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Q8NFK1 (CXG3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 102. 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·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Gap junction gamma-3 protein
Alternative name(s):
Connexin-30.2
Short name=Cx30.2
Connexin-31.3
Short name=Cx31.3
Gap junction epsilon-1 protein
Gene names
Name:GJC3
Synonyms:GJE1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length279 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

CNS specific. Expression is restricted to brain, spinal cord, and sciatic nerve. According to Ref.6, expression is abundant in skeletal muscle, liver, and heart, and to a minor degree in pancreas and kidney. Ref.1 Ref.6

Sequence similarities

Belongs to the connexin family. Gamma-type subfamily.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 279279Gap junction gamma-3 protein
PRO_0000057874

Regions

Topological domain1 – 2222Cytoplasmic Potential
Transmembrane23 – 4321Helical; Potential
Topological domain44 – 7532Extracellular Potential
Transmembrane76 – 9621Helical; Potential
Topological domain97 – 13236Cytoplasmic Potential
Transmembrane133 – 15321Helical; Potential
Topological domain154 – 19441Extracellular Potential
Transmembrane195 – 21521Helical; Potential
Topological domain216 – 27964Cytoplasmic Potential

Sequences

Sequence LengthMass (Da)Tools
Q8NFK1 [UniParc].

Last modified October 1, 2002. Version 1.
Checksum: 71810BB8E30533BC

FASTA27931,299
        10         20         30         40         50         60 
MCGRFLRRLL AEESRRSTPV GRLLLPVLLG FRLVLLAASG PGVYGDEQSE FVCHTQQPGC 

        70         80         90        100        110        120 
KAACFDAFHP LSPLRFWVFQ VILVAVPSAL YMGFTLYHVI WHWELSGKGK EEETLIQGRE 

       130        140        150        160        170        180 
GNTDVPGAGS LRLLWAYVAQ LGARLVLEGA ALGLQYHLYG FQMPSSFACR REPCLGSITC 

       190        200        210        220        230        240 
NLSRPSEKTI FLKTMFGVSG FCLLFTFLEL VLLGLGRWWR TWKHKSSSSK YFLTSESTRR 

       250        260        270 
HKKATDSLPV VETKEQFQEA VPGRSLAQEK QRPVGPRDA 

« Hide

References

« Hide 'large scale' references
[1]"Connexin29 is uniquely distributed within myelinating glial cells of the central and peripheral nervous systems."
Altevogt B.M., Kleopa K.A., Postma F.R., Scherer S.S., Paul D.L.
J. Neurosci. 22:6458-6470(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY.
[2]"Human connexin 31.3 ORF."
Enriquez A.D., Scherer S.S.
Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
Tissue: Corpus callosum.
[3]"Human chromosome 7: DNA sequence and biology."
Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K., Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R., Zhang J., Hudek A.K., Li M., Haddad M., Duggan G.E., Fernandez B.A., Kanematsu E., Gentles S. expand/collapse author list , Christopoulos C.C., Choufani S., Kwasnicka D., Zheng X.H., Lai Z., Nusskern D.R., Zhang Q., Gu Z., Lu F., Zeesman S., Nowaczyk M.J., Teshima I., Chitayat D., Shuman C., Weksberg R., Zackai E.H., Grebe T.A., Cox S.R., Kirkpatrick S.J., Rahman N., Friedman J.M., Heng H.H.Q., Pelicci P.G., Lo-Coco F., Belloni E., Shaffer L.G., Pober B., Morton C.C., Gusella J.F., Bruns G.A.P., Korf B.R., Quade B.J., Ligon A.H., Ferguson H., Higgins A.W., Leach N.T., Herrick S.R., Lemyre E., Farra C.G., Kim H.-G., Summers A.M., Gripp K.W., Roberts W., Szatmari P., Winsor E.J.T., Grzeschik K.-H., Teebi A., Minassian B.A., Kere J., Armengol L., Pujana M.A., Estivill X., Wilson M.D., Koop B.F., Tosi S., Moore G.E., Boright A.P., Zlotorynski E., Kerem B., Kroisel P.M., Petek E., Oscier D.G., Mould S.J., Doehner H., Doehner K., Rommens J.M., Vincent J.B., Venter J.C., Li P.W., Mural R.J., Adams M.D., Tsui L.-C.
Science 300:767-772(2003) [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]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 120-279.
Tissue: Pancreas.
[6]"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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF503615 mRNA. Translation: AAM21145.1.
AY297109 mRNA. Translation: AAP51161.1.
CH236956 Genomic DNA. Translation: EAL23863.1.
CH471091 Genomic DNA. Translation: EAW76624.1.
BC043381 mRNA. Translation: AAH43381.1.
CCDSCCDS34697.1.
RefSeqNP_853516.1. NM_181538.2.
XP_005250369.1. XM_005250312.1.
UniGeneHs.647524.

3D structure databases

ProteinModelPortalQ8NFK1.
SMRQ8NFK1. Positions 6-213.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000325775.

Chemistry

GuidetoPHARMACOLOGY718.

Protein family/group databases

TCDB1.A.24.1.7. the gap junction-forming connexin (connexin) family.

PTM databases

PhosphoSiteQ8NFK1.

Polymorphism databases

DMDM32171365.

Proteomic databases

PaxDbQ8NFK1.
PRIDEQ8NFK1.

Protocols and materials databases

DNASU349149.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000312891; ENSP00000325775; ENSG00000176402.
GeneID349149.
KEGGhsa:349149.
UCSCuc011kjd.2. human.

Organism-specific databases

CTD349149.
GeneCardsGC07M099520.
HGNCHGNC:17495. GJC3.
HPAHPA015024.
MIM611925. gene.
neXtProtNX_Q8NFK1.
PharmGKBPA162389705.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG42371.
HOGENOMHOG000231127.
HOVERGENHBG107788.
InParanoidQ8NFK1.
KOK07628.
OMAIFLKTMF.
OrthoDBEOG7WHHBG.
PhylomeDBQ8NFK1.
TreeFamTF329606.

Gene expression databases

BgeeQ8NFK1.
CleanExHS_GJC3.
GenevestigatorQ8NFK1.

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

GeneWikiGJC3.
GenomeRNAi349149.
NextBio99487.
PROQ8NFK1.
SOURCESearch...

Entry information

Entry nameCXG3_HUMAN
AccessionPrimary (citable) accession number: Q8NFK1
Secondary accession number(s): A4D296, Q86XI9
Entry history
Integrated into UniProtKB/Swiss-Prot: June 20, 2003
Last sequence update: October 1, 2002
Last modified: July 9, 2014
This is version 102 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 7

Human chromosome 7: entries, gene names and cross-references to MIM