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Protein

Gap junction delta-4 protein

Gene

GJD4

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at transcript 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 - Biological processi

Complete GO annotation...

Enzyme and pathway databases

ReactomeiREACT_9509. Gap junction assembly.

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
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome 10

Organism-specific databases

HGNCiHGNC:23296. GJD4.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 1919CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei20 – 4021HelicalSequence AnalysisAdd
BLAST
Topological domaini41 – 7636ExtracellularSequence AnalysisAdd
BLAST
Transmembranei77 – 9721HelicalSequence AnalysisAdd
BLAST
Topological domaini98 – 14649CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei147 – 16721HelicalSequence AnalysisAdd
BLAST
Topological domaini168 – 19629ExtracellularSequence AnalysisAdd
BLAST
Transmembranei197 – 21721HelicalSequence AnalysisAdd
BLAST
Topological domaini218 – 370153CytoplasmicSequence AnalysisAdd
BLAST

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cell junction, Cell membrane, Gap junction, Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA162389714.

Polymorphism and mutation databases

BioMutaiGJD4.
DMDMi74751985.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 370370Gap junction delta-4 proteinPRO_0000312991Add
BLAST

Proteomic databases

PaxDbiQ96KN9.
PRIDEiQ96KN9.

PTM databases

PhosphoSiteiQ96KN9.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiQ96KN9.
CleanExiHS_GJD4.
GenevisibleiQ96KN9. HS.

Organism-specific databases

HPAiHPA038266.

Interactioni

Subunit structurei

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

Protein-protein interaction databases

BioGridi128574. 1 interaction.
STRINGi9606.ENSP00000315070.

Structurei

3D structure databases

ProteinModelPortaliQ96KN9.
SMRiQ96KN9. Positions 3-222.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

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

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG39258.
GeneTreeiENSGT00800000124042.
HOGENOMiHOG000112113.
HOVERGENiHBG062544.
InParanoidiQ96KN9.
KOiK07630.
OMAiANVCYDV.
OrthoDBiEOG78PV9Q.
PhylomeDBiQ96KN9.
TreeFamiTF329606.

Family and domain databases

InterProiIPR000500. Connexin.
IPR019570. Connexin_CCC.
IPR017990. Connexin_CS.
IPR013092. Connexin_N.
[Graphical view]
PANTHERiPTHR11984. PTHR11984. 1 hit.
PfamiPF00029. Connexin. 1 hit.
PF10582. Connexin_CCC. 1 hit.
[Graphical view]
PRINTSiPR00206. CONNEXIN.
SMARTiSM00037. CNX. 1 hit.
SM01089. Connexin_CCC. 1 hit.
[Graphical view]
PROSITEiPS00407. CONNEXINS_1. 1 hit.
PS00408. CONNEXINS_2. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q96KN9-1 [UniParc]FASTAAdd 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 keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti205 – 2051S → G in BAC11028 (PubMed:16303743).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti90 – 901A → V.
Corresponds to variant rs35398622 [ dbSNP | Ensembl ].
VAR_047626
Natural varianti269 – 2691R → H in a colorectal cancer sample; somatic mutation. 1 Publication
VAR_037640
Natural varianti271 – 2711G → R in a colorectal cancer sample; somatic mutation. 1 Publication
VAR_037641

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ414564 mRNA. Translation: CAC93846.1.
AK074504 mRNA. Translation: BAC11028.1.
AL121749 Genomic DNA. Translation: CAH73708.1.
CH471072 Genomic DNA. Translation: EAW85910.1.
CCDSiCCDS7191.1.
RefSeqiNP_699199.2. NM_153368.2.
UniGeneiHs.638922.
Hs.670506.

Genome annotation databases

EnsembliENST00000321660; ENSP00000315070; ENSG00000177291.
GeneIDi219770.
KEGGihsa:219770.
UCSCiuc001iyy.1. human.

