Gene
col11a1a
- ID
- ZDB-GENE-070209-167
- Name
- collagen, type XI, alpha 1a
- Symbol
- col11a1a Nomenclature History
- Previous Names
-
- col11a1
- wu:fb34e11
- wu:fc11b03
- zgc:158335 (1)
- Type
- protein_coding_gene
- Location
- Chr: 24 Mapping Details/Browsers
- Description
- Predicted to have extracellular matrix structural constituent. Predicted to be involved in growth plate cartilage chondrocyte morphogenesis. Predicted to localize to collagen-containing extracellular matrix and extracellular space. Human ortholog(s) of this gene implicated in Marshall syndrome; Stickler syndrome; autosomal dominant nonsyndromic deafness; and fibrochondrogenesis. Is expressed in several structures, including cleithrum; cranial cartilage; ectoderm; hypochord; and trabecular layer. Orthologous to human COL11A1 (collagen type XI alpha 1 chain).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 22 figures from 8 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7140282 (10 images)
Wild Type Expression Summary
- All Phenotype Data
- 10 figures from 3 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
fibrochondrogenesis 1 | Alliance | Fibrochondrogenesis 1 | 228520 |
Marshall syndrome | Alliance | Marshall syndrome | 154780 |
Stickler syndrome 2 | Alliance | Stickler syndrome, type II | 604841 |
Deafness, autosomal dominant 37 | 618533 | ||
{Lumbar disc herniation, susceptibility to} | 603932 |
Domain, Family, and Site Summary
Type | InterPro ID | Name |
---|---|---|
Domain | IPR000885 | Fibrillar collagen, C-terminal |
Domain | IPR001791 | Laminin G domain |
Domain | IPR048287 | Thrombospondin-like, N-terminal domain |
Family | IPR050149 | Collagen superfamily |
Homologous_superfamily | IPR013320 | Concanavalin A-like lectin/glucanase domain superfamily |
Repeat | IPR008160 | Collagen triple helix repeat |
Domain Details Per Protein
Protein | Length | Collagen superfamily | Collagen triple helix repeat | Concanavalin A-like lectin/glucanase domain superfamily | Fibrillar collagen, C-terminal | Laminin G domain | Thrombospondin-like, N-terminal domain |
---|---|---|---|---|---|---|---|
UniProtKB:A0A8M2B9X3
|
1715 | ||||||
UniProtKB:A2RUX5
|
1736 | ||||||
UniProtKB:A0A8M2B9U1
|
1785 | ||||||
UniProtKB:A0A8M2BA28
|
1814 | ||||||
UniProtKB:A0A8M9PXL6
|
1438 | ||||||
UniProtKB:A0A8M9PLW6
|
1686 | ||||||
UniProtKB:F1QSJ2
|
1813 |
Type | Name | Annotation Method | Length (nt) | Analysis |
---|---|---|---|---|
mRNA |
col11a1a-201
(1)
|
Havana | 6834 nt | |
mRNA |
col11a1a-202
(1)
|
Havana | 5740 nt |
Interactions and Pathways
No data available
Name | Type | Antigen Genes | Isotype | Host Organism | Assay | Source | Citations |
---|---|---|---|---|---|---|---|
Ab1-col11a1a | Rabbit |
|
1 |
Plasmids
No data available