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AGK acylglycerol kinase [ Homo sapiens (human) ]

Gene ID: 55750, updated on 13-Apr-2024

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; AllianceGenome:HGNC:21869
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
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Genomic context

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See AGK in Genome Data Viewer
Location:
7q34
Exon count:
18
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (141551410..141655244)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (142867231..142971096)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (141251210..141355044)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene transmembrane protein 178B Neighboring gene uncharacterized LOC124901760 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:141129896-141130404 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:141130405-141130913 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:141181561-141182760 Neighboring gene NANOG hESC enhancer GRCh37_chr7:141184837-141185338 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:141190238-141190791 Neighboring gene MPRA-validated peak6797 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18718 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18717 Neighboring gene AGK divergent transcript Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:141284163-141284720 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr7:141284721-141285276 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:141285835-141286391 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr7:141286949-141287505 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:141374567-141375546 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:141391618-141392127 Neighboring gene DENN domain containing 11 Neighboring gene MPRA-validated peak6798 silencer Neighboring gene WEE2 antisense RNA 1 Neighboring gene RNA, U1 small nuclear 82, pseudogene Neighboring gene WEE2 oocyte meiosis inhibiting kinase

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. Sengers syndrome and AGK-related disorders - Minireview of phenotypic variability and clinical outcomes in molecularly confirmed cases. Wu CW, et al. Mol Genet Metab, 2023 Jul. PMID 37354892
  2. Circ_0008068 facilitates the oral squamous cell carcinoma development by microRNA-153-3p/acylgycerol kinase (AGK) axis. Long Y, et al. Bioengineered, 2022 May. PMID 35635053, Free PMC Article
  3. Acylglycerol kinase promotes tumour growth and metastasis via activating the PI3K/AKT/GSK3β signalling pathway in renal cell carcinoma. Zhu Q, et al. J Hematol Oncol, 2020 Jan 3. PMID 31900208, Free PMC Article
  4. Acylglycerol kinase functions as an oncogene and an unfavorable prognostic marker of human gliomas. Liu N, et al. Hum Pathol, 2016 Dec. PMID 27574811
  5. 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

See all (115) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Sengers syndrome and AGK-related disorders - Minireview of phenotypic variability and clinical outcomes in molecularly confirmed cases.
    Title: Sengers syndrome and AGK-related disorders - Minireview of phenotypic variability and clinical outcomes in molecularly confirmed cases.
  2. Acylglycerol kinase promotes ovarian cancer progression and regulates mitochondria function by interacting with ribosomal protein L39.
    Title: Acylglycerol kinase promotes ovarian cancer progression and regulates mitochondria function by interacting with ribosomal protein L39.
  3. Circ_0008068 facilitates the oral squamous cell carcinoma development by microRNA-153-3p/acylgycerol kinase (AGK) axis.
    Title: Circ_0008068 facilitates the oral squamous cell carcinoma development by microRNA-153-3p/acylgycerol kinase (AGK) axis.
  4. Downregulation of acylglycerol kinase suppresses high-glucose-induced endothelial-mesenchymal transition in human retinal microvascular endothelial cells through regulating the LPAR1/TGF-beta/Notch signaling pathway.
    Title: Downregulation of acylglycerol kinase suppresses high-glucose-induced endothelial-mesenchymal transition in human retinal microvascular endothelial cells through regulating the LPAR1/TGF-β/Notch signaling pathway.
  5. Acylglycerol kinase promotes paclitaxel resistance in nasopharyngeal carcinoma cells by regulating FOXM1 via the JAK2/STAT3 pathway.
    Title: Acylglycerol kinase promotes paclitaxel resistance in nasopharyngeal carcinoma cells by regulating FOXM1 via the JAK2/STAT3 pathway.
  6. Excellent Response to MEK Inhibition in an AGK-BRAF Gene Fusion Driven Carcinoma: Case Report and Literature Review.
    Title: Excellent Response to MEK Inhibition in an AGK-BRAF Gene Fusion Driven Carcinoma: Case Report and Literature Review.
  7. Defining the architecture of the human TIM22 complex by chemical crosslinking.
    Title: Defining the architecture of the human TIM22 complex by chemical crosslinking.
  8. Up-regulated acylglycerol kinase (AGK) expression associates with gastric cancer progression through the formation of a novel YAP1-AGK-positive loop.
    Title: Up-regulated acylglycerol kinase (AGK) expression associates with gastric cancer progression through the formation of a novel YAP1-AGK-positive loop.
  9. The role of AGK in thrombocytopoiesis and possible therapeutic strategies.
    Title: The role of AGK in thrombocytopoiesis and possible therapeutic strategies.
  10. Acylglycerol kinase promotes tumour growth and metastasis via activating the PI3K/AKT/GSK3beta signalling pathway in renal cell carcinoma.
    Title: Acylglycerol kinase promotes tumour growth and metastasis via activating the PI3K/AKT/GSK3β signalling pathway in renal cell carcinoma.
Submit: New GeneRIF Correction See all GeneRIFs (32)

