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Protein

Gap junction gamma-1 protein

Gene

GJC1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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.

GO - Molecular functioni

GO - Biological processi

Enzyme and pathway databases

ReactomeiR-HSA-112303 Electric Transmission Across Gap Junctions
R-HSA-190861 Gap junction assembly

Protein family/group databases

TCDBi1.A.24.2.4 the gap junction-forming connexin (connexin) family

Names & Taxonomyi

Protein namesi
Recommended name:
Gap junction gamma-1 protein
Alternative name(s):
Connexin-45
Short name:
Cx45
Gap junction alpha-7 protein
Gene namesi
Name:GJC1
Synonyms:GJA7
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

EuPathDBiHostDB:ENSG00000182963.9
HGNCiHGNC:4280 GJC1
MIMi608655 gene
neXtProtiNX_P36383

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 22CytoplasmicSequence analysisAdd BLAST22
Transmembranei23 – 45HelicalSequence analysisAdd BLAST23
Topological domaini46 – 75ExtracellularSequence analysisAdd BLAST30
Transmembranei76 – 95HelicalSequence analysisAdd BLAST20
Topological domaini96 – 175CytoplasmicSequence analysisAdd BLAST80
Transmembranei176 – 198HelicalSequence analysisAdd BLAST23
Topological domaini199 – 228ExtracellularSequence analysisAdd BLAST30
Transmembranei229 – 248HelicalSequence analysisAdd BLAST20
Topological domaini249 – 396CytoplasmicSequence analysisAdd BLAST148

Keywords - Cellular componenti

Cell junction, Cell membrane, Gap junction, Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi10052
OpenTargetsiENSG00000182963
PharmGKBiPA164741588

Polymorphism and mutation databases

BioMutaiGJC1
DMDMi226693517

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000578261 – 396Gap junction gamma-1 proteinAdd BLAST396

Proteomic databases

EPDiP36383
MaxQBiP36383
PaxDbiP36383
PeptideAtlasiP36383
PRIDEiP36383
ProteomicsDBi55181

PTM databases

iPTMnetiP36383
PhosphoSitePlusiP36383

Expressioni

Gene expression databases

BgeeiENSG00000182963 Expressed in 183 organ(s), highest expression level in neocortex
CleanExiHS_GJC1
ExpressionAtlasiP36383 baseline and differential
GenevisibleiP36383 HS

Organism-specific databases

HPAiHPA071788

Interactioni

Subunit structurei

A connexon is composed of a hexamer of connexins. Interacts with CNST (By similarity).By similarity

Protein-protein interaction databases

BioGridi115363, 15 interactors
ELMiP36383
IntActiP36383, 4 interactors
STRINGi9606.ENSP00000333193

Structurei

3D structure databases

ProteinModelPortaliP36383
SMRiP36383
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the connexin family. Gamma-type subfamily.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IFK3 Eukaryota
ENOG410Z7PN LUCA
GeneTreeiENSGT00910000143998
HOGENOMiHOG000231126
HOVERGENiHBG009576
InParanoidiP36383
KOiK07616
OMAiIMYGVSC
OrthoDBiEOG091G08B8
PhylomeDBiP36383
TreeFamiTF329606

Family and domain databases

Gene3Di1.20.1440.80, 1 hit
InterProiView protein in InterPro
IPR000500 Connexin
IPR002265 Connexin45
IPR019570 Connexin_CCC
IPR017990 Connexin_CS
IPR013092 Connexin_N
IPR038359 Connexin_N_sf
PANTHERiPTHR11984 PTHR11984, 1 hit
PfamiView protein in Pfam
PF00029 Connexin, 1 hit
PRINTSiPR00206 CONNEXIN
PR01136 CONNEXINA6
SMARTiView protein in SMART
SM00037 CNX, 1 hit
SM01089 Connexin_CCC, 1 hit
PROSITEiView protein in PROSITE
PS00407 CONNEXINS_1, 1 hit
PS00408 CONNEXINS_2, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 5 potential isoforms that are computationally mapped.Show allAlign All

P36383-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MSWSFLTRLL EEIHNHSTFV GKIWLTVLIV FRIVLTAVGG ESIYYDEQSK
60 70 80 90 100
FVCNTEQPGC ENVCYDAFAP LSHVRFWVFQ IILVATPSVM YLGYAIHKIA
110 120 130 140 150
KMEHGEADKK AARSKPYAMR WKQHRALEET EEDNEEDPMM YPEMELESDK
160 170 180 190 200
ENKEQSQPKP KHDGRRRIRE DGLMKIYVLQ LLARTVFEVG FLIGQYFLYG
210 220 230 240 250
FQVHPFYVCS RLPCPHKIDC FISRPTEKTI FLLIMYGVTG LCLLLNIWEM
260 270 280 290 300
LHLGFGTIRD SLNSKRRELE DPGAYNYPFT WNTPSAPPGY NIAVKPDQIQ
310 320 330 340 350
YTELSNAKIA YKQNKANTAQ EQQYGSHEEN LPADLEALQR EIRMAQERLD
360 370 380 390
LAVQAYSHQN NPHGPREKKA KVGSKAGSNK STASSKSGDG KTSVWI
Length:396
Mass (Da):45,470
Last modified:April 14, 2009 - v2
Checksum:iC9F67C1D926D40DF
GO

