AGK | ENSG00000006530 | NCBI 55750

Details for: AGK

Gene ID: 55750

Symbol: AGK

Ensembl ID: ENSG00000006530

Description: acylglycerol kinase

Associated with

Disease
(R-HSA-1643685)
Diseases of signal transduction by growth factor receptors and second messengers
(R-HSA-5663202)
Glycerophospholipid biosynthesis
(R-HSA-1483206)
Metabolism
(R-HSA-1430728)
Metabolism of lipids
(R-HSA-556833)
Oncogenic mapk signaling
(R-HSA-6802957)
Phospholipid metabolism
(R-HSA-1483257)
Signaling by braf and raf1 fusions
(R-HSA-6802952)
Acylglycerol kinase activity
(GO:0047620)
Atp-dependent diacylglycerol kinase activity
(GO:0004143)
Atp binding
(GO:0005524)
Ceramide biosynthetic process
(GO:0046513)
Ceramide kinase activity
(GO:0001729)
Cytosol
(GO:0005829)
Dihydroceramide kinase activity
(GO:0102773)
Glycerolipid metabolic process
(GO:0046486)
Intracellular membrane-bounded organelle
(GO:0043231)
Lipid phosphorylation
(GO:0046834)
Mitochondrial inner membrane
(GO:0005743)
Mitochondrial intermembrane space
(GO:0005758)
Mitochondrial membrane
(GO:0031966)
Mitochondrial outer membrane
(GO:0005741)
Mitochondrion
(GO:0005739)
Protein binding
(GO:0005515)
Protein insertion into mitochondrial inner membrane
(GO:0045039)
Tim22 mitochondrial import inner membrane insertion complex
(GO:0042721)

Other Information

Proteins

AGK_HUMAN

Genular Protein ID: 891836920

Symbol: AGK_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q53H12 Q75KN1 Q96GC3 Q9NP48

Database IDs:

Citations:

PubMed ID: 16269826

Title: Further characterization of mammalian ceramide kinase: substrate delivery and (stereo)specificity, tissue distribution, and subcellular localization studies.

PubMed ID: 16269826

DOI: 10.1194/jlr.m500321-jlr200

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 12853948

Title: The DNA sequence of human chromosome 7.

PubMed ID: 12853948

DOI: 10.1038/nature01782

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 15939762

Title: A novel acylglycerol kinase that produces lysophosphatidic acid modulates cross talk with EGFR in prostate cancer cells.

PubMed ID: 15939762

DOI: 10.1083/jcb.200407123

PubMed ID: 19608861

Title: Lysine acetylation targets protein complexes and co-regulates major cellular functions.

PubMed ID: 19608861

DOI: 10.1126/science.1175371

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 22284826

Title: Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome.

PubMed ID: 22284826

DOI: 10.1016/j.ajhg.2011.12.005

PubMed ID: 22415731

Title: Identification of a truncation mutation of acylglycerol kinase (AGK) gene in a novel autosomal recessive cataract locus.

PubMed ID: 22415731

DOI: 10.1002/humu.22071

PubMed ID: 22814378

Title: N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.

PubMed ID: 22814378

DOI: 10.1073/pnas.1210303109

PubMed ID: 22277967

Title: Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing.

PubMed ID: 22277967

DOI: 10.1126/scitranslmed.3003310

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 28712724

Title: Acylglycerol kinase mutated in Sengers Syndrome is a subunit of the TIM22 protein translocase in mitochondria.

PubMed ID: 28712724

DOI: 10.1016/j.molcel.2017.06.013

PubMed ID: 28712726

Title: Sengers syndrome-associated mitochondrial acylglycerol kinase is a subunit of the human TIM22 protein import complex.

PubMed ID: 28712726

DOI: 10.1016/j.molcel.2017.06.014

PubMed ID: 23266196

Title: Mitochondrial citrate synthase crystals: novel finding in Sengers syndrome caused by acylglycerol kinase (AGK) mutations.

PubMed ID: 23266196

DOI: 10.1016/j.ymgme.2012.11.282

PubMed ID: 25208612

Title: Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients.

PubMed ID: 25208612

DOI: 10.1186/s13023-014-0119-3

Sequence Information:

Length: 422
Mass: 47137
Checksum: F9D85658616B8970
Sequence:

MTVFFKTLRN HWKKTTAGLC LLTWGGHWLY GKHCDNLLRR AACQEAQVFG NQLIPPNAQV 
KKATVFLNPA ACKGKARTLF EKNAAPILHL SGMDVTIVKT DYEGQAKKLL ELMENTDVII 
VAGGDGTLQE VVTGVLRRTD EATFSKIPIG FIPLGETSSL SHTLFAESGN KVQHITDATL 
AIVKGETVPL DVLQIKGEKE QPVFAMTGLR WGSFRDAGVK VSKYWYLGPL KIKAAHFFST 
LKEWPQTHQA SISYTGPTER PPNEPEETPV QRPSLYRRIL RRLASYWAQP QDALSQEVSP 
EVWKDVQLST IELSITTRNN QLDPTSKEDF LNICIEPDTI SKGDFITIGS RKVRNPKLHV 
EGTECLQASQ CTLLIPEGAG GSFSIDSEEY EAMPVEVKLL PRKLQFFCDP RKREQMLTSP 
TQ

The gene details are incomplete or unavailable at the moment.

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.

Details for: AGK

Associated with

Other Information

Further characterization of mammalian ceramide kinase: substrate delivery and (stereo)specificity, tissue distribution, and subcellular localization studies. PubMed ID: 16269826

Complete sequencing and characterization of 21,243 full-length human cDNAs. PubMed ID: 14702039

The DNA sequence of human chromosome 7. PubMed ID: 12853948

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). PubMed ID: 15489334

A novel acylglycerol kinase that produces lysophosphatidic acid modulates cross talk with EGFR in prostate cancer cells. PubMed ID: 15939762

Lysine acetylation targets protein complexes and co-regulates major cellular functions. PubMed ID: 19608861

Initial characterization of the human central proteome. PubMed ID: 21269460

Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome. PubMed ID: 22284826

Identification of a truncation mutation of acylglycerol kinase (AGK) gene in a novel autosomal recessive cataract locus. PubMed ID: 22415731

N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB. PubMed ID: 22814378

Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing. PubMed ID: 22277967

An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. PubMed ID: 24275569

N-terminome analysis of the human mitochondrial proteome. PubMed ID: 25944712

Acylglycerol kinase mutated in Sengers Syndrome is a subunit of the TIM22 protein translocase in mitochondria. PubMed ID: 28712724

Sengers syndrome-associated mitochondrial acylglycerol kinase is a subunit of the human TIM22 protein import complex. PubMed ID: 28712726

Mitochondrial citrate synthase crystals: novel finding in Sengers syndrome caused by acylglycerol kinase (AGK) mutations. PubMed ID: 23266196

Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients. PubMed ID: 25208612