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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
sensory perception of pain	IEA
brain development	TAS	23929950
neuromuscular process	IEA
protein O-linked glycosylation	IBA IDA TAS	23929950
learning or memory	IEA

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 glycosylation [inference]

protein O-linked glycosylation

cellular metabolic process [inference]

phosphorus metabolic process [inference]

phosphate-containing compound metabolic process [inference]

phosphorylation [inference]

carbohydrate phosphorylation

primary metabolic process [inference]

carbohydrate metabolic process [inference]

carbohydrate phosphorylation

protein metabolic process [inference]

protein modification process [inference]

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 glycosylation [inference]

protein O-linked glycosylation

macromolecule modification [inference]

protein modification process [inference]

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 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]

carbohydrate phosphorylation

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 1 entry
GO Term	Evidence Code	PMID
endoplasmic reticulum membrane	IBA TAS

GO Hierarchy

cellular component

cellular anatomical entity [inference]

membrane [inference]

organelle membrane [inference]

endoplasmic reticulum membrane

Displaying **all 5** entries
GO Term	Evidence Code	PMID
ATP binding	IEA
phosphotransferase activity, alcohol group as acceptor	IBA IDA	23929950
protein binding	IPI	32296183 32707033
carbohydrate kinase activity	IBA TAS
protein kinase activity	IEA

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.

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

Reactions

Displaying 1 entry
Donor	Acceptor	Product	Reference
ATP	G82715NG		23929950

Displaying 1 entry
Donor	Acceptor	Product	Reference
ATP	G82715NG		23929950

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

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DO ID	Disease Name	Source
DOID:0050453	lissencephaly	DisGeNET
DOID:0050557	congenital muscular dystrophy	DisGeNET DisGeNET
DOID:0050559	Fukuyama congenital muscular dystrophy	DisGeNET
DOID:0050560	Walker-Warburg syndrome	DisGeNET
DOID:0050588	muscular dystrophy-dystroglycanopathy type B1	DisGeNET DisGeNET
DOID:0050700	cardiomyopathy	DisGeNET
DOID:0050777	Joubert syndrome	DisGeNET
DOID:0060249	scoliosis	DisGeNET
DOID:0060255	rippling muscle disease 2	DisGeNET
DOID:0060270	pontocerebellar hypoplasia type 2D	DisGeNET

The Human Phenotype Ontology

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HPO ID	HPO Term
HP:0000007	Autosomal recessive inheritance
HP:0000028	Cryptorchidism
HP:0000158	Macroglossia
HP:0000175	Cleft palate
HP:0000176	Submucous cleft hard palate
HP:0000193	Bifid uvula
HP:0000238	Hydrocephalus
HP:0000252	Microcephaly
HP:0000253	Progressive microcephaly
HP:0000256	Macrocephaly

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
Callorhinchus milii	103191503		CALMI45668
Danio rerio	492773	ZFIN:ZDB-GENE-041114-119	DANRE49654
Astyanax mexicanus	103039966		ASTMX18497
Ictalurus punctatus	108263618		ICTPU27060
Electrophorus electricus	113585802		ELEEL36161
Salmo salar	100306734		SALSA07117
Salmo trutta	115172928		SALTR72439
Gadus morhua	115552277		GADMO00629
Oreochromis niloticus	100700536		ORENI69922
Sparus aurata	115592631		SPAAU33589

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

All Resources

Other Information

Tools

Search Tools

Summary

External Links

Annotation

GlycoGene Database (GGDB)

KEGG BRITE Database

PubChem Disease

International Collaboration

Acknowledgements