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

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Thisse Expression Data

IMAGE:7140282 (10 images)

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 InterPro	83
UniProtKB:Q5BLF1 InterPro	223
UniProtKB:A0A0R4IUQ1 InterPro	1465
UniProtKB:D6MUD2 InterPro	1813
UniProtKB:F1QSJ2 InterPro	1813
UniProtKB:A0A0R4ILA4 InterPro	1384
UniProtKB:A2RUX5 InterPro	1736

Transcripts

Genome Browsers

Type	Name	Length (nt)	Analysis
mRNA	col11a1a-201 (1) Ensembl	6834 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
mRNA	col11a1a-202 (1) Ensembl	5740 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT

Interactions and Pathways

No data available

Antibodies

Name	Type	Antigen Genes	Isotype	Host Organism	Assay	Source	Citations
Ab1-col11a1a		col11a1a		Rabbit	IHC WB		1

Plasmids

No data available

Constructs

Marker Relationships

Sequences

Orthology

Comparative Orthology: Alliance
Gene Tree: Ensembl

Citations