gja1b gap junction protein alpha 1b [Danio rerio (zebrafish)] - Gene

Summary

Official Symbol: gja1bprovided by ZNC
Official Full Name: gap junction protein alpha 1bprovided by ZNC
Primary source: ZFIN:ZDB-GENE-991105-4
See related: Ensembl:ENSDARG00000041799 AllianceGenome:ZFIN:ZDB-GENE-991105-4
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Danio rerio
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Also known as: stp; cx43; gja1; cx43a1; stopsel; zfCx43.3
Summary: Enables gap junction hemi-channel activity and voltage-gated channel activity. Acts upstream of or within several processes, including Kupffer's vesicle development; embryonic organ development; and skeletal system development. Located in 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 bone disease (multiple); erythrokeratodermia variabilis (multiple); hypoplastic left heart syndrome; oculodentodigital dysplasia; and palmoplantar keratoderma and congenital alopecia 1. Orthologous to human GJA1 (gap junction protein alpha 1). [provided by Alliance of Genome Resources, Dec 2024]
Orthologs: all
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Genomic context

Location:: chromosome: 20

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCz11 (GCF_000002035.6)	20	NC_007131.7 (40715163..40720453, complement)
105	previous assembly	GRCz10 (GCF_000002035.5)	20	NC_007131.6 (40818053..40823343, complement)

Chromosome 20 - NC_007131.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
BioProject: PRJEB1986
Analysis date: Fri Dec 8 19:48:10 2017

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

both Smp and beta-catenin function in a common molecular pathway with cx43 to influence both evx1 expression and joint location.
Title: Simplet-dependent regulation of β-catenin signaling influences skeletal patterning downstream of Cx43.
Data show that Connexin43 (Cx43) was identified as the gene causing the short-of-fin (sof) phenotype, in which the fin ray segments are shorter but the vertebrae are normal.
Title: Two Different Functions of Connexin43 Confer Two Different Bone Phenotypes in Zebrafish.
serpinh1b is molecularly and functionally downstream of cx43. The gene serpinh1b codes for a protein called Hsp47, a molecular chaperone responsible for proper folding of procollagen molecules.
Title: Hsp47 mediates Cx43-dependent skeletal growth and patterning in the regenerating fin.
Hapln1a-ECM stabilizes the secreted growth factor Semaphorin3d (Sema3d), which has been independently shown to mediate Cx43 dependent phenotypes during regeneration.
Title: Cx43-Dependent Skeletal Phenotypes Are Mediated by Interactions between the Hapln1a-ECM and Sema3d during Fin Regeneration.
Hapln1a has a critical role in connexin43-dependent growth and patterning in the regenerating fin skeleton
Title: Hapln1a is required for connexin43-dependent growth and patterning in the regenerating fin skeleton.
increased expression in Dupuytren's disease
Title: Expression of gap junction proteins connexins 26, 30, and 43 in Dupuytren's disease.
Sema3d functions in a common molecular pathway with Cx43 cell proliferation and joint formation
Title: Semaphorin3d mediates Cx43-dependent phenotypes during fin regeneration.
Data show that the cultured fibroblasts from patients with ossification of the posterior longitudinal ligament (OPLL) exhibited osteogenic characteristics, in which Cx43 played an important role.
Title: Upregulated expression of connexin43 in spinal ligament fibroblasts derived from patients presenting ossification of the posterior longitudinal ligament.
Studies indicate that Cardiomyogenesis is determined by stimuli from the cellular microenvironment, where connexin43 may play an important role.
Title: Human embryonic and fetal mesenchymal stem cells differentiate toward three different cardiac lineages in contrast to their adult counterparts.
Data demonstrate a cross-talk between IGF-1R and AT-1R in AT-II and IGF-1-induced Cx43 expression in SV SMCs involving Erk 1/2 and downstream activation of the AP-1 transcription factor.
Title: Cross-talk between angiotensin II and IGF-1-induced connexin 43 expression in human saphenous vein smooth muscle cells.

Submit: New GeneRIF Correction See all GeneRIFs (23)

General gene information

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Markers

fc35b03.x1 (e-PCR)
- UniSTS:193623

AF035481 (e-PCR)
- UniSTS:205661

Z13214 (e-PCR)
- UniSTS:204691

fj47d07.y1 (e-PCR)
- UniSTS:199420

Gene Ontology Provided by ZFIN

Function	Evidence Code	Pubs
enables gap junction channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables gap junction channel activity	IDA Inferred from Direct Assay more info	PubMed
enables gap junction hemi-channel activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transmembrane transporter activity	IEA Inferred from Electronic Annotation more info
enables voltage-gated channel activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within Kupffer's vesicle development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within bone growth	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within bone morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within caudal fin morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cell communication	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within cell communication	IEA Inferred from Electronic Annotation more info
involved_in cell communication by electrical coupling	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within cell differentiation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell-cell signaling	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within cell-cell signaling	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within cell-cell signaling	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within embryonic heart tube development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within embryonic hemopoiesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within embryonic skeletal joint morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within fin development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within fin morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within fin regeneration	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within fin regeneration	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within heart contraction	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within heart contraction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in heart development	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within heart development	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within medial fin development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in microtubule-based transport	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in anchoring junction	IEA Inferred from Electronic Annotation more info
located_in apical plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
part_of connexin complex	IBA Inferred from Biological aspect of Ancestor more info
part_of connexin complex	IC Inferred by Curator more info	PubMed
part_of connexin complex	IEA Inferred from Electronic Annotation more info
part_of connexin complex	ISS Inferred from Sequence or Structural Similarity more info
located_in gap junction	IDA Inferred from Direct Assay more info	PubMed
located_in gap junction	IEA Inferred from Electronic Annotation more info
located_in intercalated disc	ISS Inferred from Sequence or Structural Similarity more info
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in mitochondrion	ISS Inferred from Sequence or Structural Similarity more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: gap junction alpha-1 protein

Names: connexin 43; etID309742.9; gap junction protein, alpha 1; shf; short fin protein; sof

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_131038.1 → NP_571113.1 gap junction alpha-1 protein

See identical proteins and their annotated locations for NP_571113.1

Status: PROVISIONAL

Source sequence(s)

AF035481

UniProtKB/Swiss-Prot

O57474, Q5TYN6, Q7ZTS1

Related

ENSDARP00000061260.3, ENSDART00000061261.4

Conserved Domains (4) summary

smart00037
Location:43 → 76

CNX; Connexin homologues

smart01089
Location:166 → 231

Connexin_CCC; Gap junction channel protein cysteine-rich domain

pfam00029
Location:3 → 233

Connexin; Connexin

pfam03508
Location:294 → 311

Connexin43; Gap junction alpha-1 protein (Cx43)