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Aliases for AGK Gene

Aliases for AGK Gene

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

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, Autosomal Recessive. Among its related pathways are Oncogenic MAPK signaling and Metabolism. 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 for AGK Gene

  • Lipid kinase that can phosphorylate both monoacylglycerol and diacylglycerol to form lysophosphatidic acid (LPA) and phosphatidic acid (PA), respectively. Does not phosphorylate sphingosine. 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.

Gene Wiki entry for AGK Gene

Additional gene information for AGK Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AGK Gene

Genomics for AGK Gene

Regulatory Elements for AGK Gene

Enhancers for AGK Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07H141583 1.4 FANTOM5 Ensembl ENCODE 16.3 +34.5 34470 4 SOX13 FOXA2 TBL1XR1 RELA ETS1 EED SCRT2 FOS ATF7 RUNX3 WEE2-AS1 AGK KIAA1147 ENSG00000270157 TAS2R38 TAS2R5 ENSG00000261570 ENSG00000244701
GH07H141649 1.3 Ensembl ENCODE dbSUPER 10.8 +98.9 98857 1 CTCF MXI1 PKNOX1 MAX SIN3A BMI1 RAD21 RFX5 GATA3 ZNF143 KIAA1147 WEE2 AGK ENSG00000244701 ENSG00000261570
GH07H141654 1.1 ENCODE dbSUPER 10.2 +103.5 103533 0 RB1 NFXL1 RAD21 ZNF143 RCOR1 RUNX3 MIXL1 THAP11 ZNF202 ZNF654 TAS2R6P TAS2R5 KIAA1147 WEE2 AGK WEE2-AS1 ENSG00000244701 ENSG00000261570
GH07H140695 1.1 ENCODE 10.2 -854.2 -854242 2 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 CBX5 NDUFB2 SLC37A3 ENSG00000270157 AGK TMEM178B ADCK2 NDUFB2-AS1
GH07H141071 1 ENCODE 10.2 -479.1 -479124 1 ARNT FEZF1 GLI4 ZNF2 GLIS2 KLF7 YY2 REST ZNF518A ZNF585B TMEM178B WEE2-AS1 AGK TAS2R5 LOC105375537
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around AGK on UCSC Golden Path with GeneCards custom track

Promoters for AGK Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000219171 511 1401 HDGF PKNOX1 MLX ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2

Genomic Location for AGK Gene

Chromosome:
7
Start:
141,551,189 bp from pter
End:
141,655,244 bp from pter
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:
    No Data Available
    Miscellaneous:
    • Overexpressed in prostate cancer, suggesting that it may play a role in initiation and progression of prostate cancer, processes in which LPA plays key roles.

    Alternative splice isoforms for AGK Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AGK Gene

Post-translational modifications for AGK Gene

  • Ubiquitination at posLast=223223
  • 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
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for AGK Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot for AGK Gene

Function for AGK Gene

Molecular function for AGK Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + acylglycerol = ADP + acyl-sn-glycerol 3-phosphate.
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + 1,2-diacyl-sn-glycerol = ADP + 1,2-diacyl-sn-glycerol 3-phosphate.
UniProtKB/Swiss-Prot Function:
Lipid kinase that can phosphorylate both monoacylglycerol and diacylglycerol to form lysophosphatidic acid (LPA) and phosphatidic acid (PA), respectively. Does not phosphorylate sphingosine. 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.

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:0001727 lipid kinase activity IEA --
GO:0001729 ceramide kinase activity IEA --
GO:0003951 NAD+ kinase activity IEA --
GO:0004143 diacylglycerol kinase activity IEA --
GO:0005524 ATP binding IEA --
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

Clone Products

  • Addgene plasmids for AGK
  • Applied Biological Materials Clones for AGK
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 membrane.

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 5
peroxisome 1
nucleus 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:0005739 mitochondrion IEA,IDA --
GO:0005741 mitochondrial outer membrane TAS --
GO:0005743 mitochondrial inner membrane IDA 28712724
GO:0005758 mitochondrial intermembrane space IDA 28712724
GO:0005829 cytosol TAS --
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.

Gene Ontology (GO) - Biological Process for AGK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008152 metabolic process IEA --
GO:0016310 phosphorylation IEA --
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Magnesium Nutra 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
2-Arachidonylglycerol
  • (5Z,8Z,11Z,14Z)-2-hydroxy-1-(hydroxymethyl)ethyl ester 5,8,11,14-Eicosatetraenoate
  • (5Z,8Z,11Z,14Z)-2-hydroxy-1-(hydroxymethyl)ethyl ester 5,8,11,14-Eicosatetraenoic acid
  • (all-Z)-2-hydroxy-1-(hydroxymethyl)ethyl ester 5,8,11,14-Eicosatetraenoate
  • (all-Z)-2-hydroxy-1-(hydroxymethyl)ethyl ester 5,8,11,14-Eicosatetraenoic acid
  • 1-Monoacylglyceride
53847-30-6
Diglycerides Group A
  • 1,2-Dimyristoyl-rac-glycerol
  • DAG(14:0/14:0)
  • DAG(28:0)
  • DG(14:0/14:0)
  • DG(28:0)
Diglycerides Group B
  • 1-Palmitoleoyl-2-arachidonyl-sn-glycerol
  • DAG(16:1/20:0)
  • DAG(16:1n7/20:0)
  • DAG(16:1w7/20:0)
  • DAG(36:1)
Diglycerides Group C
  • 1-Myristoyl-3-behenoyl-sn-glycerol
  • 1-Tetradecanoyl-3-docosanoyl-sn-glycerol
  • DAG(14:0/0:0/22:0)
  • DAG(36:0)
  • DG(36:0)
Diglycerides Group D
  • 1,2-Didocosahexaenoyl-rac-glycerol
  • DAG(22:6/22:6)
  • DAG(22:6n3/22:6n3)
  • DAG(22:6w3/22:6w3)
  • DAG(44:12)
genes like me logo Genes that share compounds with AGK: view

