GJD4

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 - Biological processⁱ

cell communication Source: InterPro
regulation of satellite cell activation involved in skeletal muscle regeneration Source: Ensembl

View the complete GO annotation on QuickGO ...

Enzyme and pathway databases

Reactomeⁱ	R-HSA-190861 Gap junction assembly

Reactomeⁱ

R-HSA-190861 Gap junction assembly

Protein family/group databases

TCDBⁱ	1.A.24.1.8 the gap junction-forming connexin (connexin) family

TCDBⁱ

1.A.24.1.8 the gap junction-forming connexin (connexin) family

Names & Taxonomyⁱ

Protein namesⁱ	Recommended name: Gap junction delta-4 protein Alternative name(s): Connexin-40.1 Short name: Cx40.1
Gene namesⁱ	Name:GJD4 Synonyms:CX40.1
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 10

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000177291.3
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:23296 GJD4
MIMⁱ	611922 gene
neXtProtⁱ	NX_Q96KN9

Topology

Feature key	Position(s)	DescriptionActions	Length
Topological domainⁱ	1 – 19	CytoplasmicSequence analysisAdd BLAST	19
Transmembraneⁱ	20 – 40	HelicalSequence analysisAdd BLAST	21
Topological domainⁱ	41 – 76	ExtracellularSequence analysisAdd BLAST	36
Transmembraneⁱ	77 – 97	HelicalSequence analysisAdd BLAST	21
Topological domainⁱ	98 – 146	CytoplasmicSequence analysisAdd BLAST	49
Transmembraneⁱ	147 – 167	HelicalSequence analysisAdd BLAST	21
Topological domainⁱ	168 – 196	ExtracellularSequence analysisAdd BLAST	29
Transmembraneⁱ	197 – 217	HelicalSequence analysisAdd BLAST	21
Topological domainⁱ	218 – 370	CytoplasmicSequence analysisAdd BLAST	153

Keywords - Cellular componentⁱ

Cell junction, Cell membrane, Gap junction, Membrane

Pathology & Biotechⁱ

Organism-specific databases

Open Targets More...OpenTargetsⁱ	ENSG00000177291
PharmGKBⁱ	PA162389714

Polymorphism and mutation databases

BioMutaⁱ	GJD4
DMDMⁱ	74751985

PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	DescriptionActions	Graphical view	Length
ChainⁱPRO_0000312991	1 – 370	Gap junction delta-4 proteinAdd BLAST		370

Proteomic databases

PaxDbⁱ	Q96KN9
PeptideAtlas More...PeptideAtlasⁱ	Q96KN9
PRIDEⁱ	Q96KN9

PTM databases

iPTMnetⁱ	Q96KN9
PhosphoSitePlusⁱ	Q96KN9

Expressionⁱ

Tissue specificityⁱ

Expressed in pancreas, kidney, skeletal muscle, liver, placenta, and heart.1 Publication

Gene expression databases

Bgeeⁱ	ENSG00000177291
CleanExⁱ	HS_GJD4
Genevisibleⁱ	Q96KN9 HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	HPA038266

HPAⁱ

HPA038266

Interactionⁱ

Subunit structureⁱ

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

Protein-protein interaction databases

BioGridⁱ	1285741 interactor.
STRINGⁱ	9606.ENSP00000315070

Structureⁱ

3D structure databases

ProteinModelPortalⁱ	Q96KN9
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Family & Domainsⁱ

Sequence similaritiesⁱ

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

Keywords - Domainⁱ

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGⁱ	ENOG410IEKW Eukaryota ENOG4111ING LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00910000144026
HOGENOMⁱ	HOG000112113
HOVERGENⁱ	HBG062544
InParanoidⁱ	Q96KN9
KEGG Orthology (KO) More...KOⁱ	K07630
OMAⁱ	SVVDCYV
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G0GK6
PhylomeDBⁱ	Q96KN9
TreeFamⁱ	TF329606

Family and domain databases

Gene3Dⁱ	1.20.1440.801 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 PS00407 CONNEXINS_1, 1 hit PS00408 CONNEXINS_2, 1 hit

Sequenceⁱ

Sequence statusⁱ: Complete.

