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Q9H5K3

- SG196_HUMAN

UniProt

Q9H5K3 - SG196_HUMAN

Protein

Protein O-mannose kinase

Gene

POMK

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 103 (01 Oct 2014)
      Sequence version 1 (01 Mar 2001)
      Previous versions | rss
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    Functioni

    Protein O-mannose kinase that specifically mediates phosphorylation at the 6-position of an O-mannose of the trisaccharide (N-acetylgalactosamine (GalNAc)-beta-1,3-N-acetylglucosamine (GlcNAc)-beta-1,4-mannose) to generate phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-1,3-N-acetylglucosamine-beta-1,4-(phosphate-6-)mannose). Phosphorylated O-mannosyl trisaccharide is a carbohydrate structure present in alpha-dystroglycan (DAG1), which is required for binding laminin G-like domain-containing extracellular proteins with high affinity. Only shows kinase activity when the GalNAc-beta-3-GlcNAc-beta-terminus is linked to the 4-position of O-mannose, suggesting that this disaccharide serves as the substrate recognition motif.2 Publications

    Catalytic activityi

    ATP + O(3)-(N-acetyl-beta-D-galactosaminyl-(1->3)-N-acetyl-beta-D-glucosaminyl-(1->4)-alpha-D-mannosyl)-L-threonyl/L-seryl-[protein] = ADP + O(3)-(N-acetyl-beta-D-galactosaminyl-(1->3)-N-acetyl-beta-D-glucosaminyl-(1->4)-alpha-D-(6-phospho)mannosyl)-L-threonyl/L-seryl-[protein].1 Publication

    Kineticsi

    1. KM=4.1 µM for ATP1 Publication

    GO - Molecular functioni

    1. ATP binding Source: UniProtKB-KW
    2. phosphotransferase activity, alcohol group as acceptor Source: UniProtKB
    3. protein kinase activity Source: InterPro

    GO - Biological processi

    1. brain development Source: UniProtKB
    2. carbohydrate phosphorylation Source: UniProtKB
    3. learning or memory Source: Ensembl
    4. neuromuscular process Source: Ensembl
    5. neuron migration Source: Ensembl
    6. protein O-linked glycosylation Source: UniProtKB
    7. sensory perception of pain Source: Ensembl

    Keywords - Molecular functioni

    Kinase, Transferase

    Keywords - Ligandi

    ATP-binding, Nucleotide-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Protein O-mannose kinase (EC:2.7.1.183)
    Short name:
    POMK
    Alternative name(s):
    Protein kinase-like protein SgK196
    Sugen kinase 196
    Gene namesi
    Name:POMK
    Synonyms:SGK196
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Unplaced

    Organism-specific databases

    HGNCiHGNC:26267. POMK.

    Subcellular locationi

    GO - Cellular componenti

    1. endoplasmic reticulum membrane Source: UniProtKB-SubCell
    2. integral component of membrane Source: UniProtKB-KW

    Keywords - Cellular componenti

    Endoplasmic reticulum, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A12 (MDDGA12) [MIM:615249]: An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound mental retardation, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti137 – 1371L → R in MDDGA12; loss of kinase activity. 1 Publication
    VAR_069625
    Natural varianti258 – 2581Q → R in MDDGA12. 1 Publication
    VAR_069626

    Keywords - Diseasei

    Congenital muscular dystrophy, Disease mutation, Dystroglycanopathy, Lissencephaly

    Organism-specific databases

    MIMi615249. phenotype.
    Orphaneti899. Walker-Warburg syndrome.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 350350Protein O-mannose kinasePRO_0000262996Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei1 – 11N-acetylmethionine1 Publication
    Glycosylationi165 – 1651N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi220 – 2201N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi235 – 2351N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Acetylation, Glycoprotein

    Proteomic databases

    MaxQBiQ9H5K3.
    PaxDbiQ9H5K3.
    PRIDEiQ9H5K3.

    PTM databases

    PhosphoSiteiQ9H5K3.

    Expressioni

    Gene expression databases

    ArrayExpressiQ9H5K3.
    BgeeiQ9H5K3.
    GenevestigatoriQ9H5K3.

