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Protein

Gap junction delta-3 protein

Gene

GJD3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein 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 - Molecular functioni

GO - Biological processi

  • cell communication Source: UniProtKB
  • gap junction assembly Source: UniProtKB
  • response to glucose Source: Ensembl
Complete GO annotation...

Enzyme and pathway databases

ReactomeiREACT_9509. Gap junction assembly.
SignaLinkiQ8N144.

Names & Taxonomyi

Protein namesi
Recommended name:
Gap junction delta-3 protein
Alternative name(s):
Connexin-31.9
Short name:
Cx31.9
Gap junction alpha-11 protein
Gap junction chi-1 protein
Gene namesi
Name:GJD3
Synonyms:GJA11, GJC1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome 17

Organism-specific databases

HGNCiHGNC:19147. GJD3.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 2424CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei25 – 4521HelicalSequence AnalysisAdd
BLAST
Topological domaini46 – 7631ExtracellularSequence AnalysisAdd
BLAST
Transmembranei77 – 9721HelicalSequence AnalysisAdd
BLAST
Topological domaini98 – 13639CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei137 – 15721HelicalSequence AnalysisAdd
BLAST
Topological domaini158 – 18831ExtracellularSequence AnalysisAdd
BLAST
Transmembranei189 – 20921HelicalSequence AnalysisAdd
BLAST
Topological domaini210 – 29485CytoplasmicSequence AnalysisAdd
BLAST

GO - Cellular componenti

  • cell surface Source: UniProtKB
  • connexon complex Source: UniProtKB
  • integral component of plasma membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cell junction, Cell membrane, Gap junction, Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA162389707.

Polymorphism and mutation databases

DMDMi74750879.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 294294Gap junction delta-3 proteinPRO_0000312990Add
BLAST

Proteomic databases

PaxDbiQ8N144.
PRIDEiQ8N144.

Expressioni

Tissue specificityi

Expressed in vascular smooth muscle cells. Found in heart, colon, and artery (at protein level). Found in cerebral cortex, heart, liver, lung, kidney, spleen and testis.2 Publications

Gene expression databases

BgeeiQ8N144.
CleanExiHS_GJC1.
HS_GJD3.
GenevisibleiQ8N144. HS.

Organism-specific databases

HPAiHPA043159.

Interactioni

Subunit structurei

A connexon is composed of a hexamer of connexins (By similarity). Interacts with TJP1.By similarity1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
TJP1Q071572EBI-2629520,EBI-79553

Protein-protein interaction databases

BioGridi125915. 1 interaction.
IntActiQ8N144. 1 interaction.
STRINGi9606.ENSP00000336832.

Structurei

3D structure databases

ProteinModelPortaliQ8N144.
SMRiQ8N144. Positions 3-213.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi239 – 27032Pro-richAdd
BLAST

Sequence similaritiesi

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

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG41593.
GeneTreeiENSGT00800000124029.
HOGENOMiHOG000231127.
HOVERGENiHBG009576.
InParanoidiQ8N144.
KOiK07627.
OMAiACAGPPC.
OrthoDBiEOG7BCNCV.
PhylomeDBiQ8N144.

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]
PROSITEiPS00408. CONNEXINS_2. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8N144-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MGEWAFLGSL LDAVQLQSPL VGRLWLVVML IFRILVLATV GGAVFEDEQE
60 70 80 90 100
EFVCNTLQPG CRQTCYDRAF PVSHYRFWLF HILLLSAPPV LFVVYSMHRA
110 120 130 140 150
GKEAGGAEAA AQCAPGLPEA QCAPCALRAR RARRCYLLSV ALRLLAELTF
160 170 180 190 200
LGGQALLYGF RVAPHFACAG PPCPHTVDCF VSRPTEKTVF VLFYFAVGLL
210 220 230 240 250
SALLSVAELG HLLWKGRPRA GERDNRCNRA HEEAQKLLPP PPPPPPPPAL
260 270 280 290
PSRRPGPEPC APPAYAHPAP ASLRECGSGR GKASPATGRR DLAI
Length:294
Mass (Da):31,933
Last modified:October 1, 2002 - v1
Checksum:i366110E85903B3CC
GO
Isoform 2 (identifier: Q8N144-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     246-294: PPPALPSRRP...PATGRRDLAI → IVVTWEENRH...WHCSLPFHGT