Transcripts for AGK Gene

Unigene Clusters for AGK Gene

Acylglycerol kinase:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for AGK
  • Applied Biological Materials Clones for AGK
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

No ASD Table

Relevant External Links for AGK Gene

GeneLoc Exon Structure for
AGK
ECgene alternative splicing isoforms for
AGK

Expression for AGK Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for AGK Gene



Protein tissue co-expression partners for AGK Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of AGK Gene:

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

  • Gall bladder(4.2)
  • Liver(4.2)
  • Nervous system(3.3)

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

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • nervous
  • respiratory
  • skeletal muscle
Organs:
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

Primer Products

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 34 33
  • 99.61 (n)
OneToOne
dog
(Canis familiaris)
Mammalia AGK 34 33
  • 91.13 (n)
OneToOne
cow
(Bos Taurus)
Mammalia AGK 34 33
  • 89.68 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Agk 16 34 33
  • 87.73 (n)
rat
(Rattus norvegicus)
Mammalia Agk 33
  • 86.94 (n)
oppossum
(Monodelphis domestica)
Mammalia AGK 34
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AGK 34
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves AGK 33 34
  • 75 (n)
lizard
(Anolis carolinensis)
Reptilia AGK 34
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia agk 33
  • 68.98 (n)
Str.15995 33
African clawed frog
(Xenopus laevis)
Amphibia MGC52920 33
zebrafish
(Danio rerio)
Actinopterygii agk 34 33
  • 60.42 (n)
OneToOne
wufi38e09 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005825 33
  • 44.02 (n)
fruit fly
(Drosophila melanogaster)
Insecta Mulk 33 34
  • 43.95 (n)
worm
(Caenorhabditis elegans)
Secernentea F52C9.3 34
  • 21 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes LCB4 34
  • 11 (a)
ManyToMany
LCB5 34
  • 10 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 32 (a)
OneToOne
Species where no ortholog for AGK was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for AGK Gene

Paralogs for AGK Gene

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

Pseudogenes.org Pseudogenes for AGK Gene

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

Variants for AGK Gene

Sequence variations from dbSNP and Humsavar for AGK Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs387907024 Pathogenic 141,615,564(+) AAGTC(C/T)AGTAG reference, stop-gained
rs746709222 Pathogenic 141,614,164(+) TTCTT(C/T)GACGA reference, stop-gained
rs766413410 Pathogenic 141,615,468(+) CCCCC(A/C/G/T)AGGCT intron-variant
rs863223895 Pathogenic 141,555,469(+) AAGAT(A/C/G)ACGGT reference, missense
rs886041835 Pathogenic 141,593,145(+) TGATA(G/T)TGATA splice-acceptor-variant

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)

Relevant External Links for AGK Gene

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

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

Disorders for AGK Gene

MalaCards: The human disease database

(7) MalaCards diseases for AGK Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
sengers syndrome
  • mitochondrial dna depletion syndrome 10
cataract 38, autosomal recessive
  • cataract 38
congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome
  • sengers syndrome
cataract 44
  • ctrct44
prostate cancer
  • prostate cancer, hereditary, 5
- 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
  • 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.
  • 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}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for AGK

Genetic Association Database (GAD)
AGK
Human Genome Epidemiology (HuGE) Navigator
AGK
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
AGK
genes like me logo Genes that share disorders with AGK: view

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 22 60
  2. MuLK, a eukaryotic multi-substrate lipid kinase. (PMID: 15252046) Waggoner DW … Bajjalieh SM (The Journal of biological chemistry 2004) 2 3 22 60
  3. Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome. (PMID: 22284826) Mayr JA … Prokisch H (American journal of human genetics 2012) 3 4 60
  4. Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing. (PMID: 22277967) Calvo SE … Mootha VK (Science translational medicine 2012) 3 4 60
  5. Identification of a truncation mutation of acylglycerol kinase (AGK) gene in a novel autosomal recessive cataract locus. (PMID: 22415731) Aldahmesh MA … Alkuraya FS (Human mutation 2012) 3 4 60

Products for AGK Gene

  • Addgene plasmids for AGK

Sources for AGK Gene

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