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 be an extracellular matrix structural constituent. Acts upstream of or within cartilage development and notochord development. Predicted to be located in extracellular region. Predicted to be part of collagen type XI trimer. Predicted to be active in extracellular matrix and extracellular space. Is expressed in several structures, including axis; cleithrum; cranial cartilage; ectoderm; and hypochord. Human ortholog(s) of this gene implicated in Marshall syndrome; Stickler syndrome 2; autosomal dominant nonsyndromic deafness; and fibrochondrogenesis 1. Orthologous to human COL11A1 (collagen type XI alpha 1 chain).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 21 figures from 7 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7140282 (10 images)
Wild Type Expression Summary
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
Domain Details Per Protein
Protein | Length | Collagen triple helix repeat | Concanavalin A-like lectin/glucanase domain superfamily | Fibrillar collagen, C-terminal | Fibrinogen-like, C-terminal | Laminin G domain |
---|---|---|---|---|---|---|
UniProtKB:Q5BLG2
|
83 | |||||
UniProtKB:Q5BLF1
|
223 | |||||
UniProtKB:A0A0R4IUQ1
|
1465 | |||||
UniProtKB:D6MUD2
|
1813 | |||||
UniProtKB:F1QSJ2
|
1813 | |||||
UniProtKB:A0A0R4ILA4
|
1384 | |||||
UniProtKB:A2RUX5
|
1736 |
Type | Name | Length (nt) | Analysis |
---|---|---|---|
mRNA |
col11a1a-201
(1)
|
6834 nt | |
mRNA |
col11a1a-202
(1)
|
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