UniProtKB - Q8N144 (CXD3_HUMAN)
Protein
Gap junction delta-3 protein
Gene
GJD3
Organism
Homo sapiens (Human)
Status
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
- gap junction channel activity Source: GO_Central
- ion channel activity Source: Ensembl
GO - Biological processi
- cell-cell signaling Source: GO_Central
- cell communication Source: UniProtKB
- cell communication by electrical coupling involved in cardiac conduction Source: GOC
- gap junction assembly Source: UniProtKB
- response to glucose Source: Ensembl
Enzyme and pathway databases
PathwayCommonsi | Q8N144 |
Reactomei | R-HSA-190861, Gap junction assembly |
SignaLinki | Q8N144 |
Names & Taxonomyi
Protein namesi | Recommended name: Gap junction delta-3 proteinAlternative 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 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:19147, GJD3 |
MIMi | 607425, gene |
neXtProti | NX_Q8N144 |
VEuPathDBi | HostDB:ENSG00000183153.6 |
Subcellular locationi
Plasma membrane
- Cell membrane 1 Publication; Multi-pass membrane protein 1 Publication
Other locations
- gap junction 1 Publication
Plasma Membrane
- connexin complex Source: UniProtKB
- integral component of plasma membrane Source: UniProtKB
Other locations
- cell surface Source: UniProtKB
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 1 – 24 | CytoplasmicSequence analysisAdd BLAST | 24 | |
Transmembranei | 25 – 45 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 46 – 76 | ExtracellularSequence analysisAdd BLAST | 31 | |
Transmembranei | 77 – 97 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 98 – 136 | CytoplasmicSequence analysisAdd BLAST | 39 | |
Transmembranei | 137 – 157 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 158 – 188 | ExtracellularSequence analysisAdd BLAST | 31 | |
Transmembranei | 189 – 209 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 210 – 294 | CytoplasmicSequence analysisAdd BLAST | 85 |
Keywords - Cellular componenti
Cell junction, Cell membrane, Gap junction, MembranePathology & Biotechi
Organism-specific databases
DisGeNETi | 125111 |
OpenTargetsi | ENSG00000183153 |
PharmGKBi | PA162389707 |
Miscellaneous databases
Pharosi | Q8N144, Tbio |
Genetic variation databases
BioMutai | GJD3 |
DMDMi | 74750879 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000312990 | 1 – 294 | Gap junction delta-3 proteinAdd BLAST | 294 |
Proteomic databases
MassIVEi | Q8N144 |
PaxDbi | Q8N144 |
PeptideAtlasi | Q8N144 |
PRIDEi | Q8N144 |
ProteomicsDBi | 71553 [Q8N144-1] 71554 [Q8N144-2] |
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
Bgeei | ENSG00000183153, Expressed in adult mammalian kidney and 67 other tissues |
Genevisiblei | Q8N144, HS |
Organism-specific databases
HPAi | ENSG00000183153, Tissue enhanced (lymphoid) |
Interactioni
Subunit structurei
A connexon is composed of a hexamer of connexins (By similarity).
Interacts with TJP1.
By similarity1 PublicationBinary interactionsi
Q8N144
With | #Exp. | IntAct |
---|---|---|
TJP1 [Q07157] | 2 | EBI-2629520,EBI-79553 |
Protein-protein interaction databases
BioGRIDi | 125915, 1 interactor |
IntActi | Q8N144, 1 interactor |
STRINGi | 9606.ENSP00000463752 |
Miscellaneous databases
RNActi | Q8N144, protein |
Family & Domainsi
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 239 – 270 | Pro-richAdd BLAST | 32 |
Sequence similaritiesi
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | ENOG502R6H2, Eukaryota |
GeneTreei | ENSGT01010000222399 |
HOGENOMi | CLU_037388_4_2_1 |
InParanoidi | Q8N144 |
OMAi | RRARRCY |
OrthoDBi | 1263142at2759 |
PhylomeDBi | Q8N144 |
Family and domain databases
Gene3Di | 1.20.1440.80, 1 hit |
InterProi | View protein in InterPro IPR000500, Connexin IPR019570, Connexin_CCC IPR017990, Connexin_CS IPR013092, Connexin_N IPR038359, Connexin_N_sf |
