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Aliases for POMK Gene

Aliases for POMK Gene

  • Protein-O-Mannose Kinase 2 3 5
  • Protein Kinase-Like Protein SgK196 3 4
  • Sugen Kinase 196 3 4
  • SGK196 3 4
  • Probable Inactive Protein Kinase-Like Protein SgK196 3
  • EC 2.7.1.183 4
  • MDDGA12 3
  • MDDGC12 3

External Ids for POMK Gene

Previous GeneCards Identifiers for POMK Gene

  • GC08P042949

Summaries for POMK Gene

Entrez Gene Summary for POMK Gene

  • 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]

GeneCards Summary for POMK Gene

POMK (Protein-O-Mannose Kinase) is a Protein Coding gene. Diseases associated with POMK include muscular dystrophy-dystroglycanopathy , type a, 12 and muscular dystrophy-dystroglycanopathy , type c, 12. GO annotations related to this gene include transferase activity, transferring phosphorus-containing groups and phosphotransferase activity, alcohol group as acceptor.

UniProtKB/Swiss-Prot for POMK Gene

  • 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.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for POMK Gene

Genomics for POMK Gene

Regulatory Elements for POMK Gene

Promoters for POMK Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around POMK on UCSC Golden Path with GeneCards custom track

Genomic Location for POMK Gene

Chromosome:
8
Start:
43,093,506 bp from pter
End:
43,123,440 bp from pter
Size:
29,935 bases
Orientation:
Plus strand

Genomic View for POMK Gene

Genes around POMK on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
POMK Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for POMK Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for POMK Gene

Proteins for POMK Gene

  • Protein details for POMK Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H5K3-SG196_HUMAN
    Recommended name:
    Protein O-mannose kinase
    Protein Accession:
    Q9H5K3

    Protein attributes for POMK Gene

    Size:
    350 amino acids
    Molecular mass:
    40050 Da
    Quaternary structure:
    No Data Available

neXtProt entry for POMK Gene

Proteomics data for POMK Gene at MOPED

Post-translational modifications for POMK Gene

  • Ubiquitination at Lys 3
  • Glycosylation at Asn 165, Asn 220, and Asn 235
  • Modification sites at PhosphoSitePlus

Other Protein References for POMK Gene

No data available for DME Specific Peptides for POMK Gene

Domains & Families for POMK Gene

Protein Domains for POMK Gene

Suggested Antigen Peptide Sequences for POMK Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9H5K3

UniProtKB/Swiss-Prot:

SG196_HUMAN :
  • Contains 1 protein kinase domain.
  • Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. STKL subfamily.
Domain:
  • Contains 1 protein kinase domain.
Family:
  • Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. STKL subfamily.
genes like me logo Genes that share domains with POMK: view

No data available for Gene Families for POMK Gene

Function for POMK Gene

Molecular function for POMK Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=4.1 uM for ATP {ECO:0000269 PubMed:23929950};
UniProtKB/Swiss-Prot CatalyticActivity:
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].
UniProtKB/Swiss-Prot Function:
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.

Enzyme Numbers (IUBMB) for POMK Gene

Gene Ontology (GO) - Molecular Function for POMK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004672 protein kinase activity IEA --
genes like me logo Genes that share ontologies with POMK: view
genes like me logo Genes that share phenotypes with POMK: view

Human Phenotype Ontology for POMK Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for POMK Gene

miRTarBase miRNAs that target POMK

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for POMK Gene

Localization for POMK Gene

Subcellular locations from UniProtKB/Swiss-Prot for POMK Gene

Endoplasmic reticulum membrane; Single-pass type II membrane protein.

No data available for Subcellular locations from COMPARTMENTS and Gene Ontology (GO) - Cellular Components for POMK Gene

Pathways & Interactions for POMK Gene

SuperPathways for POMK Gene

No Data Available

Interacting Proteins for POMK Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000331258%0d%0a9606.ENSP00000344818%0d%0a
Selected Interacting proteins: Q9H5K3-SG196_HUMAN ENSP00000331258 for POMK Gene via I2D STRING

Gene Ontology (GO) - Biological Process for POMK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006468 protein phosphorylation IEA --
GO:0006493 protein O-linked glycosylation IDA 23929950
GO:0019233 sensory perception of pain IEA --
GO:0050905 neuromuscular process IEA --
genes like me logo Genes that share ontologies with POMK: view

No data available for Pathways by source and SIGNOR curated interactions for POMK Gene

Drugs & Compounds for POMK Gene

No Compound Related Data Available

Transcripts for POMK Gene

mRNA/cDNA for POMK Gene

(4) REFSEQ mRNAs :
(12) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Alternative Splicing Database (ASD) splice patterns (SP) for POMK Gene

No ASD Table

Relevant External Links for POMK Gene

GeneLoc Exon Structure for
POMK
ECgene alternative splicing isoforms for
POMK

Expression for POMK Gene

mRNA expression in normal human tissues for POMK Gene

Protein differential expression in normal tissues from HIPED for POMK Gene

This gene is overexpressed in Fetal Brain (26.5), Placenta (20.2), Testis (15.0), and Frontal cortex (7.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MOPED, and MaxQB for POMK Gene



mRNA Expression by UniProt/SwissProt for POMK Gene

Q9H5K3-SG196_HUMAN
Tissue specificity: Highest expression is observed in brain, skeletal muscle, kidney and heart in fetal and adult tissues.
genes like me logo Genes that share expression patterns with POMK: view

Protein tissue co-expression partners for POMK Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for POMK Gene

Orthologs for POMK Gene

This gene was present in the common ancestor of chordates.

