ZFIN is now using GRCz12tu for Genomic Data
Gene
pomt1
- ID
- ZDB-GENE-060929-966
- Name
- protein-O-mannosyltransferase 1
- Symbol
- pomt1 Nomenclature History
- Previous Names
-
- zgc:153731
- Type
- protein_coding_gene
- Location
- Chr: 5 Mapping Details/Browsers
- Genome Assembly
- GRCz12tu
- Annotation Status
- Current
- Description
- Enables dolichyl-phosphate-mannose-protein mannosyltransferase activity. Acts upstream of or within protein O-linked glycosylation via mannose; regulation of eye photoreceptor cell development; and regulation of skeletal muscle fiber development. Predicted to be located in endoplasmic reticulum membrane. Predicted to be active in endoplasmic reticulum. Is expressed in several structures, including digestive system; immature eye; muscle; nervous system; and pleuroperitoneal region. Used to study muscular dystrophy-dystroglycanopathy. Human ortholog(s) of this gene implicated in cardiomyopathy; cleft lip; lissencephaly; and muscular dystrophy (multiple). Orthologous to human POMT1 (protein O-mannosyltransferase 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 6 figures from 4 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 11 figures from 2 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| autosomal recessive limb-girdle muscular dystrophy type 2K | Alliance | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 | 609308 |
| congenital muscular dystrophy-dystroglycanopathy type A1 | Alliance | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | 236670 |
| muscular dystrophy-dystroglycanopathy type B1 | Alliance | Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 1 | 613155 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Glycosyltransferase 39-like | Glycosyl transferase family 39/83 | Mir domain superfamily | MIR motif | Protein O-mannosyl-transferase, C-terminal four TM domain |
|---|---|---|---|---|---|---|---|
| UniProtKB:F1QF89 | InterPro | 720 |
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Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH73-214K13 | ZFIN Curated Data | |
| Contained in | BAC | CH211-129A6 | ||
| Encodes | cDNA | MGC:153731 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:193083 | ZFIN Curated Data |
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| Type | Accession # | Genome Assembly | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001048067 (1) | 3169 nt | ||
| Genomic | GenBank:BX511209 (1) | 159017 nt | ||
| Polypeptide | UniProtKB:F1QF89 (1) | 720 aa |
- Karas, B.F., Terez, K.R., Mowla, S., Battula, N., Flannery, K.P., Gural, B.M., Aboussleman, G., Mubin, N., Manzini, M.C. (2024) Removal of pomt1 in zebrafish leads to loss of α-dystroglycan glycosylation and dystroglycanopathy phenotypes. Human molecular genetics. 33(8):709-723
- Casey, M.A., Hill, J.T., Hoshijima, K., Bryan, C.D., Gribble, S.L., Brown, J.T., Chien, C.B., Yost, H.J., Kwan, K.M. (2021) Shutdown corner, a large deletion mutant isolated from a haploid mutagenesis screen in zebrafish. G3 (Bethesda). 12(3):
- Cheung, C.T., Nguyen, T.V., Le Cam, A., Patinote, A., Journot, L., Reynes, C., Bobe, J. (2019) What makes a bad egg? Egg transcriptome reveals dysregulation of translational machinery and novel fertility genes important for fertilization. BMC Genomics. 20:584
- Giffen, K.P., Liu, H., Kramer, K.L., He, D.Z. (2019) Expression of Protein-Coding Gene Orthologs in Zebrafish and Mouse Inner Ear Non-sensory Supporting Cells. Frontiers in neuroscience. 13:1117
- 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):
- Lin, C.Y., He, J.Y., Zeng, C.W., Loo, M.R., Chang, W.Y., Zhang, P.H., Tsai, H.J. (2017) microRNA-206 modulates an Rtn4a/Cxcr4a/Thbs3a axis in newly forming somites to maintain and stabilize the somite boundary formation of zebrafish embryos.. Open Biology. 7(7)
- Tsai, H.Y., Hamilton, A., Tinch, A.E., Guy, D.R., Gharbi, K., Stear, M.J., Matika, O., Bishop, S.C., Houston, R.D. (2015) Genome wide association and genomic prediction for growth traits in juvenile farmed Atlantic salmon using a high density SNP array. BMC Genomics. 16:969
- Avsar-Ban, E., Ishikawa, H., Manya, H., Watanabe, M., Akiyama, S., Miyake, H., Endo, T., and Tamaru, Y. (2010) Protein O-mannosylation is necessary for normal embryonic development in zebrafish. Glycobiology. 20(9):1089-1102
- Moore, C.J., Goh, H.T., and Hewitt, J.E. (2008) Genes required for functional glycosylation of dystroglycan are conserved in zebrafish. Genomics. 92(3):159-167
- Steffen, L.S., Guyon, J.R., Vogel, E.D., Beltre, R., Pusack, T.J., Zhou, Y., Zon, L.I., and Kunkel, L.M. (2007) Zebrafish orthologs of human muscular dystrophy genes. BMC Genomics. 8(1):79
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