1. Gene
  2. AK3 - adenylate kinase 3 Gene

AK3 - adenylate kinase 3 Gene

中文名称:腺苷酸激酶 3

种属: Homo sapiens

同用名: AK6; FIX; AK3L1; AKL3L; AKL3L1

基因 ID: 50808 | 基因类型: protein coding

关于 AK3

Cytogenetic location: 9p24.1 Genomic coordinates (GRCh38): 9:4,709,556-4,742,043 (from NCBI)

This gene has 4 transcripts (splice variants), 230 orthologues and 9 paralogues. Ubiquitous expression in liver (RPKM 32.7), fat (RPKM 26.9) and 25 other tissues.

功能概要

由该基因编码的蛋白质是在线粒体基质中发现的 GTP:ATP 磷酸转移酶。已发现该基因的几种转录变体编码几种不同的亚型。[RefSeq 提供,2010 年 12 月]

The protein encoded by this gene is a GTP:ATP phosphotransferase that is found in the mitochondrial matrix. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Dec 2010]

AK3 基因产物(5)

mRNA Protein Name
NM_001199852.2 NP_001186781.1 GTP:AMP phosphotransferase AK3, mitochondrial isoform b
NM_001199853.2 NP_001186782.1 GTP:AMP phosphotransferase AK3, mitochondrial isoform c
NM_001199855.2 NP_001186784.1 GTP:AMP phosphotransferase AK3, mitochondrial isoform c
NM_001199856.2 NP_001186785.1 GTP:AMP phosphotransferase AK3, mitochondrial isoform c
NM_016282.4 NP_057366.2 GTP:AMP phosphotransferase AK3, mitochondrial isoform a
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
NOT enables adenylate kinase activity IDA
IDA: 通过直接分析推断
11485571 GOA
enables nucleoside triphosphate adenylate kinase activity EXP
EXP: 通过实验结果推断
218813 GOA
enables nucleoside triphosphate adenylate kinase activity IDA
IDA: 通过直接分析推断
11485571 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
25416956 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in AMP metabolic process IDA
IDA: 通过直接分析推断
11485571 GOA
involved in GTP metabolic process IDA
IDA: 通过直接分析推断
11485571 GOA
involved in ITP metabolic process IDA
IDA: 通过直接分析推断
11485571 GOA
involved in UTP metabolic process IDA
IDA: 通过直接分析推断
11485571 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

AK3 蛋白结构

ADK

ADK: Adenylate kinase (12 - 191)

ADK_lid

ADK_lid: Adenylate kinase, active site lid (128 - 163)

  • 0
  • 100
  • 200
  • 227 a.a.
蛋白主名 其他名称

GTP:AMP phosphotransferase AK3, mitochondrial

GTP:AMP phosphotransferase, mitochondrial

重组 AK3 蛋白

目录号 产品名 蛋白编号 纯度
HY-P71645 AK3 Protein, Human (Myc, His) Q9UIJ7-1 (M1-P227) ≥95%

关联疾病

疾病名称 别名
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

Orofacial Cleft 8

OFC8

Cleft Lip With Or Without Cleft Palate, Nonsyndromic, 8

Non-Syndromic Cleft Lip/Palate 8

Non-Syndromic Cleft Lip With Or Without Cleft Palate 8

Orofacial Cleft, Type 8

Amyloidosis, Familial Visceral

Ostertag Type Amyloidosis

German Type Amyloidosis

Familial Renal Amyloidosis

Amyloidosis Viii

Amyloidosis, 3 Or More Types

Familial Visceral Amyloidosis

Familial Amyloid Nephropathy

Hereditary Amyloid Nephropathy

Amyloidosis, Familial Renal

Amyloidosis, Systemic Nonneuropathic

Amyloidosis Familial Visceral

Amyloidosis 8

Amyloidosis, Ostertag Type

Hereditary Amyloidosis With Primary Renal Involvement

Hereditary Renal Amyloidosis

Renal Amyloidosis

Amyloidosis, Renal

Systemic Nonneuropathic Amyloidosis

Amyloidosis Familial Renal

Amyloidosis Systemic Nonneuropathic

Hereditary Amyloidosis With Primary Renal Involement

AMYL8

Systemic Non-Neuropathic Amyloidosis

Amyloid Nephropathy

Schizophrenia 1

SCZD1

Schizophrenia Susceptibility Locus, Chromosome 5-Related

Schizophrenia 1 With Or Without An Affective Disorder

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 AK3 VGNC VGNC:25772
Mus musculus AK3 MGD MGI:1860835
Macaca mulatta AK3 VGNC VGNC:69623
Felis catus AK3 VGNC VGNC:102897
Rattus norvegicus AK3 RGD RGD:619885
Others AK3 NCBI