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Q53H12

- AGK_HUMAN

UniProt

Q53H12 - AGK_HUMAN

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Protein

Acylglycerol kinase, mitochondrial

Gene

AGK

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

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.1 Publication

Catalytic activityi

ATP + acylglycerol = ADP + acyl-sn-glycerol 3-phosphate.
ATP + 1,2-diacyl-sn-glycerol = ADP + 1,2-diacyl-sn-glycerol 3-phosphate.

Cofactori

Mg2+1 Publication

Pathwayi

GO - Molecular functioni

  1. acylglycerol kinase activity Source: UniProtKB-EC
  2. ATP binding Source: UniProtKB-KW
  3. ceramide kinase activity Source: Ensembl
  4. diacylglycerol kinase activity Source: UniProtKB-EC
  5. NAD+ kinase activity Source: InterPro

GO - Biological processi

  1. ceramide biosynthetic process Source: Ensembl
  2. glycerolipid metabolic process Source: UniProtKB-UniPathway
  3. protein kinase C-activating G-protein coupled receptor signaling pathway Source: InterPro
Complete GO annotation...

Keywords - Molecular functioni

Kinase, Transferase

Keywords - Ligandi

ATP-binding, Nucleotide-binding

Enzyme and pathway databases

SABIO-RKQ53H12.
UniPathwayiUPA00230.

Names & Taxonomyi

Protein namesi
Recommended name:
Acylglycerol kinase, mitochondrial (EC:2.7.1.107, EC:2.7.1.94)
Short name:
hAGK
Alternative name(s):
Multiple substrate lipid kinase
Short name:
HsMuLK
Short name:
MuLK
Short name:
Multi-substrate lipid kinase
Gene namesi
Name:AGK
Synonyms:MULK
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 7, UP000005640: Unplaced

Organism-specific databases

HGNCiHGNC:21869. AGK.

Subcellular locationi

Mitochondrion membrane 2 Publications

GO - Cellular componenti

  1. intracellular membrane-bounded organelle Source: HPA
  2. membrane Source: UniProtKB-KW
  3. mitochondrion Source: HPA
Complete GO annotation...

Keywords - Cellular componenti

Membrane, Mitochondrion

Pathology & Biotechi

Involvement in diseasei

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.2 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.

Keywords - Diseasei

Cardiomyopathy, Cataract

Organism-specific databases

MIMi212350. phenotype.
614691. phenotype.
Orphaneti1369. Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy.
91492. Non-syndromic congenital cataract.
PharmGKBiPA162375851.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transit peptidei1 – 3131MitochondrionSequence AnalysisAdd
BLAST
Chaini32 – 422391Acylglycerol kinase, mitochondrialPRO_0000252380Add
BLAST

Proteomic databases

MaxQBiQ53H12.
PaxDbiQ53H12.
PeptideAtlasiQ53H12.
PRIDEiQ53H12.

PTM databases

PhosphoSiteiQ53H12.

Expressioni

Tissue specificityi

Highly expressed in muscle, heart, kidney and brain.1 Publication

Gene expression databases

BgeeiQ53H12.
CleanExiHS_AGK.
ExpressionAtlasiQ53H12. baseline and differential.
GenevestigatoriQ53H12.

Organism-specific databases

HPAiHPA020959.
HPA053471.

Interactioni

Protein-protein interaction databases

BioGridi120868. 10 interactions.
IntActiQ53H12. 4 interactions.
MINTiMINT-1378485.
STRINGi9606.ENSP00000347581.

Structurei

3D structure databases

ProteinModelPortaliQ53H12.
SMRiQ53H12. Positions 59-256.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini58 – 199142DAGKcPROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Contains 1 DAGKc domain.PROSITE-ProRule annotation

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiCOG1597.
GeneTreeiENSGT00690000101761.
HOGENOMiHOG000252977.
HOVERGENiHBG080751.
InParanoidiQ53H12.
KOiK09881.
OMAiTKAAHFF.
PhylomeDBiQ53H12.
TreeFamiTF320485.

