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 | Comment | Organism | Structure |
---|---|---|---|
Mg2+ | required | Homo sapiens |
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 | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | Q9H5K3 | - |
- |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
central nervous system | - |
Homo sapiens | - |
eye | - |
Homo sapiens | - |
skeletal muscle | - |
Homo sapiens | - |
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 | Comment | Organism |
---|---|---|
POMK | - |
Homo sapiens |
protein-O-mannose kinase | - |
Homo sapiens |
Cofactor | Comment | Organism | Structure |
---|---|---|---|
ATP | - |
Homo sapiens |
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 |