Human Gene GJC1 (ENST00000592524.6_7) from GENCODE V47lift37
  Description: gap junction protein gamma 1, transcript variant 1 (from RefSeq NM_005497.4)
Gencode Transcript: ENST00000592524.6_7
Gencode Gene: ENSG00000182963.11_13
Transcript (Including UTRs)
   Position: hg19 chr17:42,875,816-42,907,655 Size: 31,840 Total Exon Count: 3 Strand: -
Coding Region
   Position: hg19 chr17:42,881,995-42,883,185 Size: 1,191 Coding Exon Count: 1 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:42,875,816-42,907,655)mRNA (may differ from genome)Protein (396 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: CXG1_HUMAN
DESCRIPTION: RecName: Full=Gap junction gamma-1 protein; AltName: Full=Connexin-45; Short=Cx45; AltName: Full=Gap junction alpha-7 protein;
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. Interacts with CNST (By similarity).
SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein. Cell junction, gap junction.
SIMILARITY: Belongs to the connexin family. Gamma-type 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


-  MalaCards Disease Associations
  MalaCards Gene Search: GJC1
Diseases sorted by gene-association score: sinoatrial node disease (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene
  • D014635 Valproic Acid
  • C111118 2',3,3',4',5-pentachloro-4-hydroxybiphenyl
  • C014024 2,4,5,2',4',5'-hexachlorobiphenyl
  • C532162 2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine
  • C111855 6-formylindolo(3,2-b)carbazole
  • D015123 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide
  • D000082 Acetaminophen
  • D001564 Benzo(a)pyrene
  • D002794 Choline
  • D003300 Copper
          more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 10.43 RPKM in Colon - Sigmoid
Total median expression: 102.66 RPKM



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

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -138.60322-0.430 Picture PostScript Text
3' UTR -2331.306179-0.377 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
IPR002265 - Connexin45
IPR019570 - Connexin_CCC
IPR017990 - Connexin_CS
IPR013092 - Connexin_N

Pfam Domains:
PF00029 - Connexin

SCOP Domains:
118220 - Connexin43

Protein Data Bank (PDB) 3-D Structure
MuPIT help
3SHW - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P36383
FrontTopSide
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
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005216 ion channel activity
GO:0005243 gap junction channel activity
GO:0086020 gap junction channel activity involved in SA node cell-atrial cardiac muscle cell electrical coupling
GO:0086077 gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling

Biological Process:
GO:0001570 vasculogenesis
GO:0006936 muscle contraction
GO:0007043 cell-cell junction assembly
GO:0007154 cell communication
GO:0007267 cell-cell signaling
GO:0007268 chemical synaptic transmission
GO:0007507 heart development
GO:0007601 visual perception
GO:0016264 gap junction assembly
GO:0034220 ion transmembrane transport
GO:0048468 cell development
GO:0048738 cardiac muscle tissue development
GO:0055085 transmembrane transport
GO:0086014 atrial cardiac muscle cell action potential
GO:0086021 SA node cell to atrial cardiac muscle cell communication by electrical coupling
GO:0086053 AV node cell to bundle of His cell communication by electrical coupling

Cellular Component:
GO:0005789 endoplasmic reticulum membrane
GO:0005886 plasma membrane
GO:0005921 gap junction
GO:0005922 connexin complex
GO:0014704 intercalated disc
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030054 cell junction


-  Descriptions from all associated GenBank mRNAs
  CR933719 - Homo sapiens mRNA; cDNA DKFZp686P0738 (from clone DKFZp686P0738).
AK098274 - Homo sapiens cDNA FLJ40955 fis, clone UTERU2011199.
AK095961 - Homo sapiens cDNA FLJ38642 fis, clone HHDPC2004757.
JD538320 - Sequence 519344 from Patent EP1572962.
JD308264 - Sequence 289288 from Patent EP1572962.
JD308263 - Sequence 289287 from Patent EP1572962.
JD117205 - Sequence 98229 from Patent EP1572962.
JD388318 - Sequence 369342 from Patent EP1572962.
JD321126 - Sequence 302150 from Patent EP1572962.
JD041379 - Sequence 22403 from Patent EP1572962.
JD169359 - Sequence 150383 from Patent EP1572962.
JD344176 - Sequence 325200 from Patent EP1572962.
JD379774 - Sequence 360798 from Patent EP1572962.
JD120607 - Sequence 101631 from Patent EP1572962.
JD220458 - Sequence 201482 from Patent EP1572962.
JD545033 - Sequence 526057 from Patent EP1572962.
AK124339 - Homo sapiens cDNA FLJ42348 fis, clone UTERU2003973, highly similar to Gap junction alpha-7 protein.
DQ591299 - Homo sapiens piRNA piR-58411, complete sequence.
BC096213 - Homo sapiens gap junction protein, gamma 1, 45kDa, mRNA (cDNA clone MGC:116866 IMAGE:40004800), complete cds.
BC096214 - Homo sapiens gap junction protein, gamma 1, 45kDa, mRNA (cDNA clone MGC:116867 IMAGE:40004801), complete cds.
BC096215 - Homo sapiens gap junction protein, gamma 1, 45kDa, mRNA (cDNA clone MGC:116868 IMAGE:40004803), complete cds.
BC096216 - Homo sapiens gap junction protein, gamma 1, 45kDa, mRNA (cDNA clone MGC:116869 IMAGE:40004809), complete cds.
KJ898144 - Synthetic construct Homo sapiens clone ccsbBroadEn_07538 GJC1 gene, encodes complete protein.
AB463671 - Synthetic construct DNA, clone: pF1KB7166, Homo sapiens GJA7 gene for gap junction protein, gamma 1, 45kDa, without stop codon, in Flexi system.
JD021318 - Sequence 2342 from Patent EP1572962.
JD036304 - Sequence 17328 from Patent EP1572962.
JD036106 - Sequence 17130 from Patent EP1572962.
MA807539 - JP 2018529759-A/1: Connexin 45 Inhibition for Therapy.

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

Protein P36383 (Reactome details) participates in the following event(s):

R-HSA-375330 Connexin 45/Connexin 36 mediated neuronal gap junction communication
R-HSA-190861 Gap junction assembly
R-HSA-190828 Gap junction trafficking
R-HSA-157858 Gap junction trafficking and regulation
R-HSA-112303 Electric Transmission Across Gap Junctions
R-HSA-199991 Membrane Trafficking
R-HSA-112307 Transmission across Electrical Synapses
R-HSA-5653656 Vesicle-mediated transport
R-HSA-112316 Neuronal System

-  Other Names for This Gene
  Alternate Gene Symbols: B3KW68, CXG1_HUMAN, ENST00000592524.1, ENST00000592524.2, ENST00000592524.3, ENST00000592524.4, ENST00000592524.5, GJA7, NM_005497, P36383, Q4VAY0, uc326xsp.1, uc326xsp.2
UCSC ID: ENST00000592524.6_7
RefSeq Accession: NM_005497.4
Protein: P36383 (aka CXG1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

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