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Q96KN9 (CXD4_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 95. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Gap junction delta-4 protein
Alternative name(s):
Connexin-40.1
Short name=Cx40.1
Gene names
Name:GJD4
Synonyms:CX40.1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length370 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

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.

Subunit structure

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

Subcellular location

Cell membrane; Multi-pass membrane protein By similarity. Cell junctiongap junction By similarity.

Tissue specificity

Expressed in pancreas, kidney, skeletal muscle, liver, placenta, and heart. Ref.5

Sequence similarities

Belongs to the connexin family. Delta-type subfamily.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 370370Gap junction delta-4 protein
PRO_0000312991

Regions

Topological domain1 – 1919Cytoplasmic Potential
Transmembrane20 – 4021Helical; Potential
Topological domain41 – 7636Extracellular Potential
Transmembrane77 – 9721Helical; Potential
Topological domain98 – 14649Cytoplasmic Potential
Transmembrane147 – 16721Helical; Potential
Topological domain168 – 19629Extracellular Potential
Transmembrane197 – 21721Helical; Potential
Topological domain218 – 370153Cytoplasmic Potential

Natural variations

Natural variant901A → V.
Corresponds to variant rs35398622 [ dbSNP | Ensembl ].
VAR_047626
Natural variant2691R → H in a colorectal cancer sample; somatic mutation. Ref.6
VAR_037640
Natural variant2711G → R in a colorectal cancer sample; somatic mutation. Ref.6
VAR_037641

Experimental info

Sequence conflict2051S → G in BAC11028. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Q96KN9 [UniParc].

Last modified December 1, 2001. Version 1.
Checksum: CD49F31743A7F7C2

FASTA37040,140
        10         20         30         40         50         60 
MEGVDLLGFL IITLNCNVTM VGKLWFVLTM LLRMLVIVLA GRPVYQDEQE RFVCNTLQPG 

        70         80         90        100        110        120 
CANVCYDVFS PVSHLRFWLI QGVCVLLPSA VFSVYVLHRG ATLAALGPRR CPDPREPASG 

       130        140        150        160        170        180 
QRRCPRPFGE RGGLQVPDFS AGYIIHLLLR TLLEAAFGAL HYFLFGFLAP KKFPCTRPPC 

       190        200        210        220        230        240 
TGVVDCYVSR PTEKSLLMLF LWAVSALSFL LGLADLVCSL RRRMRRRPGP PTSPSIRKQS 

       250        260        270        280        290        300 
GASGHAEGRR TDEEGGREEE GAPAPPGARA GGEGAGSPRR TSRVSGHTKI PDEDESEVTS 

       310        320        330        340        350        360 
SASEKLGRQP RGRPHREAAQ DPRGSGSEEQ PSAAPSRLAA PPSCSSLQPP DPPASSSGAP 

       370 
HLRARKSEWV 

« Hide

References

« Hide 'large scale' references
[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. expand/collapse author list , 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. expand/collapse author list , 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]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
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]"The consensus coding sequences of human breast and colorectal cancers."
Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. expand/collapse author list , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E.
Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS [LARGE SCALE ANALYSIS] HIS-269 AND ARG-271.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AJ414564 mRNA. Translation: CAC93846.1.
AK074504 mRNA. Translation: BAC11028.1.
AL121749 Genomic DNA. Translation: CAH73708.1.
CH471072 Genomic DNA. Translation: EAW85910.1.
CCDSCCDS7191.1.
RefSeqNP_699199.2. NM_153368.2.
UniGeneHs.638922.
Hs.670506.

3D structure databases

ProteinModelPortalQ96KN9.
SMRQ96KN9. Positions 3-222.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid128574. 1 interaction.
STRING9606.ENSP00000315070.

Chemistry

GuidetoPHARMACOLOGY727.

PTM databases

PhosphoSiteQ96KN9.

Polymorphism databases

DMDM74751985.

Proteomic databases

PaxDbQ96KN9.
PRIDEQ96KN9.

Protocols and materials databases

DNASU219770.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000321660; ENSP00000315070; ENSG00000177291.
GeneID219770.
KEGGhsa:219770.
UCSCuc001iyy.1. human.

Organism-specific databases

CTD219770.
GeneCardsGC10P035894.
H-InvDBHIX0201548.
HGNCHGNC:23296. GJD4.
HPAHPA038266.
MIM611922. gene.
neXtProtNX_Q96KN9.
PharmGKBPA162389714.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG39258.
HOGENOMHOG000112113.
HOVERGENHBG062544.
InParanoidQ96KN9.
KOK07630.
OMAANVCYDV.
OrthoDBEOG78PV9Q.
PhylomeDBQ96KN9.
TreeFamTF329606.

Enzyme and pathway databases

ReactomeREACT_11123. Membrane Trafficking.

Gene expression databases

BgeeQ96KN9.
CleanExHS_GJD4.
GenevestigatorQ96KN9.

Family and domain databases

InterProIPR000500. Connexin.
IPR019570. Connexin_CCC.
IPR017990. Connexin_CS.
IPR013092. Connexin_N.
[Graphical view]
PANTHERPTHR11984. PTHR11984. 1 hit.
PfamPF00029. Connexin. 1 hit.
PF10582. Connexin_CCC. 1 hit.
[Graphical view]
PRINTSPR00206. CONNEXIN.
SMARTSM00037. CNX. 1 hit.
SM01089. Connexin_CCC. 1 hit.
[Graphical view]
PROSITEPS00407. CONNEXINS_1. 1 hit.
PS00408. CONNEXINS_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiGJD4.
GenomeRNAi219770.
NextBio90746.
PROQ96KN9.
SOURCESearch...

Entry information

Entry nameCXD4_HUMAN
AccessionPrimary (citable) accession number: Q96KN9
Secondary accession number(s): Q8N2R7
Entry history
Integrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: December 1, 2001
Last modified: July 9, 2014
This is version 95 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant 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 polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 10

Human chromosome 10: entries, gene names and cross-references to MIM