GJD3

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: Ensembl
ion channel activity Source: Ensembl

View the complete GO annotation on QuickGO ...

GO - Biological processⁱ

cell communication
Source: UniProtKB
Traceable author statementⁱ
- 12154091
cell communication by electrical coupling involved in cardiac conduction Source: GOC
gap junction assembly
Source: UniProtKB
Inferred from direct assayⁱ
- 12154091
response to glucose Source: Ensembl

View the complete GO annotation on QuickGO ...

Enzyme and pathway databases

Reactomeⁱ	R-HSA-190861 Gap junction assembly
SignaLinkⁱ	Q8N144

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
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 17

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000183153.6
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:19147 GJD3
MIMⁱ	607425 gene
neXtProtⁱ	NX_Q8N144

Topology

Feature key	Position(s)	DescriptionActions	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, Membrane

Pathology & Biotechⁱ

Organism-specific databases

DisGeNET More...DisGeNETⁱ	125111
Open Targets More...OpenTargetsⁱ	ENSG00000183153
PharmGKBⁱ	PA162389707

Polymorphism and mutation databases

DMDMⁱ	74750879

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

PaxDbⁱ	Q8N144
PeptideAtlas More...PeptideAtlasⁱ	Q8N144
PRIDEⁱ	Q8N144
ProteomicsDBⁱ	71553 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 49 organ(s), highest expression level in apex of heart
CleanExⁱ	HS_GJC1 HS_GJD3
Genevisibleⁱ	Q8N144 HS

Interactionⁱ

Subunit structureⁱ

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

Binary interactionsⁱ

With	Entry	#Exp.	IntAct	Notes
TJP1	Q07157	2	EBI-2629520,EBI-79553

With

Entry

#Exp.

IntAct

Notes

TJP1

Q07157

2

EBI-2629520,EBI-79553

Protein-protein interaction databases

BioGridⁱ	125915, 1 interactor
IntActⁱ	Q8N144, 1 interactor
STRINGⁱ	9606.ENSP00000336832

Structureⁱ

3D structure databases

ProteinModelPortalⁱ	Q8N144
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Family & Domainsⁱ

Compositional bias

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Compositional biasⁱ	239 – 270	Pro-richAdd BLAST		32

Sequence similaritiesⁱ

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

Keywords - Domainⁱ

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGⁱ	ENOG410IEGI Eukaryota ENOG4111HI4 LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00910000144026
HOGENOMⁱ	HOG000231127
HOVERGENⁱ	HBG009576
InParanoidⁱ	Q8N144
KEGG Orthology (KO) More...KOⁱ	K07627
OMAⁱ	GHLLWKG
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G0KR7
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
Pfam protein domain database More...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

Sequences (2)ⁱ

Sequence statusⁱ: Complete.

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

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

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

« 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 PPPPPIVVTW 
       260        270        280        290 
EENRHLQGEG SPGSPHPKTE LDAPRFRRES TSPAGWHCSL PFHGT

Note: No experimental confirmation available.

Show »

Length:295

Mass (Da):32,571

Checksum:ⁱB5D3D5F56196BC55

GO

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
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS58547.1 [Q8N144-1]
NCBI Reference Sequences More...RefSeqⁱ	NP_689343.3, NM_152219.3 [Q8N144-1]
UniGeneⁱ	Hs.444663

Genome annotation databases

Ensemblⁱ	ENST00000578689; ENSP00000463752; ENSG00000183153 [Q8N144-1]
GeneIDⁱ	125111
KEGGⁱ	hsa:125111
UCSC genome browser More...UCSCⁱ	uc010cwz.4 human [Q8N144-1]

Keywords - Coding sequence diversityⁱ

Alternative splicing

Similar proteinsⁱ

90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
Q8N144	Gap junction protein		NOMLE		298	UniRef90_Q8N144
Gap junction protein		PAPAN		295
Gap junction protein		PONAB		294
Gap junction protein		MACNE		294
Gap junction protein		PANTR		293
+12
Q8N144-2	Gap junction protein		PONAB		296	UniRef90_Q8N144-2

Protein	Similar proteins		Species	Score	Length	Source
Q8N144	Gap junction delta-3 protein		MOUSE		278	UniRef50_Q8N144
Gap junction protein		NOMLE		298
Gap junction protein		PAPAN		295
Gap junction protein		MACNE		294
Gap junction protein		PONAB		294
+74

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]
UniGeneⁱ	Hs.444663

3D structure databases

ProteinModelPortalⁱ	Q8N144
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Protein-protein interaction databases

BioGridⁱ	125915, 1 interactor
IntActⁱ	Q8N144, 1 interactor
STRINGⁱ	9606.ENSP00000336832

Polymorphism and mutation databases

DMDMⁱ	74750879

DMDMⁱ

74750879

Proteomic databases

PaxDbⁱ	Q8N144
PeptideAtlasⁱ	Q8N144
PRIDEⁱ	Q8N144
ProteomicsDBⁱ	71553 71554 [Q8N144-2]

Protocols and materials databases

The DNASU plasmid repository More...DNASUⁱ	125111
Structural Biology Knowledgebase	Search...

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
EuPathDBⁱ	HostDB:ENSG00000183153.6
GeneCardsⁱ	GJD3
H-InvDBⁱ	HIX0079908
HGNCⁱ	HGNC:19147 GJD3
MIMⁱ	607425 gene
neXtProtⁱ	NX_Q8N144
OpenTargetsⁱ	ENSG00000183153
PharmGKBⁱ	PA162389707
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	ENOG410IEGI Eukaryota ENOG4111HI4 LUCA
GeneTreeⁱ	ENSGT00910000144026
HOGENOMⁱ	HOG000231127
HOVERGENⁱ	HBG009576
InParanoidⁱ	Q8N144
KOⁱ	K07627
OMAⁱ	GHLLWKG
OrthoDBⁱ	EOG091G0KR7
PhylomeDBⁱ	Q8N144

Enzyme and pathway databases

Reactomeⁱ	R-HSA-190861 Gap junction assembly
SignaLinkⁱ	Q8N144

Miscellaneous databases

GeneWikiⁱ	GJD3
GenomeRNAiⁱ	125111
Protein Ontology More...PROⁱ	PR:Q8N144
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000183153 Expressed in 49 organ(s), highest expression level in apex of heart
CleanExⁱ	HS_GJC1 HS_GJD3
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...

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:	November 7, 2018
	This is version 120 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

Complete proteome, Reference proteome

Documents

SIMILARITY comments
Index of protein domains and families
MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
Human chromosome 17
Human chromosome 17: entries, gene names and cross-references to MIM

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Supporting data

UniProtKB - Q8N144 (CXD3_HUMAN)

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Gap junction delta-3 protein

Select a section on the left to see content.

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

Enzyme and pathway databases

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

Organism-specific databases

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Plasma membrane

Other locations

Plasma Membrane

Other locations

Topology

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Organism-specific databases

Polymorphism and mutation databases

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Proteomic databases

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Compositional bias

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

Phylogenomic databases

Family and domain databases

Alternative sequence

Sequence databases

Genome annotation databases

Keywords - Coding sequence diversityi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

3D structure databases

Protein-protein interaction databases

Polymorphism and mutation databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Documents

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Functionⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Pathology & Biotechⁱ

PTM / Processingⁱ

Expressionⁱ

Interactionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence similaritiesⁱ

Keywords - Domainⁱ

Keywords - Coding sequence diversityⁱ

Cross-referencesⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