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Protein

Protein O-mannose kinase

Gene

POMK

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

Caution

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

Catalytic activityi

ATP + O3-(N-acetyl-beta-D-galactosaminyl-(1->3)-N-acetyl-beta-D-glucosaminyl-(1->4)-alpha-D-mannosyl)-L-threonyl/L-seryl-[protein] = ADP + O3-(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

    Keywordsi

    Molecular functionKinase, Transferase
    LigandATP-binding, Nucleotide-binding

    Enzyme and pathway databases

    ReactomeiR-HSA-5173105 O-linked glycosylation

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Protein O-mannose kinase (EC:2.7.1.1831 Publication)
    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
    Proteomesi
    • UP000005640 Componenti: Chromosome 8

    Organism-specific databases

    EuPathDBiHostDB:ENSG00000185900.9
    HGNCiHGNC:26267 POMK
    MIMi615247 gene
    neXtProtiNX_Q9H5K3

    Subcellular locationi

    Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

    Topology

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Topological domaini1 – 20CytoplasmicSequence analysisAdd BLAST20
    Transmembranei21 – 43Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST23
    Topological domaini44 – 350LumenalSequence analysisAdd BLAST307

    Keywords - Cellular componenti

    Endoplasmic reticulum, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A12 (MDDGA12)4 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)DescriptionActionsGraphical viewLength
    Natural variantiVAR_069625137L → R in MDDGA12; loss of kinase activity. 2 PublicationsCorresponds to variant dbSNP:rs397509385EnsemblClinVar.1
    Natural variantiVAR_069626258Q → R in MDDGA12. 1 PublicationCorresponds to variant dbSNP:rs397509386EnsemblClinVar.1
    Natural variantiVAR_072560302V → D in MDDGA12. 1 PublicationCorresponds to variant dbSNP:rs199756983EnsemblClinVar.1
    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

    DisGeNETi84197
    MalaCardsiPOMK
    MIMi615249 phenotype
    616094 phenotype
    OpenTargetsiENSG00000185900
    Orphaneti899 Walker-Warburg syndrome

    Polymorphism and mutation databases

    DMDMi74761446

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    ChainiPRO_00002629961 – 350Protein O-mannose kinaseAdd BLAST350

    Amino acid modifications

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Modified residuei1N-acetylmethionineCombined sources1
    Glycosylationi165N-linked (GlcNAc...) asparagineSequence analysis1
    Glycosylationi220N-linked (GlcNAc...) asparagineSequence analysis1
    Glycosylationi235N-linked (GlcNAc...) asparagineSequence analysis1

    Keywords - PTMi

    Acetylation, Glycoprotein

    Proteomic databases

    EPDiQ9H5K3
    MaxQBiQ9H5K3
    PaxDbiQ9H5K3
    PeptideAtlasiQ9H5K3
    PRIDEiQ9H5K3

    PTM databases

    iPTMnetiQ9H5K3
    PhosphoSitePlusiQ9H5K3

    Expressioni

    Tissue specificityi

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

    Gene expression databases

    BgeeiENSG00000185900
    ExpressionAtlasiQ9H5K3 baseline and differential
    GenevisibleiQ9H5K3 HS

    Organism-specific databases

    HPAiHPA013321

    Interactioni

    Protein-protein interaction databases

    BioGridi123942, 76 interactors
    IntActiQ9H5K3, 4 interactors
    STRINGi9606.ENSP00000331258

    Structurei

    3D structure databases

    ProteinModelPortaliQ9H5K3
    SMRiQ9H5K3
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Domaini81 – 350Protein kinasePROSITE-ProRule annotationAdd BLAST270

    Sequence similaritiesi

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

    Keywords - Domaini

    Signal-anchor, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiENOG410IFAD Eukaryota
    ENOG4111I05 LUCA
    GeneTreeiENSGT00390000004945
    HOGENOMiHOG000006624
    HOVERGENiHBG093945
    InParanoidiQ9H5K3
    KOiK17547
    OMAiQLWPYGE
    OrthoDBiEOG091G0N7R
    PhylomeDBiQ9H5K3

    Family and domain databases

    InterProiView protein in InterPro
    IPR011009 Kinase-like_dom_sf
    IPR000719 Prot_kinase_dom
    IPR001245 Ser-Thr/Tyr_kinase_cat_dom
    PfamiView protein in Pfam
    PF07714 Pkinase_Tyr, 1 hit
    SUPFAMiSSF56112 SSF56112, 1 hit
    PROSITEiView protein in PROSITE
    PS50011 PROTEIN_KINASE_DOM, 1 hit

    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)DescriptionActionsGraphical viewLength
    Natural variantiVAR_04137248S → P1 PublicationCorresponds to variant dbSNP:rs34466747EnsemblClinVar.1
    Natural variantiVAR_069625137L → R in MDDGA12; loss of kinase activity. 2 PublicationsCorresponds to variant dbSNP:rs397509385EnsemblClinVar.1
    Natural variantiVAR_041373140Y → F1 PublicationCorresponds to variant dbSNP:rs34750053Ensembl.1
    Natural variantiVAR_041374254V → M1 PublicationCorresponds to variant dbSNP:rs34715198Ensembl.1
    Natural variantiVAR_069626258Q → R in MDDGA12. 1 PublicationCorresponds to variant dbSNP:rs397509386EnsemblClinVar.1
    Natural variantiVAR_041375301M → T1 PublicationCorresponds to variant dbSNP:rs33920561EnsemblClinVar.1
    Natural variantiVAR_072560302V → D in MDDGA12. 1 PublicationCorresponds to variant dbSNP:rs199756983EnsemblClinVar.1
    Natural variantiVAR_041376342M → I in a lung small cell carcinoma sample; somatic mutation. 1 Publication1

    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
    UniGeneiHs.491646

    Genome annotation databases

    EnsembliENST00000331373; ENSP00000331258; ENSG00000185900
    ENST00000614426; ENSP00000478821; ENSG00000185900
    GeneIDi84197
    KEGGihsa:84197
    UCSCiuc003xpw.4 human

    Keywords - Coding sequence diversityi

    Polymorphism

    Similar proteinsi

    Entry informationi

    Entry nameiSG196_HUMAN
    AccessioniPrimary (citable) accession number: Q9H5K3
    Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 28, 2006
    Last sequence update: March 1, 2001
    Last modified: May 23, 2018
    This is version 135 of the entry and version 1 of the sequence. See 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

    Keywords - Technical termi

    Complete proteome, Reference proteome
    UniProt is an ELIXIR core data resource
    Main funding by: National Institutes of Health