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

Expression

All Expression Data

22 figures from 8 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

IMAGE:7140282 (10 images)

Wild Type Expression Summary

Phenotype

All Phenotype Data: 10 figures from 3 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
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

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
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 InterPro	1715
UniProtKB:A2RUX5 InterPro	1736
UniProtKB:A0A8M2B9U1 InterPro	1785
UniProtKB:A0A8M2BA28 InterPro	1814
UniProtKB:A0A8M9PXL6 InterPro	1438
UniProtKB:A0A8M9PLW6 InterPro	1686
UniProtKB:F1QSJ2 InterPro	1813