1. Gene
  2. GK - glycerol kinase Gene

GK - glycerol kinase Gene

中文名称:甘油激酶

种属: Homo sapiens

同用名: GK1; GKD

基因 ID: 2710 | 基因类型: protein coding

关于 GK

Cytogenetic location: Xp21.2 Genomic coordinates (GRCh38): X:30,653,423-30,731,462 (from NCBI)

This gene has 12 transcripts (splice variants), 309 orthologues, 6 paralogues and is associated with 4 phenotypes. Broad expression in kidney (RPKM 27.5), small intestine (RPKM 25.1) and 18 other tissues.

功能概要

该基因编码的蛋白质属于 FGGY 激酶家族。这种蛋白质是调节甘油摄取和代谢的关键酶。它通过 ATP 催化甘油磷酸化,产生 ADP 和甘油-3-磷酸。该基因的突变与甘油激酶缺乏症 (GKD) 有关。已发现该基因编码不同亚型的可变剪接转录物变体。[RefSeq 提供,2011 年 3 月]

The protein encoded by this gene belongs to the FGGY kinase family. This protein is a key Enzyme in the regulation of glycerol uptake and metabolism. It catalyzes the phosphorylation of glycerol by ATP, yielding ADP and glycerol-3-phosphate. Mutations in this gene are associated with glycerol kinase deficiency (GKD). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]

GK 基因产物(5)

mRNA Protein Name
NM_000167.6 NP_000158.1 glycerol kinase isoform b
NM_001128127.3 NP_001121599.1 glycerol kinase isoform c
NM_001205019.2 NP_001191948.1 glycerol kinase isoform d
NM_001399987.1 NP_001386916.1 glycerol kinase isoform 5
NM_203391.4 NP_976325.1 glycerol kinase isoform a
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables glycerol kinase activity IDA
IDA: 通过直接分析推断
15845384 GOA
enables glycerol kinase activity IMP
IMP: 通过突变表型推断
8651297 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
21988832 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in glycerol metabolic process IMP
IMP: 通过突变表型推断
8499898 GOA
involved in glycerol-3-phosphate biosynthetic process IDA
IDA: 通过直接分析推断
15845384 GOA
involved in glycerol-3-phosphate biosynthetic process IMP
IMP: 通过突变表型推断
8651297 GOA
involved in triglyceride metabolic process IMP
IMP: 通过突变表型推断
8651297 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytosol IDA
IDA: 通过直接分析推断
15845384 GOA
is active in mitochondrion IDA
IDA: 通过直接分析推断
15845384 GOA
located in nucleus IDA
IDA: 通过直接分析推断
15845384 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

GK 蛋白结构

FGGY_N

FGGY_N: FGGY family of carbohydrate kinases, N-terminal domain (1 - 67)

FGGY_C

FGGY_C: FGGY family of carbohydrate kinases, C-terminal domain (76 - 267)

  • 0
  • 100
  • 200
  • 300
  • 354 a.a.
蛋白主名 其他名称

glycerol kinase

ATP:glycerol 3-phosphotransferase

GK 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
GK P32189 NR4A1 Homo sapiens P22736
Pull Down
21988832
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Glycerol Kinase Deficiency

Hyperglycerolemia

GKD

Gk Deficiency

Gk1 Deficiency

Deficiency Of Glycerol Kinase

Isolated Glycerol Kinase Deficiency

Glycerol Kinase Deficiency, Adult Form

Glycerol Kinase Deficiency, Juvenile Form

Deficiency, Glycerol Kinase

Adrenal Hypoplasia, Congenital

X-Linked Adrenal Hypoplasia Congenita

Congenital Adrenal Hypoplasia

AHC

Adrenal Hypoplasia, Congenital, With Hypogonadotropic Hypogonadism

Adrenal Hypoplasia Congenita

X-Linked Ahc

Ahch

Ahx

Ahc With Hhg

Cytomegalic Adrenocortical Hypoplasia

Ahc With Isolated Gonadotropin Deficiency

X-Linked Congenital Adrenal Hypoplasia

Congenital Adrenal Hypoplasia, X-Linked

Addison Disease, X-Linked

Primary Adrenal Hypoplasia

Adrenal Hypoplasia Congenital, X-Linked

X-Linked Addison Disease

X-Linked Adrenal Hypoplasia Congenital

Congenital Hypoplasia Of Adrenal Gland

Congenital Adrenal Gland Hypoplasia

Congenital Small Adrenal Gland

Adrenal Hypoplasia

Cah - [Congenital Adrenal Hypoplasia]

