AK1 - adenylate kinase 1 Gene

中文名称：腺苷酸激酶 1

种属: Homo sapiens

同用名: HTL-S-58j

基因 ID: 203 | 基因类型: protein coding

关于 AK1

Cytogenetic location: 9q34.11 Genomic coordinates (GRCh38): 9:127,866,480-127,879,621 (from NCBI)

This gene has 6 transcripts (splice variants), 207 orthologues, 9 paralogues and is associated with 2 phenotypes. Ubiquitous expression in heart (RPKM 35.4), lung (RPKM 29.7) and 25 other tissues.

功能概要

该基因编码一种腺苷酸激酶，参与能量代谢和不同细胞内区室中细胞腺嘌呤核苷酸比率的稳态。该基因在骨骼肌、大脑和红细胞中高度表达。该基因的某些突变会导致酶功能不足，这与导致非球形红细胞溶血性贫血的罕见遗传病有关。该基因的可变剪接导致编码不同亚型的多个转录变体。该基因与上游 ST6GALNAC6 基因共享通读转录本。[RefSeq 提供，2022 年 1 月]

This gene encodes an adenylate kinase Enzyme involved in energy metabolism and homeostasis of cellular adenine nucleotide ratios in different intracellular compartments. This gene is highly expressed in skeletal muscle, brain and erythrocytes. Certain mutations in this gene resulting in a functionally inadequate Enzyme are associated with a rare genetic disorder causing nonspherocytic hemolytic anemia. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. This gene shares readthrough transcripts with the upstream ST6GALNAC6 gene. [provided by RefSeq, Jan 2022]

AK1 基因产物(3)

mRNA	Protein	Name
NM_000476.3	NP_000467.1	adenylate kinase isoenzyme 1 isoform 1
NM_001318121.1	NP_001305050.1	adenylate kinase isoenzyme 1 isoform 1
NM_001318122.2	NP_001305051.1	adenylate kinase isoenzyme 1 isoform 2

基因本体论

分子功能

分子功能 GO 注释	逻辑证据	参考文献	来源
enables adenylate kinase activity	EXP EXP: 通过实验结果推断	211388	GOA
enables nucleoside diphosphate kinase activity	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

AK1 蛋白结构

ADK

0
100
194 a.a.

蛋白主名

其他名称

adenylate kinase isoenzyme 1

ATP-AMP transphosphorylase 1

重组 AK1 蛋白

目录号	产品名	蛋白编号	纯度
HY-P74428	Adenylate Kinase 1/AK1 Protein, Human (His)	AAH01116 (M1-K194)	≥95%
HY-P700576	AK1 Protein, Human (His-SUMO)	P00568 (M1-K194)	≥95%

关联疾病

疾病名称

别名

Adenylate Kinase Deficiency, Hemolytic Anemia Due To

Hemolytic Anemia Due To Adenylate Kinase Deficiency

HAAKD

Hemolytic Anemia

Anemia, Hemolytic	Anemia Hemolytic
Anaemia Due To Other Disorders Of Glutathione Metabolism	Chronic Non Spherocytic Anaemia
G6pd - [Glucose-6-Phosphate Dehydrogenase Deficiency] Anaemia	Anaemia Due To Glucose-6-Phosphate Dehydrogenase Deficiency
Glucose-6-Phosphate Dehydrogenase Deficiency With Anaemia	Glucose-6-Phosphate Dehydrogenase Deficiency Anaemia
Favism Anaemia	Haemolytic Anaemia Due Tog6pd Deficiency
Favism	Pentose Phosphate Pathway Disorder Anaemia
Anaemia Due To Pentose Phosphate Pathway Defect

Nail-Patella Syndrome

Turner-Kieser Syndrome	Onychoosteodysplasia
Fong Disease	NPS
Hereditary Onycho-Osteodysplasia	Nps1
Hereditary Onychoostedysplasia	Iliac Horn Syndrome
Nail Patella Syndrome	Turner-Kiser Syndrome
Arthro-Onychodysplasia	Nps 1
Osteo-Onychodysplasia	Hereditary Osteo-Onychodysplasia
Osterreicher Syndrome	Pelvic Horn Syndrome
Österreicher-Turner Syndrome	Nps - [Nail-Patella Syndrome]
Hood - [Hereditary Onycho-Osteodysplasia] Syndrome

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

Anemia, Congenital Dyserythropoietic, Type Ib

CDAN1B	Congenital Dyserythropoietic Anemia Type Ib
Cda, Type Ib	Congenital Dyserythropoietic Anemia Type Type 1b
Dyserythropoietic Anemia, Congenital, Type Ib	Anemia, Congenital Dyserythropoietic, 1b
Cda Ib	Anemia, Dyserythropoietic, Congenital
Anemia, Dyserythropoietic, Congenital, Type Ib

Arthrogryposis, Distal, Type 7

Hecht Syndrome	Trismus-Pseudocamptodactyly Syndrome
Distal Arthrogryposis Type 7	Dutch-Kentucky Syndrome
DA7	Hecht-Beals Syndrome
Mouth, Inability To Open Completely, And Short Finger-Flexor Tendons	Mouth, Inability To Completely Open, And Short Finger-Flexor Tendons
Arthrogryposis Distal Type 7	Trismus Pseudocamptodactyly Syndrome
Arthrogryposis, Distal, 7

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-151262	JAK-IN-23	Inhibitor	98.90%	否
HY-101465	AK-1	Inhibitor	99.97%	否
HY-RS00505	AK1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否
HY-RS04242	EIF2AK1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Rattus norvegicus	AK1	RGD	RGD:2076
Canis familiaris	AK1	VGNC	VGNC:37745
Bos taurus	AK1	VGNC	VGNC:25770
Macaca mulatta	AK1	VGNC	VGNC:104875
Mus musculus	AK1	MGD	MGI:87977
Felis catus	AK1	VGNC	VGNC:59705
Macaca fascicularis	AK1	NCBI	NCBI:101867187
Others	AK1	NCBI

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站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

AK1 - adenylate kinase 1 Gene

关于 AK1

功能概要

AK1 基因产物(3)

AK1 蛋白结构

重组 AK1 蛋白

关联疾病

直系同源

热门区域

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AK1 - adenylate kinase 1 Gene

关于 AK1

功能概要

AK1 基因产物(3)

AK1 蛋白结构

重组 AK1 蛋白

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z