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. 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
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