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Q8N144 (CXD3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 88. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:GJD3
Synonyms:GJA11, GJC1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length294 AA.
Sequence statusComplete.
Protein existenceEvidence at protein 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. Interacts with TJP1. Ref.1

Subcellular location

Cell membrane; Multi-pass membrane protein. Cell junctiongap junction Ref.1.

Tissue specificity

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. Ref.1 Ref.2

Sequence similarities

Belongs to the connexin family. Delta-type subfamily.

Binary interactions

With

Entry

#Exp.

IntAct

Notes

TJP1Q071572EBI-2629520,EBI-79553

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q8N144-1)

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.
Isoform 2 (identifier: Q8N144-2)

The sequence of this isoform differs from the canonical sequence as follows:
     246-294: PPPALPSRRP...PATGRRDLAI → IVVTWEENRH...WHCSLPFHGT
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 294294Gap junction delta-3 protein
PRO_0000312990

Regions

Topological domain1 – 2424Cytoplasmic Potential
Transmembrane25 – 4521Helical; Potential
Topological domain46 – 7631Extracellular Potential
Transmembrane77 – 9721Helical; Potential
Topological domain98 – 13639Cytoplasmic Potential
Transmembrane137 – 15721Helical; Potential
Topological domain158 – 18831Extracellular Potential
Transmembrane189 – 20921Helical; Potential
Topological domain210 – 29485Cytoplasmic Potential
Compositional bias239 – 27032Pro-rich

Natural variations

Alternative sequence246 – 29449PPPAL…RDLAI → IVVTWEENRHLQGEGSPGSP HPKTELDAPRFRRESTSPAG WHCSLPFHGT in isoform 2.
VSP_029984

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified October 1, 2002. Version 1.
Checksum: 366110E85903B3CC

FASTA29431,933
        10         20         30         40         50         60 
MGEWAFLGSL LDAVQLQSPL VGRLWLVVML IFRILVLATV GGAVFEDEQE EFVCNTLQPG 

        70         80         90        100        110        120 
CRQTCYDRAF PVSHYRFWLF HILLLSAPPV LFVVYSMHRA GKEAGGAEAA AQCAPGLPEA 

       130        140        150        160        170        180 
QCAPCALRAR RARRCYLLSV ALRLLAELTF LGGQALLYGF RVAPHFACAG PPCPHTVDCF 

       190        200        210        220        230        240 
VSRPTEKTVF VLFYFAVGLL SALLSVAELG HLLWKGRPRA GERDNRCNRA HEEAQKLLPP 

       250        260        270        280        290 
PPPPPPPPAL PSRRPGPEPC APPAYAHPAP ASLRECGSGR GKASPATGRR DLAI 

« Hide

Isoform 2 [UniParc].

Checksum: B5D3D5F56196BC55
Show »

FASTA29532,571

References

« Hide 'large scale' references
[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. expand/collapse author list , 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]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 (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AY093445 Genomic DNA. Translation: AAM18801.1.
AF514298 Genomic DNA. Translation: AAM53649.1.
AK125254 mRNA. Translation: BAC86102.1.
CH471152 Genomic DNA. Translation: EAW60660.1.
RefSeqNP_689343.3. NM_152219.3.
UniGeneHs.444663.

3D structure databases

ProteinModelPortalQ8N144.
SMRQ8N144. Positions 3-213.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid125915. 1 interaction.
IntActQ8N144. 1 interaction.
STRING9606.ENSP00000336832.

Chemistry

GuidetoPHARMACOLOGY722.

Polymorphism databases

DMDM74750879.

Proteomic databases

PaxDbQ8N144.
PRIDEQ8N144.

Protocols and materials databases

DNASU125111.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000578689; ENSP00000463752; ENSG00000183153. [Q8N144-1]
GeneID125111.
KEGGhsa:125111.
UCSCuc010cwz.3. human. [Q8N144-1]

Organism-specific databases

CTD125111.
GeneCardsGC17M038516.
H-InvDBHIX0079908.
HGNCHGNC:19147. GJD3.
HPAHPA043159.
MIM607425. gene.
neXtProtNX_Q8N144.
PharmGKBPA162389707.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG41593.
HOGENOMHOG000231127.
HOVERGENHBG009576.
KOK07627.
OMARRARRCY.
OrthoDBEOG7BCNCV.
PhylomeDBQ8N144.

Enzyme and pathway databases

ReactomeREACT_11123. Membrane Trafficking.
SignaLinkQ8N144.

Gene expression databases

ArrayExpressQ8N144.
BgeeQ8N144.
CleanExHS_GJC1.
HS_GJD3.
GenevestigatorQ8N144.

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]
PROSITEPS00408. CONNEXINS_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiGJD3.
GenomeRNAi125111.
NextBio81481.
PROQ8N144.
SOURCESearch...

Entry information

Entry nameCXD3_HUMAN
AccessionPrimary (citable) accession number: Q8N144
Secondary accession number(s): Q6ZUW6
Entry history
Integrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: October 1, 2002
Last modified: April 16, 2014
This is version 88 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 chromosome 17

Human chromosome 17: entries, gene names and cross-references to MIM