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Protein

Gap junction alpha-8 protein

Gene

GJA8

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein 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.

GO - Molecular functioni

  • channel activity Source: ProtInc
  • gap junction channel activity Source: Ensembl

GO - Biological processi

  • cell-cell signaling Source: Ensembl
  • lens development in camera-type eye Source: Ensembl
  • protein homooligomerization Source: Ensembl
  • transport Source: ProtInc
  • visual perception Source: ProtInc
Complete GO annotation...

Enzyme and pathway databases

BioCyciZFISH:ENSG00000121634-MONOMER.
ReactomeiR-HSA-190861. Gap junction assembly.

Protein family/group databases

TCDBi1.A.24.1.5. the gap junction-forming connexin (connexin) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Gap junction alpha-8 protein
Alternative name(s):
Connexin-50
Short name:
Cx50
Lens fiber protein MP70
Gene namesi
Name:GJA8
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:4281. GJA8.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini2 – 23CytoplasmicSequence analysisAdd BLAST22
Transmembranei24 – 46HelicalSequence analysisAdd BLAST23
Topological domaini47 – 76ExtracellularSequence analysisAdd BLAST30
Transmembranei77 – 99HelicalSequence analysisAdd BLAST23
Topological domaini100 – 150CytoplasmicSequence analysisAdd BLAST51
Transmembranei151 – 173HelicalSequence analysisAdd BLAST23
Topological domaini174 – 204ExtracellularSequence analysisAdd BLAST31
Transmembranei205 – 227HelicalSequence analysisAdd BLAST23
Topological domaini228 – 433CytoplasmicSequence analysisAdd BLAST206

GO - Cellular componenti

  • connexin complex Source: ProtInc
  • integral component of plasma membrane Source: ProtInc
Complete GO annotation...

Keywords - Cellular componenti

Cell junction, Cell membrane, Gap junction, Membrane

Pathology & Biotechi

Involvement in diseasei

Cataract 1, multiple types (CTRCT1)11 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. CTRCT1 includes congenital, zonular pulverulent, nuclear progressive, nuclear pulverulent, nuclear total, total, and posterior subcapsular types of cataract. Zonular or lamellar cataracts are opacities, broad or narrow, usually consisting of powdery white dots affecting only certain layers or zones between the cortex and nucleus of an otherwise clear lens. The opacity may be so dense as to render the entire central region of the lens completely opaque, or so translucent that vision is hardly if at all impeded. Zonular cataracts generally do not involve the embryonic nucleus, though sometimes they involve the fetal nucleus. Usually sharply separated from a clear cortex outside them, they may have projections from their outer edges known as riders or spokes. In some cases cataract is associated with microcornea without any other systemic anomaly or dysmorphism. Microcornea is defined by a corneal diameter inferior to 10 mm in both meridians in an otherwise normal eye.
See also OMIM:116200
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03879723R → T in CTRCT1; nuclear progressive cataract. 1 PublicationCorresponds to variant rs80358203dbSNPEnsembl.1
Natural variantiVAR_03879844V → E in CTRCT1; cataract with microcornea. 1 PublicationCorresponds to variant rs80358204dbSNPEnsembl.1
Natural variantiVAR_06957947D → N in CTRCT1; incomplete penetrance; results in loss of function. 3 PublicationsCorresponds to variant rs121434643dbSNPEnsembl.1
Natural variantiVAR_03879948E → K in CTRCT1; zonular pulverulent. 1 PublicationCorresponds to variant rs80358201dbSNPEnsembl.1
Natural variantiVAR_03764264V → G in CTRCT1; zonular pulverulent and nuclear progressive cataract. 2 Publications1
Natural variantiVAR_07002167D → G in CTRCT1. 1 Publication1
Natural variantiVAR_07002276R → C in CTRCT1. 1 Publication1
Natural variantiVAR_00200588P → S in CTRCT1; zonular pulverulent. 1 PublicationCorresponds to variant rs80358200dbSNPEnsembl.1
Natural variantiVAR_038800198R → Q in CTRCT1; cataract with microcornea. 1 PublicationCorresponds to variant rs80358205dbSNPEnsembl.1

Keywords - Diseasei

Cataract, Disease mutation

Organism-specific databases

DisGeNETi2703.
MalaCardsiGJA8.
MIMi116200. phenotype.
OpenTargetsiENSG00000121634.
Orphaneti1377. Cataract-microcornea syndrome.
98984. Pulverulent cataract.
PharmGKBiPA28692.