Ocular Albinism

Albinism, Ocular

Oa

Xloa

Albinism Ocular

Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies

Image Syndrome

IMAGE

Intrauterine Growth Retardation-Metaphyseal Dysplasia-Adrenal Hypoplasia Congenita-Genital Anomalies Syndrome

Intrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies

Intrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Abnormalities

Intrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies

Image Anomaly

Image Association

Fetal Growth Retardation

Pyle Metaphyseal Dysplasia

Muscular Dystrophy, Becker Type

Becker Muscular Dystrophy

BMD

Benign Pseudohypertrophic Muscular Dystrophy

Benign Congenital Myopathy

Becker Dystrophinopathy

Becker'S Muscular Dystrophy

Muscular Dystrophy, Pseudohypertrophic Progressive, Becker Type

Muscular Dystrophy Pseudohypertrophic Progressive, Becker Type

Muscular Dystrophy Becker

Dystrophy, Muscular, Becker Type

Dystrophinopathy

Becker Dystrophy

Becker Type Dystrophy

Bmd - [Becker Muscular Dystrophy]

Aland Island Eye Disease

AIED

Forsius-Eriksson Type Ocular Albinism

Forsius-Eriksson Syndrome

Autoimmune Inner Ear Disease

Forsius Eriksson Type Ocular Albinism

Aland Islands Eye Disease

Aaland Island Eye Disease

Ocular Albinism, Type Ii

Chromosome Xp21 Deletion Syndrome

Complex Glycerol Kinase Deficiency

Xp21 Microdeletion Syndrome

Monosomy Xp21

Xp21 Deletion Syndrome

Complex Gkd

Del

Xp21 Contiguous Gene Deletion Syndrome

Glycerol Kinase Deficiency - Contiguous Gene Syndrome

Hypoadrenocorticism, Familial

Addison Disease

Primary Adrenocortical Insufficiency

Addison'S Disease

Adrenal Gland Hypofunction

Adrenal Hypoplasia

Adrenal Aplasia

Addison Disease, Chronic Adrenal Insufficiency

Primary Hypoadrenalism

Hypoadrenocorticism Familial

Autoimmune Addison Disease

Autoimmune Adrenalitis

Classic Addison Disease

Primary Addison Disease

Addisons Disease

Addison Disease, Susceptibility To

Autoimmune Primary Adrenal Insufficiency

Addison'S Disease Due To Autoimmunity

Eye Disease

Eye Diseases

Abnormality Of The Eye

Toxoplasma Oculopathy

Internal Hordeolum
Diabetes Mellitus

Diabetes

Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To

Carbamoyl Phosphate Synthetase I Deficiency

Cps I Deficiency

Carbamoyl Phosphate Synthetase I Deficiency Disease

Carbamoyl-Phosphate Synthase I Deficiency Disease

Congenital Hyperammonemia, Type I

Carbamoylphosphate Synthetase I Deficiency

Carbamoyl Phosphate Synthetase 1 Deficiency

CPS1D

Carbamoyl Phosphate Synthetase Deficiency

Cps 1 Deficiency

Carbamyl Phosphate Synthetase Deficiency

Hyperammonemia Due To Carbamoyl Phosphate Synthetase 1 Deficiency

Carbamyl-Phosphate Synthetase I Deficiency Disease

Carbamoyl-Phosphate Synthetase 1 Deficiency

Cps1 Deficiency

Carbamoyl-Phosphate Synthetase I Deficiency

Carbamoyl-Phosphate Synthetase Deficiency

Hyperammonemia Due To Carbamoyl Phosphate Synthetase I Deficiency

Deficiency, Carbamoylphosphate Synthetase I

Carbamylphosphate Synthetase Deficiency

Muscular Dystrophy, Duchenne Type

Duchenne Muscular Dystrophy

DMD

Muscular Dystrophy, Duchenne

Muscular Dystrophy, Pseudohypertrophic Progressive, Duchenne Type

Severe Dystrophinopathy, Duchenne Type

Muscular Dystrophy Duchenne

Dystrophy, Muscular, Duchenne Type

