1. Gene
  2. ALPK3 - alpha kinase 3 Gene

ALPK3 - alpha kinase 3 Gene

中文名称:α激酶 3

种属: Homo sapiens

同用名: MAK; CMH27; MIDORI

基因 ID: 57538 | 基因类型: protein coding

关于 ALPK3

Cytogenetic location: 15q25.3 Genomic coordinates (GRCh38): 15:84,817,356-84,873,479 (from NCBI)

This gene has 2 transcripts (splice variants), 296 orthologues, 9 paralogues and is associated with 2 phenotypes. Biased expression in heart (RPKM 20.7), fat (RPKM 9.4) and 9 other tissues.

功能概要

预测启用 ATP 绑定活动;蛋白丝氨酸激酶活性;和蛋白丝氨酸/苏氨酸激酶活性。预计参与心肌细胞发育。预计活跃于核心。与肥厚性心肌病有关。 [由基因组资源联盟提供,2022 年 4 月]

Predicted to enable ATP binding activity; protein serine kinase activity; and protein serine/threonine kinase activity. Predicted to be involved in cardiac muscle cell development. Predicted to be active in nucleus. Implicated in hypertrophic cardiomyopathy. [provided by Alliance of Genome Resources, Apr 2022]

ALPK3 基因产物(1)

mRNA Protein Name
NM_020778.5 NP_065829.4 alpha-protein kinase 3

ALPK3 蛋白结构

I-set

I-set: Immunoglobulin I-set domain (279 - 371)

Ig_2

Ig_2: Immunoglobulin domain (1490 - 1560)

Alpha_kinase

Alpha_kinase: Alpha-kinase family (1622 - 1819)

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  • 1907 a.a.
蛋白主名 其他名称

alpha-protein kinase 3

muscle alpha-kinase

关联疾病

疾病名称 别名
Cardiomyopathy, Familial Hypertrophic 27

CMH27

Cardiomyopathy, Hypertrophic, Familial, Type 27

Hypertrophic Cardiomyopathy

Hypertrophic Obstructive Cardiomyopathy

Cardiomyopathy, Hypertrophic

Cardiomyopathy Hypertrophic Obstructive

Cardiomyopathy, Hypertrophic, Familial

Idiopathic Myocardial Hypertrophy

Idiopathic Hypertrophic Cardiomyopathy

Obstructive Idiopathic Hypertrophic Cardiomyopathy

Obstructive Cardiomyopathy

Idiopathic Hypertrophic Subaortic Stenosis

Muscular Subaortic Stenosis

Hypertrophic Obstructive Subaortic Stenosis

Dilated Cardiomyopathy

Familial Dilated Cardiomyopathy

Primary Dilated Cardiomyopathy

Idiopathic Dilated Cardiomyopathy

Congestive Cardiomyopathy

Idiopathic Dilation Cardiomyopathy

Primary Familial Dilated Cardiomyopathy

Cardiomyopathy, Dilated

DCM

Cardiomyopathy, Familial Dilated

Dilated Cardiomyopathy, Familial

Hypokinetic Dilated Cardiomyopathy, Familial

Familial Idiopathic Cardiomyopathy

Fdc

Cardiomyopathy, Familial Idiopathic

Idiopathic Cardiomegaly

Dilated Congestive Cardiomyopathy

Chronic Dilated Cardiomyopathy

Ccm - [Congestive Cardiomyopathy]

Cocm - [Congestive Cardiomyopathy]

Dcm - [Dilated Cardiomyopathy]

Dilated-Hypokinetic Cardiomyopathy

Congestive Idiopathic Cardiomyopathy

Primary Idiopathic Dilated Cardiomyopathy

Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus

Wolcott-Rallison Syndrome

Med-Iddm Syndrome

Iddm-Med Syndrome

Wolcott Rallison Syndrome

WRS

Epiphyseal Dysplasia Multiple With Early-Onset Diabetes Mellitus

Early-Onset Diabetes Mellitus With Multiple Epiphyseal Dysplasia

Multiple Epiphyseal Dysplasia With Early-Onset Diabetes Mellitus

Left Ventricular Noncompaction

Noncompaction Cardiomyopathy

Left Ventricular Hypertrabeculation

Lvnc

Spongy Myocardium

Isolated Noncompaction Of The Ventricular Myocardium

Left Ventricular Myocardial Noncompaction Cardiomyopathy

Fetal Myocardium

Honeycomb Myocardium

Hypertrabeculation Syndrome

Left Ventricular Non-Compaction

Lvht

Non-Compaction Of The Left Ventricular Myocardium

Ventricular Noncompaction, Left

Non-Compaction Cardiomyopathy

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 ALPK3 VGNC VGNC:69626
Rattus norvegicus ALPK3 RGD RGD:1309860
Felis catus ALPK3 VGNC VGNC:104356
Bos taurus ALPK3 VGNC VGNC:25849
Canis familiaris ALPK3 VGNC VGNC:37817
Mus musculus ALPK3 MGD MGI:2151224