1. Gene
  2. ART4 - ADP-ribosyltransferase 4 (inactive) (Dombrock blood group) Gene

ART4 - ADP-ribosyltransferase 4 (inactive) (Dombrock blood group) Gene

中文名称:ADP-核糖基转移酶 4 (无活性) (Dombrock 血型)

种属: Homo sapiens

同用名: DO; DOK1; ARTC4; CD297; DO/ART4

基因 ID: 420 | 基因类型: protein coding

关于 ART4

Cytogenetic location: 12p12.3 Genomic coordinates (GRCh38): 12:14,825,569-14,843,526 (from NCBI)

This gene has 4 transcripts (splice variants), 589 orthologues, 3 paralogues and is associated with 1 phenotype. Biased expression in liver (RPKM 8.6), spleen (RPKM 7.9) and 11 other tissues.

功能概要

该基因编码的蛋白质包含单-ADP-核糖基化 (ART) 基序。它是 ADP-核糖基转移酶基因家族的成员,但酶活性尚未通过实验证明。 Dombrock 血型系统的抗原位于基因产物上,该基因产物是锚定在红细胞膜上的糖基磷脂酰肌醇。已知等位基因变异,其中一些会导致不良输血反应。[RefSeq 提供,2008 年 7 月]

This gene encodes a protein that contains a mono-ADP-ribosylation (ART) motif. It is a member of the ADP-ribosyltransferase gene family but enzymatic activity has not been demonstrated experimentally. Antigens of the Dombrock blood group system are located on the gene product, which is glycosylphosphatidylinosotol-anchored to the erythrocyte membrane. Allelic variants, some of which lead to adverse transfusion reactions, are known. [provided by RefSeq, Jul 2008]

ART4 基因产物(2)

mRNA Protein Name
NM_001354646.2 NP_001341575.1 ecto-ADP-ribosyltransferase 4 isoform 2 precursor
NM_021071.4 NP_066549.2 ecto-ADP-ribosyltransferase 4 isoform 1 precursor

ART4 蛋白结构

ART

ART: NAD:arginine ADP-ribosyltransferase (56 - 276)

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

ecto-ADP-ribosyltransferase 4

ADP-ribosyltransferase 4 (DO blood group)

关联疾病

疾病名称 别名
Blood Group, Dombrock System

DO

Dombrock Blood Group System

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
Canis familiaris ART4 VGNC VGNC:48874
Bos taurus ART4 VGNC VGNC:49134
Rattus norvegicus ART4 RGD RGD:1306456
Macaca mulatta ART4 VGNC VGNC:108323
Felis catus ART4 VGNC VGNC:83503
Mus musculus ART4 MGD MGI:1202710
Macaca fascicularis ART4 NCBI NCBI:102134161
Others ART4 NCBI