Benign Duchenne Muscular Dystrophy

Duchenne Motor Neuron Disease

Duchenne Type Dystrophy

Duchenne-Griesinger Disease

Muscular Dystrophy

Muscular Dystrophies

Congenital Md

Congenital Muscular Dystrophy

Cmd

Mdc

Dystrophy, Muscular

Gower'S Muscular Dystrophy

Progressive Musclular Dystrophy

Pseudohypertrophic Atrophy

Pseudohypertrophic Muscle Paralysis

Pseudohypertrophic Muscular Atrophy

Pseudohypertrophic Muscular Dystrophy

Pseudohypertrophic Paralysis

Pseudomuscular Hypertrophy

Deafness, Autosomal Recessive 8

Neurosensory Nonsyndromic Recessive Deafness 8

DFNB8

Dfnb10

Deafness, Autosomal Recessive 10

Deafness, Childhood-Onset Neurosensory, Autosomal Recessive 8

Nsrd8

Autosomal Recessive Nonsyndromic Deafness 8

Deafness, Autosomal Recessive 8/10

Autosomal Recessive Deafness 10

Autosomal Recessive Deafness 8

Childhood-Onset Neurosensory Autosomal Recessive Deafness 8

Nrsd8

Deafness, Autosomal Recessive, 8

Childhood-Onset Neurosensory Deafness Autosomal Recessive 8

Deafness Autosomal Recessive 10

Deafness Autosomal Recessive 8/10

Deafness Neurosensory Autosomal Recessive 8

Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 8

Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 8

Deafness, Autosomal Recessive, Type 8/10

Type 2 Diabetes Mellitus

Insulin Resistance

NIDDM

Type 2 Diabetes

Diabetes Mellitus, Non-Insulin-Dependent

T2D

Noninsulin-Dependent Diabetes Mellitus

Diabetes Mellitus, Type Ii

Maturity-Onset Diabetes

Insulin Resistance, Severe, Digenic

Diabetes Mellitus, Type 2

Diabetes Mellitus, Noninsulin-Dependent

Diabetes Mellitus, Noninsulin-Dependent, Association With

Diabetes Mellitus, Noninsulin-Dependent, Late Onset

Hypertension, Insulin Resistance-Related, Susceptibility To

Insulin Resistance, Susceptibility To

Non-Insulin-Dependent Diabetes Mellitus

Type Ii Diabetes Mellitus

Adult-Onset Diabetes Mellitus

Maturity-Onset Diabetes Mellitus

Diabetes Mellitus Type 2

Type Ii Diabetes

Type 2 Diabetes Mellitus, Susceptibility To

Diabetes, Type 2

Diabetes Mellitus, Noninsulin-Dependent, Susceptibility To

Diabetes Mellitus, Non-Insulin-Dependent, Susceptibility To

Diabetes Mellitus, Type 2, Susceptibility To

Diabetes Mellitus, Noninsulin-Dependent, 2

Diabetes Mellitus, Type Ii, Susceptibility To

Hypertension, Insulin Resistance-Related

Adult-Onset Diabetes

Aodm

Diabetes Mellitus, Adult-Onset

Diabetes Mellitus Type Ii

Diabetes Mellitus Type 2, Susceptibility To

Diabetes, Type Ii, Susceptibility To

Diabetes Type 2

Diabetes Mellitus

Adult Onset Diabetes

Maturity Onset Diabetes

Nonketotic Diabetes

Non-Insulin Dependent Diabetes Mellitus

T2dm - [Type 2 Diabetes Mellitus]

Niddm - [Non Insulin Dependent Diabetes Mellitus]

Dm2

Dm Type Ii

Diabetic Type 2

Insulin Requiring Type 2 Diabetes

Noninsulin Dependent Diabetes

Non-Insulin-Dependent Diabetes Mellitus Without Complications

Diabetes Due To Insulin Secretory Defect

Diabetes Mellitus Due To Insulin Secretory Defect

Non-Insulin-Dependent Diabetes Of The Young

Senile Diabetes

Nonketotic Hyperglycaemia

Stable Diabetes

Myopathy

Muscular Diseases

Myopathies

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
Mus musculus GK MGD MGI:106594
Rattus norvegicus GK NCBI NCBI:79223