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 38
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
enables ATP binding IEA
Inferred from Electronic Annotation
more info
  
enables ATP-dependent diacylglycerol kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables ATP-dependent diacylglycerol kinase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables acylglycerol kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables acylglycerol kinase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables ceramide kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables dihydroceramide kinase activity IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in ceramide biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in glycerolipid metabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in lipid phosphorylation IEA
Inferred from Electronic Annotation
more info
  
involved_in protein insertion into mitochondrial inner membrane IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
part_of TIM22 mitochondrial import inner membrane insertion complex IDA
Inferred from Direct Assay
more info
 PubMed 
part_of TIM22 mitochondrial import inner membrane insertion complex IPI
Inferred from Physical Interaction
more info
 PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
  
located_in mitochondrial inner membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in mitochondrial intermembrane space IDA
Inferred from Direct Assay
more info
 PubMed 
located_in mitochondrial membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in mitochondrial outer membrane TAS
Traceable Author Statement
more info
  
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in 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
XP_054214618.1
XP_054214619.1

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_001364948.3 → 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
    Consensus CDS
    CCDS94220.1
    UniProtKB/TrEMBL
    A0A3B3ISZ0, E9PC15
    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, Q75KN1, Q96GC3, Q9NP48
    UniProtKB/TrEMBL
    A4D1U5, E9PC15
    Related
    ENSP00000497280.1, ENST00000649286.2
    Conserved Domains (1) summary
    pfam00781
    Location:62 → 195
    DAGK_cat; Diacylglycerol kinase catalytic domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    141551410..141655244
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024446835.2 → XP_024302603.1  acylglycerol kinase, mitochondrial isoform X1

    UniProtKB/Swiss-Prot
    Q53H12, Q75KN1, Q96GC3, Q9NP48
    UniProtKB/TrEMBL
    A4D1U5, E9PC15
    Related
    ENSP00000496789.1, ENST00000650547.1
    Conserved Domains (1) summary
    pfam00781
    Location:62 → 195
    DAGK_cat; Diacylglycerol kinase catalytic domain

  2. XM_011516397.4 → XP_011514699.1  acylglycerol kinase, mitochondrial isoform X1

    See identical proteins and their annotated locations for XP_011514699.1

    UniProtKB/Swiss-Prot
    Q53H12, Q75KN1, Q96GC3, Q9NP48
    UniProtKB/TrEMBL
    A4D1U5, E9PC15
    Conserved Domains (1) summary
    pfam00781
    Location:62 → 195
    DAGK_cat; Diacylglycerol kinase catalytic domain

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

  1. NW_003315922.2 Reference GRCh38.p14 ALT_REF_LOCI_1

    Range
    476..21836
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    142867231..142971096
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054358644.1 → XP_054214619.1  acylglycerol kinase, mitochondrial isoform X1

    UniProtKB/Swiss-Prot
    Q53H12, Q75KN1, Q96GC3, Q9NP48
    UniProtKB/TrEMBL
    A4D1U5

  2. XM_054358643.1 → XP_054214618.1  acylglycerol kinase, mitochondrial isoform X1

    UniProtKB/Swiss-Prot
    Q53H12, Q75KN1, Q96GC3, Q9NP48
    UniProtKB/TrEMBL
    A4D1U5
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q53H12.2 GenPept UniProtKB/Swiss-Prot:Q53H12

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