ZFIN is now using GRCz12tu for Genomic Data

Gene

col1a1a

ID

ZDB-GENE-030131-9102

Name

collagen, type I, alpha 1a

Symbol

col1a1a Nomenclature History

Previous Names

alpha1(I) (1)
cb21 (1)
col1a1
chi
chihuahua
med
microwaved
sb:cb21 (1)
sb:cb384
wu:fa99c12
wu:fb02c06

Type

protein_coding_gene

Location

Chr: 3 Mapping Details/Browsers

Genome Assembly

GRCz12tu

Annotation Status

Current

Description

Predicted to be an extracellular matrix structural constituent conferring tensile strength. Acts upstream of or within several processes, including bone mineralization involved in bone maturation; collagen fibril organization; and fin development. Located in cytoplasm. Is expressed in several structures, including fin; integument; musculature system; nervous system; and skeletal system. Used to study osteogenesis imperfecta and osteogenesis imperfecta type 3. Human ortholog(s) of this gene implicated in several diseases, including Ehlers-Danlos syndrome arthrochalasia type 1; aggressive periodontitis; bone disease (multiple); cutaneous leishmaniasis; and dentinogenesis imperfecta. Orthologous to human COL1A1 (collagen type I alpha 1 chain).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

109 figures from 75 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

cb21 (7 images)
cb384 (8 images)

Wild Type Expression Summary

Phenotype

All Phenotype Data: 38 figures from 10 publications
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With col1a1a Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
Caffey disease	Alliance	Caffey disease	114000
Ehlers-Danlos syndrome arthrochalasia type 1	Alliance	Ehlers-Danlos syndrome, arthrochalasia type, 1	130060
osteogenesis imperfecta type 1	Alliance	Osteogenesis imperfecta, type I	166200
osteogenesis imperfecta type 2	Alliance	Osteogenesis imperfecta, type II	166210
osteogenesis imperfecta type 3	Alliance	Osteogenesis imperfecta, type III	259420
osteogenesis imperfecta type 4	Alliance	Osteogenesis imperfecta, type IV	166220
osteoporosis	Alliance	{Bone mineral density variation QTL, osteoporosis}	166710
		Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1	619115

Associated With col1a1a Via Experimental Models

Human Disease	Fish	Conditions	Citations
osteogenesis imperfecta type 3	col1a1a^dc124/+	standard conditions	Gistelinck et al., 2018
osteogenesis imperfecta	col1a1a^dc124/+ (AB)	standard conditions	Fiedler et al., 2018
osteogenesis imperfecta	col1a1a^dc124/+	standard conditions	Masiero et al., 2025
osteogenesis imperfecta	col1a1a^dc124/+	standard conditions	(2)
osteogenesis imperfecta	col1a1a^dmh13/+	standard conditions	Gistelinck et al., 2018
osteogenesis imperfecta	col1a1a^dmh14/+	standard conditions	Gistelinck et al., 2018
osteogenesis imperfecta	col1a1a^dc124/+ (AB)	standard conditions	Cotti et al., 2022

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR000885	Fibrillar collagen, C-terminal
Domain	IPR001007	VWFC domain
Family	IPR050149	Collagen superfamily
Repeat	IPR008160	Collagen triple helix repeat

Domain Details Per Protein

Protein	Additional Resources	Length	Collagen superfamily	Collagen triple helix repeat	Fibrillar collagen, C-terminal	VWFC domain
UniProtKB:Q6U1J5	InterPro	1447

Transcripts

Genome Browsers

NCBI Map Viewer

ZFIN

Type	Name	Annotation Method	Has Havana Data	Length (nt)	Analysis
mRNA	col1a1a-201 (1) Ensembl	Ensembl		5,797 nt	Select Tool ZFIN BLAST
ncRNA	col1a1a-002 (1) Ensembl	Ensembl		697 nt	Select Tool ZFIN BLAST

Interactions and Pathways

No data available

Antibodies

No data available

Plasmids

No data available

Constructs

Marker Relationships

Sequences

Genome Browsers

NCBI Map Viewer

ZFIN

Orthology

Comparative Orthology: Alliance
Gene Tree: Ensembl

Citations