1. Gene
  2. ARFRP1 - ADP ribosylation factor related protein 1 Gene

ARFRP1 - ADP ribosylation factor related protein 1 Gene

中文名称:ADP 核糖基化因子相关蛋白 1

种属: Homo sapiens

同用名: ARP; Arp1; ARL18

基因 ID: 10139 | 基因类型: protein coding

关于 ARFRP1

Cytogenetic location: 20q13.33 Genomic coordinates (GRCh38): 20:63,698,647-63,707,976 (from NCBI)

Ubiquitous expression in spleen (RPKM 7.0), fat (RPKM 5.7) and 25 other tissues.

功能概要

由该基因编码的蛋白质是一种膜相关 GTP 酶,它定位于质膜并与 ADP 核糖基化因子 (ARF) 和 ARF 样 (ARL) 蛋白相关。该基因在跨高尔基体网络和核内体之间的膜运输中发挥作用。已经鉴定出编码不同亚型的选择性剪接转录物变体。[RefSeq 提供,2012 年 5 月]

The protein encoded by this gene is a membrane-associated GTP-ase which localizes to the plasma membrane and is related to the ADP-ribosylation factor (ARF) and ARF-like (ARL) proteins. This gene plays a role in membrane trafficking between the trans-Golgi network and endosomes. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, May 2012]

ARFRP1 基因产物(8)

mRNA Protein Name
NM_001134758.4 NP_001128230.1 ADP-ribosylation factor-related protein 1 isoform b
NM_001267544.3 NP_001254473.1 ADP-ribosylation factor-related protein 1 isoform c
NM_001267545.3 NP_001254474.1 ADP-ribosylation factor-related protein 1 isoform d
NM_001267546.3 NP_001254475.1 ADP-ribosylation factor-related protein 1 isoform e
NM_001267547.3 NP_001254476.1 ADP-ribosylation factor-related protein 1 isoform a
NM_001267548.3 NP_001254477.1 ADP-ribosylation factor-related protein 1 isoform a
NM_001267549.3 NP_001254478.1 ADP-ribosylation factor-related protein 1 isoform b
NM_003224.6 NP_003215.1 ADP-ribosylation factor-related protein 1 isoform a
基因本体论
  • 生物过程
  • 细胞组分
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in Golgi to plasma membrane protein transport IMP
IMP: 通过突变表型推断
16129887 GOA
involved in protein localization to Golgi apparatus IMP
IMP: 通过突变表型推断
19224922 GOA
involved in retrograde transport, endosome to Golgi IMP
IMP: 通过突变表型推断
16129887 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in Golgi apparatus IDA
IDA: 通过直接分析推断
19224922 GOA
located in trans-Golgi network IDA
IDA: 通过直接分析推断
16129887 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

ARFRP1 蛋白结构

Arf

Arf: ADP-ribosylation factor family (10 - 185)

  • 0
  • 100
  • 201 a.a.
蛋白主名 其他名称

ADP-ribosylation factor-related protein 1

ARF-related protein 1

ARFRP1 抗体

目录号 产品名 应用 反应物种
HY-P81894 ARFRP1 Antibody (YA1639) WB, IP Rat

关联疾病

疾病名称 别名
Wiskott-Aldrich Syndrome

WAS

Eczema-Thrombocytopenia-Immunodeficiency Syndrome

Immunodeficiency 2

Aldrich Syndrome

Imd2

Wiskott-Aldrich Syndrome 1

Was1

Wiskott Syndrome

Wiskott Aldrich Syndrome

Eczema Thrombocytopenia Immunodeficiency Syndrome

Imd 2

Hematocele Of Tunica Vaginalis Testis

Hematocele

Male Hematocele

Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma

Mednik Syndrome

Erythrokeratodermia Variabilis 3

MEDNIK

Ekv3

Erythrokeratodermia Variabilis, Kamouraska Type

Mental Retardation, Enteropathy, Deafness, Neuropathy, Ichthyosis, Keratodermia

Intellectual Disability-Enteropathy-Deafness-Peripheral Neuropathy-Ichthyosis-Keratodermia Syndrome

Intellectual Disability-Enteropathy-Hearing Loss-Peripheral Neuropathy-Ichthyosis-Keratodermia Syndrome

Intellectual Disability, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma

Erythrokeratodermia Variabilis Kamouraska Type

Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, Keratoderma

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
Felis catus ARFRP1 VGNC VGNC:98510
Rattus norvegicus ARFRP1 RGD RGD:621683
Bos taurus ARFRP1 VGNC VGNC:26069
Macaca mulatta ARFRP1 VGNC VGNC:70003
Mus musculus ARFRP1 MGD MGI:1923938
Canis familiaris ARFRP1 VGNC VGNC:38040