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AGK acylglycerol kinase [ Homo sapiens (human) ]

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

Summary

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

Genomic context

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

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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

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)

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_001364948.2NP_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:62195
    DAGK_cat; Diacylglycerol kinase catalytic domain
  2. NM_018238.4NP_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:62195
    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_024446835.1XP_024302603.1  acylglycerol kinase, mitochondrial isoform X1

    Related
    ENSP00000496789.1, ENST00000650547.1
    Conserved Domains (1) summary
    pfam00781
    Location:62195
    DAGK_cat; Diacylglycerol kinase catalytic domain
  2. XM_011516397.3XP_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:62195
    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)
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