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FAF1 - Fas associated factor 1 Gene

Also Known as hFAF1; CGI-03; HFAF1s; UBXD12; UBXN3A

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 11124

About FAF1

Cytogenetic location: 1p32.3 Genomic coordinates (GRCh38): 1:50,437,028-50,960,267 (from NCBI)

This gene has 4 transcripts (splice variants), 213 orthologues and 4 paralogues. Ubiquitous expression in testis (RPKM 31.0), thyroid (RPKM 14.4) and 25 other tissues.

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 initiated through FAS antigen. Initiation of Apoptosis by the protein encoded by this gene requires a ubiquitin-like domain but not the FAS-binding domain. [provided by RefSeq, Jul 2008]

FAF1 Products (1)

mRNA	Protein	Name
NM_007051.3	NP_008982.1	FAS-associated factor 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables NF-kappaB binding	IPI IPI: Inferred from physical interaction	14600157	GOA
enables heat shock protein binding	IDA IDA: Inferred from direct assay	15596450	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	15688372	GOA
enables protein kinase binding	IDA IDA: Inferred from direct assay	11713579	GOA
enables ubiquitin binding	IDA IDA: Inferred from direct assay	18775313	GOA
enables ubiquitin protein ligase binding	IDA IDA: Inferred from direct assay	18775313	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in cytoplasmic sequestering of NF-kappaB	IMP IMP: Inferred from mutant phenotype	14600157	GOA
involved in positive regulation of DNA replication	IMP IMP: Inferred from mutant phenotype	26842564	GOA
involved in positive regulation of protein catabolic process	IMP IMP: Inferred from mutant phenotype	26842564	GOA
involved in positive regulation of protein-containing complex assembly	IMP IMP: Inferred from mutant phenotype	15688372	GOA
involved in regulation of protein catabolic process	IMP IMP: Inferred from mutant phenotype	15743842	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of VCP-NPL4-UFD1 AAA ATPase complex	IDA IDA: Inferred from direct assay	18775313	GOA
located in cytosol	IDA IDA: Inferred from direct assay	15596450	GOA
located in nucleus	IDA IDA: Inferred from direct assay	15596450	GOA
located in perinuclear region of cytoplasm	IDA IDA: Inferred from direct assay	11713579	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

FAF1 Protein Structure

UBA_4

UBX

0
100
200
300
400
500
600
650 a.a.

Protein Preferred Names	Protein Names
FAS-associated factor 1	Fas (TNFRSF6) associated factor 1

FAF1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	FAF1	Q9UNN5	VCP	Homo sapiens	P55072	Anti Tag CoIP	33961781
Intra	FAF1	Q9UNN5	VCP	Homo sapiens	P55072	Anti Tag CoIP	18775313

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Joubert Syndrome 31	JBTS31
Brugada Syndrome 9	BRGDA9 Brugada Syndrome, Type 9
Amyotrophic Lateral Sclerosis Type 14	Als14 Amyotrophic Lateral Sclerosis 14 Amyotrophic Lateral Sclerosis, With Or Without Frontotemporal Dementia Amyotrophic Lateral Sclerosis 14 With Or Without Frontotemporal Dementia
Amyotrophic Lateral Sclerosis 8	Amyotrophic Lateral Sclerosis Type 8 ALS8 Sclerosis, Lateral, Amyotrophic, Type Type 8
Autoimmune Lymphoproliferative Syndrome	ALPS Canale-Smith Syndrome Autoimmune Lymphoproliferative Syndrome, Type Ia Autoimmune Lymphoproliferative Syndrome, Type Ib Autoimmune Lymphoproliferative Syndrome Type 1, Autosomal Dominant Css Autoimmune Lymphoproliferative Syndrome, Type 1b Autoimmune Lymphoproliferative Syndrome, Type 1a Autoimmune Lymphoproliferative Syndrome, Type I, Autosomal Dominant Fas Deficiency Autoimmune Lymphoproliferative Syndrome 1a ALPS1A Autoimmune Lymphoproliferative Syndrome Type Ia Autoimmune Lymphoproliferative Syndrome 1b ALPS1B Autoimmune Lymphoproliferative Syndrome Type Ib
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Ibmpfd Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia Pagetoid Amyotrophic Lateral Sclerosis Pagetoid Neuroskeletal Syndrome Inclusion Body Myopathy With Paget Disease Of Bone And/Or Frontotemporal Dementia Inclusion Body Myopathy With Early-Onset Paget Disease Of Bone And/Or Frontotemporal Dementia Multisystem Proteinopathy Limb-Girdle Muscular Dystrophy With Paget Disease Of Bone Inclusion Body Myopathy With Paget'S Disease Of Bone And Frontotemporal Dementia Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dement Lower Motor Neuron Degeneration With Paget-Like Bone Disease Muscular Dystrophy, Limb-Girdle, With Paget Disease Of Bone Myopathy, Inclusion Body, With Early-Onset Paget Disease And Frontotemporal Dementia
Cleft Palate, Isolated	Cleft Palate Isolated Cleft Palate CPI Cp Palatoschisis Cleft Palate Isolated Uranostaphyloschisis Congenital Fissure Of Palate Cleft Of Secondary Palate
Parkinson Disease, Late-Onset	Parkinson Disease Parkinson'S Disease PD PARK Parkinson Disease, Susceptibility To Late Onset Parkinson'S Disease Late Onset Parkinson Disease Paralysis Agitans Primary Parkinsonism Idiopathic Parkinson Disease Parkinson'S Parkinson Disease, Late-Onset, Susceptibility To Parkinson Disease, Age Of Onset, Modifier Lewy Body Parkinson Disease Idiopathic Parkinson'S Disease Pd - [Parkinson Disease] Parkinson Disease Nos Parkinson, Nos Primary Parkinson Disease

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	상품명	효과	Purity	Rare Diseases
HY-100755	KR-33493	Inhibitor	99.94%	Unkown
HY-RS04670	FAF1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20732	Faf1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27244	Faf1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	FAF1	RGD	RGD:70987
Mus musculus	FAF1	MGD	MGI:109419
Bos taurus	FAF1	VGNC	VGNC:28705
Canis familiaris	FAF1	VGNC	VGNC:40567
Macaca mulatta	FAF1	VGNC	VGNC:72474
Felis catus	FAF1	VGNC	VGNC:80204
Others	FAF1	NCBI