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

Complete GO annotation...

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.

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	128574. 1 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	ENSGT00860000133694.
HOGENOMⁱ	HOG000112113.
HOVERGENⁱ	HBG062544.
InParanoidⁱ	Q96KN9.
KEGG Orthology (KO) More...KOⁱ	K07630.
OMAⁱ	NVCYDVF.
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G0GK6.
PhylomeDBⁱ	Q96KN9.
TreeFamⁱ	TF329606.

Family and domain databases

InterProⁱ	View protein in InterPro IPR000500. Connexin. IPR019570. Connexin_CCC. IPR017990. Connexin_CS. IPR013092. Connexin_N.
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

Protein	Similar proteins	Organisms	Length	Cluster ID	Cluster name	Size
Q96KN9	G3QST2 H2NA61 H2Q1T5 G1S963	Homo sapiens (Human) Gorilla gorilla gorilla (Western lowland gorilla) Pongo abelii (Sumatran orangutan) (Pongo pygmaeus abelii) Pan troglodytes (Chimpanzee) Nomascus leucogenys (Northern white-cheeked gibbon) (Hylobates leucogenys)	370	UniRef90_Q96KN9	Cluster: Gap junction delta-4 protein	5

Protein	Similar proteins	Organisms	Length	Cluster ID	Cluster name	Size
Q96KN9	G3QST2 H2NA61 H2Q1T5 G1S963 M3Y3X1 M1ET40 UPI0005FBC2AE W5P4K2 UPI00029D63FA UPI000846D393 +50	Homo sapiens (Human) Gorilla gorilla gorilla (Western lowland gorilla) Pongo abelii (Sumatran orangutan) (Pongo pygmaeus abelii) Pan troglodytes (Chimpanzee) Nomascus leucogenys (Northern white-cheeked gibbon) (Hylobates leucogenys) Mustela putorius furo (European domestic ferret) (Mustela furo) Ovis aries musimon (Mouflon) Ovis aries (Sheep) Capra hircus (Goat) Odocoileus virginianus texanus And more	370	UniRef50_Q96KN9	Cluster: Gap junction delta-4 protein	61

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	128574. 1 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	ENSGT00860000133694.
HOGENOMⁱ	HOG000112113.
HOVERGENⁱ	HBG062544.
InParanoidⁱ	Q96KN9.
KEGG Orthology (KO) More...KOⁱ	K07630.
OMAⁱ	NVCYDVF.
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

InterProⁱ	View protein in InterPro IPR000500. Connexin. IPR019570. Connexin_CCC. IPR017990. Connexin_CS. IPR013092. Connexin_N.
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:	September 27, 2017
	This is version 121 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

Human chromosome 10
Human chromosome 10: entries, gene names and cross-references to MIM
Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations
Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations
MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
SIMILARITY comments
Index of protein domains and families

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

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including length and molecular weight.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequencei

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

Documents

Functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Pathology & Biotechⁱ

PTM / Processingⁱ

Expressionⁱ

Interactionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence similaritiesⁱ

Sequenceⁱ

Cross-referencesⁱ

Entry informationⁱ

Miscellaneousⁱ