Polymorphism and mutation databases

BioMutaiGJA8.
DMDMi13124697.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedBy similarity
ChainiPRO_00000578302 – 433Gap junction alpha-8 proteinAdd BLAST432

Proteomic databases

EPDiP48165.
PaxDbiP48165.
PRIDEiP48165.

PTM databases

iPTMnetiP48165.
PhosphoSitePlusiP48165.

Expressioni

Tissue specificityi

Eye lens.

Gene expression databases

BgeeiENSG00000121634.
CleanExiHS_GJA8.
ExpressionAtlasiP48165. baseline and differential.
GenevisibleiP48165. HS.

Interactioni

Subunit structurei

A connexon is composed of a hexamer of connexins. This particular connexin only forms junctional channels.

Protein-protein interaction databases

BioGridi108970. 1 interactor.
STRINGi9606.ENSP00000240986.

Structurei

3D structure databases

ProteinModelPortaliP48165.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IF3Z. Eukaryota.
ENOG410ZC96. LUCA.
GeneTreeiENSGT00840000129674.
HOGENOMiHOG000231127.
HOVERGENiHBG009576.
InParanoidiP48165.
KOiK07617.
OMAiMYVGHAV.
OrthoDBiEOG091G0FKH.
PhylomeDBiP48165.
TreeFamiTF329606.

Family and domain databases

InterProiIPR000500. Connexin.
IPR002266. Connexin50.
IPR019570. Connexin_CCC.
IPR017990. Connexin_CS.
IPR013092. Connexin_N.
[Graphical view]
PANTHERiPTHR11984. PTHR11984. 2 hits.
PTHR11984:SF19. PTHR11984:SF19. 2 hits.
PfamiPF00029. Connexin. 1 hit.
PF03509. Connexin50. 1 hit.
[Graphical view]
PRINTSiPR00206. CONNEXIN.
PR01137. CONNEXINA8.
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.

Sequence processingi: The displayed sequence is further processed into a mature form.

P48165-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MGDWSFLGNI LEEVNEHSTV IGRVWLTVLF IFRILILGTA AEFVWGDEQS
60 70 80 90 100
DFVCNTQQPG CENVCYDEAF PISHIRLWVL QIIFVSTPSL MYVGHAVHYV
110 120 130 140 150
RMEEKRKSRE AEELGQQAGT NGGPDQGSVK KSSGSKGTKK FRLEGTLLRT
160 170 180 190 200
YICHIIFKTL FEVGFIVGHY FLYGFRILPL YRCSRWPCPN VVDCFVSRPT
210 220 230 240 250
EKTIFILFML SVASVSLFLN VMELGHLGLK GIRSALKRPV EQPLGEIPEK
260 270 280 290 300
SLHSIAVSSI QKAKGYQLLE EEKIVSHYFP LTEVGMVETS PLPAKPFNQF
310 320 330 340 350
EEKISTGPLG DLSRGYQETL PSYAQVGAQE VEGEGPPAEE GAEPEVGEKK
360 370 380 390 400
EEAERLTTEE QEKVAVPEGE KVETPGVDKE GEKEEPQSEK VSKQGLPAEK
410 420 430
TPSLCPELTT DDARPLSRLS KASSRARSDD LTV
Length:433
Mass (Da):48,229
Last modified:January 23, 2007 - v3
Checksum:iD2BF6CD1C8768636
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti110 – 111EA → D in AAA77062 (PubMed:7796604).Curated2

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03879723R → T in CTRCT1; nuclear progressive cataract. 1 PublicationCorresponds to variant rs80358203dbSNPEnsembl.1
Natural variantiVAR_03879844V → E in CTRCT1; cataract with microcornea. 1 PublicationCorresponds to variant rs80358204dbSNPEnsembl.1
Natural variantiVAR_06957947D → N in CTRCT1; incomplete penetrance; results in loss of function. 3 PublicationsCorresponds to variant rs121434643dbSNPEnsembl.1
Natural variantiVAR_03879948E → K in CTRCT1; zonular pulverulent. 1 PublicationCorresponds to variant rs80358201dbSNPEnsembl.1
Natural variantiVAR_03764264V → G in CTRCT1; zonular pulverulent and nuclear progressive cataract. 2 Publications1
Natural variantiVAR_07002167D → G in CTRCT1. 1 Publication1
Natural variantiVAR_07002276R → C in CTRCT1. 1 Publication1
Natural variantiVAR_00200588P → S in CTRCT1; zonular pulverulent. 1 PublicationCorresponds to variant rs80358200dbSNPEnsembl.1
Natural variantiVAR_038800198R → Q in CTRCT1; cataract with microcornea. 1 PublicationCorresponds to variant rs80358205dbSNPEnsembl.1
Natural variantiVAR_038801247I → M Neutral polymorphism originally found in a family with cataract; does not affect gap junctions formation and gap junctional currents. 3 PublicationsCorresponds to variant rs80358202dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U34802 Genomic DNA. Translation: AAA77062.1.
AF217524 Genomic DNA. Translation: AAF32309.1.
EF672108 Genomic DNA. Translation: ABS11172.1.
AL445591 Genomic DNA. Translation: CAH72387.1.
CCDSiCCDS30834.1.
PIRiI39176.
RefSeqiNP_005258.2. NM_005267.4.
XP_011507718.1. XM_011509416.1.
UniGeneiHs.632441.

