AGK - acylglycerol kinase Gene

Homo sapiens

Also known as MULK; CATC5; CTRCT38; MTDPS10

Gene ID: 55750 | Gene type: protein coding

About AGK

Cytogenetic location: 7q34 Genomic coordinates (GRCh38): 7:141,551,410-141,655,244 (from NCBI)

This gene has 25 transcripts (splice variants), 1 gene allele, 213 orthologues, 4 paralogues and is associated with 5 phenotypes. Ubiquitous expression in heart (RPKM 7.4), brain (RPKM 6.6) and 25 other tissues.

Summary

The protein encoded by this gene is a mitochondrial membrane protein involved in lipid and glycerolipid metabolism. The encoded protein is a lipid kinase that catalyzes the formation of phosphatidic and lysophosphatidic acids. Defects in this gene have been associated with mitochondrial DNA depletion syndrome 10. [provided by RefSeq, Feb 2012]

AGK Products(2)

mRNA	Protein	Name
NM_001364948.3	NP_001351877.1	acylglycerol kinase, mitochondrial isoform 2
NM_018238.4	NP_060708.1	acylglycerol kinase, mitochondrial isoform 1 precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables ATP-dependent diacylglycerol kinase activity	IDA IDA: Inferred from direct assay	15939762	GOA
enables acylglycerol kinase activity	IDA IDA: Inferred from direct assay	15939762	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	28514442	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in protein insertion into mitochondrial inner membrane	IDA IDA: Inferred from direct assay	28712724	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of TIM22 mitochondrial import inner membrane insertion complex	IDA IDA: Inferred from direct assay	28712724	GOA
part of TIM22 mitochondrial import inner membrane insertion complex	IPI IPI: Inferred from physical interaction	32901109	GOA
located in mitochondrial inner membrane	IDA IDA: Inferred from direct assay	28712724	GOA
located in mitochondrial intermembrane space	IDA IDA: Inferred from direct assay	28712724	GOA
located in mitochondrial membrane	IDA IDA: Inferred from direct assay	15939762	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

AGK Protein Structure

DAGK_cat

0
100
200
300
422 a.a.

Protein Preferred Names

Protein Names

acylglycerol kinase, mitochondrial

hAGK

Related Diseases

Diseases

Alias

Sengers Syndrome

Mitochondrial Dna Depletion Syndrome 10	Cardiomyopathy And Cataract
Cataract And Cardiomyopathy	MTDPS10
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome	Cardiomyopathic Mitochondrial Dna Depletion Syndrome 10
Senger Syndrome

Cataract 38

CTRCT38	Catc5
Autosomal Recessive Congenital Cataract 5	Cataract, Autosomal Recessive Congenital 5
Cataract 38, Autosomal Recessive	Cataract, Type 38

Trichohepatoenteric Syndrome 1

Trichohepatoenteric Syndrome	Syndromic Diarrhea
Tricho-Hepato-Enteric Syndrome	Sd/The
Syndromic Diarrhea/Tricho-Hepato-Enteric Syndrome	THES1
Phenotypic Diarrhea	Thes
Phenotypic Diarrhea Of Infancy	Diarrhea, Syndromic
Diarrhea, Fatal Infantile, With Trichorrhexis Nodosa	Intractable Diarrhea With Phenotypic Anomalies
Syndromatic Diarrhea	Fatal Infantile Diarrhea With Trichorrhexis Nodosa

Cataract 44

CTRCT44	Total Early-Onset Cataract
Cataract 44 And Hypotrichosis	Cataract And Hypotrichosis
Cataract, Type 44

Mitochondrial Dna Depletion Syndrome

Mtdna Depletion Syndrome

3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome

Megdel Syndrome	MEGDEL
Mgca6	3-Methylglutaconic Aciduria With Dystonia-Deafness, Hepatopathy, Encephalopathy, And Leigh-Like Syndrome
Megdhel	3-Methylglutaconic Aciduria, Type Vi
Serac1 Defect	3-Methylglutaconic Aciduria Type 6
3-Mgca Type Iv	3-Mgca-4
3-Methylglutaconic Aciduria Type Vi	3-Methylglutaconic Aciduria Type Iv With Sensorineural Deafness, Encephalopathy, And Leigh-Like Syndrome
Megdhel Syndrome	3-Methylglutaconic Aciduria With Deafness-Encephalopathy-Leigh-Like Syndrome
3-Methylglutaconic Aciduria With Hearing Loss-Encephalopathy-Leigh-Like Syndrome	3-Methylglutaconic Aciduria With Deafness, Encephalopathy, Leigh-Like Syndrome
3-Methylglutaconic Aciduria Type Iv With Sensorineural Deafness, Encephalopathy And Leigh-Like Syndrome

