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GJD3 gap junction protein delta 3 [ Homo sapiens (human) ]

Gene ID: 125111, updated on 1-Jun-2020

Summary

Official Symbol
GJD3provided by HGNC
Official Full Name
gap junction protein delta 3provided by HGNC
Primary source
HGNC:HGNC:19147
See related
Ensembl:ENSG00000183153 MIM:607425
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
GJC1; GJA11; CX31.9; Cx30.2
Summary
This gene is a member of the large family of connexins that are required for the formation of gap junctions. Six connexin monomers form a hemichannel, or connexon, on the cell surface. This connexon can interact with a connexon from a neighboring cell, thus forming a channel linking the cytoplasm of the 2 cells. [provided by RefSeq, Jul 2008]
Orthologs

Genomic context

See GJD3 in Genome Data Viewer
Location:
17q21.2
Exon count:
1
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (40360652..40364737, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (38516904..38520945, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371934 Neighboring gene retinoic acid receptor alpha Neighboring gene RARA antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 13940 Neighboring gene peptidylprolyl isomerase A pseudogene 54 Neighboring gene RNA, 5S ribosomal pseudogene 441

Genomic regions, transcripts, and products

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
gap junction channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
NOT gap junction channel activity involved in cardiac conduction electrical coupling NAS
Non-traceable Author Statement
more info
PubMed 
ion channel activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cell communication TAS
Traceable Author Statement
more info
PubMed 
cell communication by electrical coupling involved in cardiac conduction IEA
Inferred from Electronic Annotation
more info
 
NOT cell communication involved in cardiac conduction IEP
Inferred from Expression Pattern
more info
PubMed 
cell-cell signaling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
gap junction assembly IDA
Inferred from Direct Assay
more info
PubMed 
ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
response to glucose IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cell surface IDA
Inferred from Direct Assay
more info
PubMed 
connexin complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
connexin complex IDA
Inferred from Direct Assay
more info
PubMed 
integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
gap junction delta-3 protein
Names
connexin-31.9
gap junction alpha-11 protein
gap junction chi-1 protein
gap junction protein, delta 3, 31.9kDa

NCBI Reference Sequences (RefSeq)

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_152219.4NP_689343.3  gap junction delta-3 protein

    See identical proteins and their annotated locations for NP_689343.3

    Status: VALIDATED

    Source sequence(s)
    AC080112
    Consensus CDS
    CCDS58547.1
    UniProtKB/Swiss-Prot
    Q8N144
    Related
    ENSP00000463752.1, ENST00000578689.2
    Conserved Domains (3) summary
    smart00037
    Location:4476
    CNX; Connexin homologues
    smart01089
    Location:147212
    Connexin_CCC; Gap junction channel protein cysteine-rich domain
    pfam00029
    Location:3214
    Connexin; Connexin

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    40360652..40364737 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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