GK - glycerol kinase Gene

Also Known as GK1; GKD

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 2710

About 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.

Summary

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 Products (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
Molecular Function GO Annotation Evidence References Source
enables glycerol kinase activity IDA
IDA: Inferred from direct assay
15845384 GOA
enables glycerol kinase activity IMP
IMP: Inferred from mutant phenotype
8651297 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
21988832 GOA
Biological Process GO Annotation Evidence References Source
involved in glycerol metabolic process IMP
IMP: Inferred from mutant phenotype
8499898 GOA
involved in glycerol-3-phosphate biosynthetic process IDA
IDA: Inferred from direct assay
15845384 GOA
involved in glycerol-3-phosphate biosynthetic process IMP
IMP: Inferred from mutant phenotype
8651297 GOA
involved in triglyceride metabolic process IMP
IMP: Inferred from mutant phenotype
8651297 GOA
Cellular Component GO Annotation Evidence References Source
located in cytosol IDA
IDA: Inferred from direct assay
15845384 GOA
is active in mitochondrion IDA
IDA: Inferred from direct assay
15845384 GOA
located in nucleus IDA
IDA: Inferred from direct assay
15845384 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

GK Protein Structure

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.
Protein Preferred Names Protein Names

glycerol kinase

  • ATP:glycerol 3-phosphotransferase

GK Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
GK P32189 NR4A1 Homo sapiens P22736 21988832
Cross: Cross-species interaction Intra: Intraspecies interaction

GK Antibodies

Cat. No. 상품명 신청 Reactivity
HY-P83154 Glycerol Kinase Antibody (YA2899) WB, FC, IP Human, Mouse, Rat

Related Diseases

Diseases Alias
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

Diseases Alias
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

Orthologs Information

Species Symbol Source ID
Mus musculus GK MGD MGI:106594