1. Gene
  2. AK9 - adenylate kinase 9 Gene

AK9 - adenylate kinase 9 Gene

中文名称:腺苷酸激酶 9

种属: Homo sapiens

同用名: AK 9; AKD1; AKD2; C6orf199; C6orf224; dJ70A9.1

基因 ID: 221264 | 基因类型: protein coding

关于 AK9

Cytogenetic location: 6q21 Genomic coordinates (GRCh38): 6:109,492,855-109,691,202 (from NCBI)

This gene has 12 transcripts (splice variants), 184 orthologues, 9 paralogues and is associated with 1 phenotype. Broad expression in testis (RPKM 4.3), thyroid (RPKM 0.9) and 23 other tissues.

功能概要

该基因编码的蛋白质催化核苷的相互转化,同时具有核苷单磷酸和二磷酸激酶活性。编码的蛋白质使用这些相互转换来维持核苷稳态。[RefSeq 提供,2016 年 7 月]

The protein encoded by this gene catalyzes the interconversion of nucleosides, possessing both nucleoside monophosphate and diphosphate kinase activities. The encoded protein uses these interconversions to maintain nucleoside homeostasis. [provided by RefSeq, Jul 2016]

AK9 基因产物(4)

mRNA Protein Name
NM_001145128.3 NP_001138600.2 adenylate kinase 9 isoform 1
NM_001329602.2 NP_001316531.1 adenylate kinase 9 isoform 2
NM_001329603.2 NP_001316532.1 adenylate kinase 9 isoform 3
NM_145025.5 NP_659462.1 adenylate kinase 9 isoform 2
基因本体论
  • 分子功能
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables nucleoside diphosphate kinase activity IDA
IDA: 通过直接分析推断
23416111 GOA
enables nucleoside monophosphate kinase activity IDA
IDA: 通过直接分析推断
23416111 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
23416111 GOA
located in nucleus IDA
IDA: 通过直接分析推断
23416111 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

AK9 蛋白结构

ADK

ADK: Adenylate kinase (35 - 246)

YHS

YHS: YHS domain (948 - 983)

ADK

ADK: Adenylate kinase (1086 - 1184)

ADK

ADK: Adenylate kinase (1416 - 1576)

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  • 1911 a.a.
蛋白主名 其他名称

adenylate kinase 9

adenylate kinase domain containing 1

关联疾病

疾病名称 别名
Postsynaptic Congenital Myasthenic Syndromes

Congenital Myasthenic Syndromes, Postsynaptic

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

Congenital Myasthenic Syndrome

Congenital Myasthenia

Congenital Myasthenic Syndromes

Cms

Myasthenic Syndromes, Congenital

Myasthenic Syndromes Congenital

Myasthenic Syndrome, Congenital

Congenital Myasthenic Syndrome Ib

Congenital And Developmental Myasthenia

Developmental Myasthenia

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
Macaca mulatta AK9 VGNC VGNC:81017
Rattus norvegicus AK9 RGD RGD:1559879
Mus musculus AK9 MGD MGI:2685080
Bos taurus AK9 VGNC VGNC:25778
Canis familiaris AK9 VGNC VGNC:37750
Others AK9 NCBI