Human Gene GJB5 (ENST00000338513.1) from GENCODE V44
  Description: Homo sapiens gap junction protein beta 5 (GJB5), mRNA. (from RefSeq NM_005268)
RefSeq Summary (NM_005268): 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].
Gencode Transcript: ENST00000338513.1
Gencode Gene: ENSG00000189280.3
Transcript (Including UTRs)
   Position: hg38 chr1:34,755,047-34,758,512 Size: 3,466 Total Exon Count: 2 Strand: +
Coding Region
   Position: hg38 chr1:34,757,331-34,758,152 Size: 822 Coding Exon Count: 1 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr1:34,755,047-34,758,512)mRNA (may differ from genome)Protein (273 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=Gap junction beta-5 protein; AltName: Full=Connexin-31.1; Short=Cx31.1;
FUNCTION: One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell.
SUBUNIT: A connexon is composed of a hexamer of connexins.
SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein. Cell junction, gap junction.
SIMILARITY: Belongs to the connexin family. Beta-type (group I) subfamily.

-  Primer design for this transcript

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 63.33 RPKM in Skin - Not Sun Exposed (Suprapubic)
Total median expression: 229.70 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -60.30173-0.349 Picture PostScript Text
3' UTR -144.30360-0.401 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000500 - Connexin
IPR002270 - Connexin311
IPR019570 - Connexin_CCC
IPR017990 - Connexin_CS
IPR013092 - Connexin_N

Pfam Domains:
PF00029 - Connexin
PF10582 - n/a

ModBase Predicted Comparative 3D Structure on O95377
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
Protein SequenceProtein Sequence    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Biological Process:
GO:0007154 cell communication
GO:0008544 epidermis development
GO:0060707 trophoblast giant cell differentiation
GO:0060708 spongiotrophoblast differentiation
GO:0060713 labyrinthine layer morphogenesis

Cellular Component:
GO:0005886 plasma membrane
GO:0005921 gap junction
GO:0005922 connexin complex
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030054 cell junction

-  Descriptions from all associated GenBank mRNAs
  AK129509 - Homo sapiens cDNA FLJ25998 fis, clone DMC06928, highly similar to Gap junction beta-5 protein.
AF052693 - Homo sapiens connexin 31.1 (GJB5) mRNA, complete cds.
BC004379 - Homo sapiens gap junction protein, beta 5, 31.1kDa, mRNA (cDNA clone MGC:10657 IMAGE:3639452), complete cds.
JD293713 - Sequence 274737 from Patent EP1572962.
AB463669 - Synthetic construct DNA, clone: pF1KB7114, Homo sapiens GJB5 gene for gap junction protein, beta 5, 31.1kDa, without stop codon, in Flexi system.
HQ447375 - Synthetic construct Homo sapiens clone IMAGE:100070696; CCSB004316_01 gap junction protein, beta 5 (GJB5) gene, encodes complete protein.
KJ891249 - Synthetic construct Homo sapiens clone ccsbBroadEn_00643 GJB5 gene, encodes complete protein.
JD544379 - Sequence 525403 from Patent EP1572962.
JD344789 - Sequence 325813 from Patent EP1572962.
JD145803 - Sequence 126827 from Patent EP1572962.
JD376859 - Sequence 357883 from Patent EP1572962.
JD078392 - Sequence 59416 from Patent EP1572962.
JD151618 - Sequence 132642 from Patent EP1572962.
JD298182 - Sequence 279206 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein O95377 (Reactome details) participates in the following event(s):

R-HSA-190861 Gap junction assembly
R-HSA-190828 Gap junction trafficking
R-HSA-157858 Gap junction trafficking and regulation
R-HSA-199991 Membrane Trafficking
R-HSA-5653656 Vesicle-mediated transport

-  Other Names for This Gene
  Alternate Gene Symbols: CXB5_HUMAN, NM_005268, O95377, Q9UPA3, uc001bxu.1, uc001bxu.2, uc001bxu.3, uc001bxu.4
UCSC ID: ENST00000338513.1
RefSeq Accession: NM_005268
Protein: O95377 (aka CXB5_HUMAN)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.