Keywords - Coding sequence diversityi

Polymorphism

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. Translation: CAH73708.1.
CH471072 Genomic DNA. Translation: EAW85910.1.
CCDSiCCDS7191.1.
RefSeqiNP_699199.2. NM_153368.2.
UniGeneiHs.638922.
Hs.670506.

3D structure databases

ProteinModelPortaliQ96KN9.
SMRiQ96KN9. Positions 3-222.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi128574. 1 interaction.
STRINGi9606.ENSP00000315070.

Chemistry

GuidetoPHARMACOLOGYi727.

PTM databases

PhosphoSiteiQ96KN9.

Polymorphism and mutation databases

BioMutaiGJD4.
DMDMi74751985.

Proteomic databases

PaxDbiQ96KN9.
PRIDEiQ96KN9.

Protocols and materials databases

DNASUi219770.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000321660; ENSP00000315070; ENSG00000177291.
GeneIDi219770.
KEGGihsa:219770.
UCSCiuc001iyy.1. human.

Organism-specific databases

CTDi219770.
GeneCardsiGC10P035894.
H-InvDBHIX0201548.
HGNCiHGNC:23296. GJD4.
HPAiHPA038266.
MIMi611922. gene.
neXtProtiNX_Q96KN9.
PharmGKBiPA162389714.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG39258.
GeneTreeiENSGT00800000124042.
HOGENOMiHOG000112113.
HOVERGENiHBG062544.
InParanoidiQ96KN9.
KOiK07630.
OMAiANVCYDV.
OrthoDBiEOG78PV9Q.
PhylomeDBiQ96KN9.
TreeFamiTF329606.

Enzyme and pathway databases

ReactomeiREACT_9509. Gap junction assembly.

Miscellaneous databases

GeneWikiiGJD4.
GenomeRNAii219770.
NextBioi90746.
PROiQ96KN9.
SOURCEiSearch...

Gene expression databases

BgeeiQ96KN9.
CleanExiHS_GJD4.
GenevisibleiQ96KN9. HS.

Family and domain databases

InterProiIPR000500. Connexin.
IPR019570. Connexin_CCC.
IPR017990. Connexin_CS.
IPR013092. Connexin_N.
[Graphical view]
PANTHERiPTHR11984. PTHR11984. 1 hit.
PfamiPF00029. Connexin. 1 hit.
PF10582. Connexin_CCC. 1 hit.
[Graphical view]
PRINTSiPR00206. CONNEXIN.
SMARTiSM00037. CNX. 1 hit.
SM01089. Connexin_CCC. 1 hit.
[Graphical view]
PROSITEiPS00407. CONNEXINS_1. 1 hit.
PS00408. CONNEXINS_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Structural and functional diversity of connexin genes in the mouse and human genome."
    Willecke K., Eiberger J., Degen J., Eckardt D., Romualdi A., Guldenagel M., Deutsch U., Soehl G.
    Biol. Chem. 383:725-737(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  2. "Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries."
    Otsuki T., Ota T., Nishikawa T., Hayashi K., Suzuki Y., Yamamoto J., Wakamatsu A., Kimura K., Sakamoto K., Hatano N., Kawai Y., Ishii S., Saito K., Kojima S., Sugiyama T., Ono T., Okano K., Yoshikawa Y.
    , Aotsuka S., Sasaki N., Hattori A., Okumura K., Nagai K., Sugano S., Isogai T.
    DNA Res. 12:117-126(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  3. "The DNA sequence and comparative analysis of human chromosome 10."
    Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J.
    , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.
    Nature 429:375-381(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "Expression profiles of the novel human connexin genes hCx30.2, hCx40.1, and hCx62 differ from their putative mouse orthologues."
    Soehl G., Nielsen P.A., Eiberger J., Willecke K.
    Cell Commun. Adhes. 10:27-36(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: TISSUE SPECIFICITY.
  6. Cited for: VARIANTS [LARGE SCALE ANALYSIS] HIS-269 AND ARG-271.

Entry informationi

Entry nameiCXD4_HUMAN
AccessioniPrimary (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: July 22, 2015
This is version 105 of the entry and version 1 of the sequence. [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

Documents

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

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.