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

Gene ID: 125111, updated on 17-Jun-2024

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; AllianceGenome:HGNC:19147
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
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Genomic context

See GJD3 in Genome Data Viewer
Location:
17q21.2
Exon count:
1
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (40360652..40364737, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (41224164..41228249, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (38516904..38520989, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:38443891-38444698 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:38447656-38448242 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr17:38452145-38452660 Neighboring gene cell division cycle 6 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:38464859-38465744 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:38465745-38466628 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:38468218-38468718 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:38473742-38473951 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8484 Neighboring gene retinoic acid receptor alpha Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12140 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12141 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:38477303-38477887 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12142 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12143 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:38497666-38498244 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:38498280-38498830 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:38498831-38499380 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:38500481-38501031 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:38501032-38501581 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:38501582-38502132 Neighboring gene RARA antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:38509021-38509532 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8487 Neighboring gene Sharpr-MPRA regulatory region 13940 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8489 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8490 Neighboring gene GJD3 antisense RNA 1 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

Gene Ontology Provided by GOA

Component Evidence Code Pubs
located_in cell surface IDA
Inferred from Direct Assay
more info
PubMed 
part_of connexin complex IBA
Inferred from Biological aspect of Ancestor
more info
 
part_of connexin complex IDA
Inferred from Direct Assay
more info
PubMed 
located_in 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)

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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_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
    Q6ZUW6, Q8N144
    UniProtKB/TrEMBL
    A0A654IC68
    Related
    ENSP00000463752.1, ENST00000578689.2
    Conserved Domains (1) summary
    pfam00029
    Location:3214
    Connexin

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    41224164..41228249 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)