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    gjb1a gap junction protein beta 1a [ Danio rerio (zebrafish) ]

    Gene ID: 114405, updated on 2-Nov-2024

    Summary

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    Official Symbol
    gjb1aprovided by ZNC
    Official Full Name
    gap junction protein beta 1aprovided by ZNC
    Primary source
    ZFIN:ZDB-GENE-010619-2
    See related
    Ensembl:ENSDARG00000035553 AllianceGenome:ZFIN:ZDB-GENE-010619-2
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Danio rerio
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
    Also known as
    cx27.5; zfCx27.5
    Summary
    Predicted to enable gap junction channel activity. Predicted to be involved in cell-cell signaling. Predicted to act upstream of or within cell communication. Predicted to be located in gap junction and plasma membrane. Predicted to be part of connexin complex. Is expressed in several structures, including heart; liver; nervous system; otic vesicle; and pleuroperitoneal region. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease X-linked dominant 1. Orthologous to human GJB1 (gap junction protein beta 1). [provided by Alliance of Genome Resources, Nov 2024]
    Orthologs
    all
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    Genomic context

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    See gjb1a in Genome Data Viewer
    Location:
    chromosome: 5
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCz11 (GCF_000002035.6) 5 NC_007116.7 (23622177..23628071)
    105 previous assembly GRCz10 (GCF_000002035.5) 5 NC_007116.6 (23120884..23126801)

    Chromosome 5 - NC_007116.7Genomic Context describing neighboring genes Neighboring gene K(lysine) acetyltransferase 5a Neighboring gene myotubularin related protein 2 Neighboring gene gap junction protein, alpha 2 Neighboring gene TBC1 domain family member 8B

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. The connexin 30.3 of zebrafish homologue of human connexin 26 may play similar role in the inner ear. Chang-Chien J, et al. Hear Res, 2014 Jul. PMID 24811980
    2. Hippocampal-like circuitry in the pallium of an electric fish: Possible substrates for recursive pattern separation and completion. Elliott SB, et al. J Comp Neurol, 2017 Jan 1. PMID 27292574
    3. Molecular diversity of connexin and pannexin genes in the retina of the zebrafish Danio rerio. Zoidl G, et al. Cell Commun Adhes, 2008 May. PMID 18649188
    4. A zebrafish model for Waardenburg syndrome type IV reveals diverse roles for Sox10 in the otic vesicle. Dutton K, et al. Dis Model Mech, 2009 Jan-Feb. PMID 19132125, Free PMC Article
    5. Cx23, a connexin with only four extracellular-loop cysteines, forms functional gap junction channels and hemichannels. Iovine MK, et al. FEBS Lett, 2008 Jan 23. PMID 18068130, Free PMC Article

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by ZFIN

    Function Evidence Code Pubs
    enables gap junction channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within cell communication IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cell-cell signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in anchoring junction IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of connexin complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of connexin complex IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in gap junction IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    connexin 27.5
    Names
    connexin 29

    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)

    1. NM_001362429.1 → NP_001349358.1  connexin 27.5 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      AL929305
      UniProtKB/TrEMBL
      F6NVG3, Q2VJ88, Q9DF29
      Related
      ENSDARP00000108204.2, ENSDART00000121504.3
      Conserved Domains (1) summary
      pfam00029
      Location:2 → 213
      Connexin; Connexin

    2. NM_131811.3 → NP_571886.2  connexin 27.5 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AL929305, EH442469
      UniProtKB/TrEMBL
      Q2VJ87
      Related
      ENSDARP00000051538.3, ENSDART00000051539.5

    RefSeqs of Annotated Genomes: GCF_000002035.6-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCz11 Primary Assembly

    Genomic

    1. NC_007116.7 Reference GRCz11 Primary Assembly

      Range
      23622177..23628071
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version

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