Pomk protein-O-mannose kinase [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Pomkprovided by MGI
Official Full Name: protein-O-mannose kinaseprovided by MGI
Primary source: MGI:MGI:1921903
See related: Ensembl:ENSMUSG00000037251 AllianceGenome:MGI:1921903
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Sgk196; 4930444A02Rik
Summary: Enables carbohydrate kinase activity. Acts upstream of or within several processes, including learning or memory; nervous system development; and sensory perception of pain. Located in endoplasmic reticulum membrane. Is expressed in cerebral cortex. Used to study hydrocephalus. Human ortholog(s) of this gene implicated in congenital muscular dystrophy-dystroglycanopathy type A12 and limb-girdle muscular dystrophy. Orthologous to human POMK (protein O-mannose kinase). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in CNS E18 (RPKM 5.9), bladder adult (RPKM 5.7) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 8 A2; 8 14.25 cM

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	8	NC_000074.7 (26470632..26484149, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	8	NC_000074.6 (25980604..25994121, complement)

Chromosome 8 - NC_000074.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

POMK regulates dystroglycan function via LARGE1-mediated elongation of matriglycan.
Title: POMK regulates dystroglycan function via LARGE1-mediated elongation of matriglycan.
Study elucidated the atomic structure of mouse POMK catalytic domain in both the absence and presence of donor and acceptor substrates.
Title: 3D structural analysis of protein O-mannosyl kinase, POMK, a causative gene product of dystroglycanopathy.
Congenital hydrocephalus and defective neuronal migration in cerebellar development in 4930444A02Rik mice
Title: Congenital hydrocephalus in genetically engineered mice.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2) 1 citation
Gene trapped (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH134886 (e-PCR)
- UniSTS:218164

NoName (e-PCR)
- UniSTS:235856

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables carbohydrate kinase activity	IBA Inferred from Biological aspect of Ancestor more info
enables carbohydrate kinase activity	IDA Inferred from Direct Assay more info	PubMed
enables kinase activity	IEA Inferred from Electronic Annotation more info
enables nucleotide binding	IEA Inferred from Electronic Annotation more info
enables phosphotransferase activity, alcohol group as acceptor	IBA Inferred from Biological aspect of Ancestor more info
enables phosphotransferase activity, alcohol group as acceptor	ISO Inferred from Sequence Orthology more info
enables protein kinase activity	IEA Inferred from Electronic Annotation more info
enables transferase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within brain development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in carbohydrate phosphorylation	IBA Inferred from Biological aspect of Ancestor more info
involved_in carbohydrate phosphorylation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within learning or memory	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neuromuscular process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within phosphorylation	IEA Inferred from Electronic Annotation more info
involved_in protein O-linked glycosylation	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein O-linked glycosylation	ISO Inferred from Sequence Orthology more info
involved_in protein phosphorylation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within sensory perception of pain	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
is_active_in endoplasmic reticulum membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: protein O-mannose kinase

Names: probable inactive protein kinase-like protein SgK196; sugen kinase 196

NP_083313.1

EC 2.7.1.183

NCBI Reference Sequences (RefSeq)

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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.