    Organism-specific databases

    HPAiHPA013321.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9H5K3.
    SMRiQ9H5K3. Positions 75-210.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 2020CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini44 – 350307LumenalSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei21 – 4323Helical; Signal-anchor for type II membrane proteinSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini81 – 350270Protein kinasePROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

    Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. STKL subfamily.PROSITE-ProRule annotation
    Contains 1 protein kinase domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Signal-anchor, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG43701.
    HOGENOMiHOG000006624.
    HOVERGENiHBG093945.
    InParanoidiQ9H5K3.
    KOiK17547.
    OMAiKACKSQT.
    PhylomeDBiQ9H5K3.

    Family and domain databases

    InterProiIPR011009. Kinase-like_dom.
    IPR000719. Prot_kinase_dom.
    IPR001245. Ser-Thr/Tyr_kinase_cat_dom.
    [Graphical view]
    PfamiPF07714. Pkinase_Tyr. 1 hit.
    [Graphical view]
    SUPFAMiSSF56112. SSF56112. 1 hit.
    PROSITEiPS50011. PROTEIN_KINASE_DOM. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q9H5K3-1 [UniParc]FASTAAdd to Basket

    « Hide

    MEKQPQNSRR GLAPREVPPA VGLLLIMALM NTLLYLCLDH FFIAPRQSTV    50
    DPTHCPYGHF RIGQMKNCSP WLSCEELRTE VRQLKRVGEG AVKRVFLSEW 100
    KEHKVALSQL TSLEMKDDFL HGLQMLKSLQ GTHVVTLLGY CEDDNTMLTE 150
    YHPLGSLSNL EETLNLSKYQ NVNTWQHRLE LAMDYVSIIN YLHHSPVGTR 200
    VMCDSNDLPK TLSQYLLTSN FSILANDLDA LPLVNHSSGM LVKCGHRELH 250
    GDFVAPEQLW PYGEDVPFHD DLMPSYDEKI DIWKIPDISS FLLGHIEGSD 300
    MVRFHLFDIH KACKSQTPSE RPTAQDVLET YQKVLDTLRD AMMSQAREML 350
    Length:350
    Mass (Da):40,050
    Last modified:March 1, 2001 - v1
    Checksum:iE074FDB2E5861B0F
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti48 – 481S → P.1 Publication
    Corresponds to variant rs34466747 [ dbSNP | Ensembl ].
    VAR_041372
    Natural varianti137 – 1371L → R in MDDGA12; loss of kinase activity. 1 Publication
    VAR_069625
    Natural varianti140 – 1401Y → F.1 Publication
    Corresponds to variant rs34750053 [ dbSNP | Ensembl ].
    VAR_041373
    Natural varianti254 – 2541V → M.1 Publication
    Corresponds to variant rs34715198 [ dbSNP | Ensembl ].
    VAR_041374
    Natural varianti258 – 2581Q → R in MDDGA12. 1 Publication
    VAR_069626
    Natural varianti301 – 3011M → T.1 Publication
    Corresponds to variant rs33920561 [ dbSNP | Ensembl ].
    VAR_041375
    Natural varianti342 – 3421M → I in a lung small cell carcinoma sample; somatic mutation. 1 Publication
    VAR_041376

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK027009 mRNA. Translation: BAB15623.1.
    AC113191 Genomic DNA. No translation available.
    BC101548 mRNA. Translation: AAI01549.1.
    BC113703 mRNA. Translation: AAI13704.1.
    CCDSiCCDS6141.1.
    RefSeqiNP_001264900.1. NM_001277971.1.
    NP_115613.1. NM_032237.4.
    UniGeneiHs.491646.

    Genome annotation databases

    EnsembliENST00000331373; ENSP00000331258; ENSG00000185900.
    GeneIDi84197.
    KEGGihsa:84197.
    UCSCiuc003xpw.3. human.

    Polymorphism databases

    DMDMi74761446.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK027009 mRNA. Translation: BAB15623.1 .
    AC113191 Genomic DNA. No translation available.
    BC101548 mRNA. Translation: AAI01549.1 .
    BC113703 mRNA. Translation: AAI13704.1 .
    CCDSi CCDS6141.1.
    RefSeqi NP_001264900.1. NM_001277971.1.
    NP_115613.1. NM_032237.4.
    UniGenei Hs.491646.

    3D structure databases

    ProteinModelPortali Q9H5K3.
    SMRi Q9H5K3. Positions 75-210.
    ModBasei Search...
    MobiDBi Search...

    PTM databases

    PhosphoSitei Q9H5K3.

    Polymorphism databases

    DMDMi 74761446.

    Proteomic databases

    MaxQBi Q9H5K3.
    PaxDbi Q9H5K3.
    PRIDEi Q9H5K3.

