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GJB5 gap junction protein beta 5 [ Homo sapiens (human) ]

Gene ID: 2709, updated on 26-May-2016
Official Symbol
GJB5provided by HGNC
Official Full Name
gap junction protein beta 5provided by HGNC
Primary source
HGNC:HGNC:4287
See related
Ensembl:ENSG00000189280 HPRD:06840; MIM:604493; Vega:OTTHUMG00000004053
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CX31.1
Summary
This gene encodes a member of the beta-type (group I) connexin family. The encoded protein is a gap junction protein involved in intercellular communication related to epidermal differentiation and environmental sensing. This gene has been linked to non-small cell lung cancer. [provided by RefSeq, Nov 2012]
Orthologs
Location:
1p35.1
Exon count:
2
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 1 NC_000001.11 (34755046..34758512)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (35220648..35224113)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378641 Neighboring gene microRNA 552 Neighboring gene uncharacterized LOC105378642 Neighboring gene uncharacterized LOC105378643 Neighboring gene gap junction protein beta 4 Neighboring gene gap junction protein beta 3

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
NHGRI GWA Catalog
  • Calcium Regulation in the Cardiac Cell, organism-specific biosystem (from WikiPathways)
    Calcium Regulation in the Cardiac Cell, organism-specific biosystemCalcium is a common signaling mechanism, as once it enters the cytoplasm it exerts allosteric regulatory affects on many enzymes and proteins. Calcium can act in signal transduction after influx resu...
  • Gap junction assembly, organism-specific biosystem (from REACTOME)
    Gap junction assembly, organism-specific biosystemThe assembly of gap junctions involves (1) synthesis of connexin polypeptides at endoplasmic reticulum membranes, (2) oligomerization into homomeric- and heteromeric gap junction connexons (hemi-chan...
  • Gap junction trafficking, organism-specific biosystem (from REACTOME)
    Gap junction trafficking, organism-specific biosystemGap junctions are intercellular communication channels formed from Cx (connexin) protein subunits (see Segretain and Falk 2004 and Evans et al. 2006 for comprehensive reviews). Connexins are transpor...
  • Gap junction trafficking and regulation, organism-specific biosystem (from REACTOME)
    Gap junction trafficking and regulation, organism-specific biosystemGap junctions are clusters of intercellular channels connecting adjacent cells and permitting the direct exchange of ions and small molecules between cells. These channels are composed of two hemicha...
  • Membrane Trafficking, organism-specific biosystem (from REACTOME)
    Membrane Trafficking, organism-specific biosystemThe secretory membrane system allows a cell to regulate delivery of newly synthesized proteins, carbohydrates, and lipids to the cell surface, a necessity for growth and homeostasis. The system is ma...
  • Vesicle-mediated transport, organism-specific biosystem (from REACTOME)
    Vesicle-mediated transport, organism-specific biosystemThe transit of proteins and other cargo through the cell requires a cellular transport process in which transported substances are moved in membrane-bounded vesicles. Transported substances are enclo...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
cell communication IEA
Inferred from Electronic Annotation
more info
 
epidermis development TAS
Traceable Author Statement
more info
PubMed 
labyrinthine layer morphogenesis IEA
Inferred from Electronic Annotation
more info
 
spongiotrophoblast differentiation IEA
Inferred from Electronic Annotation
more info
 
trophoblast giant cell differentiation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
connexon complex IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
gap junction beta-5 protein
Names
gap junction protein, beta 5 (connexin 31.1)
gap junction protein, beta 5, 31.1kDa
gap junctional protein cx31.1

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_005268.3NP_005259.1  gap junction beta-5 protein

    See identical proteins and their annotated locations for NP_005259.1

    Status: REVIEWED

    Source sequence(s)
    AA877961, AK129509, BC004379
    Consensus CDS
    CCDS382.1
    UniProtKB/Swiss-Prot
    O95377
    Related
    ENSP00000340811, OTTHUMP00000004186, ENST00000338513, OTTHUMT00000011561
    Conserved Domains (2) summary
    pfam00029
    Location:2107
    Connexin; Connexin
    smart01089
    Location:141208
    Connexin_CCC; Gap junction channel protein cysteine-rich domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p2 Primary Assembly

    Range
    34755046..34758512
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005270751.2XP_005270808.1  

    See identical proteins and their annotated locations for XP_005270808.1

    UniProtKB/Swiss-Prot
    O95377
    Conserved Domains (2) summary
    pfam00029
    Location:2107
    Connexin; Connexin
    smart01089
    Location:141208
    Connexin_CCC; Gap junction channel protein cysteine-rich domain

Alternate CHM1_1.1

Genomic

  1. NC_018912.2 Alternate CHM1_1.1

    Range
    35336342..35339807
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)