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 HIV Life Cycle and Glycerolipid 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 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). 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 mitochtondria, 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
- Monarch Initiative
- Search for AGK at DataMed
- Search for AGK at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AGK Gene
Genomics for AGK Gene
GeneHancer (GH) Regulatory Elements for AGK Gene
Promoters and enhancers for AGK Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around AGK on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Locations for AGK Gene
Genomic Locations for AGK Gene
- chr7:141,551,189-141,655,244
- (GRCh38/hg38)
- Size:
- 104,056 bases
- Orientation:
- Plus strand
- chr7:141,250,989-141,355,044
- (GRCh37/hg19)
Genomic View for AGK Gene
Genes around AGK on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 7q34 by Entrez Gene
- 7q34 by HGNC
- 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
- Novus Biologicals Antibodies for AGK
- Invitrogen Antibodies for AGK
- GeneTex AGK Antibody 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
- Search GeneTex for Proteins for AGK
Assay Products
- antibodies-online: Search results for 4 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
- Predicted secreted proteins
Protein Domains for AGK Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for AGK Gene
- GenScript: Design optimal peptide antigens:
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). 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 mitochtondria, 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:
- 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 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: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 | -- |
Phenotypes for AGK Gene
- GenomeRNAi human phenotypes for AGK:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for AGK
-
CRISPR Products
-
OriGene CRISPR knockouts for AGK
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- Applied Biological Materials CRISPR for AGK
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for AGK
- GenScript: Design CRISPR guide RNA sequences 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
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- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AGK
Clone Products
- Sino Biological Human cDNA Clone for AGK
- VectorBuilder custom plasmid, inducible vectors for AGK
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for AGK
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for AGK
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for AGK
- genomics-online: cdna clones - Search results for 117 available Acylglycerol Kinase gene related products
- Overview of 117 available Acylglycerol Kinase gene related products
- orf clones - Search results for 117 available Acylglycerol Kinase gene related products
- Overview of 117 available Acylglycerol Kinase gene related products
- Applied Biological Materials Clones for AGK
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
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 | 5 |
| peroxisome | 1 |
| nucleus | 1 |
- Mitochondria (3)
- Vesicles (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005739 | mitochondrion | IEA,IDA | -- |
| GO:0005741 | mitochondrial outer membrane | TAS | -- |
| GO:0005743 | mitochondrial inner membrane | IEA,IDA | 28712724 |
| GO:0005758 | mitochondrial intermembrane space | IDA,IEA | 28712724 |
| GO:0005829 | cytosol | TAS | -- |
Pathways & Interactions for AGK Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Metabolism |
.37
|
|
| 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.
Interacting Proteins for AGK Gene
GPS-Prot Interaction Network for AGK
| 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 | -- |
No data available for SIGNOR curated interactions for AGK Gene
Drugs & Compounds for AGK Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Magnesium | Approved | Nutra | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| 2-Arachidonylglycerol |
|
53847-30-6 |
|
|||
| Diglycerides Group A |
|
|
||||
| Diglycerides Group B |
|
|
||||
| Diglycerides Group C |
|
|
|
|||
| Diglycerides Group D |
|
|
Transcripts for AGK Gene
mRNA/cDNA for AGK Gene
- (155) Selected AceView cDNA sequences:
- (7) Additional mRNA sequences :
- (4) REFSEQ mRNAs :
- (11) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000355413 3849 bps (uc003vwi.3)
- ENST00000465241 988 bps (uc064iqq.1)
- ENST00000473247 1550 bps (uc064iql.1)
- ENST00000473884 568 bps (uc064iqn.1)
- ENST00000492693 1046 bps (uc064iqo.1)
CRISPR Products
-
OriGene CRISPR knockouts for AGK
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for AGK
- Applied Biological Materials CRISPR for AGK
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for AGK
- GenScript: Design CRISPR guide RNA sequences 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
- Sino Biological Human cDNA Clone for AGK
- VectorBuilder custom plasmid, inducible vectors for AGK
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for AGK
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for AGK
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for AGK
- genomics-online: cdna clones - Search results for 117 available Acylglycerol Kinase gene related products
- Overview of 117 available Acylglycerol Kinase gene related products
- orf clones - Search results for 117 available Acylglycerol Kinase gene related products
- Overview of 117 available Acylglycerol Kinase gene related products
- Applied Biological Materials Clones for AGK
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
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
NURSA nuclear receptor signaling pathways regulating expression of AGK Gene:
AGKSOURCE 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
- 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
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 and template standards for AGK
-
OriGene qPCR primer pairs 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 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | AGK 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | AGK 34 33 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Agk 16 34 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Agk 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | AGK 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | AGK 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | AGK 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | AGK 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | agk 33 |
|
||
| Str.15995 33 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | MGC52920 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | agk 34 33 |
|
OneToOne | |
| wufi38e09 33 |
|
||||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP005825 33 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | Mulk 34 33 |
|
OneToOne | |
| worm (Caenorhabditis elegans) |
Secernentea | F52C9.3 34 |
|
OneToOne | |
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | LCB4 34 |
|
ManyToMany | |
| LCB5 34 |
|
ManyToMany | |||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
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)
- Aminode:
- Evolutionary constrained regions (ECRs) for AGK: view image
Paralogs for AGK Gene
Variants for AGK Gene
| SNP ID | Clin | Chr 07 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs113085050 | uncertain-significance, likely-benign, Cataract and cardiomyopathy, Congenital cataract, not specified | 141,615,467(+) | C/A/G/T | intron_variant | |
| rs113599212 | uncertain-significance, Congenital cataract, Cataract and cardiomyopathy | 141,615,466(+) | C/A/G/T | intron_variant | |
| rs142069429 | uncertain-significance, not specified, Congenital cataract, Cataract and cardiomyopathy | 141,651,566(+) | C/T | coding_sequence_variant, genic_downstream_transcript_variant, missense_variant | |
| rs142235678 | uncertain-significance, Congenital cataract, Cataract and cardiomyopathy | 141,653,243(+) | C/ | 3_prime_UTR_variant, genic_downstream_transcript_variant | |
| rs143849281 | likely-benign, Cataract and cardiomyopathy, Congenital cataract | 141,653,386(+) | TGTTT/TGTTTGTTT | 3_prime_UTR_variant, genic_downstream_transcript_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
(5) MalaCards diseases for AGK Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| sengers syndrome |
|
|
| cataract 38 |
|
|
| congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome |
|
|
| cataract 44 |
|
|
| cataract |
|
|
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, 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}.
