLKSLHLPKNNSLYVLTPDLPPPSSS
  SHAGALQESLNQNFMLIITHREVQREYNLNFSGSSTIQEVKRNVYDLTSIPVRHQLWEGW
  PTSATDDSMCLAESGLSYPCHRLTVGRRSSPAQTREQSEEQITDVHMVSDSDGDDFEDAT
  EFGVDDGEVFGMASSALRKSPMMPENAENEGDALLQFTAEFSSRYGDCHPVFFIGSLEAA
  FQEAFYVKARDRKLLAIYLHHDESVLTNVFCSQMLCAESIVSYLSQNFITWAWDLTKDSN
  RARFLTMCNRHFGSVVAQTIRTQKTDQFPLFLIIMGKRSSNEVLNVIQGNTTVDELMMRL
  MAAMEIFTAQQQEDIKDEDEREARENVKREQDEAYRLSLEADRAKREAHEREMAEQFRLE
  QIRKEQEEEREAIRLSLEQALPPEPKEENAEPVSKLRIRTPSGEFLERRFLASNKLQIVF
  DFVASKGFPWDEYKLLSTFPRRDVTQLDPNKSLLEVKLFPQETLFLEAKE

• Sequence length: 650

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Atrial fibrillation	Atrial Fibrillation	rs120074192, rs121908590, rs121908593, rs121434558, rs587776851, rs387906612, rs387906613, rs387906614, rs387906615, rs199472687, rs199472705, rs199473324, rs587777336, rs587777339, rs587777557, rs587777558, rs587777559, rs587777560, rs886037778, rs769405762, rs770372675	29290336
Breast carcinoma	Breast Carcinoma	rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451, rs397507859, rs80359709, rs80359742, rs80359205, rs80357627, rs80357004, rs80357571, rs80357767, rs80357653, rs80358086, rs80357608, rs28897696, rs41293465, rs146650273, rs63751017, rs63750617, rs63750726, rs63750199, rs63749848, rs398122618, rs398122653, rs397509211, rs80357791, rs121912666, rs587778541, rs121908698, rs536907995, rs587781302, rs140342925, rs587781506, rs587782652, rs587782849, rs587783057, rs10520699, rs11852999, rs139770721, rs374950566, rs786202800, rs863224451, rs377153250, rs747727055, rs876658804, rs780001540, rs760815829, rs878854926, rs775248597, rs886040658, rs886040192, rs786203523, rs886040319, rs397508006, rs587782011, rs1060502772, rs1555461727, rs1553333072, rs1114167702, rs1257401983, rs886040950, rs1060502759, rs774684620, rs142947311, rs1555580883, rs748513310, rs376170600, rs863224499, rs1593909229, rs748453607, rs1294578913, rs1574737047, rs1593909960, rs2081922847, rs2082559544, rs2053694038	29059683
Diabetes mellitus	Diabetes Mellitus, Non-Insulin-Dependent	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs4402960, rs1362648752, rs3745368, rs3792267, rs3842570, rs5030952, rs2975760, rs119489103, rs7903146, rs12255372, rs11196205, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237, rs80356613, rs137852740, rs137852786, rs387906407, rs151344623, rs28938469, rs28936371, rs137852672, rs80356637, rs80356642, rs80356653, rs137852673, rs137852674, rs80356634, rs80356651, rs193929360, rs137853334, rs137853335, rs137853336, rs1600731198, rs137853338, rs121964882, rs121964883, rs387906511, rs121964884, rs121964885, rs2147483647, rs387906512, rs121964887, rs121964888, rs121964889, rs121964890, rs121964891, rs28934878, rs74315383, rs121964893, rs886037620, rs886037621, rs80356663, rs121434593, rs121913150, rs587776825, rs137853236, rs2135842335, rs137853237, rs137853238, rs2135818776, rs1566092470, rs1463923467, rs137853243, rs137853244, rs2135839114, rs137853245, rs2135847417, rs121918407, rs104894005, rs104894006, rs80356655, rs104894008, rs104894009, rs104894010, rs104894011, rs80356654, rs104894016, rs193929376, rs193929374, rs193929375, rs193929373, rs80356666, rs80356669, rs80356664, rs193929366, rs1048095, rs193929355, rs193929356, rs1259467443, rs104893642, rs387906777, rs387906779, rs141804752, rs182349376, rs184917682, rs193922396, rs193922400, rs193922401, rs137852676, rs193922407, rs193922638, rs193922257, rs193922258, rs193922259, rs193922260, rs193922261, rs193922262, rs193922263, rs193922264, rs193922265, rs193922268, rs193921338, rs193922269, rs193922272, rs193922273, rs193922275, rs193922278, rs193922279, rs193922280, rs193922281, rs193922282, rs193922283, rs193922284, rs193922286, rs193922287, rs193922289, rs193922291, rs193922295, rs193922297, rs193922300, rs193922302, rs193922303, rs193922308, rs193922313, rs193922314, rs144723656, rs193922315, rs193922316, rs193922317, rs148311934, rs193922319, rs193922320, rs193922326, rs193922329, rs193922330, rs193922331, rs193922335, rs193922336, rs193922338, rs193922340, rs193922341, rs193922471, rs193922475, rs193922476, rs193922479, rs193922355, rs193922356, rs193922576, rs193922578, rs193922582, rs193922588, rs193922592, rs193922594, rs193922596, rs386134267, rs193922598, rs193922599, rs193922600, rs193922604, rs193922605, rs397514580, rs397515519, rs267601516, rs587780343, rs587780345, rs587780346, rs587780347, rs587780357, rs148954387, rs61736969, rs587783673, rs587783672, rs587783669, rs786204676, rs794727236, rs151344624, rs794727775, rs794727839, rs199946797, rs869320673, rs796065047, rs759072800, rs797045595, rs797045209, rs797045207, rs797045213, rs797045623, rs863225280, rs149703259, rs864321656, rs139964066, rs777870079, rs878853246, rs769268803, rs886039380, rs886041392, rs886041391, rs886042610, rs143064649, rs1057516192, rs746480424, rs1057516281, rs576684889, rs754728827, rs1057520291, rs1057520779, rs893256143, rs1057520504, rs1057524790, rs1057524902, rs1057524904, rs1057524905, rs764232985, rs1064793998, rs1064794268, rs769086289, rs369429452, rs1085307913, rs1131691416, rs765432081, rs1131692182, rs748749585, rs1554335441, rs762263694, rs1312678560, rs767565869, rs1375656631, rs1554335391, rs1360415315, rs1554335616, rs1554335752, rs1554909277, rs769518471, rs757171524, rs768951263, rs762703502, rs1555212248, rs1555212359, rs1555813319, rs1555816654, rs1553638903, rs1553638909, rs948820149, rs371977235, rs1553784995, rs76474829, rs200998587, rs1415041911, rs1554334894, rs1260178539, rs1554335421, rs1555211904, rs779184183, rs1554335564, rs200670692, rs1400535021, rs1554334872, rs1555212749, rs1553876668, rs1553878211, rs954727530, rs1554924035, rs372307320, rs925231098, rs1554913069, rs1554933565, rs766431403, rs746714109, rs751279984, rs770664202, rs1008906426, rs758844607, rs1554924540, rs1566092307, rs753998395, rs1565885935, rs1167124132, rs1376796469, rs556436603, rs1562715657, rs1486280029, rs1564869850, rs755259997, rs769569410, rs1172328722, rs1286294151, rs1375557127, rs1568731279, rs1562715426, rs556581174, rs1564865302, rs1565886545, rs776793516, rs1568724014, rs1392795567, rs781260712, rs1562719705, rs1382448285, rs1564977373, rs750586210, rs1598842892, rs1583592247, rs780612692, rs1593060859, rs1476637197, rs751279776, rs1593060890, rs1191912908, rs1167675604, rs1583601110, rs1593058932, rs778611627, rs753296261	30718926, 24509480, 30595370, 28869590, 26818947
Renal carcinoma	Renal Cell Carcinoma	rs121913668, rs121913670, rs121913243, rs786202724	28598434

Unknown
Disease name	Disease term	dbSNP ID	References
Alopecia	Alopecia		28196072
Alopecia, male pattern	Alopecia, Male Pattern		29146897
Androgenetic alopecia	Androgenetic Alopecia, Alopecia, Androgenetic, 3, Alopecia, Androgenetic, 2, Alopecia, Androgenetic, 1		29146897
Ischemic stroke	Ischemic stroke	rs6025, rs1799963, rs1799983	26732560