Q8N144 (CXD3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

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 names

Name:	GJD3
Synonyms:	GJA11, GJC1

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	294 AA.
Sequence status	Complete.
Protein existence	Evidence 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 junction › gap 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.

Ontologies

Keywords
Cellular component	Cell junction Cell membrane Gap junction Membrane
Coding sequence diversity	Alternative splicing
Domain	Transmembrane Transmembrane helix
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cell communication Traceable author statement Ref.1. Source: UniProtKB gap junction assembly Inferred from direct assay Ref.1. Source: UniProtKB
Cellular_component	cell surface Inferred from direct assay Ref.1. Source: UniProtKB connexon complex Inferred from direct assay Ref.1. Source: UniProtKB integral to plasma membrane Traceable author statement Ref.1. Source: UniProtKB
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
TJP1	Q07157	2	EBI-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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 294	294	Gap junction delta-3 protein		PRO_0000312990
Regions
	Topological domain	1 – 24	24	Cytoplasmic Potential
	Transmembrane	25 – 45	21	Helical; Potential
	Topological domain	46 – 76	31	Extracellular Potential
	Transmembrane	77 – 97	21	Helical; Potential
	Topological domain	98 – 136	39	Cytoplasmic Potential
	Transmembrane	137 – 157	21	Helical; Potential
	Topological domain	158 – 188	31	Extracellular Potential
	Transmembrane	189 – 209	21	Helical; Potential
	Topological domain	210 – 294	85	Cytoplasmic Potential
	Compositional bias	239 – 270	32	Pro-rich
Natural variations
	Alternative sequence	246 – 294	49	PPPAL…RDLAI → IVVTWEENRHLQGEGSPGSP HPKTELDAPRFRRESTSPAG WHCSLPFHGT in isoform 2.		VSP_029984

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified October 1, 2002. Version 1. Checksum: 366110E85903B3CC	FASTA	294	31,933
	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
	Isoform 2 [UniParc]. Checksum: B5D3D5F56196BC55	FASTA	295	32,571
	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 PPPPPIVVTW EENRHLQGEG SPGSPHPKTE LDAPRFRRES TSPAGWHCSL PFHGT

References

	« Hide 'large scale' referencesShow '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. , 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. , 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.
IPI	IPI00166072. IPI00879578.
RefSeq	NP_689343.3. NM_152219.3.
UniGene	Hs.444663.
3D structure databases
ProteinModelPortal	Q8N144.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q8N144. 1 interaction.
STRING	9606.ENSP00000336832.
Polymorphism databases
DMDM	74750879.
Proteomic databases
PaxDb	Q8N144.
PRIDE	Q8N144.
Protocols and materials databases
DNASU	125111.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000578689; ENSP00000463752; ENSG00000183153.
GeneID	125111.
KEGG	hsa:125111.
UCSC	uc010cwz.3. human.
Organism-specific databases
CTD	125111.
GeneCards	GC17M038516.
H-InvDB	HIX0079908.
HGNC	HGNC:19147. GJD3.
HPA	HPA043159.
MIM	607425. gene.
neXtProt	NX_Q8N144.
PharmGKB	PA162389707.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG41593.
HOGENOM	HOG000231127.
HOVERGEN	HBG009576.
KO	K07627.
OrthoDB	EOG4XWFZR.
Enzyme and pathway databases
Reactome	REACT_11123. Membrane Trafficking.
Gene expression databases
Bgee	Q8N144.
CleanEx	HS_GJC1. HS_GJD3.
Genevestigator	Q8N144.
Family and domain databases
InterPro	IPR000500. Connexin. IPR019570. Connexin_CCC. IPR017990. Connexin_CS. IPR013092. Connexin_N. [Graphical view]
PANTHER	PTHR11984. PTHR11984. 1 hit.
Pfam	PF00029. Connexin. 1 hit. PF10582. Connexin_CCC. 1 hit. [Graphical view]
PRINTS	PR00206. CONNEXIN.
SMART	SM00037. CNX. 1 hit. SM01089. Connexin_CCC. 1 hit. [Graphical view]
PROSITE	PS00408. CONNEXINS_2. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	125111.
NextBio	81481.
SOURCE	Search...

Entry information

Entry name

CXD3_HUMAN

Accession

Primary (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:	May 1, 2013
This is version 77 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.