AGK (acylglycerol kinase)

2009-09-01  

Identity

HGNC
LOCATION
7q34
LOCUSID
ALIAS
CATC5,CTRCT38,MTDPS10,MULK
FUSION GENES

Other Information

Locus ID:

NCBI: 55750
MIM: 610345
HGNC: 21869
Ensembl: ENSG00000006530

Variants:

dbSNP: 55750
ClinVar: 55750
TCGA: ENSG00000006530
COSMIC: AGK

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000006530ENST00000473247E9PC15
ENSG00000006530ENST00000473884F8WDD1
ENSG00000006530ENST00000492693Q53H12
ENSG00000006530ENST00000494688E9PG39
ENSG00000006530ENST00000629555E9PG39
ENSG00000006530ENST00000647568A0A3B3IS09
ENSG00000006530ENST00000648068Q53H12
ENSG00000006530ENST00000648068A4D1U5
ENSG00000006530ENST00000648395A0A3B3ISY9
ENSG00000006530ENST00000648690A0A3B3ITV0
ENSG00000006530ENST00000649014A0A3B3ITX7
ENSG00000006530ENST00000649286Q53H12
ENSG00000006530ENST00000649286A4D1U5
ENSG00000006530ENST00000649365A0A3B3IRM6
ENSG00000006530ENST00000649790A0A3B3IUC9
ENSG00000006530ENST00000649914A0A3B3ITD0
ENSG00000006530ENST00000650006A0A3B3ISZ0
ENSG00000006530ENST00000650365F8WDD1
ENSG00000006530ENST00000650547Q53H12
ENSG00000006530ENST00000650547A4D1U5

Expression (GTEx)

0
5
10
15
20
25
30
35
40

Pathways

PathwaySourceExternal ID
Glycerolipid metabolismKEGGko00561
Glycerolipid metabolismKEGGhsa00561
Metabolic pathwaysKEGGhsa01100
DiseaseREACTOMER-HSA-1643685
Diseases of signal transductionREACTOMER-HSA-5663202
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Fatty acid, triacylglycerol, and ketone body metabolismREACTOMER-HSA-535734
Triglyceride BiosynthesisREACTOMER-HSA-75109
Fatty Acyl-CoA BiosynthesisREACTOMER-HSA-75105
Oncogenic MAPK signalingREACTOMER-HSA-6802957
Signaling by BRAF and RAF fusionsREACTOMER-HSA-6802952

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
222779672012Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing.141
222848262012Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome.46
222848262012Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome.46
236764992013Acylglycerol kinase augments JAK2/STAT3 signaling in esophageal squamous cells.22
195492522009Expression of autotaxin and acylglycerol kinase in prostate cancer: association with cancer development and progression.20
224157312012Identification of a truncation mutation of acylglycerol kinase (AGK) gene in a novel autosomal recessive cataract locus.19
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
152520462004MuLK, a eukaryotic multi-substrate lipid kinase.16
248862452014Acylglycerol kinase promotes cell proliferation and tumorigenicity in breast cancer via suppression of the FOXO1 transcription factor.16
287127242017Acylglycerol Kinase Mutated in Sengers Syndrome Is a Subunit of the TIM22 Protein Translocase in Mitochondria.16

Citation

Dessen P

AGK (acylglycerol kinase)

Atlas Genet Cytogenet Oncol Haematol. 2009-09-01

Online version: http://atlasgeneticsoncology.org/gene/51085/agk