1. Gene
  2. ADPRH - ADP-ribosylarginine hydrolase Gene

ADPRH - ADP-ribosylarginine hydrolase Gene

中文名称:ADP-核糖精氨酸水解酶

种属: Homo sapiens

同用名: ARH1; hARH1

基因 ID: 141 | 基因类型: protein coding

关于 ADPRH

Cytogenetic location: 3q13.33 Genomic coordinates (GRCh38): 3:119,579,492-119,589,945 (from NCBI)

This gene has 7 transcripts (splice variants), 191 orthologues and 1 paralogue. Ubiquitous expression in lung (RPKM 7.2), spleen (RPKM 6.0) and 25 other tissues.

功能概要

由该基因编码的酶在 ADP-核糖基化循环中催化从蛋白质精氨酸残基中去除单-ADP-核糖。与需要 DTT 才能发挥最大活性的大鼠和小鼠酶不同,人类酶不依赖于 DTT。已经描述了编码不同蛋白质同种型的可变剪接转录物变体。[RefSeq 提供,2014 年 5 月]

The Enzyme encoded by this gene catalyzes removal of mono-ADP-ribose from arginine residues of proteins in the ADP-ribosylation cycle. Unlike the rat and mouse enzymes that require DTT for maximal activity, the human Enzyme is DTT-independent. Alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, May 2014]

ADPRH 基因产物(5)

mRNA Protein Name
NM_001125.4 NP_001116.1 ADP-ribosylarginine hydrolase isoform 1
NM_001291949.2 NP_001278878.1 ADP-ribosylarginine hydrolase isoform 1
NM_001291950.2 NP_001278879.1 ADP-ribosylarginine hydrolase isoform 2
NM_001371092.1 NP_001358021.1 ADP-ribosylarginine hydrolase isoform 1
NM_001391992.1 NP_001378921.1 ADP-ribosylarginine hydrolase isoform 1

ADPRH 蛋白结构

ADP_ribosyl_GH

ADP_ribosyl_GH: ADP-ribosylglycohydrolase (6 - 324)

  • 0
  • 100
  • 200
  • 300
  • 357 a.a.
蛋白主名 其他名称

ADP-ribosylarginine hydrolase

ADP-ribose-L-arginine cleaving enzyme

重组 ADPRH 蛋白

目录号 产品名 蛋白编号 纯度
HY-P7462 ADPRH/ARH1 Protein, Human (His) P54922 (M1-L357) ≥95%

关联疾病

疾病名称 别名
Tyrosinemia

Hypertyrosinemia

Tyrosinemias

Hereditary Tyrosinemia

Hypertyrosinaemia

Tyrosinaemia

Hereditary Hypertyrosinemia

Glycine N-Methyltransferase Deficiency

GNMT DEFICIENCY

Hypermethioninemia Due To Glycine N-Methyltransferase Deficiency

Hypermethioninemia Due To Gnmt Deficiency

Hypermethioninemia

Hepatic Methionine Adenosyltransferase Deficiency

Mucolipidosis Ii Alpha/Beta

I-Cell Disease

Mucolipidosis Type Ii

Mucolipidosis Ii

Icd

Inclusion Cell Disease

Inclusion-Cell Disease

I Cell Disease

Mucolipidosis 2

MLII

Ml Ii

Ml Ii Alpha/Beta

Gnpta

Leroy Disease

Ml 2

Ml Disorder Type 2

N-Acetylglucosamine 1phosphotransferase Deficiency

Mucolipidosis Type Ii Alpha/Beta

N-Acetylglucosamine 1-Phosphotransferase Deficiency

Deficiency Of N-Acetylglucosamine-1-Phosphotransferase

Mucolipidosis, Type Ii, Alpha/Beta

Ml2

Type Ii Mucolipidosis

Sphingolipidosis

Sphingolipidoses

Arthrogryposis, Renal Dysfunction, And Cholestasis 1

Arc Syndrome

ARCS1

Arthrogryposis Renal Dysfunction Cholestasis Syndrome

Arthrogryposis-Renal Dysfunction-Cholestasis Syndrome

Arcs

Arthrogryposis, Renal Dysfunction And Cholestasis Syndrome

Arthrogryposis, Renal Dysfunction, And Cholestasis

Arthrogryposis-Renal Dysfunction-Cholestasis

Arthrogryposis - Renal Dysfunction - Cholestasis

Arthrogryposis Multiplex Congenita, Renal Dysfunction, And Cholestasis

Arthrogryposis, Renal Dysfunction And Cholestasis Syndrome 1

Arthrogryposis Renal Dysfunction And Cholestasis 1

Arthrogryposis With Renal Dysfunction And Cholestasis Syndrome

Arthrogryposis, Renal Dysfunction, Cholestasis, Type 1

Kidney Failure

Renal Insufficiency

Stuttering

Stammering

Familial Persistent Stuttering

Stuttering, Familial Persistent 1

Leukodystrophy

Leukodystrophies

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 ADPRH RGD RGD:2052
Bos taurus ADPRH VGNC VGNC:25690
Mus musculus ADPRH MGD MGI:1098234
Macaca mulatta ADPRH VGNC VGNC:110386
Canis familiaris ADPRH VGNC VGNC:37670
Others ADPRH NCBI