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protein O-mannose kinase

Summary

Gene Symbol

POMK

Aliases

FLJ23356
SgK196

Organism

Homo sapiens (human)

External Links

NCBI Gene

84197

GGDB ID

gg236

HGNC

26267

mRNA

NM_032237

Protein

NP_115613

OMIM

615247

KEGG Gene ID

hsa:84197

PubChem

84197

Alliance of Genome Resources

HGNC:26267

Annotation

Keyword

ATP-binding
Acetylation
Congenital muscular dystrophy
Disease variant
Dystroglycanopathy
Endoplasmic reticulum
Glycoprotein
Kinase
Limb-girdle muscular dystrophy
Lissencephaly
Reference proteome
Signal-anchor
Transmembrane helix

Proteins

Displaying 1 entry
UniProt	Protein Name
Q9H5K3	Protein kinase-like protein SgK196 Sugen kinase 196

Annotation information from UniProt.

Gene Ontology (GO)

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GO Term	Evidence Code	PMID
protein phosphorylation
protein O-linked glycosylation	TAS
protein O-linked glycosylation	IDA	23929950
protein O-linked glycosylation	IBA
brain development	TAS	23929950

GO Hierarchy

biological process

metabolic process [inference]

nitrogen compound metabolic process [inference]

organonitrogen compound metabolic process [inference]

protein metabolic process [inference]

protein modification process [inference]

protein phosphorylation

protein glycosylation [inference]

protein O-linked glycosylation

cellular metabolic process [inference]

phosphorus metabolic process [inference]

phosphate-containing compound metabolic process [inference]

phosphorylation [inference]

primary metabolic process [inference]

carbohydrate metabolic process [inference]

carbohydrate phosphorylation

protein metabolic process [inference]

protein modification process [inference]

protein phosphorylation

protein glycosylation [inference]

protein O-linked glycosylation

glycosylation [inference]

macromolecule glycosylation [inference]

protein glycosylation [inference]

protein O-linked glycosylation

organic substance metabolic process [inference]

carbohydrate metabolic process [inference]

carbohydrate phosphorylation

macromolecule metabolic process [inference]

protein metabolic process [inference]

protein modification process [inference]

protein phosphorylation

protein glycosylation [inference]

protein O-linked glycosylation

macromolecule modification [inference]

protein modification process [inference]

protein phosphorylation

protein glycosylation [inference]

protein O-linked glycosylation

macromolecule glycosylation [inference]

protein glycosylation [inference]

protein O-linked glycosylation

organonitrogen compound metabolic process [inference]

protein metabolic process [inference]

protein modification process [inference]

protein phosphorylation

protein glycosylation [inference]

protein O-linked glycosylation

cellular process [inference]

cellular metabolic process [inference]

phosphorus metabolic process [inference]

phosphate-containing compound metabolic process [inference]

phosphorylation [inference]

multicellular organismal process [inference]

system process [inference]

nervous system process [inference]

sensory perception [inference]

sensory perception of pain

cognition [inference]

learning or memory

neuromuscular process

behavior [inference]

learning or memory

developmental process [inference]

anatomical structure development [inference]

animal organ development [inference]

brain development

Displaying **all 2** entries
GO Term	Evidence Code	PMID
endoplasmic reticulum membrane	TAS
endoplasmic reticulum membrane	IBA

GO Hierarchy

cellular component

cellular anatomical entity [inference]

membrane [inference]

organelle membrane [inference]

endoplasmic reticulum membrane

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GO Term	Evidence Code	PMID
protein kinase activity	IEA
protein binding	IPI	32296183 32707033
ATP binding	IEA
phosphotransferase activity, alcohol group as acceptor	IDA	23929950
phosphotransferase activity, alcohol group as acceptor	IBA

GO Hierarchy

molecular function

catalytic activity [inference]

transferase activity [inference]

transferase activity, transferring phosphorus-containing groups [inference]

kinase activity [inference]

phosphotransferase activity, alcohol group as acceptor

protein kinase activity

catalytic activity, acting on a protein [inference]

protein kinase activity

binding [inference]

protein binding

small molecule binding [inference]

heterocyclic compound binding [inference]

nucleotide binding [inference]

purine nucleotide binding [inference]

adenyl nucleotide binding [inference]

adenyl ribonucleotide binding [inference]

ATP binding

purine ribonucleotide binding [inference]

adenyl ribonucleotide binding [inference]

