Gene
gnptab
- ID
- ZDB-GENE-030131-4714
- Name
- N-acetylglucosamine-1-phosphate transferase subunits alpha and beta
- Symbol
- gnptab Nomenclature History
- Previous Names
-
- si:ch211-234f20.3
- wu:fd55d09
- zgc:122985
- zgc:158502
- Type
- protein_coding_gene
- Location
- Chr: 4 Mapping Details/Browsers
- Description
- Enables UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity. Involved in N-glycan processing to lysosome. Acts upstream of or within heart morphogenesis and skeletal system development. Predicted to be located in Golgi membrane. Predicted to be active in Golgi apparatus. Used to study congenital heart disease; mucolipidosis; and mucolipidosis II alpha/beta. Human ortholog(s) of this gene implicated in mucolipidosis II alpha/beta and mucolipidosis III alpha/beta. Orthologous to human GNPTAB (N-acetylglucosamine-1-phosphate transferase subunits alpha and beta).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Lu et al., 2020
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 26 figures from 9 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| ga1 | Allele with one deletion | Exon 8 | Unknown | TALEN | |
| ga2 | Allele with one deletion | Exon 8 | Unknown | TALEN | |
| ga3 | Allele with one deletion | Exon 8 | Unknown | TALEN | |
| sa40269 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| stl257 | Allele with one point mutation | Unknown | Unknown | ENU |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-gnptab | Zhang et al., 2022 | |
| CRISPR2-gnptab | Zhang et al., 2022 | |
| CRISPR3-gnptab | Zhang et al., 2022 | |
| CRISPR4-gnptab | Zhang et al., 2022 | |
| MO1-gnptab | N/A | (7) |
| MO2-gnptab | N/A | (5) |
| MO3-gnptab | N/A | Lee et al., 2024 |
| TALEN1-gnptab | (2) |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| mucolipidosis II alpha/beta | Alliance | Mucolipidosis II alpha/beta | 252500 |
| mucolipidosis III alpha/beta | Alliance | Mucolipidosis III alpha/beta | 252600 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | DMAP1-binding domain | EF-Hand 1, calcium-binding site | EF-hand domain | N-acetylglucosamine-1-phosphotransferase subunit alpha/beta, regulatory domain | Notch domain | Notch-like domain superfamily | Stealth family | Stealth protein CR1, conserved region 1 | Stealth protein CR2, conserved region 2 | Stealth protein CR3, conserved region 3 | Stealth protein CR4, conserved region 4 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:Q5RGJ8
|
1219 | |||||||||||
|
UniProtKB:A0A8M2BBZ0
|
1222 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| aberrant processed transcript |
gnptab-202
(1)
|
Ensembl | 2,496 nt | ||
| mRNA |
gnptab-201
(1)
|
Ensembl | 4,202 nt | ||
| mRNA |
gnptab-203
(1)
|
Ensembl | 4,815 nt | ||
| ncRNA |
gnptab-002
(1)
|
Ensembl | 549 nt |
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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 | CH211-234F20 | ZFIN Curated Data | |
| Contained in | BAC | DKEY-11K24 | ZFIN Curated Data | |
| Encodes | EST | fd55d09 | ||
| Encodes | cDNA | MGC:122985 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:158502 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001044768 (1) | 4633 nt | ||
| Genomic | GenBank:BX890572 (1) | 166208 nt | ||
| Polypeptide | UniProtKB:A0A8M2BBZ0 (1) | 1222 aa |
- Lee, J.J., Wang, T., Wiggins, K., Lu, P.N., Underwood, C., Ochenkowska, K., Samarut, E., Pollard, L.M., Flanagan-Steet, H., Steet, R. (2024) Dysregulated lysosomal exocytosis drives protease-mediated cartilage pathogenesis in multiple lysosomal disorders. iScience. 27:109293109293
- Li, Y., Liu, C., Rolling, L., Sikora, V., Chen, Z., Gurwin, J., Barabell, C., Lin, J., Duan, C. (2023) ROS signaling-induced mitochondrial Sgk1 expression regulates epithelial cell renewal. Proceedings of the National Academy of Sciences of the United States of America. 120:e2216310120e2216310120
- Zhang, W., Yang, X., Li, Y., Yu, L., Zhang, B., Zhang, J., Cho, W.J., Venkatarangan, V., Chen, L., Burugula, B.B., Bui, S., Wang, Y., Duan, C., Kitzman, J.O., Li, M. (2022) GCAF(TMEM251) regulates lysosome biogenesis by activating the mannose-6-phosphate pathway. Nature communications. 13:5351
- Lu, P.N., Moreland, T., Christian, C.J., Lund, T.C., Steet, R.A., Flanagan-Steet, H. (2020) Inappropriate cathepsin K secretion promotes its enzymatic activation driving heart and valve malformation. JCI insight. 5(20):
- Safian, D., Bogerd, J., Schulz, R.W. (2019) Regulation of spermatogonial development by Fsh: the complementary roles of locally produced Igf and Wnt signaling molecules in adult zebrafish testis. General and comparative endocrinology. 284:113244
- Flanagan-Steet, H., Christian, C., Lu, P.N., Aarnio-Peterson, M., Sanman, L., Archer-Hartmann, S., Azadi, P., Bogyo, M., Steet, R.A. (2018) TGF-ß Regulates Cathepsin Activation during Normal and Pathogenic Development. Cell Reports. 22:2964-2977
- Flanagan-Steet, H., Aarnio, M., Kwan, B., Guihard, P., Petrey, A., Haskins, M., Blanchard, F., Steet, R. (2016) Cathepsin-Mediated Alterations In TGFß-Related Signaling Underlie Disrupted Cartilage and Bone Maturation Associated With Impaired Lysosomal Targeting. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research. 31(3):535-48
- Flanagan-Steet, H., Matheny, C., Petrey, A., Parker, J., Steet, R. (2016) Enzyme-specific differences in mannose phosphorylation between GlcNAc-1-phosphotransferase αβ and γ subunit deficient zebrafish support cathepsin proteases as early mediators of mucolipidosis pathology. Biochimica et biophysica acta. General subjects. 1860(9):1845-53
- 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
- Qian, Y., van Meel, E., Flanagan-Steet, H., Yox, A., Steet, R., Kornfeld, S. (2015) Analysis of Mucolipidosis II/III GNPTAB Missense Mutations Identifies Domains of UDP-GlcNAc:Lysosomal Enzyme GlcNAc-1-Phosphotransferase Involved in Catalytic Function and Lysosomal Enzyme Recognition. The Journal of biological chemistry. 290(5):3045-56
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