Additional Disease Information for AGK
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 22 58
- MuLK, a eukaryotic multi-substrate lipid kinase. (PMID: 15252046) Waggoner DW … Bajjalieh SM (The Journal of biological chemistry 2004) 2 3 22 58
- 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 58
- 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 58
- 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 58
Products for AGK Gene
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- Browse R&D Systems for Human Recombinant Proteins
- Browse R&D Systems for biochemical assays
- Browse Human Proteins and Enzymes
- Browse Primary Antibodies
- Browse Proteins and Enzymes
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- Browse cDNA Clones
- Browse Cell Culture Products
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- Custom Antibody Services
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- Custom Assay Services
- OriGene Purified Proteins for AGK
- Search Origene for MassSpec and Protein Over-expression Lysates for AGK
- Origene Custom Protein Services for AGK
- Origene shrna, sirna, and RNAi products in human, mouse, rat for AGK
- Browse OriGene Inhibitory RNA Products For AGK
- OriGene qPCR primer pairs and template standards for AGK
- OriGene qPCR primer pairs for AGK
- OriGene CRISPR knockouts for AGK
- OriGene ORF clones in human for AGK
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For AGK
- GenScript: Next-day shipping of latest version cDNA ORF clones for AGK in any vector
- GenScript Custom Purified and Recombinant Proteins Services for AGK
- GenScript Custom Assay Services for AGK
- GenScript Custom overexpressing Cell Line Services for AGK
- GenScript: Design CRISPR guide RNA sequences for AGK
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for AGK
- Sino Biological Human cDNA Clone for AGK
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse Sino Biological ELISA Kits
- Browse Sino Biological ELISA Pair Sets
- Browse Sino Biological CRO Services
- Browse Sino Biological Control Vectors
- Sino Biological Transfection Reagent
- Sino Biological Anti-His Tag Antibody
- Novus Biologicals Antibodies for AGK
- Novus Biologicals proteins and lysates for AGK
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- VectorBuilder custom plasmid, inducible vectors for AGK
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for AGK
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for AGK
- antibodies-online: Search results for 34 available Acylglycerol Kinase Antibodies ranked by validation data
- Compare Top Acylglycerol Kinase Antibodies
- Quality Products:
- antibodies-online: Search results for 4 available Acylglycerol Kinase Elisa Kits ranked by validation data
- Compare Top Acylglycerol Kinase Elisa Kits
- Quality Products:
- antibodies-online: Search results for 8 available Acylglycerol Kinase Proteins ranked by validation data
- Compare Top Acylglycerol Kinase Proteins
- Quality Products:
- GeneTex AGK Antibody for AGK
- Search GeneTex for Proteins for AGK
- Santa Cruz Biotechnology (SCBT) Antibodies for AGK
- Search Santa Cruz Biotechnology (SCBT) for AGK siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for AGK
- Horizon Cell Lines for AGK
- genomics-online: cdna clones - Search results for 117 available Acylglycerol Kinase gene related products
- Overview of 117 available Acylglycerol Kinase gene related products
- orf clones - Search results for 117 available Acylglycerol Kinase gene related products
- Overview of 117 available Acylglycerol Kinase gene related products
- genomics-online: gRNA clones - Search results for 117 available Acylglycerol Kinase gene related products
- Overview of 117 available Acylglycerol Kinase gene related products
- genomics-online: primer clones - Search results for 117 available Acylglycerol Kinase gene related products
- Overview of 117 available Acylglycerol Kinase gene related products
- genomics-online: shRNA clones - Search results for 117 available Acylglycerol Kinase gene related products
- Overview of 117 available Acylglycerol Kinase gene related products
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for AGK
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for AGK
- GeneCopoeia miRNA 3'UTR Target clone products for AGK
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AGK
Sources for AGK Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew
- (158) Applied Biosystems
- (159) GlyConnect
- (160) Aminode
- (161) GeneCopoeia
- (162) GPS-Prot
- (163) RNACentral
- (164) LncRNADisease
- (165) LOVD
- (166) miR2Disease
- (167) DiseaseEnhancer
- (168) Boster Bio