2. Gene
  3. AK7 - adenylate kinase 7 Gene

AK7 - adenylate kinase 7 Gene

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

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

相关产品

Pre-clinical Phase
生物活性分子 (2)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-16691 AK-7 Inhibitor 99.93% 否
HY-RS00509 AK7 Human Pre-designed siRNA Set A Pre-designed Sets / 否

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
Others AK7 NCBI
嗨！很高兴为您提供帮助！

尊敬的 MCE 客户您好，
请您选择所在区域，我们将转接对应客服为您服务！

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z

热 A B C F G H J L N Q S T X Y Z