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
Expression
All Expression Data
21 figures from 7 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
6 figures from 2 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With col11a1a Human Ortholog
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
Associated With col11a1a Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR000885 Fibrillar collagen, C-terminal
Domain IPR001791 Laminin G domain
Homologous_superfamily IPR013320 Concanavalin A-like lectin/glucanase domain superfamily
Homologous_superfamily IPR036056 Fibrinogen-like, C-terminal
Repeat IPR008160 Collagen triple helix repeat
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
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
Name Type Antigen Genes Isotype Host Organism Assay Source Citations
Ab1-col11a1a Rabbit
  • IHC
  • WB
1
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations