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AGK acylglycerol kinase [ Homo sapiens (human) ]

Gene ID: 55750, updated on 21-Jun-2020

Summary

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Official Symbol
AGKprovided by HGNC
Official Full Name
acylglycerol kinaseprovided by HGNC
Primary source
HGNC:HGNC:21869
See related
Ensembl:ENSG00000006530 MIM:610345
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MULK; CATC5; CTRCT38; MTDPS10
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]
Expression
Ubiquitous expression in heart (RPKM 7.4), brain (RPKM 6.6) and 25 other tissues See more
Orthologs
mouse all

Genomic context

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See AGK in Genome Data Viewer
Location:
7q34
Exon count:
19
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (141551410..141662153)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (141251078..141354209)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene transmembrane protein 178B Neighboring gene NADH:ubiquinone oxidoreductase subunit B10 pseudogene 2 Neighboring gene uncharacterized LOC105375538 Neighboring gene DENN domain containing 11 Neighboring gene WEE2 antisense RNA 1 Neighboring gene RNA, U1 small nuclear 82, pseudogene Neighboring gene WEE2 oocyte meiosis inhibiting kinase Neighboring gene single stranded DNA binding protein 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Acylglycerol kinase functions as an oncogene and an unfavorable prognostic marker of human gliomas. Liu N, et al. Hum Pathol, 2016 Dec. PMID 27574811
  2. Acylglycerol kinase is over-expressed in early-stage cervical squamous cell cancer and predicts poor prognosis. Sun F, et al. Tumour Biol, 2016 May. PMID 26662108
  3. Overexpression of acylglycerol kinase is associated with poorer prognosis and lymph node metastasis in nasopharyngeal carcinoma. Zhu Q, et al. Tumour Biol, 2016 Mar. PMID 26443540, Free PMC Article
  4. Acylglycerol kinase promotes the proliferation and cell cycle progression of oral squamous cell carcinoma. Liu G, et al. Mol Med Rep, 2015 Aug. PMID 25872568
  5. AGK enhances angiogenesis and inhibits apoptosis via activation of the NF-κB signaling pathway in hepatocellular carcinoma. Cui Y, et al. Oncotarget, 2014 Dec 15. PMID 25474138, Free PMC Article

See all (63) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. miR-610 expression was significantly downregulated in both oral squamous cell carcinoma (OSCC) tissues and cell lines. Low miR-610 expression was associated with advanced T classification, TNM stage and poorer prognosis. Overexpression of miR-610 significantly suppressed OSCC cells proliferation, migration, invasion and EMT process. Mechanistically, AGK was confirmed to be the downstream target of miR-610 in OSCC cells.
    Title: MiR-610 functions as a tumor suppressor in oral squamous cell carcinoma by directly targeting AGK.
  2. Identify AGK as a bona fide subunit of TIM22 providing an exciting and unexpected link between mitochondrial protein import and Sengers syndrome.
    Title: Sengers Syndrome-Associated Mitochondrial Acylglycerol Kinase Is a Subunit of the Human TIM22 Protein Import Complex.
  3. The dual function of AGK as lipid kinase and constituent of the TIM22 complex reveals that disturbances in both phospholipid metabolism and mitochondrial protein biogenesis contribute to the pathogenesis of Sengers syndrome.
    Title: Acylglycerol Kinase Mutated in Sengers Syndrome Is a Subunit of the TIM22 Protein Translocase in Mitochondria.
  4. Acylglycerol kinase functions as an oncogene and an unfavorable prognostic marker for human gliomas.
    Title: Acylglycerol kinase functions as an oncogene and an unfavorable prognostic marker of human gliomas.
  5. We showed that AGK was over-expressed in cervical cancer cell lines and clinical tissues, and over-expression of AGK was associated with poor survival outcomes of early-stage CSCC patients. AGK can be used as an independent prognostic marker for early-stage CSCC.
    Title: Acylglycerol kinase is over-expressed in early-stage cervical squamous cell cancer and predicts poor prognosis.
  6. Data suggest that acylglycerol kinase (AGK) has potential as a prognostic factor for overall survival in nasopharyngeal carcinoma (NPC).
    Title: Overexpression of acylglycerol kinase is associated with poorer prognosis and lymph node metastasis in nasopharyngeal carcinoma.
  7. AGK promotes the proliferation and cell cycle progression of oral squamous cell carcinoma.
    Title: Acylglycerol kinase promotes the proliferation and cell cycle progression of oral squamous cell carcinoma.
  8. miR-194 could reduce the phosphoinositide 3-kinase (PI3K)/AKT/FoxO3a signaling pathway by suppressing acylglycerol kinase (AGK) directly.
    Title: miR-194 regulated AGK and inhibited cell proliferation of oral squamous cell carcinoma by reducing PI3K-Akt-FoxO3a signaling.
  9. findings provide new evidence that AGK plays an important role in promoting angiogenesis and providing resistance to apoptosis in hepatocellular carcinoma
    Title: AGK enhances angiogenesis and inhibits apoptosis via activation of the NF-κB signaling pathway in hepatocellular carcinoma.
  10. compare our findings to those in 21 previously reported AGK mutation-positive Sengers patients, confirming that Sengers syndrome is a clinically recognisable disorder of mitochondrial energy metabolism
    Title: Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients.
Submit: New GeneRIF Correction See all GeneRIFs (22)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Cataract, autosomal recessive congenital 5
MedGen: C3553494 OMIM: 614691 GeneReviews: Not available
Compare labs
Sengers syndrome
MedGen: C1859317 OMIM: 212350 GeneReviews: Mitochondrial DNA Maintenance Defects Overview
Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ10842

