Gene

gja1b

ID

ZDB-GENE-991105-4

Name

gap junction protein alpha 1b

Symbol

gja1b Nomenclature History

Previous Names

gja1 (1)
cx43 (1)
cx43a1 (1)
etID309742.9 (1)
shf
short fin
sof (1)
stopsel (1)
stp
zfCx43.3 (1)

Type

protein_coding_gene

Location

Chr: 20 Mapping Details/Browsers

Description

Exhibits gap junction hemi-channel activity and voltage-gated channel activity. Involved in several processes, including Kupffer's vesicle development; embryonic organ development; and fin regeneration. Localizes to gap junction and plasma membrane. Is expressed in several structures, including cardiovascular system; digestive system; fin; immature eye; and nervous system. 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

53 figures from 29 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

MGC:55225 (11 images)

Wild Type Expression Summary

Phenotype

All Phenotype Data: 32 figures from 10 publications
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With gja1b 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 gja1b 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
Family	IPR002261	Gap junction alpha-1 protein (Cx43)
Homologous_superfamily	IPR034634	Connexin, C-terminal
Homologous_superfamily	IPR035091	Gap junction alpha-1 protein (Cx43), alpha helix domain superfamily
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)	Gap junction alpha-1 protein (Cx43), alpha helix domain superfamily	Gap junction alpha-1 protein (Cx43), C-terminal	Gap junction protein, cysteine-rich domain
UniProtKB:O57474 InterPro	381

Transcripts

Genome Browsers

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	cx43-201 (1) Ensembl	Havana	2917 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
mRNA	cx43-202 (1) Ensembl	Havana	2806 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
mRNA	cx43-203 (1) Ensembl	Havana	913 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
mRNA	cx43-204 (1) Ensembl	Ensembl	1026 nt	Select Tool ZFIN BLAST

Interactions and Pathways

No data available

Antibodies

Name	Type	Antigen Genes	Isotype	Host Organism	Assay	Source	Citations
Ab1-cx43	polyclonal	gja1b		Rabbit	IHC WB	Quality Controlled Biochemicals	4

Plasmids

No data available

Constructs

Marker Relationships

Sequences

Orthology

Comparative Orthology: Alliance
Gene Tree: Ensembl

Citations