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 enable heparin binding activity. Predicted to be an extracellular matrix structural constituent conferring tensile strength. Acts upstream of or within cartilage morphogenesis and notochord development. Predicted to be located in extracellular region. Predicted to be part of collagen type XI trimer. Predicted to be active in collagen-containing extracellular matrix and extracellular space. Is expressed in several structures, including axis; cleithrum; ectoderm; head; and hypochord. Human ortholog(s) of this gene implicated in Marshall syndrome; Stickler syndrome 2; autosomal dominant nonsyndromic deafness 37; and fibrochondrogenesis 1. 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 |
---|---|---|---|
autosomal dominant nonsyndromic deafness 37 | Alliance | Deafness, autosomal dominant 37 | 618533 |
fibrochondrogenesis 1 | Alliance | Fibrochondrogenesis 1 | 228520 |
Marshall syndrome | Alliance | Marshall syndrome | 154780 |
Stickler syndrome 2 | Alliance | Stickler syndrome, type II | 604841 |
{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 | Has Havana Data | Length (nt) | Analysis |
---|---|---|---|---|---|
mRNA |
col11a1a-201
(1)
|
Ensembl | 6,834 nt | ||
mRNA |
col11a1a-202
(1)
|
Ensembl | 5,740 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