1. Gene
  2. AKAP4 - A-kinase anchoring protein 4 Gene

AKAP4 - A-kinase anchoring protein 4 Gene

中文名称:A-激酶锚定蛋白 4

种属: Homo sapiens

同用名: HI; p82; CT99; FSC1; PRKA4; AKAP-4; AKAP82; AKAP 82; hAKAP82

基因 ID: 8852 | 基因类型: protein coding

关于 AKAP4

Cytogenetic location: Xp11.22 Genomic coordinates (GRCh38): X:50,190,777-50,201,007 (from NCBI)

This gene has 6 transcripts (splice variants), 127 orthologues and 3 paralogues. Restricted expression toward testis (RPKM 101.7).

功能概要

A 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。编码的蛋白质定位于精子鞭毛,可能参与精子活力的调节。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 localized to the sperm flagellum and may be involved in the regulation of sperm motility. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

AKAP4 基因产物(2)

mRNA Protein Name
NM_003886.3 NP_003877.2 A-kinase anchor protein 4 isoform 1
NM_139289.2 NP_647450.1 A-kinase anchor protein 4 isoform 2
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
27913189 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in flagellated sperm motility IMP
IMP: 通过突变表型推断
9822690 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in motile cilium IDA
IDA: 通过直接分析推断
9822690 GOA
located in sperm end piece IDA
IDA: 通过直接分析推断
30745215 GOA
is active in sperm fibrous sheath IDA
IDA: 通过直接分析推断
9822690 GOA
is active in sperm flagellum IDA
IDA: 通过直接分析推断
34415320 GOA
located in sperm head-tail coupling apparatus IDA
IDA: 通过直接分析推断
30745215 GOA
located in sperm midpiece IDA
IDA: 通过直接分析推断
30745215 GOA
located in sperm principal piece IDA
IDA: 通过直接分析推断
30137358 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

AKAP4 蛋白结构

RII_binding_1

RII_binding_1: RII binding domain (217 - 233)

AKAP_110

AKAP_110: A-kinase anchor protein 110 kDa (AKAP 110) (253 - 854)

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

A-kinase anchor protein 4

A kinase (PRKA) anchor protein 4

关联疾病

疾病名称 别名
Retinitis Pigmentosa 70

RP70

Retinitis Pigmentosa, Type 70

Spermatogenic Failure 9

Male Infertility Due To Globozoospermia

SPGF9

Male Infertility Due To Round-Headed Spermatozoa

Globozoospermia, Complete

Globozoospermia, Total

Globozoospermia

Globozoospermia Syndrome

Round-Headed Sperm Syndrome

Globozoospermia Complete

Globozoospermia Total

Spermatogenic Failure

Azoospermia

Spgf

Spermatogenic Failure, Susceptibility To

Absent Sperm

Aspermatogenesis

Infertility Due To Azoospermia

Hypospermatogenesis

Azoospermatism

Oligoasthenoteratozoospermia

Oat

Oligoasthenoteratospermia

Vas Deferens, Congenital Bilateral Aplasia Of

Congenital Bilateral Absence Of Vas Deferens

CBAVD

Cavd

Congenital Bilateral Aplasia Of Vas Deferens

Congenital Bilateral Absence Of The Vas Deferens

Congenital Bilateral Agenesis Of Vas Deferens

Absence Of Vas Deferens

Absent Vasa

Congenital Absence Of Vas Deferens

Congenital Aplasia Of Vas Deferens

Absent Vas Deferens

Vas Deferens, Congenital Bilateral Absence

Pelvic Varices

Varix Of Pelvis

Pelvic Varicose Vein

Primary Ciliary Dyskinesia

Immotile Cilia Syndrome

Kartagener Syndrome

Dextrocardia Bronchiectasis And Sinusitis

Pcd

Ciliary Motility Disorders

Ciliary Motility Disorder

Immotile Ciliary Syndrome

Ciliary Dyskinesia Primary

Ics

Polynesian Bronchiectasis

Dextrocardia-Bronchiectasis-Sinusitis Syndrome

Immotile Cilia Syndrome, Kartagener Type

Primary Ciliary Dyskinesia And Situs Inversus

Primary Ciliary Dyskinesia, Kartagener Type

Siewert Syndrome

Dyskinesia, Ciliary, Primary

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 AKAP4 RGD RGD:620828
Mus musculus AKAP4 MGD MGI:102794
Canis familiaris AKAP4 VGNC VGNC:37757
Bos taurus AKAP4 VGNC VGNC:25785
Felis catus AKAP4 VGNC VGNC:59714
Macaca mulatta AKAP4 VGNC VGNC:69770