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] See more...

Aliases for AGK Gene

Aliases for AGK Gene

  • Acylglycerol Kinase 2 3 5
  • Multiple Substrate Lipid Kinase 2 3 4
  • Acylglycerol Kinase, Mitochondrial 3 4
  • Multi-Substrate Lipid Kinase 3 4
  • HsMuLK 3 4
  • MULK 3 4
  • HAGK 3 4
  • EC 2.7.1.107 4
  • EC 2.7.1.138 4
  • EC 2.7.1.94 4
  • FLJ10842 2
  • CTRCT38 3
  • MTDPS10 3
  • CATC5 3
  • MuLK 4
  • AGK 5

External Ids for AGK Gene

Previous HGNC Symbols for AGK Gene

  • MULK

Previous GeneCards Identifiers for AGK Gene

  • GC07P140899
  • GC07P141250
  • GC07P135547

Summaries for AGK Gene

Entrez Gene Summary for AGK Gene

  • 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]

GeneCards Summary for AGK Gene

AGK (Acylglycerol Kinase) is a Protein Coding gene. Diseases associated with AGK include Sengers Syndrome and Cataract 38. Among its related pathways are Glycerolipid metabolism and Metabolism. Gene Ontology (GO) annotations related to this gene include NAD+ kinase activity and lipid kinase activity. An important paralog of this gene is CERK.

UniProtKB/Swiss-Prot Summary for AGK Gene

  • Lipid kinase that can phosphorylate both monoacylglycerol and diacylglycerol to form lysophosphatidic acid (LPA) and phosphatidic acid (PA), respectively (PubMed:15939762). Does not phosphorylate sphingosine (PubMed:15939762). Phosphorylates ceramide (By similarity). Phosphorylates 1,2-dioleoylglycerol more rapidly than 2,3-dioleoylglycerol (By similarity). Independently of its lipid kinase activity, acts as a component of the TIM22 complex (PubMed:28712724, PubMed:28712726). The TIM22 complex mediates the import and insertion of multi-pass transmembrane proteins into the mitochondrial inner membrane by forming a twin-pore translocase that uses the membrane potential as the external driving force (PubMed:28712724, PubMed:28712726). In the TIM22 complex, required for the import of a subset of metabolite carriers into mitochondria, such as ANT1/SLC25A4 and SLC25A24, while it is not required for the import of TIMM23 (PubMed:28712724). Overexpression increases the formation and secretion of LPA, resulting in transactivation of EGFR and activation of the downstream MAPK signaling pathway, leading to increased cell growth (PubMed:15939762).

Gene Wiki entry for AGK Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AGK Gene

Genomics for AGK Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for AGK Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AGK on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for AGK

Top Transcription factor binding sites by QIAGEN in the AGK gene promoter:
  • AML1a
  • AREB6
  • Evi-1
  • GATA-1
  • GATA-2
  • GATA-3
  • HNF-3beta
  • Lmo2
  • oct-B3
  • Pbx1a

Genomic Locations for AGK Gene

Genomic Locations for AGK Gene
chr7:141,551,278-141,662,153
(GRCh38/hg38)
Size:
110,876 bases
Orientation:
Plus strand
chr7:141,250,989-141,355,044
(GRCh37/hg19)
Size:
104,056 bases
Orientation:
Plus strand

Genomic View for AGK Gene

Genes around AGK on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AGK Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AGK Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AGK Gene

Proteins for AGK Gene

  • Protein details for AGK Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q53H12-AGK_HUMAN
    Recommended name:
    Acylglycerol kinase, mitochondrial
    Protein Accession:
    Q53H12
    Secondary Accessions:
    • Q75KN1
    • Q96GC3
    • Q9NP48

    Protein attributes for AGK Gene

    Size:
    422 amino acids
    Molecular mass:
    47137 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Component of the TIM22 complex, which core is composed of TIMM22, associated with TIMM10 (TIMM10A and/or TIMM10B), TIMM9, AGK and TIMM29 (PubMed:28712724, PubMed:28712726).