Cataract

Cataracts	Cat - [Cataract]
Cataract Form	Lens Opacity
Lens Opacities

3-Methylglutaconic Aciduria, Type V

3-Methylglutaconic Aciduria Type 5	Mga5
MGCA5	Dcma
Dcma Syndrome	Dilated Cardiomyopathy With Ataxia
3-Methylglutaconic Aciduria Type V	Mga Type V
Cardiomyopathy, Dilated, With Ataxia	Mga, Type V
Dilated Cardiomyopathy With Ataxia Syndrome	Dnajc19 Defect
3-Methylglutaconic Aciduria 5	3-Alpha-Methylglutaconic Aciduria Type 5
3-@Methylglutaconic Aciduria, Type V

Mitochondrial Complex V Deficiency, Nuclear Type 5

Mitochondrial Complex V Deficiency	MC5DN5
Mitochondrial Complex V Deficiency, Atp5f1d Type	Mitochondrial Complex V Deficiency
Mitochondrial Complex 5 Deficiency Nuclear Type 5	Complex 5 Mitochondrial Respiratory Chain Deficiency
Atp Synthase Deficiency	Mitochondrial Complex V Deficiency, Nuclear Type 5
Complex V Deficiency

Muscular Dystrophy, Congenital, Megaconial Type

Megaconial Type Congenital Muscular Dystrophy	Congenital Megaconial Myopathy
Congenital Muscular Dystrophy Due To Phosphatidylcholine Biosynthesis Defect	Congenital Muscular Dystrophy With Mitochondrial Structural Abnormalities
Megaconial Congenital Muscular Dystrophy	MDCMC
Muscular Dystrophy, Congenital, With Mitochondrial Structural Abnormalities	Megaconial Congénital Muscular Dystrophy
Dystrophy, Muscular, Congenital, Megaconial Type

Lactic Acidosis

Acidosis, Lactic

Acidosis Lactic

3-Methylglutaconic Aciduria

3-Methyl Glutaconic Aciduria

Mitochondrial Dna Depletion Syndrome 13

MTDPS13	Fbxl4 Deficiency
Fbxl4-Related Encephalomyopathic Mitochondrial Dna Depletion Syndrome	Mitochondrial Dna Depletion Syndrome 13, Encephalomyopathic Type
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Variable Craniofacial Anomalies	Mtdna Depletion Syndrome, Encephalomyopathic Form With Variable Craniofacial Anomalies
Fbxl4-Related Early-Onset Mitochondrial Encephalopathy	Mitochondrial Dna Depletion Syndrome 13 , Encephalomyopathic Type
Bxl4-Related Early-Onset Mitochondrial Encephalopathy	Encephalomyopathic Mitochondrial Dna Depletion Syndrome-13
Fbxl4-Related Early Onset Mitochondrial Encephalopathy	Mitochondrial Dna Depletion Syndrome, Type 13

Hypertrophic Cardiomyopathy

Hypertrophic Obstructive Cardiomyopathy	Cardiomyopathy, Hypertrophic
Cardiomyopathy Hypertrophic Obstructive	Cardiomyopathy, Hypertrophic, Familial
Idiopathic Myocardial Hypertrophy	Idiopathic Hypertrophic Cardiomyopathy
Obstructive Idiopathic Hypertrophic Cardiomyopathy	Obstructive Cardiomyopathy
Idiopathic Hypertrophic Subaortic Stenosis	Muscular Subaortic Stenosis
Hypertrophic Obstructive Subaortic Stenosis

Barth Syndrome

3-Methylglutaconic Aciduria Type 2	BTHS
Cardioskeletal Myopathy With Neutropenia And Abnormal Mitochondria	Mga Type Ii
Mga2	Mgca2
Mga Type 2	3-Methylglutaconic Aciduria Type Ii
3-Methylglutaconic Aciduria, Type Ii	Mga, Type Ii
3-Methylglutaconicaciduria Type 2	3-Methylglutaconicaciduria Type Ii
Taz Defect	3 Methylglutaconic Aciduria, Type Ii
Dnajc19 Defect	Cardioskeletal Myopathy-Neutropenia Syndrome
X-Linked Cardioskeletal Myopathy And Neutropenia	3-Alpha-Methylglutaconic Aciduria Type 2
Agm2	Cardioskeletal Myopathy-Neutropenia
Invm	Left Ventricular Non-Compaction Isolated X-Linked
Non-Compaction Of Left Ventricular Myocardium Isolated X-Linked	Agammaglobulinemia 2, Autosomal Recessive

