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 have calcium ion binding activity. Involved in basement membrane organization and fin morphogenesis. Human ortholog(s) of this gene implicated in age related macular degeneration 1. Is expressed in several structures, including axis; epidermis; median fin fold; notochord; and pectoral fin. 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
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 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR018097 | EGF-like calcium-binding, conserved site |
| Domain | IPR000742 | EGF-like domain |
| Domain | IPR001881 | EGF-like calcium-binding domain |
| Domain | IPR003598 | Immunoglobulin subtype 2 |
| Domain | IPR003599 | Immunoglobulin domain subtype |
| Domain | IPR006605 | G2 nidogen/fibulin G2F |
| Domain | IPR007110 | Immunoglobulin-like domain |
| Domain | IPR013098 | Immunoglobulin I-set |
| Domain | IPR013106 | Immunoglobulin V-set domain |
| Domain | IPR026823 | Complement Clr-like EGF domain |
| Domain | IPR049883 | NOTCH1 EGF-like calcium-binding domain |
| Family | IPR050958 | Cell Adhesion and Cytoskeletal Organization |
| Homologous_superfamily | IPR009017 | Green fluorescent protein |
| Homologous_superfamily | IPR009030 | Growth factor receptor cysteine-rich domain superfamily |
| Homologous_superfamily | IPR013783 | Immunoglobulin-like fold |
| Homologous_superfamily | IPR036179 | Immunoglobulin-like domain superfamily |
| Homologous_superfamily | IPR036383 | Thrombospondin type-1 (TSP1) repeat superfamily |
| Homologous_superfamily | IPR036465 | von Willebrand factor A-like domain superfamily |
| PTM | IPR000152 | EGF-type aspartate/asparagine hydroxylation site |
| Repeat | IPR000884 | Thrombospondin type-1 (TSP1) repeat |
Domain Details Per Protein
| Protein | 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 | 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
|
5502 | ||||||||||||||||||||
|
UniProtKB:A0A8M3B479
|
3868 | ||||||||||||||||||||
|
UniProtKB:A0A8M2B7L6
|
5623 | ||||||||||||||||||||
|
UniProtKB:D7PS96
|
5615 |
Interactions and Pathways
No data available
Plasmids
No data available