Genome annotation databases

EnsembliENST00000369235; ENSP00000358238; ENSG00000121634.
GeneIDi2703.
KEGGihsa:2703.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Web resourcesi

Eye disease Gap junction protein, alpha 8 (GJA8)

Leiden Open Variation Database (LOVD)

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U34802 Genomic DNA. Translation: AAA77062.1.
AF217524 Genomic DNA. Translation: AAF32309.1.
EF672108 Genomic DNA. Translation: ABS11172.1.
AL445591 Genomic DNA. Translation: CAH72387.1.
CCDSiCCDS30834.1.
PIRiI39176.
RefSeqiNP_005258.2. NM_005267.4.
XP_011507718.1. XM_011509416.1.
UniGeneiHs.632441.

3D structure databases

ProteinModelPortaliP48165.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108970. 1 interactor.
STRINGi9606.ENSP00000240986.

Protein family/group databases

TCDBi1.A.24.1.5. the gap junction-forming connexin (connexin) family.

PTM databases

iPTMnetiP48165.
PhosphoSitePlusiP48165.

Polymorphism and mutation databases

BioMutaiGJA8.
DMDMi13124697.

Proteomic databases

EPDiP48165.
PaxDbiP48165.
PRIDEiP48165.

Protocols and materials databases

DNASUi2703.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000369235; ENSP00000358238; ENSG00000121634.
GeneIDi2703.
KEGGihsa:2703.

Organism-specific databases

CTDi2703.
DisGeNETi2703.
GeneCardsiGJA8.
HGNCiHGNC:4281. GJA8.
MalaCardsiGJA8.
MIMi116200. phenotype.
600897. gene.
neXtProtiNX_P48165.
OpenTargetsiENSG00000121634.
Orphaneti1377. Cataract-microcornea syndrome.
98984. Pulverulent cataract.
PharmGKBiPA28692.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IF3Z. Eukaryota.
ENOG410ZC96. LUCA.
GeneTreeiENSGT00840000129674.
HOGENOMiHOG000231127.
HOVERGENiHBG009576.
InParanoidiP48165.
KOiK07617.
OMAiMYVGHAV.
OrthoDBiEOG091G0FKH.
PhylomeDBiP48165.
TreeFamiTF329606.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000121634-MONOMER.
ReactomeiR-HSA-190861. Gap junction assembly.

Miscellaneous databases

GeneWikiiGJA8.
GenomeRNAii2703.
PROiP48165.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000121634.
CleanExiHS_GJA8.
ExpressionAtlasiP48165. baseline and differential.
GenevisibleiP48165. HS.

Family and domain databases

InterProiIPR000500. Connexin.
IPR002266. Connexin50.
IPR019570. Connexin_CCC.
IPR017990. Connexin_CS.
IPR013092. Connexin_N.
[Graphical view]
PANTHERiPTHR11984. PTHR11984. 2 hits.
PTHR11984:SF19. PTHR11984:SF19. 2 hits.
PfamiPF00029. Connexin. 1 hit.
PF03509. Connexin50. 1 hit.
[Graphical view]
PRINTSiPR00206. CONNEXIN.
PR01137. CONNEXINA8.
SMARTiSM00037. CNX. 1 hit.
SM01089. Connexin_CCC. 1 hit.
[Graphical view]
PROSITEiPS00407. CONNEXINS_1. 1 hit.
PS00408. CONNEXINS_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiCXA8_HUMAN
AccessioniPrimary (citable) accession number: P48165
Secondary accession number(s): A7L5M5, Q5VVN9, Q9NP25
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 1, 1996
Last sequence update: January 23, 2007
Last modified: November 2, 2016
This is version 154 of the entry and version 3 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 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.