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

Gene ID: 84197, updated on 3-May-2020

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
109.20200228 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 Functions

What's a GeneRIF?

Pathways from PubChem

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
    5010..34929
    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, ENST00000331373.10
    Conserved Domains (1) summary
    cd00180
    Location:88329
    PKc; Catalytic domain of Protein Kinases

RefSeqs of Annotated Genomes: Homo sapiens Updated 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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