    Alternative splice isoforms for AGK Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AGK Gene

Post-translational modifications for AGK Gene

  • Ubiquitination at Lys6 and Lys223
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for AGK Gene

Domains & Families for AGK Gene

Gene Families for AGK Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for AGK Gene

Suggested Antigen Peptide Sequences for AGK Gene

GenScript: Design optimal peptide antigens:
  • Multiple substrate lipid kinase (AGK_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q53H12

UniProtKB/Swiss-Prot:

AGK_HUMAN :
  • Belongs to the AGK family.
Family:
  • Belongs to the AGK family.
genes like me logo Genes that share domains with AGK: view

Function for AGK Gene

Molecular function for AGK Gene

UniProtKB/Swiss-Prot Function:
Lipid kinase that can phosphorylate both monoacylglycerol and diacylglycerol to form lysophosphatidic acid (LPA) and phosphatidic acid (PA), respectively (PubMed:15939762). Does not phosphorylate sphingosine (PubMed:15939762). Phosphorylates ceramide (By similarity). Phosphorylates 1,2-dioleoylglycerol more rapidly than 2,3-dioleoylglycerol (By similarity). Independently of its lipid kinase activity, acts as a component of the TIM22 complex (PubMed:28712724, PubMed:28712726). The TIM22 complex mediates the import and insertion of multi-pass transmembrane proteins into the mitochondrial inner membrane by forming a twin-pore translocase that uses the membrane potential as the external driving force (PubMed:28712724, PubMed:28712726). In the TIM22 complex, required for the import of a subset of metabolite carriers into mitochondria, such as ANT1/SLC25A4 and SLC25A24, while it is not required for the import of TIMM23 (PubMed:28712724). Overexpression increases the formation and secretion of LPA, resulting in transactivation of EGFR and activation of the downstream MAPK signaling pathway, leading to increased cell growth (PubMed:15939762).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a monoacylglycerol + ATP = ADP + H(+) + monoacyl-sn-glycero-3-phosphate; Xref=Rhea:RHEA:19293, ChEBI:CHEBI:15378, ChEBI:CHEBI:17408, ChEBI:CHEBI:30616, ChEBI:CHEBI:77589, ChEBI:CHEBI:456216; EC=2.7.1.94; Evidence={ECO:0000269|PubMed:15939762};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a 1,2-diacyl-sn-glycerol + ATP = a 1,2-diacyl-sn-glycero-3-phosphate + ADP + H(+); Xref=Rhea:RHEA:10272, ChEBI:CHEBI:15378, ChEBI:CHEBI:17815, ChEBI:CHEBI:30616, ChEBI:CHEBI:58608, ChEBI:CHEBI:456216; EC=2.7.1.107; Evidence={ECO:0000269|PubMed:15939762};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=an N-acylsphing-4-enine + ATP = ADP + H(+) + N-acylsphing-4-enine 1-phosphate; Xref=Rhea:RHEA:17929, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:52639, ChEBI:CHEBI:57674, ChEBI:CHEBI:456216; EC=2.7.1.138; Evidence={ECO:0000250|UniProtKB:Q9ESW4};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1-(9Z-octadecenoyl)-sn-glycerol + ATP = 1-(9Z-octadecenoyl)-sn-glycero-3-phosphate + ADP + H(+); Xref=Rhea:RHEA:41079, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:74544, ChEBI:CHEBI:75757, ChEBI:CHEBI:456216; Evidence={ECO:0000269|PubMed:15939762};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1,2-di-(9Z-octadecenoyl)-sn-glycerol + ATP = 1,2-di-(9Z-octadecenoyl)-sn-glycero-3-phosphate + ADP + H(+); Xref=Rhea:RHEA:40327, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:52333, ChEBI:CHEBI:74546, ChEBI:CHEBI:456216; Evidence={ECO:0000269|PubMed:15939762};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a 1-acyl-sn-glycerol + ATP = a 1-acyl-sn-glycero-3-phosphate + ADP + H(+); Xref=Rhea:RHEA:33747, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:57970, ChEBI:CHEBI:64683, ChEBI:CHEBI:456216; Evidence={ECO:0000269|PubMed:15939762};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1-hexadecanoyl-sn-glycerol + ATP = 1-hexadecanoyl-sn-glycero-3-phosphate + ADP + H(+); Xref=Rhea:RHEA:43308, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:57518, ChEBI:CHEBI:75542, ChEBI:CHEBI:456216; Evidence={ECO:0000269|PubMed:15939762};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=2-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-glycerol + ATP = 2-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-sn-glycero-3-phosphate + ADP + H(+); Xref=Rhea:RHEA:43316, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:52392, ChEBI:CHEBI:78209, ChEBI:CHEBI:456216; Evidence={ECO:0000269|PubMed:15939762};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-sn-glycerol + ATP = 1-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-sn-glycero-3-phosphate + ADP + H(+); Xref=Rhea:RHEA:43328, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:34071, ChEBI:CHEBI:74938, ChEBI:CHEBI:456216; Evidence={ECO:0000250|UniProtKB:Q9ESW4};.
UniProtKB/Swiss-Prot Induction:
Overexpressed in prostate cancer, suggesting that it may play a role in initiation and progression of prostate cancer, processes in which lysophosphatidic acid (LPA) plays key roles.

