Gene
pomk
- ID
- ZDB-GENE-041114-119
- Name
- protein O-mannose kinase
- Symbol
- pomk Nomenclature History
- Previous Names
-
- wu:fc58e12
- zgc:101572
- Type
- protein_coding_gene
- Location
- Chr: 13 Mapping Details/Browsers
- Description
- Enables ADP binding activity; kinase activity; and polysaccharide binding activity. Acts upstream of or within muscle structure development and swimming. Predicted to be located in endoplasmic reticulum and membrane. Predicted to be active in endoplasmic reticulum membrane. Human ortholog(s) of this gene implicated in congenital muscular dystrophy-dystroglycanopathy type A12 and muscular dystrophy-dystroglycanopathy type C12. Orthologous to human POMK (protein O-mannose kinase).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7152802 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from DiCostanzo et al., 2014
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| sa1372 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| MO1-pomk | N/A | DiCostanzo et al., 2014 |
| MO2-pomk | N/A | DiCostanzo et al., 2014 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| congenital muscular dystrophy-dystroglycanopathy type A12 | Alliance | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 | 615249 |
| muscular dystrophy-dystroglycanopathy type C12 | Alliance | ?Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12 | 616094 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Protein kinase domain | Protein kinase-like domain superfamily | Protein O-mannose kinase | Serine-threonine/tyrosine-protein kinase, catalytic domain |
|---|---|---|---|---|---|---|
| UniProtKB:Q5U3W1 | InterPro PDB | 347 |
Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | DKEY-19P15 | ZFIN Curated Data | |
| Encodes | EST | fc58e12 | ||
| Encodes | EST | IMAGE:7152802 | Thisse et al., 2004 | |
| Encodes | cDNA | MGC:101572 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001007414 (1) | 1595 nt | ||
| Genomic | GenBank:CR848040 (2) | 146215 nt | ||
| Polypeptide | UniProtKB:Q5U3W1 (1) | 347 aa |
- Serafini, P.R., Feyder, M.J., Hightower, R.M., Garcia-Perez, D., Vieira, N.M., Lek, A., Gibbs, D.E., Moukha-Chafiq, O., Augelli-Szafran, C.E., Kawahara, G., Widrick, J.J., Kunkel, L.M., Alexander, M.S. (2018) A limb-girdle muscular dystrophy 2I model of muscular dystrophy identifies corrective drug compounds for dystroglycanopathies. JCI insight. 3(18):
- Zhu, Q., Venzke, D., Walimbe, A.S., Anderson, M.E., Fu, Q., Kinch, L.N., Wang, W., Chen, X., Grishin, N.V., Huang, N., Yu, L., Dixon, J.E., Campbell, K.P., Xiao, J. (2016) Structure of protein O-mannose kinase reveals a unique active site architecture. eLIFE. 5
- DiCostanzo, S., Balasubramanian, A., Pond, H.L., Rozkalne, A., Pantaleoni, C., Saredi, S., Gupta, V.A., Sunu, C.M., Yu, T.W., Kang, P.B., Salih, M.A., Mora, M., Gussoni, E., Walsh, C.A., Manzini, M.C. (2014) POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations. Human molecular genetics. 23(21):5781-92
- Strausberg,R.L., Feingold,E.A., Grouse,L.H., Derge,J.G., Klausner,R.D., Collins,F.S., Wagner,L., Shenmen,C.M., Schuler,G.D., Altschul,S.F., Zeeberg,B., Buetow,K.H., Schaefer,C.F., Bhat,N.K., Hopkins,R.F., Jordan,H., Moore,T., Max,S.I., Wang,J., Hsieh,F., Diatchenko,L., Marusina,K., Farmer,A.A., Rubin,G.M., Hong,L., Stapleton,M., Soares,M.B., Bonaldo,M.F., Casavant,T.L., Scheetz,T.E., Brownstein,M.J., Usdin,T.B., Toshiyuki,S., Carninci,P., Prange,C., Raha,S.S., Loquellano,N.A., Peters,G.J., Abramson,R.D., Mullahy,S.J., Bosak,S.A., McEwan,P.J., McKernan,K.J., Malek,J.A., Gunaratne,P.H., Richards,S., Worley,K.C., Hale,S., Garcia,A.M., Gay,L.J., Hulyk,S.W., Villalon,D.K., Muzny,D.M., Sodergren,E.J., Lu,X., Gibbs,R.A., Fahey,J., Helton,E., Ketteman,M., Madan,A., Rodrigues,S., Sanchez,A., Whiting,M., Madan,A., Young,A.C., Shevchenko,Y., Bouffard,G.G., Blakesley,R.W., Touchman,J.W., Green,E.D., Dickson,M.C., Rodriguez,A.C., Grimwood,J., Schmutz,J., Myers,R.M., Butterfield,Y.S., Krzywinski,M.I., Skalska,U., Smailus,D.E., Schnerch,A., Schein,J.E., Jones,S.J., and Marra,M.A. (2002) Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Proceedings of the National Academy of Sciences of the United States of America. 99(26):16899-903
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