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    POMK protein O-mannose kinase [ Homo sapiens (human) ]

    Gene ID: 84197, updated on 17-Jun-2019

    Summary

    Official Symbol
    POMKprovided by HGNC
    Official Full Name
    protein O-mannose kinaseprovided by HGNC
    Primary source
    HGNC:HGNC:26267
    See related
    Ensembl:ENSG00000185900 MIM:615247
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SGK196; MDDGA12; MDDGC12
    Summary
    This gene encodes a protein that may be involved in the presentation of the laminin-binding O-linked carbohydrate chain of alpha-dystroglycan (a-DG), which forms transmembrane linkages between the extracellular matrix and the exoskeleton. Some pathogens use this O-linked carbohydrate unit for host entry. Loss of function compound heterozygous mutations in this gene were found in a human patient affected by the Walker-Warburg syndrome (WWS) phenotype. Mice lacking this gene contain misplaced neurons (heterotopia) in some regions of the brain, possibly from defects in neuronal migration. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013]
    Expression
    Ubiquitous expression in brain (RPKM 2.1), testis (RPKM 1.7) and 25 other tissues See more
    Orthologs

    Genomic context

    See POMK in Genome Data Viewer
    Location:
    8p11.21
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (43093506..43123434)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (42948649..42978323)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene ring finger protein 170 Neighboring gene hook microtubule tethering protein 3 Neighboring gene RNA, U1 small nuclear 124, pseudogene Neighboring gene farnesyltransferase, CAAX box, alpha Neighboring gene heparan-alpha-glucosaminide N-acetyltransferase Neighboring gene RNY5 pseudogene 6 Neighboring gene vomeronasal 1 receptor 45 pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Pathways from BioSystems

    • Mannose type O-glycan biosynthesis, organism-specific biosystem (from KEGG)
      Mannose type O-glycan biosynthesis, organism-specific biosystemBiosynthesis of mammalian O-mannosyl glycans is initiated by the transfer of mannose from mannose-P-Dol to serine or threonine residue, followed by extensions with N-acetylglucosamine (GlcNAc) and ga...
    • Mannose type O-glycan biosynthesis, conserved biosystem (from KEGG)
      Mannose type O-glycan biosynthesis, conserved biosystemBiosynthesis of mammalian O-mannosyl glycans is initiated by the transfer of mannose from mannose-P-Dol to serine or threonine residue, followed by extensions with N-acetylglucosamine (GlcNAc) and ga...
    • Metabolic pathways, organism-specific biosystem (from KEGG)
      Metabolic pathways, organism-specific biosystem
      Metabolic pathways
    • Metabolism of proteins, organism-specific biosystem (from REACTOME)
      Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
    • O-linked glycosylation, organism-specific biosystem (from REACTOME)
      O-linked glycosylation, organism-specific biosystemO-glycosylation is an important post-translational modification (PTM) required for correct functioning of many proteins (Van den Steen et al. 1998, Moremen et al. 2012). The O-glycosylation of protei...
    • Post-translational protein modification, organism-specific biosystem (from REACTOME)
      Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ23356, MGC126597

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    carbohydrate kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    carbohydrate kinase activity TAS
    Traceable Author Statement
    more info
     
    phosphotransferase activity, alcohol group as acceptor IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    phosphotransferase activity, alcohol group as acceptor IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    brain development TAS
    Traceable Author Statement
    more info
    PubMed 
    carbohydrate phosphorylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    carbohydrate phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    learning or memory IEA
    Inferred from Electronic Annotation
    more info
     
    neuromuscular process IEA
    Inferred from Electronic Annotation
    more info
     
    neuron migration IEA
    Inferred from Electronic Annotation
    more info
     
    protein O-linked glycosylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    protein O-linked glycosylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein O-linked glycosylation TAS
    Traceable Author Statement
    more info
     
    protein phosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    sensory perception of pain IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    protein O-mannose kinase
    Names
    Sugen kinase 196
    probable inactive protein kinase-like protein SgK196
    protein kinase-like protein SgK196
    NP_001264900.1
    NP_115613.1

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_033235.1 RefSeqGene

      Range
      5001..34675
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001277971.1NP_001264900.1  protein O-mannose kinase

      See identical proteins and their annotated locations for NP_001264900.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate exon in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC113191, BC113703, BQ365114, DA074115, DA818523, EH337134
      Consensus CDS
      CCDS6141.1
      UniProtKB/Swiss-Prot
      Q9H5K3
      Related
      ENSP00000478821.1, ENST00000614426.1
      Conserved Domains (1) summary
      cd00180
      Location:88329
      PKc; Catalytic domain of Protein Kinases
    2. NM_032237.5NP_115613.1  protein O-mannose kinase

      See identical proteins and their annotated locations for NP_115613.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC113191, BC101548, BQ365114, DA330953, EH337134
      Consensus CDS
      CCDS6141.1
      UniProtKB/Swiss-Prot
      Q9H5K3
      Related
      ENSP00000331258.5, ENST00000331373.9
      Conserved Domains (1) summary
      cd00180
      Location:88329
      PKc; Catalytic domain of Protein Kinases

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

      Range
      43093506..43123434
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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