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

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