1. Gene
  2. AK7 - adenylate kinase 7 Gene

AK7 - adenylate kinase 7 Gene

中文名称:腺苷酸激酶 7

种属: Homo sapiens

同用名: AK 7; FAP75; CFAP75; SPGF27

基因 ID: 122481 | 基因类型: protein coding

关于 AK7

Cytogenetic location: 14q32.2 Genomic coordinates (GRCh38): 14:96,392,128-96,489,427 (from NCBI)

This gene has 5 transcripts (splice variants), 259 orthologues, 9 paralogues and is associated with 2 phenotypes. Broad expression in testis (RPKM 4.1), lung (RPKM 2.2) and 15 other tissues.

功能概要

该基因编码腺苷酸激酶家族的一个成员。编码的酶是一种磷酸转移酶,可催化腺嘌呤核苷酸的可逆磷酸化。这种酶在细胞的能量稳态中发挥作用。可变剪接导致多个转录本变体。小鼠基因突变与原发性纤毛运动障碍有关。[RefSeq 提供,2017 年 4 月]

This gene encodes a member of the adenylate kinase family of enzymes. The encoded Enzyme is a phosphotransferase that catalyzes the reversible phosphorylation of adenine nucleotides. This Enzyme plays a role in energy homeostasis of the cell. Alternative splicing results in multiple transcript variants. Mutations in the mouse gene are associated with primary ciliary dyskinesia. [provided by RefSeq, Apr 2017]

AK7 基因产物(5)

mRNA Protein Name
NM_001350888.2 NP_001337817.1 adenylate kinase 7 isoform 2
NM_001350890.2 NP_001337819.1 adenylate kinase 7 isoform 3
NM_001350891.2 NP_001337820.1 adenylate kinase 7 isoform 4
NM_001350892.2 NP_001337821.1 adenylate kinase 7 isoform 5
NM_152327.5 NP_689540.2 adenylate kinase 7 isoform 1

AK7 蛋白结构

AAA_17

AAA_17: AAA domain (369 - 461)

Dpy-30

Dpy-30: Dpy-30 motif (679 - 720)

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

adenylate kinase 7

ATP-AMP transphosphorylase 7

关联疾病

疾病名称 别名
Spermatogenic Failure 27

SPGF27

Non-Syndromic Male Infertility Due To Sperm Motility Disorder

Non-Syndromic Male Infertility Due Asthenozoospermia

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

Infertility
Spermatogenic Failure

Azoospermia

Spgf

Spermatogenic Failure, Susceptibility To

Absent Sperm

Aspermatogenesis

Infertility Due To Azoospermia

Hypospermatogenesis

Azoospermatism

Reticular Dysgenesis

Severe Combined Immunodeficiency With Leukopenia

De Vaal Disease

Congenital Aleukia

Aleukocytosis

Hematopoietic Hypoplasia, Generalized

Reticular Dysgenesia

Devaal Disease

Rd

Ak2 Deficiency

Congenital Aleukocytosis

Generalized Hematopoietic Hypoplasia

Scid With Leukopenia

RDYS

Bardet-Biedl Syndrome 1

BBS1

Bardet-Biedl Syndrome 1, Modifier Of

Bardet-Biedl Syndrome

BBS

Bardet-Biedl Syndrome, Type 1

Laurence-Moon-Bardet-Biedl 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 AK7 VGNC VGNC:25776
Mus musculus AK7 MGD MGI:1926051
Rattus norvegicus AK7 RGD RGD:1309600
Canis familiaris AK7 VGNC VGNC:37748
Felis catus AK7 VGNC VGNC:59708
Macaca mulatta AK7 VGNC VGNC:69643