Mitochondrial Metabolism Disease

Abnormality Of Mitochondrial Metabolism

Mitochondrial Diseases

3-Methylglutaconic Aciduria, Type Iii

Optic Atrophy	3-Methylglutaconic Aciduria Type 3
Costeff Syndrome	Mga3
Costeff Optic Atrophy Syndrome	Optic Atrophy Plus Syndrome
Infantile Optic Atrophy With Chorea And Spastic Paraplegia	3-Methylglutaconic Aciduria Type Iii
Autosomal Recessive Optic Atrophy Plus Syndrome	Autosomal Recessive Optic Atrophy Type 3
Opa3 Defect	MGCA3
Mga, Type Iii	Iraqi Jewish Optic Atrophy Plus
Mga Type Iii	Optic Atrophy, Infantile, With Chorea And Spastic Paraplegia
Iraqi-Jewish 'Optic Atrophy Plus'	Optic Atrophy 3, Autosomal Recessive
Opa3, Autosomal Recessive	Opa3-Related 3-Methylglutaconic Aciduria
Iraqi-Jewish Optic Atrophy Plus	Atrophy Of Optic Disc
3-Alpha Methylglutaconic Aciduria Type Iii	Optic Atrophy 3
Optic Atrophy Infantile With Chorea And Spastic Paraplegia	Autosomal Recessive Opa3
Autosomal Recessive Optic Atrophy 3	3-Methylglutaconic Aciduria 3
3-Alpha-Methylglutaconic Aciduria Type 3	Optic Atrophy 3 Autosomal Recessive
Atrophy, Optic	Atrophy, Optic, Plus Syndrome
Optic Nerve Atrophy	Primary Optic Atrophy
Oa - [Optic Atrophy]	Second Cranial Nerve Atrophy
Second Cranium Nerve Atrophy

Prostate Cancer

Prostate Carcinoma	Prostate Cancer, Familial
Prostate Neoplasm	Prostate Cancer, Somatic
Prostate Cancer, Susceptibility To	Prostatic Cancer
Prostatic Neoplasms	Hereditary Prostate Cancer
Prostatic Neoplasm	Cancer Of Prostate
Carcinoma Of Prostate	Familial Prostate Cancer
Familial Prostate Carcinoma	Malignant Tumor Of Prostate
Malignant Neoplasm Of Prostate	Prostate Cancer, Familial, Susceptibility To
Malignant Tumor Of The Prostate	Ngp - New Growth Of Prostate
Tumor Of The Prostate	Prostate Cancer, Hereditary
Cancer Of The Prostate	Malignant Neoplasm Of The Prostate
Prostatic Carcinoma	PC
Prca	Cancer, Prostate
Malignant Prostatic Tumour	Malignant Tumour Of Prostate
Primary Prostate Cancer	Primary Malignant Neoplasm Of Prostate
Prostate Gland Cancer

Marinesco-Sjogren Syndrome

Marinesco-Sjögren Syndrome	MSS
Marinesco-Garland Syndrome	Garland-Moorhouse Syndrome
Hereditary Oligophrenic Cerebello-Lental Degeneration	Oligophrenic Cerebellolenticular Degeneration
Marinesco-Sjogren Syndrome-Hypergonadotrophic Hypogonadism	Marinesco-Sjogren Syndrome-Myopathy
Marinesco-Sjogren-Garland Syndrome	Marinesco-Sjoegren Syndrome

Lens Disease

Lens Diseases

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-100578	AGK2		99.62%	Unkown
HY-119857	AGK7		/	Unkown
HY-RS00448	AGK Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	AGK	VGNC	VGNC:69669
Felis catus	AGK	VGNC	VGNC:59681
Canis familiaris	AGK	VGNC	VGNC:37703
Rattus norvegicus	AGK	RGD	RGD:1562046
Bos taurus	AGK	VGNC	VGNC:25728
Mus musculus	AGK	MGD	MGI:1917173
Others	AGK	NCBI

Name
Email *

	Sorry, but the email address you supplied was invalid.