Family and domain databases

InterProiIPR016064. ATP-NAD_kinase_PpnK-typ.
IPR001206. Diacylglycerol_kinase_cat_dom.
[Graphical view]
PfamiPF00781. DAGK_cat. 1 hit.
[Graphical view]
SMARTiSM00046. DAGKc. 1 hit.
[Graphical view]
SUPFAMiSSF111331. SSF111331. 2 hits.
PROSITEiPS50146. DAGK. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q53H12-1) [UniParc]FASTAAdd to Basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MTVFFKTLRN HWKKTTAGLC LLTWGGHWLY GKHCDNLLRR AACQEAQVFG
60 70 80 90 100
NQLIPPNAQV KKATVFLNPA ACKGKARTLF EKNAAPILHL SGMDVTIVKT
110 120 130 140 150
DYEGQAKKLL ELMENTDVII VAGGDGTLQE VVTGVLRRTD EATFSKIPIG
160 170 180 190 200
FIPLGETSSL SHTLFAESGN KVQHITDATL AIVKGETVPL DVLQIKGEKE
210 220 230 240 250
QPVFAMTGLR WGSFRDAGVK VSKYWYLGPL KIKAAHFFST LKEWPQTHQA
260 270 280 290 300
SISYTGPTER PPNEPEETPV QRPSLYRRIL RRLASYWAQP QDALSQEVSP
310 320 330 340 350
EVWKDVQLST IELSITTRNN QLDPTSKEDF LNICIEPDTI SKGDFITIGS
360 370 380 390 400
RKVRNPKLHV EGTECLQASQ CTLLIPEGAG GSFSIDSEEY EAMPVEVKLL
410 420
PRKLQFFCDP RKREQMLTSP TQ
Length:422
Mass (Da):47,137
Last modified:October 17, 2006 - v2
Checksum:iF9D85658616B8970
GO
Isoform 2 (identifier: Q53H12-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     48-65: VFGNQLIPPNAQVKKATV → HYQDESRWEPTLSRTPGS
     66-422: Missing.

Note: No experimental confirmation available.

Show »
Length:65
Mass (Da):7,634
Checksum:i8F3133CE9A0B6D70
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti94 – 941D → V in BAD96489. 1 PublicationCurated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti3 – 31V → M.
Corresponds to variant rs10262855 [ dbSNP | Ensembl ].
VAR_027848

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei48 – 6518VFGNQ…KKATV → HYQDESRWEPTLSRTPGS in isoform 2. 1 PublicationVSP_020925Add
BLAST
Alternative sequencei66 – 422357Missing in isoform 2. 1 PublicationVSP_020926Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ278150 mRNA. Translation: CAB93536.1.
AK001704 mRNA. Translation: BAA91848.1.
AK222769 mRNA. Translation: BAD96489.1.
AC004918 Genomic DNA. No translation available.
AC073878 Genomic DNA. No translation available.
AC099547 Genomic DNA. Translation: AAS07537.1.
BC009775 mRNA. Translation: AAH09775.1.
BC022777 mRNA. Translation: AAH22777.1.
CCDSiCCDS5865.1. [Q53H12-1]
RefSeqiNP_060708.1. NM_018238.3. [Q53H12-1]
XP_005250078.1. XM_005250021.1. [Q53H12-1]
UniGeneiHs.743318.

Genome annotation databases

EnsembliENST00000355413; ENSP00000347581; ENSG00000006530. [Q53H12-1]
ENST00000492693; ENSP00000418789; ENSG00000006530. [Q53H12-2]
ENST00000575872; ENSP00000458417; ENSG00000262327.
GeneIDi55750.
KEGGihsa:55750.
UCSCiuc003vwi.2. human. [Q53H12-1]

Polymorphism databases

DMDMi116248550.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ278150 mRNA. Translation: CAB93536.1 .
AK001704 mRNA. Translation: BAA91848.1 .
AK222769 mRNA. Translation: BAD96489.1 .
AC004918 Genomic DNA. No translation available.
AC073878 Genomic DNA. No translation available.
AC099547 Genomic DNA. Translation: AAS07537.1 .
BC009775 mRNA. Translation: AAH09775.1 .
BC022777 mRNA. Translation: AAH22777.1 .
CCDSi CCDS5865.1. [Q53H12-1 ]
RefSeqi NP_060708.1. NM_018238.3. [Q53H12-1 ]
XP_005250078.1. XM_005250021.1. [Q53H12-1 ]
UniGenei Hs.743318.

3D structure databases

ProteinModelPortali Q53H12.
SMRi Q53H12. Positions 59-256.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 120868. 10 interactions.
IntActi Q53H12. 4 interactions.
MINTi MINT-1378485.
STRINGi 9606.ENSP00000347581.

