Literature summary for 2.7.1.183 extracted from

Paul, L.; Rupprich, K.; Della Marina, A.; Stein, A.; Elgizouli, M.; Kaiser, F.J.; Schweiger, B.; Koeninger, A.; Iannaccone, A.; Hehr, U.; Koelbel, H.; Roos, A.; Schara-Schmidt, U.; Kuechler, A.
Further evidence for POMK as candidate gene for WWS with meningoencephalocele (2020), Orphanet J. Rare Dis., 15, 242 .

Search for more literature for 2.7.1.183

Protein Variants

Protein Variants	Comment	Organism
additional information	important role for POMK in the pathogenesis of meningoencephalocele. Only eight different pathogenic POMK variants have been published so far, detected in eight families. Only five show the severe WWS phenotype, suggesting that POMK-associated WWS is an extremely rare disease. The phenotypic and mutational spectrum of POMK-associated WWS analysis provides evidence of the broad phenotypic variability of POMK-associated disease	Homo sapiens

Metals/Ions

Metals/Ions	Comment	Organism	Structure
Mg2+	required	Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates	Organism	Comment (Nat. Sub.)	Natural Products	Comment (Nat. Pro.)	Rev.	Reac.
ATP + 3-O-[N-acetyl-beta-D-galactosaminyl-(1->3)-N-acetyl-beta-D-glucosaminyl-(1->4)-alpha-D-mannosyl]-L-seryl-[protein]	Homo sapiens	-	ADP + 3-O-[N-acetyl-beta-D-galactosaminyl-(1->3)-N-acetyl-beta-D-glucosaminyl-(1->4)-6-O-phosphono-alpha-D-mannosyl]-L-seryl-[protein]	-	?
ATP + 3-O-[N-acetyl-beta-D-galactosaminyl-(1->3)-N-acetyl-beta-D-glucosaminyl-(1->4)-alpha-D-mannosyl]-L-threonyl-[protein]	Homo sapiens	-	ADP + 3-O-[N-acetyl-beta-D-galactosaminyl-(1->3)-N-acetyl-beta-D-glucosaminyl-(1->4)-6-O-phosphono-alpha-D-mannosyl]-L-threonyl-[protein]	-	?

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	Q9H5K3	-	-

Source Tissue

Source Tissue	Comment	Organism	Textmining
central nervous system	-	Homo sapiens	-
eye	-	Homo sapiens	-
skeletal muscle	-	Homo sapiens	-

Substrates and Products (Substrate)

Substrates	Comment Substrates	Organism	Products	Comment (Products)	Rev.	Reac.
ATP + 3-O-[N-acetyl-beta-D-galactosaminyl-(1->3)-N-acetyl-beta-D-glucosaminyl-(1->4)-alpha-D-mannosyl]-L-seryl-[protein]	-	Homo sapiens	ADP + 3-O-[N-acetyl-beta-D-galactosaminyl-(1->3)-N-acetyl-beta-D-glucosaminyl-(1->4)-6-O-phosphono-alpha-D-mannosyl]-L-seryl-[protein]	-	?
ATP + 3-O-[N-acetyl-beta-D-galactosaminyl-(1->3)-N-acetyl-beta-D-glucosaminyl-(1->4)-alpha-D-mannosyl]-L-threonyl-[protein]	-	Homo sapiens	ADP + 3-O-[N-acetyl-beta-D-galactosaminyl-(1->3)-N-acetyl-beta-D-glucosaminyl-(1->4)-6-O-phosphono-alpha-D-mannosyl]-L-threonyl-[protein]	-	?

Synonyms

Synonyms	Comment	Organism
POMK	-	Homo sapiens
protein-O-mannose kinase	-	Homo sapiens

Cofactor

Cofactor	Comment	Organism	Structure
ATP	-	Homo sapiens

General Information

General Information	Comment	Organism
malfunction	bi-allelic pathogenic variants in POMK are the cause of a broad spectrum of alpha-dystroglycanopathies. Walker-Warburg syndrome (WWS) is a rare form of alpha-dystroglycanopathy characterized by muscular dystrophy and severe malformations of the CNS and eyes. Twins that both harbor a homozygous nonsense mutation c.640C>T, p.214* in gene POMK show a phenotype with severe CNS malformations (hydrocephalus, cortical malformation, hypoplastic cerebellum, and most prominently occipital meningocele), eye malformations and highly elevated creatine kinase, indicating the clinical diagnosis of a congenital muscular dystrophy (alpha-dystroglycanopathy). Important role for POMK in the pathogenesis of meningoencephalocele. Important role for POMK in the pathogenesis of meningoencephalocele. Only eight different pathogenic POMK variants have been published so far, detected in eight families. Only five show the severe WWS phenotype, suggesting that POMK-associated WWS is an extremely rare disease. The phenotypic and mutational spectrum of POMK-associated WWS analysis provides evidence of the broad phenotypic variability of POMK-associated disease. Clinical phenotype, overview	Homo sapiens
physiological function	POMK encodes protein-O-mannose kinase, which is required for proper glycosylation and function of the dystroglycan complex and is crucial for extracellular matrix composition	Homo sapiens

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Release 2023.1 (January 2023)