1. Gene
  2. ARFGAP1 - ADP ribosylation factor GTPase activating protein 1 Gene

ARFGAP1 - ADP ribosylation factor GTPase activating protein 1 Gene

中文名称:ADP 核糖基化因子 GTP 酶激活蛋白 1

种属: Homo sapiens

同用名: ARF1GAP; HRIHFB2281

基因 ID: 55738 | 基因类型: protein coding

关于 ARFGAP1

Cytogenetic location: 20q13.33 Genomic coordinates (GRCh38): 20:63,272,813-63,289,790 (from NCBI)

This gene has 23 transcripts (splice variants), 198 orthologues and 28 paralogues. Ubiquitous expression in spleen (RPKM 11.8), testis (RPKM 11.1) and 25 other tissues.

功能概要

该基因编码的蛋白质是一种 GTPase 激活蛋白,它与高尔基体结合并与 ADP-核糖基化因子 1 相互作用。编码的蛋白质促进 ADP-核糖基化因子 1 结合的 GTP 的水解,并且是解离来自高尔基体衍生的膜和囊泡的外壳蛋白。这些囊泡与靶区室融合需要外壳蛋白的解离。这种蛋白质的活性受磷酸肌苷刺激,受磷脂酰胆碱抑制。可变剪接导致多个转录本变体。[RefSeq 提供,2013 年 7 月]

The protein encoded by this gene is a GTPase-activating protein, which associates with the Golgi apparatus and which interacts with ADP-ribosylation factor 1. The encoded protein promotes hydrolysis of ADP-ribosylation factor 1-bound GTP and is required for the dissociation of coat proteins from Golgi-derived membranes and vesicles. Dissociation of the coat proteins is required for the fusion of these vesicles with target compartments. The activity of this protein is stimulated by phosphoinosides and inhibited by phosphatidylcholine. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

ARFGAP1 基因产物(5)

mRNA Protein Name
NM_001281482.2 NP_001268411.1 ADP-ribosylation factor GTPase-activating protein 1 isoform c
NM_001281483.2 NP_001268412.1 ADP-ribosylation factor GTPase-activating protein 1 isoform d
NM_001281484.2 NP_001268413.1 ADP-ribosylation factor GTPase-activating protein 1 isoform e
NM_018209.4 NP_060679.1 ADP-ribosylation factor GTPase-activating protein 1 isoform a
NM_175609.3 NP_783202.1 ADP-ribosylation factor GTPase-activating protein 1 isoform b

ARFGAP1 蛋白结构

ArfGap

ArfGap: Putative GTPase activating protein for Arf (8 - 115)

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  • 406 a.a.
蛋白主名 其他名称

ADP-ribosylation factor GTPase-activating protein 1

ARF1-directed GTPase-activating protein

ARFGAP1 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
ARFGAP1 Q8N6T3 FOS Homo sapiens Q6FG41 25416956
种属内
ARFGAP1 Q8N6T3 GABARAPL2 Homo sapiens P60520 25416956
种属内
ARFGAP1 Q8N6T3 TRIM23 Homo sapiens P36406 25416956
种属内
ARFGAP1 Q8N6T3 GRN Homo sapiens P28799 25416956
种属内
ARFGAP1 Q8N6T3 KRTAP3-2 Homo sapiens Q9BYR7 25416956
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Ceroid Lipofuscinosis, Neuronal, 4

Ceroid Lipofuscinosis, Neuronal, Parry Type

Cln4b Disease

Neuronal Ceroid Lipofuscinosis 4b

CLN4B

Autosomal Dominant Neuronal Ceroid Lipofuscinosis 4b

Ceroid Lipofuscinosis, Neuronal, 4b, Autosomal Dominant

Adult Neuronal Ceroid Lipofuscinosis

CLN4

Ceroid Lipofuscinosis, Neuronal, 4 , Autosomal Dominant

Neuronal Ceroid Lipofuscinosis 4

Neuronal Ceroid Lipofuscinosis 4 Parry Type

Adult Neuronal Ceroid Lipofuscinosis 4b

Kuf'S Disease Type B

Kuf'S Disease, Autosomal Dominant

Cln4 Disease

Parry Disease

Ceroid Lipofuscinosis, Neuronal 4

Ceroid Lipofuscinosis, Neuronal, 4b , Autosomal Dominant

Kufs Disease Autosomal Dominant

Neuronal Ceroid Lipofuscinosis Parry Type

Ceroid Lipofuscinosis, Neuronal, 4, Parry Type

Lipofuscinosis, Ceroid, Neuronal, Type 4, Parry Type

Hypotrichosis-Lymphedema-Telangiectasia Syndrome

HLTS

Hypotrichosis Lymphedema Telangiectasia Syndrome

Hypotrichosis-Lymphedema-Telangiectasia-Membranoproliferative Glomerulonephritis Syndrome

Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome

Hypersensitivity Reaction Type Iv Disease

Immunoproliferative Disorders

Immunoproliferative Disease

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

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
Macaca mulatta ARFGAP1 VGNC VGNC:69835
Bos taurus ARFGAP1 VGNC VGNC:56176
Felis catus ARFGAP1 VGNC VGNC:59866
Mus musculus ARFGAP1 MGD MGI:2183559
Canis familiaris ARFGAP1 VGNC VGNC:38032
Rattus norvegicus ARFGAP1 RGD RGD:708452