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Q53H12 (AGK_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 88. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Acylglycerol kinase, mitochondrial

Short name=hAGK
EC=2.7.1.107
EC=2.7.1.94
Alternative name(s):
Multiple substrate lipid kinase
Short name=HsMuLK
Short name=MuLK
Short name=Multi-substrate lipid kinase
Gene names
Name:AGK
Synonyms:MULK
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length422 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

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. Ref.6

Catalytic activity

ATP + acylglycerol = ADP + acyl-sn-glycerol 3-phosphate.

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

Cofactor

Magnesium. Ref.6

Pathway

Lipid metabolism; glycerolipid metabolism.

Subcellular location

Mitochondrion membrane Ref.1 Ref.6.

Tissue specificity

Highly expressed in muscle, heart, kidney and brain. Ref.6

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.9 Ref.12

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.10

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.

Sequence similarities

Contains 1 DAGKc domain.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q53H12-1)

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.
Isoform 2 (identifier: Q53H12-2)

The sequence of this isoform differs from the canonical sequence as follows:
     48-65: VFGNQLIPPNAQVKKATV → HYQDESRWEPTLSRTPGS
     66-422: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Transit peptide1 – 3131Mitochondrion Potential
Chain32 – 422391Acylglycerol kinase, mitochondrial
PRO_0000252380

Regions

Domain58 – 199142DAGKc

Natural variations

Alternative sequence48 – 6518VFGNQ…KKATV → HYQDESRWEPTLSRTPGS in isoform 2.
VSP_020925
Alternative sequence66 – 422357Missing in isoform 2.
VSP_020926
Natural variant31V → M.
Corresponds to variant rs10262855 [ dbSNP | Ensembl ].
VAR_027848

Experimental info

Sequence conflict941D → V in BAD96489. Ref.3

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified October 17, 2006. Version 2.
Checksum: F9D85658616B8970

FASTA42247,137
        10         20         30         40         50         60 
MTVFFKTLRN HWKKTTAGLC LLTWGGHWLY GKHCDNLLRR AACQEAQVFG NQLIPPNAQV 

        70         80         90        100        110        120 
KKATVFLNPA ACKGKARTLF EKNAAPILHL SGMDVTIVKT DYEGQAKKLL ELMENTDVII 

       130        140        150        160        170        180 
VAGGDGTLQE VVTGVLRRTD EATFSKIPIG FIPLGETSSL SHTLFAESGN KVQHITDATL 

       190        200        210        220        230        240 
AIVKGETVPL DVLQIKGEKE QPVFAMTGLR WGSFRDAGVK VSKYWYLGPL KIKAAHFFST 

       250        260        270        280        290        300 
LKEWPQTHQA SISYTGPTER PPNEPEETPV QRPSLYRRIL RRLASYWAQP QDALSQEVSP 

       310        320        330        340        350        360 
EVWKDVQLST IELSITTRNN QLDPTSKEDF LNICIEPDTI SKGDFITIGS RKVRNPKLHV 

       370        380        390        400        410        420 
EGTECLQASQ CTLLIPEGAG GSFSIDSEEY EAMPVEVKLL PRKLQFFCDP RKREQMLTSP 


TQ 

« Hide

Isoform 2 [UniParc].

Checksum: 8F3133CE9A0B6D70
Show »

FASTA657,634

References

« Hide 'large scale' references
[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. expand/collapse author list , 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. expand/collapse author list , 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]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[9]"Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome."
Mayr J.A., Haack T.B., Graf E., Zimmermann F.A., Wieland T., Haberberger B., Superti-Furga A., Kirschner J., Steinmann B., Baumgartner M.R., Moroni I., Lamantea E., Zeviani M., Rodenburg R.J., Smeitink J., Strom T.M., Meitinger T., Sperl W., Prokisch H.
Am. J. Hum. Genet. 90:314-320(2012) [PubMed] [Europe PMC] [Abstract]
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]"N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB."
Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A., Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E., Timmerman E., Prieto J., Arnesen T., Sherman F., Gevaert K., Aldabe R.
Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[12]"Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing."
Calvo S.E., Compton A.G., Hershman S.G., Lim S.C., Lieber D.S., Tucker E.J., Laskowski A., Garone C., Liu S., Jaffe D.B., Christodoulou J., Fletcher J.M., Bruno D.L., Goldblatt J., Dimauro S., Thorburn D.R., Mootha V.K.
Sci. Transl. Med. 4:118ra10-118ra10(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN MTDPS10.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS5865.1. [Q53H12-1]
RefSeqNP_060708.1. NM_018238.3. [Q53H12-1]
XP_005250078.1. XM_005250021.1. [Q53H12-1]
UniGeneHs.743318.

3D structure databases

ProteinModelPortalQ53H12.
SMRQ53H12. Positions 59-256.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid120868. 10 interactions.
IntActQ53H12. 4 interactions.
MINTMINT-1378485.
STRING9606.ENSP00000347581.

Chemistry

ChEMBLCHEMBL2417354.

PTM databases

PhosphoSiteQ53H12.

Polymorphism databases

DMDM116248550.

Proteomic databases

MaxQBQ53H12.
PaxDbQ53H12.
PeptideAtlasQ53H12.
PRIDEQ53H12.

Protocols and materials databases

DNASU55750.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000355413; ENSP00000347581; ENSG00000006530. [Q53H12-1]
ENST00000492693; ENSP00000418789; ENSG00000006530. [Q53H12-2]
ENST00000573470; ENSP00000459040; ENSG00000262327. [Q53H12-2]
ENST00000575872; ENSP00000458417; ENSG00000262327. [Q53H12-1]
GeneID55750.
KEGGhsa:55750.
UCSCuc003vwi.2. human. [Q53H12-1]

Organism-specific databases

CTD55750.
GeneCardsGC07P141250.
HGNCHGNC:21869. AGK.
HPAHPA020959.
HPA053471.
MIM212350. phenotype.
610345. gene.
614691. phenotype.
neXtProtNX_Q53H12.
Orphanet1369. Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy.
91492. Non-syndromic congenital cataract.
PharmGKBPA162375851.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG1597.
HOGENOMHOG000252977.
HOVERGENHBG080751.
InParanoidQ53H12.
KOK09881.
OMATKAAHFF.
PhylomeDBQ53H12.
TreeFamTF320485.

Enzyme and pathway databases

SABIO-RKQ53H12.
UniPathwayUPA00230.

Gene expression databases

ArrayExpressQ53H12.
BgeeQ53H12.
CleanExHS_AGK.
GenevestigatorQ53H12.

Family and domain databases

InterProIPR016064. ATP-NAD_kinase_PpnK-typ.
IPR001206. Diacylglycerol_kinase_cat_dom.
[Graphical view]
PfamPF00781. DAGK_cat. 1 hit.
[Graphical view]
SMARTSM00046. DAGKc. 1 hit.
[Graphical view]
SUPFAMSSF111331. SSF111331. 2 hits.
PROSITEPS50146. DAGK. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSAGK. human.
GeneWikiAGK_(gene).
GenomeRNAi55750.
NextBio60737.
PROQ53H12.
SOURCESearch...

Entry information

Entry nameAGK_HUMAN
AccessionPrimary (citable) accession number: Q53H12
Secondary accession number(s): Q75KN1, Q96GC3, Q9NP48
Entry history
Integrated into UniProtKB/Swiss-Prot: October 17, 2006
Last sequence update: October 17, 2006
Last modified: July 9, 2014
This is version 88 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PATHWAY comments

Index of metabolic and biosynthesis pathways

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 7

Human chromosome 7: entries, gene names and cross-references to MIM