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

FAF1 - Fas associated factor 1 Gene

中文名称:Fas 相关因子 1

种属: Homo sapiens

同用名: hFAF1; CGI-03; HFAF1s; UBXD12; UBXN3A

基因 ID: 11124 | 基因类型: protein coding

关于 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.

功能概要

Fas 配体 (TNFSF6) 与 FAS 抗原 (TNFRSF6) 的相互作用介导许多器官系统中的程序性细胞死亡,也称为细胞凋亡。该基因编码的蛋白质与 FAS 抗原结合,可以启动细胞凋亡或增强通过 FAS 抗原启动的细胞凋亡。由该基因编码的蛋白质启动细胞凋亡需要泛素样结构域而不是 FAS 结合结构域。[RefSeq 提供,2008 年 7 月]

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 基因产物(1)

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

FAF1 蛋白结构

UBA_4

UBA_4: UBA-like domain (10 - 42)

UBX

UBX: UBX domain (569 - 647)

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  • 650 a.a.
蛋白主名 其他名称

FAS-associated factor 1

Fas (TNFRSF6) associated factor 1

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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