Enzyme Numbers (IUBMB) for AGK Gene

Phenotypes From GWAS Catalog for AGK Gene

Gene Ontology (GO) - Molecular Function for AGK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0001727 lipid kinase activity IEA,IBA 21873635
GO:0001729 ceramide kinase activity IEA,IBA 21873635
GO:0003951 NAD+ kinase activity IEA --
GO:0004143 diacylglycerol kinase activity IEA,IDA 15939762
genes like me logo Genes that share ontologies with AGK: view
genes like me logo Genes that share phenotypes with AGK: view

Human Phenotype Ontology for AGK Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AGK

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for AGK Gene

Localization for AGK Gene

Subcellular locations from UniProtKB/Swiss-Prot for AGK Gene

Mitochondrion inner membrane. Peripheral membrane protein. Mitochondrion intermembrane space. Note=Localizes in the mitochondrion intermembrane space, where it associates with the inner membrane (PubMed:28712724). It is unclear whether the N-terminal hydrophobic region forms a transmembrane region or associates with the membrane without crossing it (PubMed:28712724, PubMed:28712726). {ECO:0000269 PubMed:28712724, ECO:0000269 PubMed:28712726}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for AGK gene
Compartment Confidence
mitochondrion 5
cytosol 4
nucleus 2
plasma membrane 1
extracellular 1
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (3)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for AGK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA 21873635
GO:0005739 mitochondrion IEA,IDA --
GO:0005741 mitochondrial outer membrane TAS --
GO:0005743 mitochondrial inner membrane IEA,IDA 28712724
GO:0005758 mitochondrial intermembrane space IEA,IDA 28712724
genes like me logo Genes that share ontologies with AGK: view

Pathways & Interactions for AGK Gene

genes like me logo Genes that share pathways with AGK: view

UniProtKB/Swiss-Prot Q53H12-AGK_HUMAN

  • Pathway: Lipid metabolism; glycerolipid metabolism.

Interacting Proteins for AGK Gene

Gene Ontology (GO) - Biological Process for AGK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006665 sphingolipid metabolic process IBA 21873635
GO:0016310 phosphorylation IEA,IBA 21873635
GO:0045039 protein import into mitochondrial inner membrane IDA 28712724
GO:0046474 glycerophospholipid biosynthetic process TAS --
GO:0046486 glycerolipid metabolic process IEA --
genes like me logo Genes that share ontologies with AGK: view

No data available for SIGNOR curated interactions for AGK Gene

Drugs & Compounds for AGK Gene

(15) Drugs for AGK Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Magnesium Approved, Experimental, Investigational Pharma 0
ATP Investigational Nutra Agonist, Activator, Partial agonist, Antagonist, Full agonist, Gating inhibitor, Pore Blocker, Potentiation 0

