2. Gene
  3. AKAP12 - A-kinase anchoring protein 12 Gene

AKAP12 - A-kinase anchoring protein 12 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：A-激酶锚定蛋白 12

种属: Homo sapiens

同用名: SSeCKS; AKAP250

基因 ID: 9590 | 基因类型: protein coding

关于 AKAP12

Cytogenetic location: 6q25.1 Genomic coordinates (GRCh38): 6:151,239,967-151,358,559 (from NCBI)

This gene has 5 transcripts (splice variants) and 219 orthologues. Broad expression in testis (RPKM 48.0), fat (RPKM 27.1) and 20 other tissues.

功能概要

激酶锚定蛋白 (AKAP) 是一组结构多样的蛋白质，它们具有与蛋白激酶 A (PKA) 的调节亚基结合并将全酶限制在细胞内离散位置的共同功能。该基因编码 AKAP 家族的一个成员。编码的蛋白质在内皮细胞、培养的成纤维细胞和骨肉瘤细胞中表达。它与蛋白激酶 A 和 C 以及磷酸酶结合，并作为信号转导中的支架蛋白。这种蛋白质和 RII PKA 在细胞外围共定位。这种蛋白质是一种细胞生长相关的蛋白质。重症肌无力患者可以产生针对这种蛋白质的抗体。该基因的可变剪接导致编码不同亚型的两个转录变体。[RefSeq 提供，2008 年 7 月]

The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein is expressed in endothelial cells, cultured fibroblasts, and osteosarcoma cells. It associates with protein kinases A and C and Phosphatase, and serves as a scaffold protein in signal transduction. This protein and RII PKA colocalize at the cell periphery. This protein is a cell growth-related protein. Antibodies to this protein can be produced by patients with myasthenia gravis. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

AKAP12 基因产物(3)

mRNA Protein Name
NM_001370346.1 NP_001357275.1 A-kinase anchor protein 12 isoform 3
NM_005100.4 NP_005091.2 A-kinase anchor protein 12 isoform 1
NM_144497.2 NP_653080.1 A-kinase anchor protein 12 isoform 2

AKAP12 蛋白结构

WSK

WSK: WSK motif (604 - 633)

WSK

WSK: WSK motif (753 - 782)

WSK

WSK: WSK motif (799 - 826)

RII_binding_1

RII_binding_1: RII binding domain (1541 - 1558)

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  • 1782 a.a.
蛋白主名 其他名称

A-kinase anchor protein 12

A kinase (PRKA) anchor protein 12

关联疾病

疾病名称 别名
Myasthenia Gravis

MG

Acquired Myasthenia

Autoimmune Myasthenia Gravis

Erb-Goldflam Disease

Mg - [Myasthenia Gravis]

Myasthenia Gravis Nos

Myasthenia
Myasthenic Syndrome, Congenital, 15

Congenital Myasthenic Syndrome 15

CMS15

Myasthenic Syndrome, Congenital, Without Tubular Aggregates

Cmswta

Myasthenic Syndrome, Congenital, 15, Without Tubular Aggregates

Congenital Myasthenic Syndrome 15 Without Tubular Aggregates

Myasthenic Syndrome, Congenital, Type 15, Without Tubular Aggregates
Myasthenic Syndrome, Congenital, 9, Associated With Acetylcholine Receptor Deficiency

Congenital Myasthenic Syndrome 9

CMS9

Congenital Myasthenic Syndrome 9, Associated With Acetylcholine Receptor Deficiency

Myasthenic Syndrome, Congenital, Type 9, Associated With Acetylcholine Receptor Deficiency
Amyotrophic Lateral Sclerosis 1

Amyotrophic Lateral Sclerosis

ALS

Lou Gehrig Disease

Amyotrophic Lateral Sclerosis Type 1

Charcot Disease

ALS1

Amyotrophic Lateral Sclerosis, Susceptibility To

Fals

Lou Gehrig'S Disease

Mnd

Motor Neuron Disease

Familial Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis 1, Familial

Amyotrophic Lateral Sclerosis 1, Autosomal Dominant

Motor Neuron Disease, Bulbar

Motor Neurone Disease

Amyotrophic Lateral Sclerosis With Dementia

Dementia With Amyotrophic Lateral Sclerosis

Motor Neuron Disease, Amyotrophic Lateral Sclerosis

Sclerosis, Lateral, Amyotrophic

Sclerosis, Lateral, Amyotrophic, Type 1

Amyotrophic Sclerosis

Als - [Amyotrophic Lateral Sclerosis]

Wasting Palsy

Amyotrophic Paralysis

Amyotrophy Lateral Sclerosis

Wasting Paralysis

Spinal Progressive Amyotrophy

Progressive Atrophic Paralysis
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS00515 AKAP12 Human Pre-designed siRNA Set A / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus AKAP12 RGD RGD:70988
Macaca mulatta AKAP12 VGNC VGNC:69766
Bos taurus AKAP12 VGNC VGNC:25782
Canis familiaris AKAP12 VGNC VGNC:37754
Mus musculus AKAP12 MGD MGI:1932576
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