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  2. AKAP1 - A-kinase anchoring protein 1 Gene

AKAP1 - A-kinase anchoring protein 1 Gene

中文名称:A-激酶锚定蛋白 1

种属: Homo sapiens

同用名: AKAP; PRKA1; AKAP84; TDRD17; AKAP121; AKAP149; D-AKAP1; PPP1R43; SAKAP84

基因 ID: 8165 | 基因类型: protein coding

关于 AKAP1

Cytogenetic location: 17q22 Genomic coordinates (GRCh38): 17:57,085,246-57,121,344 (from NCBI)

This gene has 19 transcripts (splice variants) and 229 orthologues. Broad expression in testis (RPKM 41.4), heart (RPKM 27.0) and 24 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。编码的蛋白质与 PKA 的 I 型和 II 型调节亚基结合,并将它们固定在线粒体上。据推测,该蛋白质参与 cAMP 依赖性信号转导通路,并将 RNA 引导至特定的细胞区室。[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 binds to type I and type II regulatory subunits of PKA and anchors them to the mitochondrion. This protein is speculated to be involved in the cAMP-dependent signal transduction pathway and in directing RNA to a specific cellular compartment. [provided by RefSeq, Jul 2008]

AKAP1 基因产物(8)

mRNA Protein Name
NM_001242902.1 NP_001229831.1 A-kinase anchor protein 1, mitochondrial precursor
NM_001242903.1 NP_001229832.1 A-kinase anchor protein 1, mitochondrial precursor
NM_001370423.1 NP_001357352.1 A-kinase anchor protein 1, mitochondrial precursor
NM_001370424.1 NP_001357353.1 A-kinase anchor protein 1, mitochondrial precursor
NM_001370425.1 NP_001357354.1 A-kinase anchor protein 1, mitochondrial precursor
NM_001370426.1 NP_001357355.1 A-kinase anchor protein 1, mitochondrial precursor
NM_001370427.1 NP_001357356.1 A-kinase anchor protein 1, mitochondrial precursor
NM_003488.4 NP_003479.1 A-kinase anchor protein 1, mitochondrial precursor

AKAP1 蛋白结构

KH_1

KH_1: KH domain (611 - 671)

TUDOR

TUDOR: Tudor domain (705 - 826)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 903 a.a.
蛋白主名 其他名称

A-kinase anchor protein 1, mitochondrial

A kinase (PRKA) anchor protein 1

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

Fibrolamellar Carcinoma

Fibrolamellar Hepatocellular Carcinoma

Fhcc

Fibrolamellar Hepatocarcinoma

Hepatocellular Carcinoma, Fibrolamellar

Oncocytic Hepatocellular Tumor

Eosinophilic Glassy Cell Hepatoma

Eosinophilic Hepatocellular Carcinoma With Lamellar Fibrosis

Fl-Hcc

Fibrolamellar Oncocytic Hepatoma

Hepatocellular Carcinoma With Increased Stromal Fibrosis

Polygonal Cell Hepatocellular Carcinoma With Fibrous Stroma

Carney Complex Variant

Carney Complex

Carney Syndrome

Carney Complex, Type 1

Lamb Syndrome

Name Syndrome

Myxoma-Spotty Pigmentation-Endocrine Overactivity Syndrome

Carney Complex - Trismus - Pseudocamptodactyly Syndrome

Carney Complex, Type 2

Car

Cnc1

Carney Myxoma-Endocrine Complex

Myxoma - Spotty Pigmentation - Endocrine Overactivity

Myxoma, Spotty Pigmentation, And Endocrine Overactivity

Lamb - Lentigines, Atrial Myxoma, Mucocutaneous Myoma, Blue Nevus Syndrome

Name - Nevi, Atrial Myxoma, Skin Myxoma, Ephelides Syndrome

Carney Complex-Trismus-Pseudocamptodactyly Syndrome

CACOV

Cystic Fibrosis

Mucoviscidosis

CF

Pseudomonas Aeruginosa, Susceptibility To Chronic Infection By, In Cystic Fibrosis

Pseudomonas Aeruginosa Chronic Infection By, In Cystic Fibrosis

Cystic Fibrosis Lung Disease, Modifier Of

Cystic Fibrosis Of Pancreas

Fibrocystic Disease Of Pancreas

Cf - [Cystic Fibrosis]

Cystic Fibrosis Nos

Fibrocystic Disease

Fibrocystic Disease Of The Pancreas

Mucoviscidosis Of Pancreas

Nonproliferative Fibrocystic Disease

Pancreatic Cystic Fibrosis

Long Qt Syndrome

Romano-Ward Syndrome

Long Q-T Syndrome

Lqt

Qt Syndrome, Long

Congenital Long Qt Syndrome

Familial Long Qt Syndrome

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
Bos taurus AKAP1 VGNC VGNC:25779
Rattus norvegicus AKAP1 RGD RGD:620826
Macaca mulatta AKAP1 VGNC VGNC:69763
Felis catus AKAP1 VGNC VGNC:59710
Mus musculus AKAP1 MGD MGI:104729
Canis familiaris AKAP1 VGNC VGNC:37751