Note: No experimental confirmation available.
Show »
Length:295
Mass (Da):32,571
Checksum:iB5D3D5F56196BC55
GO

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei246 – 29449PPPAL…RDLAI → IVVTWEENRHLQGEGSPGSP HPKTELDAPRFRRESTSPAG WHCSLPFHGT in isoform 2. 1 PublicationVSP_029984Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY093445 Genomic DNA. Translation: AAM18801.1.
AF514298 Genomic DNA. Translation: AAM53649.1.
AK125254 mRNA. Translation: BAC86102.1.
CH471152 Genomic DNA. Translation: EAW60660.1.
CCDSiCCDS58547.1. [Q8N144-1]
RefSeqiNP_689343.3. NM_152219.3. [Q8N144-1]
UniGeneiHs.444663.

Genome annotation databases

EnsembliENST00000578689; ENSP00000463752; ENSG00000183153.
GeneIDi125111.
KEGGihsa:125111.
UCSCiuc010cwz.3. human. [Q8N144-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY093445 Genomic DNA. Translation: AAM18801.1.
AF514298 Genomic DNA. Translation: AAM53649.1.
AK125254 mRNA. Translation: BAC86102.1.
CH471152 Genomic DNA. Translation: EAW60660.1.
CCDSiCCDS58547.1. [Q8N144-1]
RefSeqiNP_689343.3. NM_152219.3. [Q8N144-1]
UniGeneiHs.444663.

3D structure databases

ProteinModelPortaliQ8N144.
SMRiQ8N144. Positions 3-213.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi125915. 1 interaction.
IntActiQ8N144. 1 interaction.
STRINGi9606.ENSP00000336832.

Chemistry

GuidetoPHARMACOLOGYi722.

Polymorphism and mutation databases

DMDMi74750879.

Proteomic databases

PaxDbiQ8N144.
PRIDEiQ8N144.

Protocols and materials databases

DNASUi125111.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000578689; ENSP00000463752; ENSG00000183153.
GeneIDi125111.
KEGGihsa:125111.
UCSCiuc010cwz.3. human. [Q8N144-1]

Organism-specific databases

CTDi125111.
GeneCardsiGC17M038516.
H-InvDBHIX0079908.
HGNCiHGNC:19147. GJD3.
HPAiHPA043159.
MIMi607425. gene.
neXtProtiNX_Q8N144.
PharmGKBiPA162389707.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG41593.
GeneTreeiENSGT00800000124029.
HOGENOMiHOG000231127.
HOVERGENiHBG009576.
InParanoidiQ8N144.
KOiK07627.
OMAiACAGPPC.
OrthoDBiEOG7BCNCV.
PhylomeDBiQ8N144.

Enzyme and pathway databases

ReactomeiREACT_9509. Gap junction assembly.
SignaLinkiQ8N144.

Miscellaneous databases

GeneWikiiGJD3.
GenomeRNAii125111.
NextBioi81481.
PROiQ8N144.
SOURCEiSearch...

Gene expression databases

BgeeiQ8N144.
CleanExiHS_GJC1.
HS_GJD3.
GenevisibleiQ8N144. 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]
PROSITEiPS00408. CONNEXINS_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Molecular cloning, functional expression, and tissue distribution of a novel human gap junction-forming protein, connexin-31.9. Interaction with zona occludens protein-1."
    Nielsen P.A., Beahm D.L., Giepmans B.N., Baruch A., Hall J.E., Kumar N.M.
    J. Biol. Chem. 277:38272-38283(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], SUBCELLULAR LOCATION, INTERACTION WITH TJP1, TISSUE SPECIFICITY.
  2. "Virtual cloning, functional expression, and gating analysis of human connexin31.9."
    White T.W., Srinivas M., Ripps H., Trovato-Salinaro A., Condorelli D.F., Bruzzone R.
    Am. J. Physiol. 283:C960-C970(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], TISSUE SPECIFICITY.
  3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: Lung.
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].

Entry informationi

Entry nameiCXD3_HUMAN
AccessioniPrimary (citable) accession number: Q8N144
Secondary accession number(s): Q6ZUW6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: October 1, 2002
Last modified: July 22, 2015
This is version 99 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 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. 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.