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Protein

Protein O-mannose kinase

Gene

POMK

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

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

    GO - Biological processi

    • brain development Source: UniProtKB
    • carbohydrate phosphorylation Source: UniProtKB
    • learning or memory Source: Ensembl
    • neuromuscular process Source: Ensembl
    • neuron migration Source: Ensembl
    • protein O-linked glycosylation Source: UniProtKB
    • sensory perception of pain Source: Ensembl
    Complete GO annotation...

    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 Componenti: Chromosome 8

    Organism-specific databases

    HGNCiHGNC:26267. POMK.

    Subcellular locationi

    Topology

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 2020CytoplasmicSequence AnalysisAdd
    BLAST
    Transmembranei21 – 4323Helical; Signal-anchor for type II membrane proteinSequence AnalysisAdd
    BLAST
    Topological domaini44 – 350307LumenalSequence AnalysisAdd
    BLAST

    GO - Cellular componenti

    Complete GO annotation...

    Keywords - Cellular componenti

    Endoplasmic reticulum, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A12 (MDDGA12)3 Publications

    The disease is caused by mutations affecting the gene represented in this entry.

    Disease descriptionAn 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.

    See also OMIM:615249
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti137 – 1371L → R in MDDGA12; loss of kinase activity. 2 Publications
    VAR_069625
    Natural varianti258 – 2581Q → R in MDDGA12. 1 Publication
    VAR_069626
    Natural varianti302 – 3021V → D in MDDGA12. 1 Publication
    VAR_072560
    Muscular dystrophy-dystroglycanopathy limb-girdle C12 (MDDGC12)1 Publication

    The disease is caused by mutations affecting the gene represented in this entry.

    Disease descriptionAn autosomal recessive limb-girdle congenital muscular dystrophy, characterized by muscle weakness and delayed motor development in association with cognitive impairment.

    See also OMIM:616094

    Keywords - Diseasei

    Congenital muscular dystrophy, Disease mutation, Dystroglycanopathy, Limb-girdle muscular dystrophy, Lissencephaly

    Organism-specific databases

    MIMi615249. phenotype.
    616094. phenotype.
    Orphaneti899. Walker-Warburg syndrome.

    Polymorphism and mutation databases

    DMDMi74761446.

    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

    Tissue specificityi

    Highest expression is observed in brain, skeletal muscle, kidney and heart in fetal and adult tissues.1 Publication

    Gene expression databases

    BgeeiQ9H5K3.
    ExpressionAtlasiQ9H5K3. baseline and differential.
    GenevisibleiQ9H5K3. HS.

    Organism-specific databases

    HPAiHPA013321.

    Interactioni

    Protein-protein interaction databases

    BioGridi123942. 44 interactions.
    STRINGi9606.ENSP00000331258.

    Structurei

    3D structure databases

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

    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.
    GeneTreeiENSGT00390000004945.
    HOGENOMiHOG000006624.
    HOVERGENiHBG093945.
    InParanoidiQ9H5K3.
    KOiK17547.
    OMAiQLWPYGE.
    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

            10         20         30         40         50
    MEKQPQNSRR GLAPREVPPA VGLLLIMALM NTLLYLCLDH FFIAPRQSTV
    60 70 80 90 100
    DPTHCPYGHF RIGQMKNCSP WLSCEELRTE VRQLKRVGEG AVKRVFLSEW
    110 120 130 140 150
    KEHKVALSQL TSLEMKDDFL HGLQMLKSLQ GTHVVTLLGY CEDDNTMLTE
    160 170 180 190 200
    YHPLGSLSNL EETLNLSKYQ NVNTWQHRLE LAMDYVSIIN YLHHSPVGTR
    210 220 230 240 250
    VMCDSNDLPK TLSQYLLTSN FSILANDLDA LPLVNHSSGM LVKCGHRELH
    260 270 280 290 300
    GDFVAPEQLW PYGEDVPFHD DLMPSYDEKI DIWKIPDISS FLLGHIEGSD
    310 320 330 340 350
    MVRFHLFDIH KACKSQTPSE RPTAQDVLET YQKVLDTLRD AMMSQAREML
    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. 2 Publications
    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 varianti302 – 3021V → D in MDDGA12. 1 Publication
    VAR_072560
    Natural varianti342 – 3421M → I in a lung small cell carcinoma sample; somatic mutation. 1 Publication
    VAR_041376