PANTHERi | PTHR11984, PTHR11984, 1 hit |
Pfami | View protein in Pfam PF00029, Connexin, 1 hit |
PRINTSi | PR00206, CONNEXIN |
SMARTi | View protein in SMART SM00037, CNX, 1 hit SM01089, Connexin_CCC, 1 hit |
PROSITEi | View protein in PROSITE PS00408, CONNEXINS_2, 1 hit |
s (2)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketIsoform 1 (identifier: Q8N144-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_029984 | 246 – 294 | PPPAL…RDLAI → IVVTWEENRHLQGEGSPGSP HPKTELDAPRFRRESTSPAG WHCSLPFHGT in isoform 2. 1 PublicationAdd BLAST | 49 |
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 |
CCDSi | CCDS58547.1 [Q8N144-1] |
RefSeqi | NP_689343.3, NM_152219.3 [Q8N144-1] |
Genome annotation databases
Ensembli | ENST00000578689; ENSP00000463752; ENSG00000183153 [Q8N144-1] |
GeneIDi | 125111 |
KEGGi | hsa:125111 |
UCSCi | uc010cwz.4, human [Q8N144-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
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 |
CCDSi | CCDS58547.1 [Q8N144-1] |
RefSeqi | NP_689343.3, NM_152219.3 [Q8N144-1] |
3D structure databases
SMRi | Q8N144 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 125915, 1 interactor |
IntActi | Q8N144, 1 interactor |
STRINGi | 9606.ENSP00000463752 |
Genetic variation databases
BioMutai | GJD3 |
DMDMi | 74750879 |
Proteomic databases
MassIVEi | Q8N144 |
PaxDbi | Q8N144 |
PeptideAtlasi | Q8N144 |
PRIDEi | Q8N144 |
ProteomicsDBi | 71553 [Q8N144-1] 71554 [Q8N144-2] |
Protocols and materials databases
Antibodypediai | 51141, 33 antibodies |
DNASUi | 125111 |
Genome annotation databases
Ensembli | ENST00000578689; ENSP00000463752; ENSG00000183153 [Q8N144-1] |
GeneIDi | 125111 |
KEGGi | hsa:125111 |
UCSCi | uc010cwz.4, human [Q8N144-1] |
Organism-specific databases
CTDi | 125111 |
DisGeNETi | 125111 |
GeneCardsi | GJD3 |
HGNCi | HGNC:19147, GJD3 |
HPAi | ENSG00000183153, Tissue enhanced (lymphoid) |
MIMi | 607425, gene |
neXtProti | NX_Q8N144 |
OpenTargetsi | ENSG00000183153 |
PharmGKBi | PA162389707 |
VEuPathDBi | HostDB:ENSG00000183153.6 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502R6H2, Eukaryota |
GeneTreei | ENSGT01010000222399 |
HOGENOMi | CLU_037388_4_2_1 |
InParanoidi | Q8N144 |
OMAi | RRARRCY |
OrthoDBi | 1263142at2759 |
PhylomeDBi | Q8N144 |
Enzyme and pathway databases
PathwayCommonsi | Q8N144 |
Reactomei | R-HSA-190861, Gap junction assembly |
SignaLinki | Q8N144 |
Miscellaneous databases
BioGRID-ORCSi | 125111, 4 hits in 873 CRISPR screens |
ChiTaRSi | GJD3, human |
GeneWikii | GJD3 |
GenomeRNAii | 125111 |
Pharosi | Q8N144, Tbio |
PROi | PR:Q8N144 |
RNActi | Q8N144, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000183153, Expressed in adult mammalian kidney and 67 other tissues |
Genevisiblei | Q8N144, HS |
Family and domain databases
Gene3Di | 1.20.1440.80, 1 hit |
InterProi | View protein in InterPro IPR000500, Connexin IPR019570, Connexin_CCC IPR017990, Connexin_CS IPR013092, Connexin_N IPR038359, Connexin_N_sf |
PANTHERi | PTHR11984, PTHR11984, 1 hit |
Pfami | View protein in Pfam PF00029, Connexin, 1 hit |
PRINTSi | PR00206, CONNEXIN |
SMARTi | View protein in SMART SM00037, CNX, 1 hit SM01089, Connexin_CCC, 1 hit |
PROSITEi | View protein in PROSITE PS00408, CONNEXINS_2, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | CXD3_HUMAN | |
Accessioni | Q8N144Primary (citable) accession number: Q8N144 Secondary accession number(s): Q6ZUW6 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | January 15, 2008 |
Last sequence update: | October 1, 2002 | |
Last modified: | February 10, 2021 | |
This is version 136 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families - Human chromosome 17
Human chromosome 17: entries, gene names and cross-references to MIM