Gene
hmcn1
- ID
- ZDB-GENE-041014-322
- Name
- hemicentin 1
- Symbol
- hmcn1 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 20 Mapping Details/Browsers
- Description
- Predicted to enable calcium ion binding activity. Acts upstream of or within basement membrane organization and fin morphogenesis. Predicted to be located in several cellular components, including anchoring junction; cleavage furrow; and extracellular region. Is expressed in several structures, including axis; epidermis; median fin fold; notochord; and tail bud. Human ortholog(s) of this gene implicated in age related macular degeneration 1. Orthologous to human HMCN1 (hemicentin 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 12 figures from 5 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- eu1648 (13 images)
Wild Type Expression Summary
- All Phenotype Data
- 30 figures from 4 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| fr22 | Allele with one point mutation | Exon 55 | Premature Stop | ENU | |
| mn0263Gt | Transgenic insertion | Unknown | Unknown | DNA | |
| sa9806 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa11019 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa16438 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa17994 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa19239 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa23756 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa23757 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa30717 | Allele with one point mutation | Unknown | Splice Site | ENU |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-hmcn1 | Shah et al., 2015 | |
| MO1-hmcn1 | N/A | Carney et al., 2010 |
| MO2-hmcn1 | N/A | Gui et al., 2017 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| age related macular degeneration 1 | Alliance | {Macular degeneration, age-related, 1} | 603075 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Cell Adhesion and Cytoskeletal Organization | Complement Clr-like EGF domain | EGF-like calcium-binding, conserved site | EGF-like calcium-binding domain | EGF-like domain | EGF-type aspartate/asparagine hydroxylation site | G2 nidogen/fibulin G2F | Green fluorescent protein | Growth factor receptor cysteine-rich domain superfamily | Hemicentin/VWA7, galactose-binding domain-like | Immunoglobulin domain subtype | Immunoglobulin I-set | Immunoglobulin-like domain | Immunoglobulin-like domain superfamily | Immunoglobulin-like fold | Immunoglobulin subtype 2 | Immunoglobulin V-set domain | NOTCH1 EGF-like calcium-binding domain | Thrombospondin type-1 (TSP1) repeat | Thrombospondin type-1 (TSP1) repeat superfamily | von Willebrand factor A-like domain superfamily |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8M3AKX8 | InterPro | 5502 | |||||||||||||||||||||
| UniProtKB:A0A8M3B479 | InterPro | 3868 | |||||||||||||||||||||
| UniProtKB:A0A8M2B7L6 | InterPro | 5623 | |||||||||||||||||||||
| UniProtKB:D7PS96 | InterPro | 5615 | |||||||||||||||||||||
| UniProtKB:A0AB32T9J5 | InterPro | 5616 |
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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 | CH211-169J21 | ZFIN Curated Data | |
| Contained in | BAC | DKEYP-11G8 | ZFIN Curated Data | |
| Encodes | EST | eu1648 | Thisse et al., 2005 |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001190304 (1) | 17770 nt | ||
| Genomic | GenBank:BX248238 (1) | 158302 nt | ||
| Polypeptide | UniProtKB:A0A8M2B7L6 (1) | 5623 aa |
- Mahabaleshwar, H., Asharani, P.V., Loo, T.Y., Koh, S.Y., Pitman, M.R., Kwok, S., Ma, J., Hu, B., Lin, F., Li Lok, X., Pitson, S.M., Saunders, T.E., Carney, T.J. (2022) Slit-Robo signalling establishes a Sphingosine-1-phosphate gradient to polarise fin mesenchyme. EMBO reports. 23(8):e54464
- Wu, S., Chen, K., Xu, T., Ma, K., Gao, L., Fu, C., Zhang, W., Jing, C., Ren, C., Deng, M., Chen, Y., Zhou, Y., Pan, W., Jia, X. (2021) Tpr Deficiency Disrupts Erythroid Maturation With Impaired Chromatin Condensation in Zebrafish Embryogenesis. Frontiers in cell and developmental biology. 9:709923
- Boezio, G.L., Bensimon-Brito, A., Piesker, J., Guenther, S., Helker, C.S., Stainier, D.Y. (2020) Endothelial TGF-β signaling instructs smooth muscle cell development in the cardiac outflow tract. eLIFE. 9:
- Liedtke, D., Orth, M., Meissler, M., Geuer, S., Knaup, S., Köblitz, I., Klopocki, E. (2019) ECM alterations in Fndc3a (Fibronectin Domain Containing Protein 3A) deficient zebrafish cause temporal fin development and regeneration defects. Scientific Reports. 9:13383
- King, B.L., Rosenstein, M.C., Smith, A.M., Dykeman, C.A., Smith, G.A., Yin, V.P. (2018) RegenDbase: a comparative database of noncoding RNA regulation of tissue regeneration circuits across multiple taxa. NPJ Regenerative medicine. 3:10
- Gui, H., Schriemer, D., Cheng, W.W., Chauhan, R.K., Antiňolo, G., Berrios, C., Bleda, M., Brooks, A.S., Brouwer, R.W., Burns, A.J., Cherny, S.S., Dopazo, J., Eggen, B.J., Griseri, P., Jalloh, B., Le, T.L., Lui, V.C., Luzón-Toro, B., Matera, I., Ngan, E.S., Pelet, A., Ruiz-Ferrer, M., Sham, P.C., Shepherd, I.T., So, M.T., Sribudiani, Y., Tang, C.S., van den Hout, M.C., van der Linde, H.C., van Ham, T.J., van IJcken, W.F., Verheij, J.B., Amiel, J., Borrego, S., Ceccherini, I., Chakravarti, A., Lyonnet, S., Tam, P.K., Garcia-Barceló, M.M., Hofstra, R.M. (2017) Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes. Genome biology. 18:48
- 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
- Shah, A.N., Davey, C.F., Whitebirch, A.C., Miller, A.C., Moens, C.B. (2015) Rapid reverse genetic screening using CRISPR in zebrafish. Nature Methods. 12(6):535-40
- Westcot, S.E., Hatzold, J., Urban, M.D., Richetti, S.K., Skuster, K.J., Harm, R.M., Lopez Cervera, R., Umemoto, N., McNulty, M.S., Clark, K.J., Hammerschmidt, M., Ekker, S.C. (2015) Protein-Trap Insertional Mutagenesis Uncovers New Genes Involved in Zebrafish Skin Development, Including a Neuregulin 2a-Based ErbB Signaling Pathway Required during Median Fin Fold Morphogenesis. PLoS One. 10:e0130688
- Richardson, R.J., Gebauer, J.M., Zhang, J.L., Kobbe, B., Keene, D.R., Karlsen, K.R., Richetti, S., Wohl, A.P., Sengle, G., Neiss, W.F., Paulsson, M., Hammerschmidt, M., and Wagener, R. (2014) AMACO Is a Component of the Basement Membrane-Associated Fraser Complex. The Journal of investigative dermatology. 134(5):1313-22
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