2. Gene
  3. FAF1 - Fas associated factor 1 Gene

FAF1 - Fas associated factor 1 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

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

Gene ID: 11124 | Gene type: protein coding

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 Reference 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 Reference 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 Reference 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

UBA_4: UBA-like domain (10 - 42)

UBX

UBX: UBX domain (569 - 647)

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  • 650 a.a.
Protein Preferred Names Protein Names

FAS-associated factor 1

Fas (TNFRSF6) associated factor 1

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
Bioactive Molecules (2)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-100755 KR-33493 Inhibitor 99.75% Unkown
HY-RS04670 FAF1 Human Pre-designed siRNA Set A Pre-designed Sets / 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