(111) Additional Compounds for AGK Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist 58-64-0
2-Arachidonylglycerol
  • 2-(5Z,8Z,11Z,14Z-Eicosatetraenoyl)-glycerol
  • 2-AG
  • 2-Ara-GL
  • 2-Arachidonoyl-glycerol
  • 2-Arachidonyl-glycerol
53847-30-6
Diglycerides Group A
  • (2R)-2-Hydroxy-3-(pentadecanoyloxy)propyl (5Z,8Z,11Z)-icosa-5,8,11,14-tetraenoic acid
  • DG(15:0/0:0/20:4n6)
  • Diacylglycerol(15:0/0:0/20:4)
  • DG(35:4)
  • DAG(15:0/0:0/20:4)
Diglycerides Group B
  • 1-Myristoyl-2-eicosadienoyl-sn-glycerol
  • DAG(14:0/20:2)
  • DAG(14:0/20:2N6)
  • DAG(14:0/20:2W6)
  • DAG(34:2)
Diglycerides Group C
  • 1-(9Z-Octadecenoyl)-2-hexadecanoyl-sn-glycerol
  • 1-O-Oleoyl-2-O-palmitoyl-sn-glycerol
  • DG (18:1(9Z)/16:0/0:0)
  • DG(18:1/16:0)
  • Diglyceride
genes like me logo Genes that share compounds with AGK: view

Transcripts for AGK Gene

mRNA/cDNA for AGK Gene

2 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
25 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AGK

Alternative Splicing Database (ASD) splice patterns (SP) for AGK Gene

No ASD Table

Relevant External Links for AGK Gene

GeneLoc Exon Structure for
AGK

Expression for AGK Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for AGK Gene

Protein differential expression in normal tissues from HIPED for AGK Gene

This gene is overexpressed in Bone (18.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for AGK Gene



Protein tissue co-expression partners for AGK Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for AGK

SOURCE GeneReport for Unigene cluster for AGK Gene:

Hs.743318

mRNA Expression by UniProt/SwissProt for AGK Gene:

Q53H12-AGK_HUMAN
Tissue specificity: Highly expressed in muscle, heart, kidney and brain.

Evidence on tissue expression from TISSUES for AGK Gene

  • Liver(4.4)
  • Gall bladder(4.2)
  • Nervous system(3.8)
  • Blood(2.2)
  • Muscle(2.2)
  • Heart(2.2)
  • Skin(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for AGK Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • nervous
  • respiratory
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • eye
  • head
Thorax:
  • heart
  • heart valve
  • lung
General:
  • peripheral nervous system
genes like me logo Genes that share expression patterns with AGK: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for AGK Gene

Orthologs for AGK Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for AGK Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia AGK 30 31
  • 99.61 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia AGK 30 31
  • 91.13 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia AGK 30 31
  • 89.68 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Agk 30 17 31
  • 87.73 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Agk 30
  • 86.94 (n)
Oppossum
(Monodelphis domestica)
Mammalia AGK 31
  • 82 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia AGK 31
  • 73 (a)
OneToOne
Chicken
(Gallus gallus)
Aves AGK 30 31
  • 75 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia AGK 31
  • 72 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia agk 30
  • 68.98 (n)
Str.15995 30
African clawed frog
(Xenopus laevis)
Amphibia MGC52920 30
Zebrafish
(Danio rerio)
Actinopterygii agk 30 31
  • 60.42 (n)
OneToOne
wufi38e09 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005825 30
  • 44.02 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Mulk 30 31
  • 43.95 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea F52C9.3 31
  • 21 (a)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes LCB4 31
  • 11 (a)
ManyToMany
LCB5 31
  • 10 (a)
ManyToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 32 (a)
OneToOne
Species where no ortholog for AGK was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for AGK Gene

ENSEMBL:
Gene Tree for AGK (if available)
TreeFam:
Gene Tree for AGK (if available)
Aminode:
Evolutionary constrained regions (ECRs) for AGK: view image

Paralogs for AGK Gene

Paralogs for AGK Gene

(1) SIMAP similar genes for AGK Gene using alignment to 4 proteins:

