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    AGK acylglycerol kinase [ Homo sapiens (human) ]

    Gene ID: 55750, updated on 3-Nov-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
    mouse all
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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_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (141551410..141655244)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (142867231..142971096)
    RS_2024_09 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 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. 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
    2. Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients. Haghighi A, et al. Orphanet J Rare Dis, 2014 Aug 20. PMID 25208612, Free PMC Article
    3. 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
    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. Mitochondrial citrate synthase crystals: novel finding in Sengers syndrome caused by acylglycerol kinase (AGK) mutations. Siriwardena K, et al. Mol Genet Metab, 2013 Jan. PMID 23266196

    See all (131) 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
    		not available
    Sengers syndrome
    MedGen: C1859317 OMIM: 212350 GeneReviews: Mitochondrial DNA Maintenance Defects Overview
    		not available

    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 ceramide 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
    		  
    located_in mitochondrion HTP PubMed 
    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_2024_08

    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

    Gene LinkOut

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

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