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Protein

Gap junction epsilon-1 protein

Gene

Gje1

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Mediates calcium-independent ATP release, suggesting activity as a hemichannel (PubMed:18849090). Does not form functional gap junctions (PubMed:18849090). May play a non-essential role in eye lens development (PubMed:18385072, PubMed:27038752).2 Publications

GO - Biological processi

  • cell communication Source: InterPro
  • cell morphogenesis Source: MGI
  • lens development in camera-type eye Source: MGI
  • organ growth Source: MGI

Keywordsi

Molecular functionDevelopmental protein
Biological processTransport

Protein family/group databases

TCDBi1.A.24.1.9 the gap junction-forming connexin (connexin) family

Names & Taxonomyi

Protein namesi
Recommended name:
Gap junction epsilon-1 proteinImported
Alternative name(s):
Connexin-231 Publication
Short name:
Cx231 Publication
Gene namesi
Name:Gje11 PublicationImported
Synonyms:Cx231 Publication, Gjf11 Publication
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaMyomorphaMuroideaMuridaeMurinaeMusMus
Proteomesi
  • UP000000589 Componenti: Chromosome 10

Organism-specific databases

MGIiMGI:1923993 Gje1

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 22CytoplasmicSequence analysisAdd BLAST22
Transmembranei23 – 43HelicalSequence analysisAdd BLAST21
Topological domaini44 – 74ExtracellularSequence analysisAdd BLAST31
Transmembranei75 – 95HelicalSequence analysisAdd BLAST21
Topological domaini96 – 111CytoplasmicSequence analysisAdd BLAST16
Transmembranei112 – 132HelicalSequence analysisAdd BLAST21
Topological domaini133 – 170ExtracellularSequence analysisAdd BLAST38
Transmembranei171 – 191HelicalSequence analysisAdd BLAST21
Topological domaini192 – 205CytoplasmicSequence analysisAdd BLAST14

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Disruption phenotypei

No visible phenotype. Eye morphology appears to be normal with no significant effects on lens transparency and refraction. Expression levels of the connexins Cx46 and Cx50 in lens tissue are slightly reduced.1 Publication

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi32R → Q in Aey12; dominant negative mutation. Viable and fertile with a small eye phenotype. The lens is absent and only the lens envelope remains. The retina is misfolded and poorly differentiated. Heterozygotes show variable degrees of lens opacity and abnormal primary lens fiber elongation. Defects are apparent from embryonic stage E12.5 onwards. 1 Publication1

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003176121 – 205Gap junction epsilon-1 proteinAdd BLAST205

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi53 ↔ 161By similarity
Disulfide bondi64 ↔ 147By similarity

Keywords - PTMi

Disulfide bond

Proteomic databases

PaxDbiQ9CX92
PRIDEiQ9CX92

Expressioni

Tissue specificityi

Highly expressed in lens, where it is mainly found in lens fibers and to a lesser extent in lens epithelium (PubMed:18385072, PubMed:18849090). Weakly expressed in retina (PubMed:18849090). Not detected in other tissues tested (PubMed:18385072, PubMed:18849090).2 Publications

Developmental stagei

Expressed at the posterior region of the lens vesicle at embryonic stage E11.5. Detected at the tip of elongating lens fiber cells at stage E12.5. Expressed in lens epithelial cells, and weakly in retina, at stage E15.5.1 Publication

Gene expression databases

BgeeiENSMUSG00000019867
CleanExiMM_GJE1
GenevisibleiQ9CX92 MM

Interactioni

Subunit structurei

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

Protein-protein interaction databases

STRINGi10090.ENSMUSP00000020016

Structurei

3D structure databases

ProteinModelPortaliQ9CX92
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IEBX Eukaryota
ENOG410Y93T LUCA
GeneTreeiENSGT00390000010547
HOGENOMiHOG000112114
HOVERGENiHBG094838
InParanoidiQ9CX92
KOiK22039
OMAiYAACKSI
OrthoDBiEOG091G0JO4
TreeFamiTF329606

Family and domain databases

Gene3Di1.20.1440.80, 1 hit
InterProiView protein in InterPro
IPR000500 Connexin
IPR019570 Connexin_CCC
IPR013092 Connexin_N
IPR038359 Connexin_N_sf
PANTHERiPTHR11984 PTHR11984, 1 hit
PfamiView protein in Pfam
PF00029 Connexin, 2 hits
PRINTSiPR00206 CONNEXIN
SMARTiView protein in SMART
SM01089 Connexin_CCC, 1 hit

Sequencei

Sequence statusi: Complete.

Q9CX92-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MSLNYIKNFY EGCVKPPTVI GQFHTLFFGS VRMFFLGVLG FAVYGNEALH
60 70 80 90 100
FSCDPDKREI NLFCYNQFRP ITPQVFWALQ LVIVLLPGAI FHLYAACKSI
110 120 130 140 150
NQDCILQKPV YTVIYVLSVL LRISLEVFAF WLQIHLFGFQ VKPIYLCDTE
160 170 180 190 200
SLGKKPNILK CMVPEHFEKT IFLIAMYTFT VITMVLCVAE VFEIIFRRSC

FLFKR
Length:205
Mass (Da):23,831
Last modified:June 1, 2001 - v1
Checksum:i6250FACFCB7A4C86
GO

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK018698 mRNA Translation: BAB31350.1
CCDSiCCDS48505.1
RefSeqiNP_083998.1, NM_029722.1
UniGeneiMm.136985

Genome annotation databases

EnsembliENSMUST00000020016; ENSMUSP00000020016; ENSMUSG00000019867
GeneIDi76743
KEGGimmu:76743
UCSCiuc007elo.1 mouse

Similar proteinsi

Entry informationi

Entry nameiCXE1_MOUSE
AccessioniPrimary (citable) accession number: Q9CX92
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 5, 2008
Last sequence update: June 1, 2001
Last modified: March 28, 2018
This is version 102 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
  2. SIMILARITY comments
    Index of protein domains and families

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