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
  
D-erythro-sphingosine kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
NAD+ kinase activity IEA
Inferred from Electronic Annotation
more info
  
acylglycerol kinase activity IDA
Inferred from Direct Assay
more info
 PubMed 
ceramide kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
diacylglycerol kinase activity IDA
Inferred from Direct Assay
more info
 PubMed 
dihydroceramide kinase activity IEA
Inferred from Electronic Annotation
more info
  
lipid kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
Process Evidence Code Pubs
ceramide biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
glycerophospholipid biosynthetic process TAS
Traceable Author Statement
more info
  
lipid phosphorylation IEA
Inferred from Electronic Annotation
more info
  
phosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
protein import into mitochondrial inner membrane IDA
Inferred from Direct Assay
more info
 PubMed 
sphingolipid metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
sphingosine biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
Component Evidence Code Pubs
TIM22 mitochondrial import inner membrane insertion complex IDA
Inferred from Direct Assay
more info
 PubMed 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
cytosol TAS
Traceable Author Statement
more info
  
integral component of mitochondrial inner membrane IDA
Inferred from Direct Assay
more info
 PubMed 
intracellular membrane-bounded organelle IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
  
membrane IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
mitochondrial inner membrane IDA
Inferred from Direct Assay
more info
 PubMed 
mitochondrial intermembrane space IDA
Inferred from Direct Assay
more info
 PubMed 
mitochondrial membrane IDA
Inferred from Direct Assay
more info
 PubMed 
mitochondrial outer membrane TAS
Traceable Author Statement
more info
  
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
  

General protein information

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Preferred Names
acylglycerol kinase, mitochondrial
Names
hAGK
hsMuLK
multi-substrate lipid kinase
multiple substrate lipid kinase
NP_001351877.1
NP_060708.1
XP_011514699.1
XP_024302603.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_032079.1 RefSeqGene

    Range
    5133..108967
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1251

mRNA and Protein(s)

  1. NM_001364948.2 → NP_001351877.1  acylglycerol kinase, mitochondrial isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 3' structure resulting in a novel 3' coding region, compared to variant 1. The encoded isoform (2) is shorter, and has a novel C-terminus, compared to isoform 1
    Source sequence(s)
    AC004918, AC073878, AC099547
    Related
    ENSP00000497457.1, ENST00000650006.1
    Conserved Domains (1) summary
    pfam00781
    Location:62 → 195
    DAGK_cat; Diacylglycerol kinase catalytic domain

  2. NM_018238.4 → NP_060708.1  acylglycerol kinase, mitochondrial isoform 1 precursor

    See identical proteins and their annotated locations for NP_060708.1

    Status: REVIEWED

    Description
    Transcript Variant: The variant (1) represents the longer transcript and encodes the longer isoform (1)
    Source sequence(s)
    AJ278150, AK001704, AW961934, BC022777, BU740733
    Consensus CDS
    CCDS5865.1
    UniProtKB/Swiss-Prot
    Q53H12
    UniProtKB/TrEMBL
    A4D1U5
    Related
    ENSP00000497280.1, ENST00000649286.2
    Conserved Domains (1) summary
    pfam00781
    Location:62 → 195
    DAGK_cat; Diacylglycerol kinase catalytic domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    141551410..141662153
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024446835.1 → XP_024302603.1  acylglycerol kinase, mitochondrial isoform X1

    Related
    ENSP00000496789.1, ENST00000650547.1
    Conserved Domains (1) summary
    pfam00781
    Location:62 → 195
    DAGK_cat; Diacylglycerol kinase catalytic domain

  2. XM_011516397.3 → XP_011514699.1  acylglycerol kinase, mitochondrial isoform X1

    See identical proteins and their annotated locations for XP_011514699.1

    UniProtKB/Swiss-Prot
    Q53H12
    UniProtKB/TrEMBL
    A4D1U5
    Conserved Domains (1) summary
    pfam00781
    Location:62 → 195
    DAGK_cat; Diacylglycerol kinase catalytic domain

Reference GRCh38.p13 ALT_REF_LOCI_1

Genomic

  1. NW_003315922.2 Reference GRCh38.p13 ALT_REF_LOCI_1

    Range
    476..21836
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q53H12.2 GenPept UniProtKB/Swiss-Prot:Q53H12

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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