  • AGK_HUMAN
  • E9PC15_HUMAN
  • E9PG39_HUMAN
  • F8WDD1_HUMAN

Pseudogenes.org Pseudogenes for AGK Gene

genes like me logo Genes that share paralogs with AGK: view

Variants for AGK Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for AGK Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
617460 Likely Pathogenic: Sengers syndrome 141,652,869(+) A/AG FRAMESHIFT_VARIANT
661404 Uncertain Significance: Sengers syndrome; Cataract, autosomal recessive congenital 5 141,649,321(+) TTATAAC/T INFRAME_DELETION
669460 Benign: not provided 141,637,174(+) G/A INTRON_VARIANT
669749 Benign: not provided 141,555,184(+) A/G INTRON_VARIANT
669756 Benign: not provided 141,622,012(+) A/T INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for AGK Gene

Structural Variations from Database of Genomic Variants (DGV) for AGK Gene

Variant ID Type Subtype PubMed ID
esv2666672 CNV deletion 23128226
esv3303845 CNV mobile element insertion 20981092
esv34135 CNV loss 18971310
esv3421680 CNV insertion 20981092
esv3542534 CNV deletion 23714750
esv3615256 CNV loss 21293372
nsv1034207 CNV loss 25217958
nsv510118 OTHER sequence alteration 20534489

Variation tolerance for AGK Gene

Residual Variation Intolerance Score: 72.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.21; 39.86% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for AGK Gene

Human Gene Mutation Database (HGMD)
AGK
SNPedia medical, phenotypic, and genealogical associations of SNPs for
AGK

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AGK Gene

Disorders for AGK Gene

MalaCards: The human disease database

(19) MalaCards diseases for AGK Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
sengers syndrome
  • mitochondrial dna depletion syndrome 10 ; mtdps10
cataract 38
  • ctrct38
trichohepatoenteric syndrome 1
  • thes1
cataract 44
  • ctrct44
mitochondrial dna depletion syndrome
  • mtdna depletion syndrome
- elite association - COSMIC cancer census association via MalaCards
Search AGK in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

AGK_HUMAN
  • Mitochondrial DNA depletion syndrome 10 (MTDPS10) [MIM:212350]: An autosomal recessive mitochondrial disorder characterized by congenital cataracts, hypertrophic cardiomyopathy, skeletal myopathy, exercise intolerance, and lactic acidosis. Mental development is normal, but affected individuals may die early from cardiomyopathy. {ECO:0000269 PubMed:22277967, ECO:0000269 PubMed:22284826, ECO:0000269 PubMed:23266196, ECO:0000269 PubMed:25208612, ECO:0000269 PubMed:28712726}. Note=The disease is caused by mutations affecting the gene represented in this entry. The TIM22 complex and import of proteins into mitochondrion are affected in patients suffering of MTDPS10 (PubMed:28712726). {ECO:0000269 PubMed:28712726}.
  • Cataract 38 (CTRCT38) [MIM:614691]: An opacification of the crystalline lens of the eye becoming evident at birth. It frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. {ECO:0000269 PubMed:22415731}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for AGK

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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No data available for Genatlas for AGK Gene

Publications for AGK Gene

  1. A novel acylglycerol kinase that produces lysophosphatidic acid modulates cross talk with EGFR in prostate cancer cells. (PMID: 15939762) Bektas M … Spiegel S (The Journal of cell biology 2005) 2 3 4 23
  2. MuLK, a eukaryotic multi-substrate lipid kinase. (PMID: 15252046) Waggoner DW … Bajjalieh SM (The Journal of biological chemistry 2004) 2 3 23
  3. Sengers Syndrome-Associated Mitochondrial Acylglycerol Kinase Is a Subunit of the Human TIM22 Protein Import Complex. (PMID: 28712726) Kang Y … Stojanovski D (Molecular cell 2017) 3 4
  4. Acylglycerol Kinase Mutated in Sengers Syndrome Is a Subunit of the TIM22 Protein Translocase in Mitochondria. (PMID: 28712724) Vukotic M … Langer T (Molecular cell 2017) 3 4
  5. Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients. (PMID: 25208612) Haghighi A … Prokisch H (Orphanet journal of rare diseases 2014) 3 4

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