Gene

gja1a

ID

ZDB-GENE-050616-10

Name

gap junction protein alpha 1a

Symbol

gja1a Nomenclature History

Previous Names

cx40.8 (1)

Type

protein_coding_gene

Location

Chr: 17 Mapping Details/Browsers

Description

Exhibits gap junction channel activity. Predicted to be involved in cell-cell signaling. Localizes to gap junction and plasma membrane. Human ortholog(s) of this gene implicated in several diseases, including congenital heart disease (multiple); erythrokeratodermia variabilis (multiple); oculodentodigital dysplasia; palmoplantar keratoderma and congenital alopecia 1; and syndactyly type 3. Orthologous to human GJA1 (gap junction protein alpha 1).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

3 figures from 2 publications

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

No data available

Wild Type Expression Summary

Phenotype

All Phenotype Data: No data available
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With gja1a Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
		Craniometaphyseal dysplasia, autosomal recessive	218400
		Erythrokeratodermia variabilis et progressiva 3	617525
		Oculodentodigital dysplasia	164200
		Oculodentodigital dysplasia, autosomal recessive	257850
		Palmoplantar keratoderma with congenital alopecia	104100
		Syndactyly, type III	186100

Associated With gja1a Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Conserved_site	IPR017990	Connexin, conserved site
Domain	IPR013092	Connexin, N-terminal
Domain	IPR013124	Gap junction alpha-1 protein (Cx43), C-terminal
Domain	IPR019570	Gap junction protein, cysteine-rich domain
Family	IPR000500	Connexin
Homologous_superfamily	IPR034634	Connexin, C-terminal
Homologous_superfamily	IPR038359	Connexin, N-terminal domain superfamily

Domain Details Per Protein

Protein	Length	Connexin	Connexin, conserved site	Connexin, C-terminal	Connexin, N-terminal	Connexin, N-terminal domain superfamily	Gap junction alpha-1 protein (Cx43), C-terminal	Gap junction protein, cysteine-rich domain
UniProtKB:E7FBZ4 InterPro	354

Transcripts

Genome Browsers

NCBI

Ensembl

ZFIN

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	cx40.8-201 (1) Ensembl	Havana	1959 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-cx40.8	polyclonal	gja1a		Rabbit			1

Plasmids

No data available

Constructs

Marker Relationships

Sequences

Orthology

Comparative Orthology: Alliance
Gene Tree: Ensembl

Citations