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Protein

Gap junction gamma-3 protein

Gene

GJC3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at transcript 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.By similarity

GO - Molecular functioni

GO - Biological processi

Protein family/group databases

TCDBi1.A.24.1.7 the gap junction-forming connexin (connexin) family

Names & Taxonomyi

Protein namesi
Recommended name:
Gap junction gamma-3 protein
Alternative name(s):
Connexin-30.2
Short name:
Cx30.2
Connexin-31.3
Short name:
Cx31.3
Gap junction epsilon-1 protein
Gene namesi
Name:GJC3
Synonyms:GJE1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

EuPathDBiHostDB:ENSG00000176402.5
HGNCiHGNC:17495 GJC3
MIMi611925 gene
neXtProtiNX_Q8NFK1

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 – 43HelicalSequence analysisAdd BLAST21
Topological domaini44 – 75ExtracellularSequence analysisAdd BLAST32
Transmembranei76 – 96HelicalSequence analysisAdd BLAST21
Topological domaini97 – 132CytoplasmicSequence analysisAdd BLAST36
Transmembranei133 – 153HelicalSequence analysisAdd BLAST21
Topological domaini154 – 194ExtracellularSequence analysisAdd BLAST41
Transmembranei195 – 215HelicalSequence analysisAdd BLAST21
Topological domaini216 – 279CytoplasmicSequence analysisAdd BLAST64

Keywords - Cellular componenti

Cell junction, Cell membrane, Gap junction, Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi349149
OpenTargetsiENSG00000176402
PharmGKBiPA162389705

Polymorphism and mutation databases

BioMutaiGJC3
DMDMi32171365

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000578741 – 279Gap junction gamma-3 proteinAdd BLAST279

Proteomic databases

PaxDbiQ8NFK1
PeptideAtlasiQ8NFK1
PRIDEiQ8NFK1
ProteomicsDBi73321

PTM databases

iPTMnetiQ8NFK1
PhosphoSitePlusiQ8NFK1

Expressioni

Tissue specificityi

CNS specific. Expression is restricted to brain, spinal cord, and sciatic nerve. According to PubMed:12881038, expression is abundant in skeletal muscle, liver, and heart, and to a minor degree in pancreas and kidney.2 Publications

Gene expression databases

BgeeiENSG00000176402 Expressed in 77 organ(s), highest expression level in tibial nerve
CleanExiHS_GJC3

Organism-specific databases

HPAiHPA015024

Interactioni

Subunit structurei

A connexon is composed of a hexamer of connexins.By similarity

GO - Molecular functioni

Protein-protein interaction databases

IntActiQ8NFK1, 2 interactors
STRINGi9606.ENSP00000325775

Structurei

3D structure databases

ProteinModelPortaliQ8NFK1
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

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

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410J8Q3 Eukaryota
ENOG4111D69 LUCA
GeneTreeiENSGT00910000144026
HOGENOMiHOG000231127
HOVERGENiHBG107788
InParanoidiQ8NFK1
KOiK07628
OMAiGCKAACY
OrthoDBiEOG091G06LA
PhylomeDBiQ8NFK1
TreeFamiTF329606

Family and domain databases

Gene3Di1.20.1440.80, 1 hit
InterProiView protein in InterPro
IPR000500 Connexin
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
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

Sequencei

Sequence statusi: Complete.

Q8NFK1-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MCGRFLRRLL AEESRRSTPV GRLLLPVLLG FRLVLLAASG PGVYGDEQSE
60 70 80 90 100
FVCHTQQPGC KAACFDAFHP LSPLRFWVFQ VILVAVPSAL YMGFTLYHVI
110 120 130 140 150
WHWELSGKGK EEETLIQGRE GNTDVPGAGS LRLLWAYVAQ LGARLVLEGA
160 170 180 190 200
ALGLQYHLYG FQMPSSFACR REPCLGSITC NLSRPSEKTI FLKTMFGVSG
210 220 230 240 250
FCLLFTFLEL VLLGLGRWWR TWKHKSSSSK YFLTSESTRR HKKATDSLPV
260 270
VETKEQFQEA VPGRSLAQEK QRPVGPRDA
Length:279
Mass (Da):31,299
Last modified:October 1, 2002 - v1
Checksum:i71810BB8E30533BC
GO

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF503615 mRNA Translation: AAM21145.1
AY297109 mRNA Translation: AAP51161.1
CH236956 Genomic DNA Translation: EAL23863.1
CH471091 Genomic DNA Translation: EAW76624.1
BC043381 mRNA Translation: AAH43381.1
CCDSiCCDS34697.1
RefSeqiNP_853516.1, NM_181538.2
UniGeneiHs.647524

Genome annotation databases

EnsembliENST00000312891; ENSP00000325775; ENSG00000176402
GeneIDi349149
KEGGihsa:349149
UCSCiuc011kjd.2 human

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF503615 mRNA Translation: AAM21145.1
AY297109 mRNA Translation: AAP51161.1
CH236956 Genomic DNA Translation: EAL23863.1
CH471091 Genomic DNA Translation: EAW76624.1
BC043381 mRNA Translation: AAH43381.1
CCDSiCCDS34697.1
RefSeqiNP_853516.1, NM_181538.2
UniGeneiHs.647524

3D structure databases

ProteinModelPortaliQ8NFK1
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

IntActiQ8NFK1, 2 interactors
STRINGi9606.ENSP00000325775

Protein family/group databases

TCDBi1.A.24.1.7 the gap junction-forming connexin (connexin) family

PTM databases

iPTMnetiQ8NFK1
PhosphoSitePlusiQ8NFK1

Polymorphism and mutation databases

BioMutaiGJC3
DMDMi32171365

Proteomic databases

PaxDbiQ8NFK1
PeptideAtlasiQ8NFK1
PRIDEiQ8NFK1
ProteomicsDBi73321

Protocols and materials databases

DNASUi349149
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000312891; ENSP00000325775; ENSG00000176402
GeneIDi349149
KEGGihsa:349149
UCSCiuc011kjd.2 human

Organism-specific databases

CTDi349149
DisGeNETi349149
EuPathDBiHostDB:ENSG00000176402.5
GeneCardsiGJC3
HGNCiHGNC:17495 GJC3
HPAiHPA015024
MIMi611925 gene
neXtProtiNX_Q8NFK1
OpenTargetsiENSG00000176402
PharmGKBiPA162389705
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410J8Q3 Eukaryota
ENOG4111D69 LUCA
GeneTreeiENSGT00910000144026
HOGENOMiHOG000231127
HOVERGENiHBG107788
InParanoidiQ8NFK1
KOiK07628
OMAiGCKAACY
OrthoDBiEOG091G06LA
PhylomeDBiQ8NFK1
TreeFamiTF329606

Miscellaneous databases

GeneWikiiGJC3
GenomeRNAii349149
PROiPR:Q8NFK1
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000176402 Expressed in 77 organ(s), highest expression level in tibial nerve
CleanExiHS_GJC3

Family and domain databases

Gene3Di1.20.1440.80, 1 hit
InterProiView protein in InterPro
IPR000500 Connexin
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
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 nameiCXG3_HUMAN
AccessioniPrimary (citable) accession number: Q8NFK1
Secondary accession number(s): A4D296, Q86XI9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 20, 2003
Last sequence update: October 1, 2002
Last modified: November 7, 2018
This is version 132 of the entry and version 1 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

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 7
    Human chromosome 7: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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