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  2. AKAP10 - A-kinase anchoring protein 10 Gene

AKAP10 - A-kinase anchoring protein 10 Gene

中文名称:A-激酶锚定蛋白 10

种属: Homo sapiens

同用名: PRKA10; AKAP-10; D-AKAP2; D-AKAP-2

基因 ID: 11216 | 基因类型: protein coding

关于 AKAP10

Cytogenetic location: 17p11.2 Genomic coordinates (GRCh38): 17:19,904,302-19,977,828 (from NCBI)

This gene has 11 transcripts (splice variants) and 204 orthologues. Ubiquitous expression in thyroid (RPKM 7.7), testis (RPKM 7.4) and 25 other tissues.

功能概要

该基因编码 A 激酶锚定蛋白家族的一个成员。 A-激酶锚定蛋白与蛋白激酶 A (PKA) 的调节亚基结合,并将全酶限制在细胞内的离散位置。编码的蛋白质定位于线粒体,并与 PKA 的 I 型和 II 型调节亚基相互作用。该基因的多态性可能与心律失常和心源性猝死的风险增加有关。[RefSeq 提供,2012 年 5 月]

This gene encodes a member of the A-kinase anchor protein family. A-kinase anchor proteins bind to the regulatory subunits of protein kinase A (PKA) and confine the holoenzyme to discrete locations within the cell. The encoded protein is localized to mitochondria and interacts with both the type I and type II regulatory subunits of PKA. Polymorphisms in this gene may be associated with increased risk of arrhythmias and sudden cardiac death. [provided by RefSeq, May 2012]

AKAP10 基因产物(2)

mRNA Protein Name
NM_001330152.2 NP_001317081.1 A-kinase anchor protein 10, mitochondrial isoform 2
NM_007202.4 NP_009133.2 A-kinase anchor protein 10, mitochondrial isoform 1 precursor

AKAP10 蛋白结构

RGS

RGS: Regulator of G protein signaling domain (126 - 367)

RGS

RGS: Regulator of G protein signaling domain (385 - 504)

  • 0
  • 200
  • 400
  • 600
  • 662 a.a.
蛋白主名 其他名称

A-kinase anchor protein 10, mitochondrial

A kinase (PRKA) anchor protein 10

关联疾病

疾病名称 别名
Long Qt Syndrome 1

Romano-Ward Syndrome

LQT1

Ward-Romano Syndrome

Rws

Ventricular Fibrillation With Prolonged Qt Interval

Wrs

Long Qt Syndrome 1, Acquired, Susceptibility To

Long Qt Syndrome 1, Acquired

Romano-Ward Long Qt Syndrome

Long Qt Syndrome Type 1

Long Qt Syndrome-1

Acquired Susceptibility To Long Qt Syndrome 1

Qt Syndrome, Long, Type 1

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 AKAP10 VGNC VGNC:37752
Felis catus AKAP10 VGNC VGNC:59711
Rattus norvegicus AKAP10 RGD RGD:1308869
Macaca mulatta AKAP10 VGNC VGNC:69764
Bos taurus AKAP10 VGNC VGNC:25780
Mus musculus AKAP10 MGD MGI:1890218