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Q96KN9

- CXD4_HUMAN

UniProt

Q96KN9 - CXD4_HUMAN

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Protein
Gap junction delta-4 protein
Gene
GJD4, CX40.1
Organism
Homo sapiens (Human)
Status
Reviewed - 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

  1. cell communication Source: InterPro
  2. regulation of satellite cell activation involved in skeletal muscle regeneration Source: Ensembl
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: Chromosome 10

Organism-specific databases

HGNCiHGNC:23296. GJD4.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 1919Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei20 – 4021Helical; Reviewed prediction
Add
BLAST
Topological domaini41 – 7636Extracellular Reviewed prediction
Add
BLAST
Transmembranei77 – 9721Helical; Reviewed prediction
Add
BLAST
Topological domaini98 – 14649Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei147 – 16721Helical; Reviewed prediction
Add
BLAST
Topological domaini168 – 19629Extracellular Reviewed prediction
Add
BLAST
Transmembranei197 – 21721Helical; Reviewed prediction
Add
BLAST
Topological domaini218 – 370153Cytoplasmic Reviewed prediction
Add
BLAST

GO - Cellular componenti

  1. connexon complex Source: InterPro
  2. integral component of membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Cell junction, Cell membrane, Gap junction, Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA162389714.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 370370Gap junction delta-4 protein
PRO_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.
GenevestigatoriQ96KN9.

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.

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG39258.
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

MEGVDLLGFL IITLNCNVTM VGKLWFVLTM LLRMLVIVLA GRPVYQDEQE    50
RFVCNTLQPG CANVCYDVFS PVSHLRFWLI QGVCVLLPSA VFSVYVLHRG 100
ATLAALGPRR CPDPREPASG QRRCPRPFGE RGGLQVPDFS AGYIIHLLLR 150
TLLEAAFGAL HYFLFGFLAP KKFPCTRPPC TGVVDCYVSR PTEKSLLMLF 200
LWAVSALSFL LGLADLVCSL RRRMRRRPGP PTSPSIRKQS GASGHAEGRR 250
TDEEGGREEE GAPAPPGARA GGEGAGSPRR TSRVSGHTKI PDEDESEVTS 300
SASEKLGRQP RGRPHREAAQ DPRGSGSEEQ PSAAPSRLAA PPSCSSLQPP 350
DPPASSSGAP HLRARKSEWV 370
Length:370
Mass (Da):40,140
Last modified:December 1, 2001 - v1
Checksum:iCD49F31743A7F7C2
GO

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 conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti205 – 2051S → G in BAC11028. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.

Polymorphism databases

DMDMi74751985.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AJ414564 mRNA. Translation: CAC93846.1 .
AK074504 mRNA. Translation: BAC11028.1 .
AL121749 Genomic DNA. Translation: CAH73708.1 .
CH471072 Genomic DNA. Translation: EAW85910.1 .
CCDSi CCDS7191.1.
RefSeqi NP_699199.2. NM_153368.2.
UniGenei Hs.638922.
Hs.670506.

3D structure databases

ProteinModelPortali Q96KN9.
SMRi Q96KN9. Positions 3-222.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 128574. 1 interaction.
STRINGi 9606.ENSP00000315070.

Chemistry

GuidetoPHARMACOLOGYi 727.

PTM databases

PhosphoSitei Q96KN9.

Polymorphism databases

DMDMi 74751985.

Proteomic databases

PaxDbi Q96KN9.
PRIDEi Q96KN9.

Protocols and materials databases

DNASUi 219770.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000321660 ; ENSP00000315070 ; ENSG00000177291 .
GeneIDi 219770.
KEGGi hsa:219770.
UCSCi uc001iyy.1. human.

Organism-specific databases

CTDi 219770.
GeneCardsi GC10P035894.
H-InvDB HIX0201548.
HGNCi HGNC:23296. GJD4.
HPAi HPA038266.
MIMi 611922. gene.
neXtProti NX_Q96KN9.
PharmGKBi PA162389714.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG39258.
HOGENOMi HOG000112113.
HOVERGENi HBG062544.
InParanoidi Q96KN9.
KOi K07630.
OMAi ANVCYDV.
OrthoDBi EOG78PV9Q.
PhylomeDBi Q96KN9.
TreeFami TF329606.

Enzyme and pathway databases

Reactomei REACT_9509. Gap junction assembly.

Miscellaneous databases

GeneWikii GJD4.
GenomeRNAii 219770.
NextBioi 90746.
PROi Q96KN9.
SOURCEi Search...

Gene expression databases

Bgeei Q96KN9.
CleanExi HS_GJD4.
Genevestigatori Q96KN9.

Family and domain databases

InterProi IPR000500. Connexin.
IPR019570. Connexin_CCC.
IPR017990. Connexin_CS.
IPR013092. Connexin_N.
[Graphical view ]
PANTHERi PTHR11984. PTHR11984. 1 hit.
Pfami PF00029. Connexin. 1 hit.
PF10582. Connexin_CCC. 1 hit.
[Graphical view ]
PRINTSi PR00206. CONNEXIN.
SMARTi SM00037. CNX. 1 hit.
SM01089. Connexin_CCC. 1 hit.
[Graphical view ]
PROSITEi PS00407. CONNEXINS_1. 1 hit.
PS00408. CONNEXINS_2. 1 hit.
[Graphical view ]
ProtoNeti Search...

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: September 3, 2014
This is version 96 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

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