    Protocols and materials databases

    DNASUi 84197.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000331373 ; ENSP00000331258 ; ENSG00000185900 .
    GeneIDi 84197.
    KEGGi hsa:84197.
    UCSCi uc003xpw.3. human.

    Organism-specific databases

    CTDi 84197.
    GeneCardsi GC08P042949.
    HGNCi HGNC:26267. POMK.
    HPAi HPA013321.
    MIMi 615247. gene.
    615249. phenotype.
    neXtProti NX_Q9H5K3.
    Orphaneti 899. Walker-Warburg syndrome.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG43701.
    HOGENOMi HOG000006624.
    HOVERGENi HBG093945.
    InParanoidi Q9H5K3.
    KOi K17547.
    OMAi KACKSQT.
    PhylomeDBi Q9H5K3.

    Miscellaneous databases

    ChiTaRSi SGK196. human.
    GenomeRNAii 84197.
    NextBioi 73604.
    PROi Q9H5K3.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9H5K3.
    Bgeei Q9H5K3.
    Genevestigatori Q9H5K3.

    Family and domain databases

    InterProi IPR011009. Kinase-like_dom.
    IPR000719. Prot_kinase_dom.
    IPR001245. Ser-Thr/Tyr_kinase_cat_dom.
    [Graphical view ]
    Pfami PF07714. Pkinase_Tyr. 1 hit.
    [Graphical view ]
    SUPFAMi SSF56112. SSF56112. 1 hit.
    PROSITEi PS50011. PROTEIN_KINASE_DOM. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "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].
    2. "DNA sequence and analysis of human chromosome 8."
      Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M., Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S., Asakawa T.
      , Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A., Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III, Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K., Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P., Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H., Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B., O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K., Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L., Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G., Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W., Platzer M., Shimizu N., Lander E.S.
      Nature 439:331-335(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. "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].
      Tissue: Brain.
    4. Cited for: IDENTIFICATION.
    5. Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    6. "Patterns of somatic mutation in human cancer genomes."
      Greenman C., Stephens P., Smith R., Dalgliesh G.L., Hunter C., Bignell G., Davies H., Teague J., Butler A., Stevens C., Edkins S., O'Meara S., Vastrik I., Schmidt E.E., Avis T., Barthorpe S., Bhamra G., Buck G.
      , Choudhury B., Clements J., Cole J., Dicks E., Forbes S., Gray K., Halliday K., Harrison R., Hills K., Hinton J., Jenkinson A., Jones D., Menzies A., Mironenko T., Perry J., Raine K., Richardson D., Shepherd R., Small A., Tofts C., Varian J., Webb T., West S., Widaa S., Yates A., Cahill D.P., Louis D.N., Goldstraw P., Nicholson A.G., Brasseur F., Looijenga L., Weber B.L., Chiew Y.-E., DeFazio A., Greaves M.F., Green A.R., Campbell P., Birney E., Easton D.F., Chenevix-Trench G., Tan M.-H., Khoo S.K., Teh B.T., Yuen S.T., Leung S.Y., Wooster R., Futreal P.A., Stratton M.R.
      Nature 446:153-158(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS [LARGE SCALE ANALYSIS] PRO-48; PHE-140; MET-254; THR-301 AND ILE-342.
    7. "SGK196 is a glycosylation-specific O-mannose kinase required for dystroglycan function."
      Yoshida-Moriguchi T., Willer T., Anderson M.E., Venzke D., Whyte T., Muntoni F., Lee H., Nelson S.F., Yu L., Campbell K.P.
      Science 341:896-899(2013) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, CATALYTIC ACTIVITY, BIOPHYSICOCHEMICAL PROPERTIES, CHARACTERIZATION OF VARIANT MDDGA12 ARG-137.
    8. Cited for: VARIANTS MDDGA12 ARG-137 AND ARG-258, FUNCTION.

    Entry informationi

    Entry nameiSG196_HUMAN
    AccessioniPrimary (citable) accession number: Q9H5K3
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 28, 2006
    Last sequence update: March 1, 2001
    Last modified: October 1, 2014
    This is version 103 of the entry and version 1 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

    Caution

    Although related to the Ser/Thr protein kinase family, has no protein kinase activity and acts as a mannose kinase instead.1 Publication

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 8
      Human chromosome 8: 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. Human and mouse protein kinases
      Human and mouse protein kinases: classification and index
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3