GJC1

Protein identityUniProt · HPA

UniProt accession

P36383

Gene

GJC1

Ensembl

ENSG00000182963

Chromosome

17

Canonical length

396 aa

Protein class

Predicted intracellular proteins, Predicted membrane proteins, Transporters

Subcellular location

Nucleoplasm,Endoplasmic reticulum,Plasma membrane

OverviewNCBI Gene

This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. Alternatively spliced transcript variants encoding the same isoform have been described. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

396 residues, UniProt reviewed canonical sequence.

>P36383|GJC1
     1  MSWSFLTRLL EEIHNHSTFV GKIWLTVLIV FRIVLTAVGG ESIYYDEQSK FVCNTEQPGC
    61  ENVCYDAFAP LSHVRFWVFQ IILVATPSVM YLGYAIHKIA KMEHGEADKK AARSKPYAMR
   121  WKQHRALEET EEDNEEDPMM YPEMELESDK ENKEQSQPKP KHDGRRRIRE DGLMKIYVLQ
   181  LLARTVFEVG FLIGQYFLYG FQVHPFYVCS RLPCPHKIDC FISRPTEKTI FLLIMYGVTG
   241  LCLLLNIWEM LHLGFGTIRD SLNSKRRELE DPGAYNYPFT WNTPSAPPGY NIAVKPDQIQ
   301  YTELSNAKIA YKQNKANTAQ EQQYGSHEEN LPADLEALQR EIRMAQERLD LAVQAYSHQN
   361  NPHGPREKKA KVGSKAGSNK STASSKSGDG KTSVWI

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against GJC1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Cell surface

Secreted

No

Transmembrane segments

4

Mean surface accessibility (rSASA)

0.48

Highest tissue expression

38 nTPM

Expression across tissuesHPA

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.22

gnomAD pLI

0.99

gnomAD missense Z

2.07

DepMap mean gene effect

-0.16

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• atrial cardiac muscle cell action potential
• AV node cell to bundle of His cell communication by electrical coupling
• cardiac muscle tissue development
• cell development
• cell-cell junction assembly
• cell-cell signaling
• chemical synaptic transmission
• gap junction assembly
• muscle contraction
• SA node cell to atrial cardiac muscle cell communication by electrical coupling
• vasculogenesis
• visual perception

Molecular functions

• gap junction channel activity
• gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling
• gap junction channel activity involved in SA node cell-atrial cardiac muscle cell electrical coupling
• monoatomic ion channel activity

Cellular components

• connexin complex
• endoplasmic reticulum
• endoplasmic reticulum membrane
• gap junction
• intercalated disc
• nucleoplasm
• plasma membrane
• synapse

Protein domainsUniProt · Pfam · InterPro

• Connexin
• Connexin, N-terminal
• Connexin, conserved site
• Connexin, cysteine-rich domain
• Connexin, N-terminal domain superfamily
• Connexin
• Gap junction alpha-6 protein (Cx45)

KeywordsUniProt

• Cell junction
• Cell membrane
• Gap junction
• Immunity
• Innate immunity
• Membrane
• Transmembrane
• Transmembrane helix

InteractionsUniProt · HPA

Protein binding partners of GJC1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• CNST