Orthologs for POMK Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia LOC514490 35
  • 77.33 (n)
  • 76.57 (a)
POMK 36
  • 77 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SGK196 35
  • 83.62 (n)
  • 83.43 (a)
POMK 36
  • 80 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pomk 35
  • 80.69 (n)
  • 81.27 (a)
Pomk 16
Pomk 36
  • 81 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SGK196 35
  • 99.52 (n)
  • 99.71 (a)
POMK 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pomk 35
  • 79.63 (n)
  • 79.25 (a)
oppossum
(Monodelphis domestica)
Mammalia POMK 36
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia POMK 36
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves SGK196 35
  • 69.33 (n)
  • 67.14 (a)
SGK196 36
  • 65 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia POMK 36
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100497421 35
  • 64.53 (n)
  • 61.89 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.4020 35
zebrafish
(Danio rerio)
Actinopterygii pomk 35
  • 59.51 (n)
  • 57.67 (a)
pomk 36
  • 52 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8442 35
Species with no ortholog for POMK:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for POMK Gene

ENSEMBL:
Gene Tree for POMK (if available)
TreeFam:
Gene Tree for POMK (if available)

Paralogs for POMK Gene

Pseudogenes.org Pseudogenes for POMK Gene

genes like me logo Genes that share paralogs with POMK: view

No data available for Paralogs for POMK Gene

Variants for POMK Gene

Sequence variations from dbSNP and Humsavar for POMK Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
rs34466747 - 43,103,690(+) GACAA(C/T)CCACT reference, missense
rs34750053 - 43,122,243(+) TGGCT(A/G/T)TTGTG reference, missense
rs34715198 - 43,122,584(+) ATTTC(A/G)TGGCT reference, missense
rs33920561 - 43,122,726(-) GGACC(A/G)TATCA reference, missense
VAR_041376 A lung small cell carcinoma sample

Variation tolerance for POMK Gene

Residual Variation Intolerance Score: 61.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.89; 48.61% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for POMK Gene

HapMap Linkage Disequilibrium report
POMK
Human Gene Mutation Database (HGMD)
POMK

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for POMK Gene

Disorders for POMK Gene

MalaCards: The human disease database

(9) MalaCards diseases for POMK Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, and GeneCards

Disorder Aliases PubMed IDs
muscular dystrophy-dystroglycanopathy , type a, 12
  • mddga12
muscular dystrophy-dystroglycanopathy , type c, 12
  • muscular dystrophy-dystroglycanopathy , type c 12
congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type a 12
  • muscular dystrophy-dystroglycanopathy , type a, 12
limb-girdle muscular dystrophy due to pomk deficiency
  • lgmd due to pomk deficiency
walker-warburg syndrome
  • cerebroocular dysplasia-muscular dystrophy syndrome
- elite association - COSMIC cancer census association via MalaCards
Search POMK in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SG196_HUMAN
  • 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. {ECO:0000269 PubMed:23519211, ECO:0000269 PubMed:24556084, ECO:0000269 PubMed:24925318}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Muscular dystrophy-dystroglycanopathy limb-girdle C12 (MDDGC12) [MIM:616094]: An autosomal recessive limb-girdle congenital muscular dystrophy, characterized by muscle weakness and delayed motor development in association with cognitive impairment. {ECO:0000269 PubMed:24925318}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for POMK

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
POMK
genes like me logo Genes that share disorders with POMK: view

No data available for Genatlas for POMK Gene

Publications for POMK Gene

  1. Deciphering the glycosylome of dystroglycanopathies using haploid screens for lassa virus entry. (PMID: 23519211) Jae L.T. … Brummelkamp T.R. (Science 2013) 2 3 4 67
  2. Emerging roles of pseudokinases. (PMID: 16879967) Boudeau J. … Alessi D.R. (Trends Cell Biol. 2006) 2 3
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations. (PMID: 24925318) Di Costanzo S. … Manzini M.C. (Hum. Mol. Genet. 2014) 3
  5. POMK mutation in a family with congenital muscular dystrophy with merosin deficiency, hypomyelination, mild hearing deficit and intellectual disability. (PMID: 24556084) von Renesse A. … Schuelke M. (J. Med. Genet. 2014) 3

Products for POMK Gene

Sources for POMK Gene

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