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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
External Ids for AGK Gene
- HGNC: 21869
- Entrez Gene: 55750
- Ensembl: ENSG00000006530
- OMIM: 610345
- UniProtKB: Q53H12
Previous HGNC Symbols for AGK Gene
- MULK
Previous GeneCards Identifiers for AGK Gene
- GC07P140899
- GC07P141250
- GC07P135547
Summaries 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).
Additional gene information for AGK Gene
- HGNC(21869)
- Entrez Gene(55750)
- Ensembl(ENSG00000006530)
- OMIM(610345)
- UniProtKB(Q53H12)
- Open Targets Platform(ENSG00000006530)
- Monarch Initiative
- Search for AGK at DataMed
- Search for AGK at HumanCyc
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:
-
- 7q34 by HGNC
- 7q34 by Entrez Gene
- 7q34 by Ensembl
AGK Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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).
Protein Expression for AGK Gene
Post-translational modifications for AGK Gene
Other Protein References for AGK Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- G Biosciences Immunotag™ AGK Antibody
- Novus Biologicals Antibodies for AGK
- Invitrogen Antibodies for AGK (AFLGC-AGK)
-
Biorbyt antibodies for AGK
-
Boster Bio Antibodies for AGK
-
Santa Cruz Biotechnology (SCBT) Antibodies for AGK
Protein Products
-
OriGene Purified Proteins for AGK
- Search Origene for MassSpec and Protein Over-expression Lysates for AGK
- Origene Custom Protein Services for AGK
-
Abcam proteins for AGK
Assay Products
- antibodies-online: Show 5 available Acylglycerol Kinase Elisa Kits ranked by validation data
- Compare Top Acylglycerol Kinase Elisa Kits
-
Quality Products:
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
- InterPro:
- ProtoNet:
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- Family:
-
- Belongs to the AGK family.
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
| 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 |
Phenotypes for AGK Gene
- MGI mutant phenotypes for AGK:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for AGK:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for AGK - Select products 50% OFF >
- * AGK CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for AGK
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for AGK
-
Santa Cruz Biotechnology (SCBT) CRISPR for AGK
miRNA for AGK Gene
- miRTarBase miRNAs that target AGK
-
- hsa-miR-7-5p (MIRT025890)
- hsa-miR-16-5p (MIRT031554)
- hsa-miR-484 (MIRT042001)
- hsa-miR-378a-3p (MIRT043923)
- hsa-miR-526b-5p (MIRT449832)
- hsa-miR-3682-3p (MIRT449833)
- hsa-miR-5571-5p (MIRT449834)
- hsa-miR-6734-5p (MIRT529289)
- hsa-miR-629-3p (MIRT529290)
- hsa-miR-6834-5p (MIRT529291)
- hsa-miR-1226-5p (MIRT529292)
- hsa-miR-519e-5p (MIRT529293)
- hsa-miR-515-5p (MIRT529294)
- hsa-miR-582-5p (MIRT529295)
- hsa-miR-6133 (MIRT529296)
- hsa-miR-6130 (MIRT529297)
- hsa-miR-6129 (MIRT529298)
- hsa-miR-6127 (MIRT529299)
- hsa-miR-4510 (MIRT529300)
- hsa-miR-6875-5p (MIRT529301)
- hsa-miR-4419a (MIRT529302)
- hsa-miR-5695 (MIRT529303)
- hsa-miR-3126-5p (MIRT529304)
- hsa-miR-519d-5p (MIRT529305)
- hsa-miR-3691-3p (MIRT529306)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for AGK
- Browse OriGene Inhibitory RNA Products For AGK
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AGK
Clone Products
- Applied Biological Materials (abm): Clones for AGK - Select products 50% OFF >
- * AGK as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for AGK
- Addgene plasmids for AGK
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for AGK
Cell Line Products
-
Horizon Cell Lines 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}.
| Compartment | Confidence |
|---|---|
| mitochondrion | 5 |
| cytosol | 4 |
| nucleus | 2 |
| plasma membrane | 1 |
| extracellular | 1 |
| cytoskeleton | 1 |
| peroxisome | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| lysosome | 1 |
- Mitochondria (3)
- Vesicles (2)
| 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 |
Pathways & Interactions for AGK Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Metabolism |
.40
|
|
| 2 | HIV Life Cycle |
.45
|
|
| 3 | Fatty Acyl-CoA Biosynthesis | ||
| 4 | Oncogenic MAPK signaling | ||
| 5 | Glycerolipid metabolism | ||
Pathways by source for AGK Gene
9 Reactome pathways for AGK Gene
2 KEGG pathways for AGK Gene
UniProtKB/Swiss-Prot Q53H12-AGK_HUMAN
- Pathway: Lipid metabolism; glycerolipid metabolism.
| 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 | -- |
No data available for SIGNOR curated interactions for AGK Gene
Drugs & Compounds for AGK Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| ADP |
|
Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist | 58-64-0 | |||
| 2-Arachidonylglycerol |
|
53847-30-6 |
|
|||
| Diglycerides Group A |
|
|
||||
| Diglycerides Group B |
|
|
||||
| Diglycerides Group C |
|
|
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 :
-
- ENST00000473247 1550 nts (view in UCSC)
- ENST00000649365 3874 nts (view in UCSC)
- ENST00000649014 3707 nts (view in UCSC)
- ENST00000648489 1918 nts (view in UCSC)
- ENST00000650365 1301 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for AGK - Select products 50% OFF >
- * AGK CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for AGK
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for AGK
-
Santa Cruz Biotechnology (SCBT) CRISPR for AGK
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for AGK
- Browse OriGene Inhibitory RNA Products For AGK
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AGK
Clone Products
- Applied Biological Materials (abm): Clones for AGK - Select products 50% OFF >
- * AGK as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for AGK
- Addgene plasmids for AGK
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for AGK
Relevant External Links for AGK Gene
- GeneLoc Exon Structure for
- AGK
Expression 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
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for AGK
SOURCE GeneReport for Unigene cluster for AGK Gene:
Hs.743318mRNA 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
Primer Products
-
OriGene qPCR primer pairs for AGK
-
OriGene qPCR primer pairs and template standards for AGK
Gene Expression Assay 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | AGK 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | AGK 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | AGK 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Agk 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Agk 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | AGK 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | AGK 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | AGK 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | AGK 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | agk 30 |
|
||
| Str.15995 30 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | MGC52920 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | agk 30 31 |
|
OneToOne | |
| wufi38e09 30 |
|
||||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP005825 30 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | Mulk 30 31 |
|
OneToOne | |
| Worm (Caenorhabditis elegans) |
Secernentea | F52C9.3 31 |
|
OneToOne | |
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | LCB4 31 |
|
ManyToMany | |
| LCB5 31 |
|
ManyToMany | |||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
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
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 |
| 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 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AGK Gene
Disorders for AGK Gene
(19) MalaCards diseases for AGK Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| sengers syndrome |
|
|
| cataract 38 |
|
|
| trichohepatoenteric syndrome 1 |
|
|
| cataract 44 |
|
|
| mitochondrial dna depletion syndrome |
|
|
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
No data available for Genatlas for AGK Gene
Publications for AGK Gene
- 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
- MuLK, a eukaryotic multi-substrate lipid kinase. (PMID: 15252046) Waggoner DW … Bajjalieh SM (The Journal of biological chemistry 2004) 2 3 23
- 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
- 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
- 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
ExternalLinks
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