Q96KN9-1 [UniParc]FASTA Add to basket

« Hide

        10         20         30         40         50
MEGVDLLGFL IITLNCNVTM VGKLWFVLTM LLRMLVIVLA GRPVYQDEQE 
        60         70         80         90        100
RFVCNTLQPG CANVCYDVFS PVSHLRFWLI QGVCVLLPSA VFSVYVLHRG 
       110        120        130        140        150
ATLAALGPRR CPDPREPASG QRRCPRPFGE RGGLQVPDFS AGYIIHLLLR 
       160        170        180        190        200
TLLEAAFGAL HYFLFGFLAP KKFPCTRPPC TGVVDCYVSR PTEKSLLMLF 
       210        220        230        240        250
LWAVSALSFL LGLADLVCSL RRRMRRRPGP PTSPSIRKQS GASGHAEGRR 
       260        270        280        290        300
TDEEGGREEE GAPAPPGARA GGEGAGSPRR TSRVSGHTKI PDEDESEVTS 
       310        320        330        340        350
SASEKLGRQP RGRPHREAAQ DPRGSGSEEQ PSAAPSRLAA PPSCSSLQPP 
       360        370
DPPASSSGAP HLRARKSEWV

Length:370

Mass (Da):40,140

Last modified:December 1, 2001 - v1

Checksum:ⁱCD49F31743A7F7C2

GO

Experimental Info

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Sequence conflictⁱ	205	S → G in BAC11028 (PubMed:16303743).Curated		1

Natural variant

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_047626	90	A → V. Corresponds to variant dbSNP:rs35398622Ensembl.	1
Natural variantⁱVAR_037640	269	R → H in a colorectal cancer sample; somatic mutation. 1 Publication	1
Natural variantⁱVAR_037641	271	G → R in a colorectal cancer sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs773395724Ensembl.	1

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	AJ414564 mRNA Translation: CAC93846.1 AK074504 mRNA Translation: BAC11028.1 AL121749 Genomic DNA No translation available. CH471072 Genomic DNA Translation: EAW85910.1
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS7191.1
NCBI Reference Sequences More...RefSeqⁱ	NP_699199.2, NM_153368.2
UniGeneⁱ	Hs.638922 Hs.670506

Genome annotation databases

Ensemblⁱ	ENST00000321660; ENSP00000315070; ENSG00000177291
GeneIDⁱ	219770
KEGGⁱ	hsa:219770
UCSC genome browser More...UCSCⁱ	uc001iyy.1 human

Keywords - Coding sequence diversityⁱ

Polymorphism

Similar proteinsⁱ

90% Identity
50% Identity

Protein	Similar proteins	Organisms	Length	Cluster ID	Cluster name	Size
Q96KN9	A0A2J8U317 H2NA61 H2Q1T5 A0A2J8MMU0 G3QST2 G1S963	Pongo abelii (Sumatran orangutan) (Pongo pygmaeus abelii) Pan troglodytes (Chimpanzee) Gorilla gorilla gorilla (Western lowland gorilla) Nomascus leucogenys (Northern white-cheeked gibbon) (Hylobates leucogenys)	370	UniRef90_Q96KN9	Cluster: Gap junction delta-4 protein	7

Protein	Similar proteins	Organisms	Length	Cluster ID	Cluster name	Size
Q96KN9	G3QST2 H2Q1T5 A0A2J8MMU0 A0A2J8U317 H2NA61 G1S963 UPI0000EBD4D0 W5P4K2 UPI00029D63FA UPI000A1BF3B2 +57	Gorilla gorilla gorilla (Western lowland gorilla) Pan troglodytes (Chimpanzee) Pongo abelii (Sumatran orangutan) (Pongo pygmaeus abelii) Nomascus leucogenys (Northern white-cheeked gibbon) (Hylobates leucogenys) Bos taurus (Bovine) Ovis aries (Sheep) Odocoileus virginianus texanus Ovis aries musimon (Mouflon) Capra hircus (Goat) Bubalus bubalis (Domestic water buffalo) And more	370	UniRef50_Q96KN9	Cluster: Gap junction delta-4 protein	68

