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Q53H12

- AGK_HUMAN

UniProt

Q53H12 - AGK_HUMAN

Protein

Acylglycerol kinase, mitochondrial

Gene

AGK

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 89 (01 Oct 2014)
      Sequence version 2 (17 Oct 2006)
      Previous versions | rss
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    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

    Magnesium.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

    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

    Organism-specific databases

    HGNCiHGNC:21869. AGK.

    Subcellular locationi

    Mitochondrion membrane 2 Publications

    GO - Cellular componenti

    1. intracellular membrane-bounded organelle Source: HPA
    2. mitochondrial membrane Source: UniProtKB-SubCell
    3. mitochondrion Source: HPA

    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

    ArrayExpressiQ53H12.
    BgeeiQ53H12.
    CleanExiHS_AGK.
    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.
    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

    MTVFFKTLRN HWKKTTAGLC LLTWGGHWLY GKHCDNLLRR AACQEAQVFG    50
    NQLIPPNAQV KKATVFLNPA ACKGKARTLF EKNAAPILHL SGMDVTIVKT 100
    DYEGQAKKLL ELMENTDVII VAGGDGTLQE VVTGVLRRTD EATFSKIPIG 150
    FIPLGETSSL SHTLFAESGN KVQHITDATL AIVKGETVPL DVLQIKGEKE 200
    QPVFAMTGLR WGSFRDAGVK VSKYWYLGPL KIKAAHFFST LKEWPQTHQA 250
    SISYTGPTER PPNEPEETPV QRPSLYRRIL RRLASYWAQP QDALSQEVSP 300
    EVWKDVQLST IELSITTRNN QLDPTSKEDF LNICIEPDTI SKGDFITIGS 350
    RKVRNPKLHV EGTECLQASQ CTLLIPEGAG GSFSIDSEEY EAMPVEVKLL 400
    PRKLQFFCDP RKREQMLTSP TQ 422
    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:
    EMBL
    GenBank
    DDBJ
    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. [Q53H12-1]
    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:
    EMBL
    GenBank
    DDBJ
    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 . [Q53H12-1 ]
    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.
    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

    ArrayExpressi Q53H12.
    Bgeei Q53H12.
    CleanExi HS_AGK.
    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

    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: October 1, 2014
    This is version 89 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