Chemistry

ChEMBLi CHEMBL2417354.

PTM databases

PhosphoSitei Q53H12.

Polymorphism databases

DMDMi 116248550.

Proteomic databases

MaxQBi Q53H12.
PaxDbi Q53H12.
PeptideAtlasi Q53H12.
PRIDEi Q53H12.

Protocols and materials databases

DNASUi 55750.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000355413 ; ENSP00000347581 ; ENSG00000006530 . [Q53H12-1 ]
ENST00000492693 ; ENSP00000418789 ; ENSG00000006530 . [Q53H12-2 ]
ENST00000575872 ; ENSP00000458417 ; ENSG00000262327 .
GeneIDi 55750.
KEGGi hsa:55750.
UCSCi uc003vwi.2. human. [Q53H12-1 ]

Organism-specific databases

CTDi 55750.
GeneCardsi GC07P141250.
HGNCi HGNC:21869. AGK.
HPAi HPA020959.
HPA053471.
MIMi 212350. phenotype.
610345. gene.
614691. phenotype.
neXtProti NX_Q53H12.
Orphaneti 1369. Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy.
91492. Non-syndromic congenital cataract.
PharmGKBi PA162375851.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG1597.
GeneTreei ENSGT00690000101761.
HOGENOMi HOG000252977.
HOVERGENi HBG080751.
InParanoidi Q53H12.
KOi K09881.
OMAi TKAAHFF.
PhylomeDBi Q53H12.
TreeFami TF320485.

Enzyme and pathway databases

UniPathwayi UPA00230 .
SABIO-RK Q53H12.

Miscellaneous databases

ChiTaRSi AGK. human.
GeneWikii AGK_(gene).
GenomeRNAii 55750.
NextBioi 60737.
PROi Q53H12.
SOURCEi Search...

Gene expression databases

Bgeei Q53H12.
CleanExi HS_AGK.
ExpressionAtlasi Q53H12. baseline and differential.
Genevestigatori Q53H12.

Family and domain databases

InterProi IPR016064. ATP-NAD_kinase_PpnK-typ.
IPR001206. Diacylglycerol_kinase_cat_dom.
[Graphical view ]
Pfami PF00781. DAGK_cat. 1 hit.
[Graphical view ]
SMARTi SM00046. DAGKc. 1 hit.
[Graphical view ]
SUPFAMi SSF111331. SSF111331. 2 hits.
PROSITEi PS50146. DAGK. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Further characterization of mammalian ceramide kinase: substrate delivery and (stereo)specificity, tissue distribution, and subcellular localization studies."
    Van Overloop H., Gijsbers S., Van Veldhoven P.P.
    J. Lipid Res. 47:268-283(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), SUBCELLULAR LOCATION.
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
  3. Suzuki Y., Sugano S., Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S.
    Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Liver.
  4. "The DNA sequence of human chromosome 7."
    Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L.
    , Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K.
    Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
    Tissue: Gall bladder and Uterus.
  6. "A novel acylglycerol kinase that produces lysophosphatidic acid modulates cross talk with EGFR in prostate cancer cells."
    Bektas M., Payne S.G., Liu H., Goparaju S., Milstien S., Spiegel S.
    J. Cell Biol. 169:801-811(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, COFACTOR, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
  7. "Lysine acetylation targets protein complexes and co-regulates major cellular functions."
    Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T.C., Olsen J.V., Mann M.
    Science 325:834-840(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  8. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  9. Cited for: INVOLVEMENT IN MTDPS10.
  10. "Identification of a truncation mutation of acylglycerol kinase (AGK) gene in a novel autosomal recessive cataract locus."
    Aldahmesh M.A., Khan A.O., Mohamed J.Y., Alghamdi M.H., Alkuraya F.S.
    Hum. Mutat. 33:960-962(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN CTRCT38.
  11. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  12. Cited for: INVOLVEMENT IN MTDPS10.

Entry informationi

Entry nameiAGK_HUMAN
AccessioniPrimary (citable) accession number: Q53H12
Secondary accession number(s): Q75KN1, Q96GC3, Q9NP48
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 17, 2006
Last sequence update: October 17, 2006
Last modified: November 26, 2014
This is version 91 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

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.

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3