Gene
gmppb
- ID
- ZDB-GENE-040801-234
- Name
- GDP-mannose pyrophosphorylase B
- Symbol
- gmppb Nomenclature History
- Previous Names
-
- cb1066 (1)
- fc79b10
- wu:fc79b10
- zgc:92026
- Type
- protein_coding_gene
- Location
- Chr: 22 Mapping Details/Browsers
- Description
- Predicted to enable mannose-1-phosphate guanylyltransferase (GTP) activity. Acts upstream of or within several processes, including muscle cell development; protein glycosylation; and skeletal muscle tissue development. Predicted to be active in cytoplasm. Is expressed in several structures, including epidermis; hatching gland; pectoral fin musculature; periderm; and polster. Human ortholog(s) of this gene implicated in autosomal recessive limb-girdle muscular dystrophy type 2T; congenital muscular dystrophy-dystroglycanopathy type A14; muscular dystrophy-dystroglycanopathy; and muscular dystrophy-dystroglycanopathy type B14. Orthologous to human GMPPB (GDP-mannose pyrophosphorylase B).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 10 figures from 4 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cb1066 (8 images)
Wild Type Expression Summary
Phenotype Summary
Mutations
No data available
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| autosomal recessive limb-girdle muscular dystrophy type 2T | Alliance | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 | 615352 |
| congenital muscular dystrophy-dystroglycanopathy type A14 | Alliance | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 | 615350 |
| muscular dystrophy-dystroglycanopathy type B14 | Alliance | Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 14 | 615351 |
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Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR018357 | Hexapeptide transferase, conserved site |
| Domain | IPR005835 | Nucleotidyl transferase domain |
| Domain | IPR045233 | Mannose-1-phosphate guanyltransferase, N-terminal domain |
| Family | IPR050486 | Mannose-1-phosphate guanyltransferase |
| Homologous_superfamily | IPR029044 | Nucleotide-diphospho-sugar transferases |
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Domain Details Per Protein
| Protein | Additional Resources | Length | Hexapeptide repeat | Hexapeptide transferase, conserved site | Mannose-1-phosphate guanyltransferase | Mannose-1-phosphate guanyltransferase, N-terminal domain | Nucleotide-diphospho-sugar transferases | Nucleotidyl transferase domain |
|---|---|---|---|---|---|---|---|---|
| UniProtKB:F1R683 | InterPro | 360 | ||||||
| UniProtKB:Q6DBU5 | InterPro | 360 |
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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 | Fosmid | CH1073-91K2 | ZFIN Curated Data | |
| Contains | SSLP | z4682 | ||
| Encodes | EST | cb1066 | Thisse et al., 2001 | |
| Encodes | EST | fc79b10 | ||
| Encodes | cDNA | MGC:92026 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001003491 (1) | 1847 nt | ||
| Genomic | GenBank:FP102519 (2) | 37082 nt | ||
| Polypeptide | UniProtKB:F1R683 (1) | 360 aa |
- Liu, Z., Wang, Y., Yang, F., Yang, Q., Mo, X., Burstein, E., Jia, D., Cai, X.T., Tu, Y. (2021) GMPPB-congenital disorders of glycosylation associate with decreased enzymatic activity of GMPPB. Molecular biomedicine. 2:13
- Zheng, L., Liu, Z., Wang, Y., Yang, F., Wang, J., Huang, W., Qin, J., Tian, M., Cai, X., Liu, X., Mo, X., Gao, N., Jia, D. (2021) Cryo-EM structures of human GMPPA-GMPPB complex reveal how cells maintain GDP-mannose homeostasis. Nature structural & molecular biology. 28:1-12
- Bayés, À., Collins, M.O., Reig-Viader, R., Gou, G., Goulding, D., Izquierdo, A., Choudhary, J.S., Emes, R.D., Grant, S.G. (2017) Evolution of complexity in the zebrafish synapse proteome. Nature communications. 8:14613
- DeRossi, C., Vacaru, A., Rafiq, R., Cinaroglu, A., Imrie, D., Nayar, S., Baryshnikova, A., Milev, M.P., Stanga, D., Kadakia, D., Gao, N., Chu, J., Freeze, H.H., Lehrman, M.A., Sacher, M., Sadler, K.C. (2016) trappc11 is required for protein glycosylation in zebrafish and humans. Molecular biology of the cell. 27(8):1220-34
- Elkon, R., Milon, B., Morrison, L., Shah, M., Vijayakumar, S., Racherla, M., Leitch, C.C., Silipino, L., Hadi, S., Weiss-Gayet, M., Barras, E., Schmid, C.D., Ait-Lounis, A., Barnes, A., Song, Y., Eisenman, D.J., Eliyahu, E., Frolenkov, G.I., Strome, S.E., Durand, B., Zaghloul, N.A., Jones, S.M., Reith, W., Hertzano, R. (2015) RFX transcription factors are essential for hearing in mice. Nature communications. 6:8549
- Carss, K.J., Stevens, E., Foley, A.R., Cirak, S., Riemersma, M., Torelli, S., Hoischen, A., Willer, T., van Scherpenzeel, M., Moore, S.A., Messina, S., Bertini, E., Bönnemann, C.G., Abdenur, J.E., Grosmann, C.M., Kesari, A., Punetha, J., Quinlivan, R., Waddell, L.B., Young, H.K., Wraige, E., Yau, S., Brodd, L., Feng, L., Sewry, C., Macarthur, D.G., North, K.N., Hoffman, E., Stemple, D.L., Hurles, M.E., van Bokhoven, H., Campbell, K.P., Lefeber, D.J., Lin, Y.Y., and Muntoni, F. (2013) Mutations in GDP-Mannose Pyrophosphorylase B Cause Congenital and Limb-Girdle Muscular Dystrophies Associated with Hypoglycosylation of alpha-Dystroglycan. American journal of human genetics. 93(1):29-41
- Toro, S., Wegner, J., Muller, M., Westerfield, M., and Varga, Z.M. (2009) Identification of differentially expressed genes in the zebrafish hypothalamic-pituitary axis. Gene expression patterns : GEP. 9(4):200-208
- 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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