ATP binding

ribonucleotide binding [inference]

purine ribonucleotide binding [inference]

adenyl ribonucleotide binding [inference]

ATP binding

ion binding [inference]

anion binding [inference]

purine ribonucleoside triphosphate binding [inference]

ATP binding

organic cyclic compound binding [inference]

nucleoside phosphate binding [inference]

nucleotide binding [inference]

purine nucleotide binding [inference]

adenyl nucleotide binding [inference]

adenyl ribonucleotide binding [inference]

ATP binding

purine ribonucleotide binding [inference]

adenyl ribonucleotide binding [inference]

ATP binding

ribonucleotide binding [inference]

purine ribonucleotide binding [inference]

adenyl ribonucleotide binding [inference]

ATP binding

purine ribonucleoside triphosphate binding [inference]

ATP binding

carbohydrate derivative binding [inference]

ribonucleotide binding [inference]

purine ribonucleotide binding [inference]

adenyl ribonucleotide binding [inference]

ATP binding

Gene Ontology information from NCBI Gene and UniProt.

OrthoDB (Group)

Group level

Eukaryota

Group Name

Kinase

Functional Category

J: Translation, ribosomal structure and biogenesis
K: Transcription
T: Signal transduction mechanisms

Displaying **all 4** entries
Gene Ontology
ATP binding
kinase activity
nucleotide binding
phosphorylation

Displaying **all 2** entries
InterPro
Protein kinase domain
Protein kinase-like domain superfamily

Human Protein Atlas

ENSG00000185900

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

Data available from v23.0.proteinatlas.org. Image credit: Human Protein Atlas

GlycoGene Database (GGDB)

GGDB ID

gg236

Gene Symbol

POMK

KEGG BRITE Database

Orthology

K17547

Name

glycoprotein-mannosyl O6-kinase [EC:2.7.1.183]

References

23929950

Rhea

RHEA:52604

ATP

H⁺ + ADP

Enzyme

2.7.1.183

PMID

RHEA:52616

ATP

H⁺ + ADP

Enzyme

2.7.1.183

PMID

Disease

Disease Ontology

Displaying **all 2** entries
DO ID	Disease Name	Source
DOID:0111235	congenital muscular dystrophy-dystroglycanopathy type A12	Alliance of Genome Resources
DOID:0112381	muscular dystrophy-dystroglycanopathy type C12	Alliance of Genome Resources

The Human Phenotype Ontology

Displaying entries **31 - 40** of **103** in total

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HPO ID	HPO Term
HP:0000612	Iris coloboma
HP:0000618	Blindness
HP:0000648	Optic atrophy
HP:0001090	Abnormally large globe
HP:0001249	Intellectual disability
HP:0001250	Seizure
HP:0001252	Hypotonia
HP:0001256	Intellectual disability, mild
HP:0001263	Global developmental delay
HP:0001265	Hyporeflexia

Displaying **all 4** entries
Disease ID	Disease Name
OMIM:615249	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
ORPHA:899	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 muscular dystrophy-dystroglycanopathy, type A
OMIM:616094	limb-girdle muscular dystrophy due to POMK deficiency
ORPHA:370959	muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 muscular dystrophy-dystroglycanopathy type B5 obsolete congenital muscular dystrophy with cerebellar involvement

PubChem Disease

MedGen Diseases

OMIM Phenotypes

KEGG Diseases

Gene-Disease-Co-Occurrences-in-Literature (PubChem)

Ortholog

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Mus musculus	74653	Xenbase:XB-GENE-984409	MOUSE59505
Xenopus tropicalis	84197	Xenbase:XB-GENE-984409
Rattus norvegicus	306549	Xenbase:XB-GENE-984409	RATNO10895
Pan troglodytes	464154		PANTR42495
Canis lupus familiaris	482834		CANLF04639
Danio rerio	492773	Xenbase:XB-GENE-984409	DANRE06129
Xenopus tropicalis	496338	Xenbase:XB-GENE-984409
Bos taurus	514490		BOVIN22184
Monodelphis domestica	100030275		MONDO09316
Equus caballus	100053457		HORSE25191

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

All Resources

Other Information

Tools

Search Tools

Guidelines

Summary

External Links

Annotation

OrthoDB (Group)

GlycoGene Database (GGDB)

KEGG BRITE Database

PubChem Disease

International Collaboration

Acknowledgements