Cross-referencesⁱ

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	AJ414564 mRNA Translation: CAC93846.1 AK074504 mRNA Translation: BAC11028.1 AL121749 Genomic DNA No translation available. CH471072 Genomic DNA Translation: EAW85910.1
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS7191.1
NCBI Reference Sequences More...RefSeqⁱ	NP_699199.2, NM_153368.2
UniGeneⁱ	Hs.638922 Hs.670506

3D structure databases

ProteinModelPortalⁱ	Q96KN9
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Protein-protein interaction databases

BioGridⁱ	1285741 interactor.
STRINGⁱ	9606.ENSP00000315070

Protein family/group databases

TCDBⁱ	1.A.24.1.8 the gap junction-forming connexin (connexin) family

TCDBⁱ

1.A.24.1.8 the gap junction-forming connexin (connexin) family

PTM databases

iPTMnetⁱ	Q96KN9
PhosphoSitePlusⁱ	Q96KN9

Polymorphism and mutation databases

BioMutaⁱ	GJD4
DMDMⁱ	74751985

Proteomic databases

PaxDbⁱ	Q96KN9
PeptideAtlas More...PeptideAtlasⁱ	Q96KN9
PRIDEⁱ	Q96KN9

Protocols and materials databases

The DNASU plasmid repository More...DNASUⁱ	219770
Structural Biology Knowledgebase	Search...

Genome annotation databases

Ensemblⁱ	ENST00000321660; ENSP00000315070; ENSG00000177291
GeneIDⁱ	219770
KEGGⁱ	hsa:219770
UCSC genome browser More...UCSCⁱ	uc001iyy.1 human

Organism-specific databases

CTDⁱ	219770
EuPathDBⁱ	HostDB:ENSG00000177291.3
GeneCardsⁱ	GJD4
H-InvDBⁱ	HIX0201548
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:23296 GJD4
Human Protein Atlas More...HPAⁱ	HPA038266
MIMⁱ	611922 gene
neXtProtⁱ	NX_Q96KN9
Open Targets More...OpenTargetsⁱ	ENSG00000177291
PharmGKBⁱ	PA162389714
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	ENOG410IEKW Eukaryota ENOG4111ING LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00910000144026
HOGENOMⁱ	HOG000112113
HOVERGENⁱ	HBG062544
InParanoidⁱ	Q96KN9
KEGG Orthology (KO) More...KOⁱ	K07630
OMAⁱ	SVVDCYV
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G0GK6
PhylomeDBⁱ	Q96KN9
TreeFamⁱ	TF329606

Enzyme and pathway databases

Reactomeⁱ	R-HSA-190861 Gap junction assembly

Reactomeⁱ

R-HSA-190861 Gap junction assembly

Miscellaneous databases

GeneWikiⁱ	GJD4
GenomeRNAiⁱ	219770
Protein Ontology More...PROⁱ	PR:Q96KN9
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000177291
CleanExⁱ	HS_GJD4
Genevisibleⁱ	Q96KN9 HS

Family and domain databases

Gene3Dⁱ	1.20.1440.801 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 PS00407 CONNEXINS_1, 1 hit PS00408 CONNEXINS_2, 1 hit
ProtoNetⁱ	Search...

Entry informationⁱ

Entry nameⁱ	CXD4_HUMAN
Accessionⁱ	Q96KN9Primary (citable) accession number: Q96KN9 Secondary accession number(s): Q8N2R7
Entry historyⁱ	Integrated into UniProtKB/Swiss-Prot:	January 15, 2008
	Last sequence update:	December 1, 2001
	Last modified:	March 28, 2018
	This is version 124 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

UniProtKB

UniParc

Help

UniRef

Proteomes

Annotation systems

Supporting data

UniProtKB - Q96KN9 (CXD4_HUMAN)

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Gap junction delta-4 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 - Biological processi

Enzyme and pathway databases

Protein family/group 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

PTM 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

Organism-specific 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

<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

Phylogenomic databases

Family and domain databases

Experimental Info

Natural variant

Sequence databases

Genome annotation databases

<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

Protein family/group databases

PTM 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

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Functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Pathology & Biotechⁱ

PTM / Processingⁱ

Expressionⁱ

Interactionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence similaritiesⁱ

Cross-referencesⁱ

Entry informationⁱ

Miscellaneousⁱ