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  2. AKAP7 - A-kinase anchoring protein 7 Gene

AKAP7 - A-kinase anchoring protein 7 Gene

中文名称:A-激酶锚定蛋白 7

种属: Homo sapiens

同用名: AKAP15; AKAP18

基因 ID: 9465 | 基因类型: protein coding

关于 AKAP7

Cytogenetic location: 6q23.2 Genomic coordinates (GRCh38): 6:131,125,627-131,283,532 (from NCBI)

This gene has 10 transcripts (splice variants), 192 orthologues and 1 paralogue. Broad expression in adrenal (RPKM 12.1), duodenum (RPKM 4.2) and 23 other tissues.

功能概要

该基因编码 A 激酶锚定蛋白 (AKAP) 家族的成员,这是一组功能相关的蛋白质,可与 cAMP 依赖性蛋白激酶 A (PKA) 的调节亚基 (RII) 结合,并将该酶靶向特定的亚细胞区室. AKAP 具有共同的 RII 结合结构域,但包含不同的靶向基序,负责将 PKA 引导至不同的细胞内位置。已经描述了编码不同亚型的三种可变剪接转录本变体。[RefSeq 提供,2011 年 4 月]

This gene encodes a member of the A-kinase anchoring protein (AKAP) family, a group of functionally related proteins that bind to a regulatory subunit (RII) of cAMP-dependent protein kinase A (PKA) and target the Enzyme to specific subcellular compartments. AKAPs have a common RII-binding domain, but contain different targeting motifs responsible for directing PKA to distinct intracellular locations. Three alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Apr 2011]

AKAP7 基因产物(9)

mRNA Protein Name
NM_001376570.1 NP_001363499.1 A-kinase anchoring protein 7 isoform 4
NM_001387860.1 NP_001374789.1 A-kinase anchoring protein 7 isoform 5
NM_001387861.1 NP_001374790.1 A-kinase anchoring protein 7 isoform 6
NM_001387862.1 NP_001374791.1 A-kinase anchoring protein 7 isoform 7
NM_001387863.1 NP_001374792.1 A-kinase anchoring protein 7 isoform 8
NM_001387864.1 NP_001374793.1 A-kinase anchoring protein 7 isoform 9
NM_004842.4 NP_004833.1 A-kinase anchoring protein 7 isoform alpha
NM_016377.4 NP_057461.2 A-kinase anchoring protein 7 isoform gamma
NM_138633.3 NP_619539.1 A-kinase anchoring protein 7 isoform beta

AKAP7 蛋白结构

AKAP7_NLS

AKAP7_NLS: AKAP7 2'5' RNA ligase-like domain (85 - 281)

AKAP7_RIRII_bdg

AKAP7_RIRII_bdg: PKA-RI-RII subunit binding domain of A-kinase anchor protein (289 - 348)

  • 0
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  • 300
  • 348 a.a.
蛋白主名 其他名称

A-kinase anchoring protein 7

A kinase (PRKA) anchor protein 7

关联疾病

疾病名称 别名
Familial Febrile Seizures

Familial Febrile Convulsions

Feb

Febrile Seizures, Familial

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
Rattus norvegicus AKAP7 RGD RGD:1303071
Canis familiaris AKAP7 VGNC VGNC:37760
Bos taurus AKAP7 VGNC VGNC:25788
Macaca mulatta AKAP7 VGNC VGNC:69772
Mus musculus AKAP7 MGD MGI:1859150
Felis catus AKAP7 VGNC VGNC:59717