• Gene id: 84197

Gene Summary

• Gene Symbol: POMK   Gene   UCSC   Ensembl
• Aliases: MDDGA12, MDDGC12, SGK196
• Gene name: protein O-mannose kinase
• Alternate names: protein O-mannose kinase, Sugen kinase 196, probable inactive protein kinase-like protein SgK196, protein kinase-like protein SgK196,
• Gene location: 8p11.21 (43093505: 43123433)     Exons: 5     NC_000008.11
• Gene summary(Entrez): 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 u
• OMIM: 613350

Protein Summary

• Protein general information: Q9H5K3  
  • Name: Protein O mannose kinase (POMK) (EC 2.7.1.183) (Protein kinase like protein SgK196) (Sugen kinase 196)
  • Length: 350  
  • Mass: 40050
  • Tissue specificity: Highest expression is observed in brain, skeletal muscle, kidney and heart in fetal and adult tissues. {ECO
• Sequence:

  MEKQPQNSRRGLAPREVPPAVGLLLIMALMNTLLYLCLDHFFIAPRQSTVDPTHCPYGHFRIGQMKNCSPWLSCE
  ELRTEVRQLKRVGEGAVKRVFLSEWKEHKVALSQLTSLEMKDDFLHGLQMLKSLQGTHVVTLLGYCEDDNTMLTE
  YHPLGSLSNLEETLNLSKYQNVNTWQHRLELAMDYVSIINYLHHSPVGTRVMCDSNDLPKTLSQYLLTSNFSILA
  NDLDALPLVNHSSGMLVKCGHRELHGDFVAPEQLWPYGEDVPFHDDLMPSYDEKIDIWKIPDISSFLLGHIEGSD
  MVRFHLFDIHKACKSQTPSERPTAQDVLETYQKVLDTLRDAMMSQAREML

• Structural information:
  • Protein Domains: (81..35-)
    (/note="Protein-kinase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00159"-)
  • Interpro: IPR011009  IPR039318  IPR000719  IPR001245  
  • Prosite: PS50011
  • STRING: ENSP00000331258
• Other Databases: GeneCards:  POMK  Malacards:  POMK

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005789	endoplasmic reticulum membrane	IBA	cellular component
GO:0019200	carbohydrate kinase activity	IBA	molecular function
GO:0006493	protein O-linked glycosylation	IBA	biological process
GO:0016773	phosphotransferase activity, alcohol group as acceptor	IBA	molecular function
GO:0046835	carbohydrate phosphorylation	IBA	biological process
GO:0046835	carbohydrate phosphorylation	IDA	biological process
GO:0016773	phosphotransferase activity, alcohol group as acceptor	IDA	molecular function
GO:0006493	protein O-linked glycosylation	IDA	biological process
GO:0007420	brain development	TAS	biological process
GO:0019200	carbohydrate kinase activity	IEA	molecular function
GO:0004672	protein kinase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0006468	protein phosphorylation	IEA	biological process
GO:0006493	protein O-linked glycosylation	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016301	kinase activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0016310	phosphorylation	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0006493	protein O-linked glycosylation	TAS	biological process
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0019200	carbohydrate kinase activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0050905	neuromuscular process	IEA	biological process
GO:0019200	carbohydrate kinase activity	IEA	molecular function
GO:0007611	learning or memory	IEA	biological process
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0001764	neuron migration	IEA	biological process
GO:0019233	sensory perception of pain	IEA	biological process
GO:0007420	brain development	IEA	biological process
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00515	Mannose type O-glycan biosynthesis

Diseases

Associated diseases	References
Muscular dystrophy-dystroglycanopathy type A	KEGG:H00120
Muscular dystrophy-dystroglycanopathy	KEGG:H02307
Muscular dystrophy-dystroglycanopathy type C	KEGG:H01959
Muscular dystrophy-dystroglycanopathy type A	KEGG:H00120
Muscular dystrophy-dystroglycanopathy	KEGG:H02307
Muscular dystrophy-dystroglycanopathy type C	KEGG:H01959
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881