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Q8NFK1

- CXG3_HUMAN

UniProt

Q8NFK1 - CXG3_HUMAN

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Protein

Gap junction gamma-3 protein

Gene

GJC3

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. myelination Source: Ensembl
  3. sensory perception of sound Source: Ensembl
Complete GO annotation...

Protein family/group databases

TCDBi1.A.24.1.7. the gap junction-forming connexin (connexin) family.

Names & Taxonomyi

Protein namesi
Recommended 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 namesi
Name:GJC3
Synonyms:GJE1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 7

Organism-specific databases

HGNCiHGNC:17495. GJC3.

Subcellular locationi

Cell membrane By similarity; Multi-pass membrane protein By similarity. Cell junctiongap junction By similarity

GO - Cellular componenti

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

Keywords - Cellular componenti

Cell junction, Cell membrane, Gap junction, Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA162389705.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 279279Gap junction gamma-3 proteinPRO_0000057874Add
BLAST

Proteomic databases

PaxDbiQ8NFK1.
PRIDEiQ8NFK1.

PTM databases

PhosphoSiteiQ8NFK1.

Expressioni

Tissue specificityi

CNS specific. Expression is restricted to brain, spinal cord, and sciatic nerve. According to PubMed:12881038, expression is abundant in skeletal muscle, liver, and heart, and to a minor degree in pancreas and kidney.2 Publications

Gene expression databases

BgeeiQ8NFK1.
CleanExiHS_GJC3.
GenevestigatoriQ8NFK1.

Organism-specific databases

HPAiHPA015024.

Interactioni

Subunit structurei

A connexon is composed of a hexamer of connexins.By similarity

Protein-protein interaction databases

STRINGi9606.ENSP00000325775.

Structurei

3D structure databases

ProteinModelPortaliQ8NFK1.
SMRiQ8NFK1. Positions 6-213.
ModBaseiSearch...
MobiDBiSearch...

Topological domain

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 2222CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini44 – 7532ExtracellularSequence AnalysisAdd
BLAST
Topological domaini97 – 13236CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini154 – 19441ExtracellularSequence AnalysisAdd
BLAST
Topological domaini216 – 27964CytoplasmicSequence AnalysisAdd
BLAST

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei23 – 4321HelicalSequence AnalysisAdd
BLAST
Transmembranei76 – 9621HelicalSequence AnalysisAdd
BLAST
Transmembranei133 – 15321HelicalSequence AnalysisAdd
BLAST
Transmembranei195 – 21521HelicalSequence AnalysisAdd
BLAST

Family & Domainsi

Sequence similaritiesi

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

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG42371.
GeneTreeiENSGT00640000091490.
HOGENOMiHOG000231127.
HOVERGENiHBG107788.
InParanoidiQ8NFK1.
KOiK07628.
OMAiIFLKTMF.
OrthoDBiEOG7WHHBG.
PhylomeDBiQ8NFK1.
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.

Q8NFK1-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MCGRFLRRLL AEESRRSTPV GRLLLPVLLG FRLVLLAASG PGVYGDEQSE
60 70 80 90 100
FVCHTQQPGC KAACFDAFHP LSPLRFWVFQ VILVAVPSAL YMGFTLYHVI
110 120 130 140 150
WHWELSGKGK EEETLIQGRE GNTDVPGAGS LRLLWAYVAQ LGARLVLEGA
160 170 180 190 200
ALGLQYHLYG FQMPSSFACR REPCLGSITC NLSRPSEKTI FLKTMFGVSG
210 220 230 240 250
FCLLFTFLEL VLLGLGRWWR TWKHKSSSSK YFLTSESTRR HKKATDSLPV
260 270
VETKEQFQEA VPGRSLAQEK QRPVGPRDA
Length:279
Mass (Da):31,299
Last modified:October 1, 2002 - v1
Checksum:i71810BB8E30533BC
GO

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS34697.1.
RefSeqiNP_853516.1. NM_181538.2.
XP_005250369.1. XM_005250312.1.
UniGeneiHs.647524.

Genome annotation databases

EnsembliENST00000312891; ENSP00000325775; ENSG00000176402.
GeneIDi349149.
KEGGihsa:349149.
UCSCiuc011kjd.2. human.

Polymorphism databases

DMDMi32171365.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
CCDSi CCDS34697.1.
RefSeqi NP_853516.1. NM_181538.2.
XP_005250369.1. XM_005250312.1.
UniGenei Hs.647524.

3D structure databases

ProteinModelPortali Q8NFK1.
SMRi Q8NFK1. Positions 6-213.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

STRINGi 9606.ENSP00000325775.

Chemistry

GuidetoPHARMACOLOGYi 718.

Protein family/group databases

TCDBi 1.A.24.1.7. the gap junction-forming connexin (connexin) family.

PTM databases

PhosphoSitei Q8NFK1.

Polymorphism databases

DMDMi 32171365.

Proteomic databases

PaxDbi Q8NFK1.
PRIDEi Q8NFK1.

Protocols and materials databases

DNASUi 349149.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000312891 ; ENSP00000325775 ; ENSG00000176402 .
GeneIDi 349149.
KEGGi hsa:349149.
UCSCi uc011kjd.2. human.

Organism-specific databases

CTDi 349149.
GeneCardsi GC07M099520.
HGNCi HGNC:17495. GJC3.
HPAi HPA015024.
MIMi 611925. gene.
neXtProti NX_Q8NFK1.
PharmGKBi PA162389705.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG42371.
GeneTreei ENSGT00640000091490.
HOGENOMi HOG000231127.
HOVERGENi HBG107788.
InParanoidi Q8NFK1.
KOi K07628.
OMAi IFLKTMF.
OrthoDBi EOG7WHHBG.
PhylomeDBi Q8NFK1.
TreeFami TF329606.

Miscellaneous databases

GeneWikii GJC3.
GenomeRNAii 349149.
NextBioi 99487.
PROi Q8NFK1.
SOURCEi Search...

Gene expression databases

Bgeei Q8NFK1.
CleanExi HS_GJC3.
Genevestigatori Q8NFK1.

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. "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.
    , 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. 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.

Entry informationi

Entry nameiCXG3_HUMAN
AccessioniPrimary (citable) accession number: Q8NFK1
Secondary accession number(s): A4D296, Q86XI9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 20, 2003
Last sequence update: October 1, 2002
Last modified: October 29, 2014
This is version 104 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 7
    Human chromosome 7: 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