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Protein

Gap junction delta-3 protein

Gene

GJD3

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.By similarity

GO - Molecular functioni

GO - Biological processi

  • cell communication Source: UniProtKB
  • gap junction assembly Source: UniProtKB
  • response to glucose Source: Ensembl

Enzyme and pathway databases

ReactomeiR-HSA-190861 Gap junction assembly
SignaLinkiQ8N144

Names & Taxonomyi

Protein namesi
Recommended name:
Gap junction delta-3 protein
Alternative name(s):
Connexin-31.9
Short name:
Cx31.9
Gap junction alpha-11 protein
Gap junction chi-1 protein
Gene namesi
Name:GJD3
Synonyms:GJA11, GJC1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

EuPathDBiHostDB:ENSG00000183153.6
HGNCiHGNC:19147 GJD3
MIMi607425 gene
neXtProtiNX_Q8N144

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 – 24CytoplasmicSequence analysisAdd BLAST24
Transmembranei25 – 45HelicalSequence analysisAdd BLAST21
Topological domaini46 – 76ExtracellularSequence analysisAdd BLAST31
Transmembranei77 – 97HelicalSequence analysisAdd BLAST21
Topological domaini98 – 136CytoplasmicSequence analysisAdd BLAST39
Transmembranei137 – 157HelicalSequence analysisAdd BLAST21
Topological domaini158 – 188ExtracellularSequence analysisAdd BLAST31
Transmembranei189 – 209HelicalSequence analysisAdd BLAST21
Topological domaini210 – 294CytoplasmicSequence analysisAdd BLAST85

Keywords - Cellular componenti

Cell junction, Cell membrane, Gap junction, Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi125111
OpenTargetsiENSG00000183153
PharmGKBiPA162389707

Polymorphism and mutation databases

DMDMi74750879

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003129901 – 294Gap junction delta-3 proteinAdd BLAST294

Proteomic databases

PaxDbiQ8N144
PeptideAtlasiQ8N144
PRIDEiQ8N144

Expressioni

Tissue specificityi

Expressed in vascular smooth muscle cells. Found in heart, colon, and artery (at protein level). Found in cerebral cortex, heart, liver, lung, kidney, spleen and testis.2 Publications

Gene expression databases

BgeeiENSG00000183153
CleanExiHS_GJC1
HS_GJD3
GenevisibleiQ8N144 HS

Interactioni

Subunit structurei

A connexon is composed of a hexamer of connexins (By similarity). Interacts with TJP1.By similarity1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
TJP1Q071572EBI-2629520,EBI-79553

Protein-protein interaction databases

BioGridi125915, 1 interactor
IntActiQ8N144, 1 interactor
STRINGi9606.ENSP00000336832

Structurei

3D structure databases

ProteinModelPortaliQ8N144
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi239 – 270Pro-richAdd BLAST32

Sequence similaritiesi

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

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IEGI Eukaryota
ENOG4111HI4 LUCA
GeneTreeiENSGT00910000144026
HOGENOMiHOG000231127
HOVERGENiHBG009576
InParanoidiQ8N144
KOiK07627
OMAiCAGPPCP
OrthoDBiEOG091G0KR7
PhylomeDBiQ8N144

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
PS00408 CONNEXINS_2, 1 hit

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8N144-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MGEWAFLGSL LDAVQLQSPL VGRLWLVVML IFRILVLATV GGAVFEDEQE
60 70 80 90 100
EFVCNTLQPG CRQTCYDRAF PVSHYRFWLF HILLLSAPPV LFVVYSMHRA
110 120 130 140 150
GKEAGGAEAA AQCAPGLPEA QCAPCALRAR RARRCYLLSV ALRLLAELTF
160 170 180 190 200
LGGQALLYGF RVAPHFACAG PPCPHTVDCF VSRPTEKTVF VLFYFAVGLL
210 220 230 240 250
SALLSVAELG HLLWKGRPRA GERDNRCNRA HEEAQKLLPP PPPPPPPPAL
260 270 280 290
PSRRPGPEPC APPAYAHPAP ASLRECGSGR GKASPATGRR DLAI
Length:294
Mass (Da):31,933
Last modified:October 1, 2002 - v1
Checksum:i366110E85903B3CC
GO
Isoform 2 (identifier: Q8N144-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     246-294: PPPALPSRRP...PATGRRDLAI → IVVTWEENRH...WHCSLPFHGT

Note: No experimental confirmation available.
Show »
Length:295
Mass (Da):32,571
Checksum:iB5D3D5F56196BC55
GO

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_029984246 – 294PPPAL…RDLAI → IVVTWEENRHLQGEGSPGSP HPKTELDAPRFRRESTSPAG WHCSLPFHGT in isoform 2. 1 PublicationAdd BLAST49

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY093445 Genomic DNA Translation: AAM18801.1
AF514298 Genomic DNA Translation: AAM53649.1
AK125254 mRNA Translation: BAC86102.1
CH471152 Genomic DNA Translation: EAW60660.1
CCDSiCCDS58547.1 [Q8N144-1]
RefSeqiNP_689343.3, NM_152219.3 [Q8N144-1]
UniGeneiHs.444663

Genome annotation databases

EnsembliENST00000578689; ENSP00000463752; ENSG00000183153 [Q8N144-1]
GeneIDi125111
KEGGihsa:125111
UCSCiuc010cwz.4 human [Q8N144-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiCXD3_HUMAN
AccessioniPrimary (citable) accession number: Q8N144
Secondary accession number(s): Q6ZUW6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: October 1, 2002
Last modified: March 28, 2018
This is version 117 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
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health