    Sequence databases

    Select the link destinations:
    EMBLi
    GenBanki
    DDBJi
    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.
    XP_011542970.1. XM_011544668.1.
    XP_011542971.1. XM_011544669.1.
    UniGeneiHs.491646.

    Genome annotation databases

    EnsembliENST00000331373; ENSP00000331258; ENSG00000185900.
    ENST00000614426; ENSP00000478821; ENSG00000185900.
    GeneIDi84197.
    KEGGihsa:84197.
    UCSCiuc003xpw.3. human.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBLi
    GenBanki
    DDBJi
    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.
    XP_011542970.1. XM_011544668.1.
    XP_011542971.1. XM_011544669.1.
    UniGeneiHs.491646.

    3D structure databases

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

    Protein-protein interaction databases

    BioGridi123942. 44 interactions.
    STRINGi9606.ENSP00000331258.

    PTM databases

    PhosphoSiteiQ9H5K3.

    Polymorphism and mutation databases

    DMDMi74761446.

    Proteomic databases

    MaxQBiQ9H5K3.
    PaxDbiQ9H5K3.
    PRIDEiQ9H5K3.

    Protocols and materials databases

    DNASUi84197.
    Structural Biology KnowledgebaseSearch...

    Genome annotation databases

    EnsembliENST00000331373; ENSP00000331258; ENSG00000185900.
    ENST00000614426; ENSP00000478821; ENSG00000185900.
    GeneIDi84197.
    KEGGihsa:84197.
    UCSCiuc003xpw.3. human.

    Organism-specific databases

    CTDi84197.
    GeneCardsiGC08P042949.
    HGNCiHGNC:26267. POMK.
    HPAiHPA013321.
    MIMi615247. gene.
    615249. phenotype.
    616094. phenotype.
    neXtProtiNX_Q9H5K3.
    Orphaneti899. Walker-Warburg syndrome.
    GenAtlasiSearch...

    Phylogenomic databases

    eggNOGiNOG43701.
    GeneTreeiENSGT00390000004945.
    HOGENOMiHOG000006624.
    HOVERGENiHBG093945.
    InParanoidiQ9H5K3.
    KOiK17547.
    OMAiQLWPYGE.
    PhylomeDBiQ9H5K3.

    Miscellaneous databases

    GenomeRNAii84197.
    NextBioi73604.
    PROiQ9H5K3.
    SOURCEiSearch...

    Gene expression databases

    BgeeiQ9H5K3.
    ExpressionAtlasiQ9H5K3. baseline and differential.
    GenevisibleiQ9H5K3. HS.

    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]
    ProtoNetiSearch...

    Publicationsi

    « Hide 'large scale' publications
    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. "POMK mutation in a family with congenital muscular dystrophy with merosin deficiency, hypomyelination, mild hearing deficit and intellectual disability."
      von Renesse A., Petkova M.V., Luetzkendorf S., Heinemeyer J., Gill E., Huebner C., von Moers A., Stenzel W., Schuelke M.
      J. Med. Genet. 51:275-282(2014) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN MDDGA12.
    9. Cited for: TISSUE SPECIFICITY, INVOLVEMENT IN MDDGC12, VARIANT MDDGA12 ASP-302.
    10. Cited for: VARIANTS MDDGA12 ARG-137 AND ARG-258, FUNCTION, INVOLVEMENT IN MDDGA12.

    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: July 22, 2015
    This is version 111 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

    Similar proteinsi

    Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
    100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
    90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
    50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.