Computationally mapped potential isoform sequencesi

There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q5H9P2Q5H9P2_HUMAN
Gap junction protein
GJC1 DKFZp686P0738
260Annotation score:
K7EQ14K7EQ14_HUMAN
Gap junction gamma-1 protein
GJC1
72Annotation score:
K7EM78K7EM78_HUMAN
Gap junction gamma-1 protein
GJC1
103Annotation score:
K7ENT9K7ENT9_HUMAN
Gap junction gamma-1 protein
GJC1
70Annotation score:
K7ERH3K7ERH3_HUMAN
Gap junction gamma-1 protein
GJC1
113Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti382T → A in BAG54030 (PubMed:14702039).Curated1
Sequence conflicti392T → N in AAA60458 (PubMed:7966354).Curated1
Sequence conflicti392T → N in AAH96213 (PubMed:15489334).Curated1
Sequence conflicti392T → N in AAH96214 (PubMed:15489334).Curated1
Sequence conflicti392T → N in AAH96215 (PubMed:15489334).Curated1
Sequence conflicti392T → N in AAH96216 (PubMed:15489334).Curated1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U03493 Genomic DNA Translation: AAA60458.1
AK124339 mRNA Translation: BAG54030.1
AC005180 Genomic DNA No translation available.
BC096213 mRNA Translation: AAH96213.1
BC096214 mRNA Translation: AAH96214.1
BC096215 mRNA Translation: AAH96215.1
BC096216 mRNA Translation: AAH96216.1
CCDSiCCDS11487.1
PIRiI38430
RefSeqiNP_001073852.1, NM_001080383.1
NP_005488.2, NM_005497.3
XP_005256977.1, XM_005256920.1
XP_005256978.1, XM_005256921.1
UniGeneiHs.712052
Hs.744748

Genome annotation databases

EnsembliENST00000330514; ENSP00000333193; ENSG00000182963
ENST00000426548; ENSP00000411528; ENSG00000182963
ENST00000590758; ENSP00000466339; ENSG00000182963
ENST00000592524; ENSP00000467201; ENSG00000182963
GeneIDi10052
KEGGihsa:10052
UCSCiuc002ihj.4 human

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U03493 Genomic DNA Translation: AAA60458.1
AK124339 mRNA Translation: BAG54030.1
AC005180 Genomic DNA No translation available.
BC096213 mRNA Translation: AAH96213.1
BC096214 mRNA Translation: AAH96214.1
BC096215 mRNA Translation: AAH96215.1
BC096216 mRNA Translation: AAH96216.1
CCDSiCCDS11487.1
PIRiI38430
RefSeqiNP_001073852.1, NM_001080383.1
NP_005488.2, NM_005497.3
XP_005256977.1, XM_005256920.1
XP_005256978.1, XM_005256921.1
UniGeneiHs.712052
Hs.744748

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3SHWX-ray2.90B387-396[»]
ProteinModelPortaliP36383
SMRiP36383
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115363, 15 interactors
ELMiP36383
IntActiP36383, 4 interactors
STRINGi9606.ENSP00000333193

Protein family/group databases

TCDBi1.A.24.2.4 the gap junction-forming connexin (connexin) family

PTM databases

iPTMnetiP36383
PhosphoSitePlusiP36383

Polymorphism and mutation databases

BioMutaiGJC1
DMDMi226693517

Proteomic databases

EPDiP36383
MaxQBiP36383
PaxDbiP36383
PeptideAtlasiP36383
PRIDEiP36383
ProteomicsDBi55181

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000330514; ENSP00000333193; ENSG00000182963
ENST00000426548; ENSP00000411528; ENSG00000182963
ENST00000590758; ENSP00000466339; ENSG00000182963
ENST00000592524; ENSP00000467201; ENSG00000182963
GeneIDi10052
KEGGihsa:10052
UCSCiuc002ihj.4 human

Organism-specific databases

CTDi10052
DisGeNETi10052
EuPathDBiHostDB:ENSG00000182963.9
GeneCardsiGJC1
HGNCiHGNC:4280 GJC1
HPAiHPA071788
MIMi608655 gene
neXtProtiNX_P36383
OpenTargetsiENSG00000182963
PharmGKBiPA164741588
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IFK3 Eukaryota
ENOG410Z7PN LUCA
GeneTreeiENSGT00910000143998
HOGENOMiHOG000231126
HOVERGENiHBG009576
InParanoidiP36383
KOiK07616
OMAiIMYGVSC
OrthoDBiEOG091G08B8
PhylomeDBiP36383
TreeFamiTF329606

Enzyme and pathway databases

ReactomeiR-HSA-112303 Electric Transmission Across Gap Junctions
R-HSA-190861 Gap junction assembly

Miscellaneous databases

ChiTaRSiGJC1 human
GeneWikiiGJC1
GenomeRNAii10052
PROiPR:P36383
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000182963 Expressed in 183 organ(s), highest expression level in neocortex
CleanExiHS_GJC1
ExpressionAtlasiP36383 baseline and differential
GenevisibleiP36383 HS

Family and domain databases

Gene3Di1.20.1440.80, 1 hit
InterProiView protein in InterPro
IPR000500 Connexin
IPR002265 Connexin45
IPR019570 Connexin_CCC
IPR017990 Connexin_CS
IPR013092 Connexin_N
IPR038359 Connexin_N_sf
PANTHERiPTHR11984 PTHR11984, 1 hit
PfamiView protein in Pfam
PF00029 Connexin, 1 hit
PRINTSiPR00206 CONNEXIN
PR01136 CONNEXINA6
SMARTiView protein in SMART
SM00037 CNX, 1 hit
SM01089 Connexin_CCC, 1 hit
PROSITEiView protein in PROSITE
PS00407 CONNEXINS_1, 1 hit
PS00408 CONNEXINS_2, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiCXG1_HUMAN
AccessioniPrimary (citable) accession number: P36383
Secondary accession number(s): B3KW68, Q4VAY0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 1, 1994
Last sequence update: April 14, 2009
Last modified: September 12, 2018
This is version 163 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  4. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
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Main funding by: National Institutes of Health

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