Gene
mcoln1b
- ID
- ZDB-GENE-130514-1
- Name
- mucolipin TRP cation channel 1b
- Symbol
- mcoln1b Nomenclature History
- Previous Names
-
- mcoln1.2 (1)
- Type
- protein_coding_gene
- Location
- Chr: 3 Mapping Details/Browsers
- Description
- Predicted to enable NAADP-sensitive calcium-release channel activity. Acts upstream of or within autophagy; neuromast hair cell development; and retina homeostasis. Located in late endosome and lysosome. Is expressed in several structures, including female organism; nervous system; neural rod; otic vesicle; and pleuroperitoneal region. Human ortholog(s) of this gene implicated in Lisch epithelial corneal dystrophy; glycoproteinosis; and mucolipidosis type IV. Orthologous to human MCOLN1 (mucolipin TRP cation channel 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 4 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| hg84 | Allele with one deletion | Exon 2 | Frameshift, Premature Stop | CRISPR | |
| hg85 | Allele with one deletion | Exon 2 | Frameshift, Premature Stop | CRISPR | |
| sa19939 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa33083 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa38370 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa39982 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Lisch epithelial corneal dystrophy | Alliance | Lisch epithelial corneal dystrophy | 620763 |
| mucolipidosis type IV | Alliance | Mucolipidosis IV | 252650 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Mucolipin | Mucolipin, extracytosolic domain | Polycystin cation channel, PKD1/PKD2 |
|---|---|---|---|---|---|
| UniProtKB:E7FBN6 | InterPro | 565 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
mcoln1b-201
(1)
|
Ensembl | 2,016 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 | CH211-274J7 |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001386626 (1) | 2113 nt | ||
| Genomic | GenBank:BX284638 (2) | 160026 nt | ||
| Polypeptide | UniProtKB:E7FBN6 (1) | 565 aa |
- Jin, W., Dai, Y., Li, F., Zhu, L., Huang, Z., Liu, W., Li, J., Zhang, M., Du, J., Zhang, W., Wen, Z. (2019) Dysregulation of Microglial Function Contributes to Neuronal Impairment in Mcoln1a-Deficient Zebrafish. iScience. 13:391-401
- Newman, M., Hin, N., Pederson, S., Lardelli, M. (2019) Brain transcriptome analysis of a familial Alzheimer's disease-like mutation in the zebrafish presenilin 1 gene implies effects on energy production. Molecular brain. 12:43
- Meireles, A.M., Shen, K., Zoupi, L., Iyer, H., Bouchard, E.L., Williams, A., Talbot, W.S. (2018) The Lysosomal Transcription Factor TFEB Represses Myelination Downstream of the Rag-Ragulator Complex. Developmental Cell. 47:319-330.e5
- 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
- Li, H., Pei, W., Vergarajauregui, S., Zerfas, P.M., Raben, N., Burgess, S.M., Puertollano, R. (2017) Novel Degenerative and Developmental Defects in a Zebrafish Model of Mucolipidosis Type IV. Human molecular genetics. 26(14):2701-2718
- Braasch, I., Gehrke, A.R., Smith, J.J., Kawasaki, K., Manousaki, T., Pasquier, J., Amores, A., Desvignes, T., Batzel, P., Catchen, J., Berlin, A.M., Campbell, M.S., Barrell, D., Martin, K.J., Mulley, J.F., Ravi, V., Lee, A.P., Nakamura, T., Chalopin, D., Fan, S., Wcisel, D., Cañestro, C., Sydes, J., Beaudry, F.E., Sun, Y., Hertel, J., Beam, M.J., Fasold, M., Ishiyama, M., Johnson, J., Kehr, S., Lara, M., Letaw, J.H., Litman, G.W., Litman, R.T., Mikami, M., Ota, T., Saha, N.R., Williams, L., Stadler, P.F., Wang, H., Taylor, J.S., Fontenot, Q., Ferrara, A., Searle, S.M., Aken, B., Yandell, M., Schneider, I., Yoder, J.A., Volff, J.N., Meyer, A., Amemiya, C.T., Venkatesh, B., Holland, P.W., Guiguen, Y., Bobe, J., Shubin, N.H., Di Palma, F., Alföldi, J., Lindblad-Toh, K., Postlethwait, J.H. (2016) The spotted gar genome illuminates vertebrate evolution and facilitates human-teleost comparisons. Nature Genetics. 48(4):427-37
- 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
- Briolat, V., Jouneau, L., Carvalho, R., Palha, N., Langevin, C., Herbomel, P., Schwartz, O., Spaink, H.P., Levraud, J.P., Boudinot, P. (2014) Contrasted Innate Responses to Two Viruses in Zebrafish: Insights into the Ancestral Repertoire of Vertebrate IFN-Stimulated Genes. Journal of immunology (Baltimore, Md. : 1950). 192:4328-41
- Benini, A., Bozzato, A., Mantovanelli, S., Calvarini, L., Giacopuzzi, E., Bresciani, R., Moleri, S., Zizioli, D., Beltrame, M., and Borsani, G. (2013) Characterization and expression analysis of mcoln1.1 and mcoln1.2, the putative zebrafish co-orthologs of the gene responsible for human mucolipidosis type IV. The International journal of developmental biology. 57(1):85-93
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