AGK acylglycerol kinase [Homo sapiens (human)] - Gene

Summary

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

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_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
Defining the architecture of the human TIM22 complex by chemical crosslinking.
Title: Defining the architecture of the human TIM22 complex by chemical crosslinking.
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.
The role of AGK in thrombocytopoiesis and possible therapeutic strategies.
Title: The role of AGK in thrombocytopoiesis and possible therapeutic strategies.
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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-171949 (e-PCR)
- UniSTS:184588

D7S2726 (e-PCR)
- UniSTS:32322

RH80969 (e-PCR)
- UniSTS:86109

RH45804 (e-PCR)
- UniSTS:81531

D7S1627 (e-PCR)
- UniSTS:28041

G31090 (e-PCR)
- UniSTS:43221

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 ATP-dependent diacylglycerol kinase activity	IEA Inferred from Electronic Annotation more info
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 acylglycerol kinase activity	IEA Inferred from Electronic Annotation more info
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 kinase activity	IEA Inferred from Electronic Annotation more info
enables lipid kinase activity	IEA Inferred from Electronic Annotation more info
enables nucleotide binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sphingosine kinase activity	IBA Inferred from Biological aspect of Ancestor more info
enables transferase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in ceramide biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within ceramide biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in glycerolipid metabolic process	IEA Inferred from Electronic Annotation more info
involved_in lipid metabolic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within 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
involved_in sphingosine biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info

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
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	TAS Traceable Author Statement more info
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in mitochondrial inner membrane	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial inner membrane	IEA Inferred from Electronic Annotation more info
located_in mitochondrial intermembrane space	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial intermembrane space	IEA Inferred from Electronic Annotation more info
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 more info	PubMed
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	IDA Inferred from Direct Assay more info
located_in mitochondrion	IEA Inferred from Electronic Annotation 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

EC 2.7.1.107

EC 2.7.1.138

EC 2.7.1.94

NP_060708.1

EC 2.7.1.107

EC 2.7.1.138

EC 2.7.1.94

XP_011514699.1

EC 2.7.1.107

EC 2.7.1.138

EC 2.7.1.94

XP_024302603.1

EC 2.7.1.107

EC 2.7.1.138

EC 2.7.1.94

XP_054214618.1

EC 2.7.1.107

EC 2.7.1.138

EC 2.7.1.94

XP_054214619.1

EC 2.7.1.107

EC 2.7.1.138

EC 2.7.1.94

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

NG_032079.1 RefSeqGene

Range

5133..108967

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1251

mRNA and Protein(s)

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
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

NC_000007.14 Reference GRCh38.p14 Primary Assembly

Range

141551410..141655244

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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

NW_003315922.2 Reference GRCh38.p14 ALT_REF_LOCI_1

Range

476..21836

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060931.1 Alternate T2T-CHM13v2.0

Range

142867231..142971096

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/Swiss-Prot

Q53H12, Q75KN1, Q96GC3, Q9NP48

UniProtKB/TrEMBL

A4D1U5, E9PC15
XM_054358643.1 → XP_054214618.1 acylglycerol kinase, mitochondrial isoform X1

UniProtKB/Swiss-Prot

Q53H12, Q75KN1, Q96GC3, Q9NP48

UniProtKB/TrEMBL

A4D1U5, E9PC15