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UniProtKB - P48165 (CXA8_HUMAN)

Protein

Gap junction alpha-8 protein

Gene

GJA8

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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
View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Enzyme and pathway databases

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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000121634.5
HGNCiHGNC:4281 GJA8
MIMi600897 gene
neXtProtiNX_P48165

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 – 23CytoplasmicSequence analysisAdd BLAST23
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

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 dbSNP:rs80358203EnsemblClinVar.1
Natural variantiVAR_03879844V → E in CTRCT1; cataract with microcornea. 1 PublicationCorresponds to variant dbSNP:rs80358204EnsemblClinVar.1
Natural variantiVAR_06957947D → N in CTRCT1; incomplete penetrance; results in loss of function. 3 PublicationsCorresponds to variant dbSNP:rs121434643EnsemblClinVar.1
Natural variantiVAR_03879948E → K in CTRCT1; zonular pulverulent. 1 PublicationCorresponds to variant dbSNP:rs80358201EnsemblClinVar.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 dbSNP:rs80358200EnsemblClinVar.1
Natural variantiVAR_038800198R → Q in CTRCT1; cataract with microcornea. 1 PublicationCorresponds to variant dbSNP:rs80358205EnsemblClinVar.1

Keywords - Diseasei

Cataract, Disease mutation

Organism-specific databases

DisGeNETi2703
MalaCardsiGJA8
MIMi116200 phenotype
OpenTargetsiENSG00000121634
Orphaneti1377 Cataract-microcornea syndrome
98991 Early-onset nuclear cataract
98985 Early-onset sutural cataract
91490 Isolated congenital sclerocornea
98984 Pulverulent cataract
98994 Total early-onset cataract
PharmGKBiPA28692

Polymorphism and mutation databases

BioMutaiGJA8
DMDMi13124697

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000578301 – 433Gap junction alpha-8 proteinAdd BLAST433

Proteomic databases

EPDiP48165
PaxDbiP48165
PeptideAtlasiP48165
PRIDEiP48165
ProteomicsDBi55868

PTM databases

iPTMnetiP48165
PhosphoSitePlusiP48165

Expressioni

Tissue specificityi

Eye lens.

Gene expression databases

BgeeiENSG00000121634 Expressed in 16 organ(s), highest expression level in prostate gland
CleanExiHS_GJA8
ExpressionAtlasiP48165 baseline and differential
GenevisibleiP48165 HS

Organism-specific databases

HPAiHPA014715
HPA062940

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
IntActiP48165, 82 interactors
STRINGi9606.ENSP00000240986

Structurei

3D structure databases

ProteinModelPortaliP48165
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the connexin family. Alpha-type (group II) subfamily.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IF3Z Eukaryota
ENOG410ZC96 LUCA
GeneTreeiENSGT00910000143998
HOGENOMiHOG000231127
HOVERGENiHBG009576
InParanoidiP48165
KOiK07617
OMAiLRTYICH
OrthoDBiEOG091G0FKH
PhylomeDBiP48165
TreeFamiTF329606

Family and domain databases

Gene3Di1.20.1440.80, 1 hit
InterProiView protein in InterPro
IPR000500 Connexin
IPR002266 Connexin50
IPR019570 Connexin_CCC
IPR017990 Connexin_CS
IPR013092 Connexin_N
IPR038359 Connexin_N_sf
PANTHERiPTHR11984 PTHR11984, 1 hit
PTHR11984:SF19 PTHR11984:SF19, 1 hit
PfamiView protein in Pfam
PF00029 Connexin, 1 hit
PF03509 Connexin50, 1 hit
PRINTSiPR00206 CONNEXIN
PR01137 CONNEXINA8
SMARTiView protein in SMART
SM00037 CNX, 1 hit
SM01089 Connexin_CCC, 1 hit
PROSITEiView protein in PROSITE
PS00407 CONNEXINS_1, 1 hit
PS00408 CONNEXINS_2, 1 hit

Sequencei

Sequence statusi: Complete.

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 dbSNP:rs80358203EnsemblClinVar.1
Natural variantiVAR_03879844V → E in CTRCT1; cataract with microcornea. 1 PublicationCorresponds to variant dbSNP:rs80358204EnsemblClinVar.1
Natural variantiVAR_06957947D → N in CTRCT1; incomplete penetrance; results in loss of function. 3 PublicationsCorresponds to variant dbSNP:rs121434643EnsemblClinVar.1
Natural variantiVAR_03879948E → K in CTRCT1; zonular pulverulent. 1 PublicationCorresponds to variant dbSNP:rs80358201EnsemblClinVar.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 dbSNP:rs80358200EnsemblClinVar.1
Natural variantiVAR_038800198R → Q in CTRCT1; cataract with microcornea. 1 PublicationCorresponds to variant dbSNP:rs80358205EnsemblClinVar.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 dbSNP:rs80358202EnsemblClinVar.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

Similar proteinsi

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
IntActiP48165, 82 interactors
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
PeptideAtlasiP48165
PRIDEiP48165
ProteomicsDBi55868

Protocols and materials databases

DNASUi2703
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000369235; ENSP00000358238; ENSG00000121634
GeneIDi2703
KEGGihsa:2703

Organism-specific databases

CTDi2703
DisGeNETi2703
EuPathDBiHostDB:ENSG00000121634.5
GeneCardsiGJA8
HGNCiHGNC:4281 GJA8
HPAiHPA014715
HPA062940
MalaCardsiGJA8
MIMi116200 phenotype
600897 gene
neXtProtiNX_P48165
OpenTargetsiENSG00000121634
Orphaneti1377 Cataract-microcornea syndrome
98991 Early-onset nuclear cataract
98985 Early-onset sutural cataract
91490 Isolated congenital sclerocornea
98984 Pulverulent cataract
98994 Total early-onset cataract
PharmGKBiPA28692
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IF3Z Eukaryota
ENOG410ZC96 LUCA
GeneTreeiENSGT00910000143998
HOGENOMiHOG000231127
HOVERGENiHBG009576
InParanoidiP48165
KOiK07617
OMAiLRTYICH
OrthoDBiEOG091G0FKH
PhylomeDBiP48165
TreeFamiTF329606

Enzyme and pathway databases

ReactomeiR-HSA-190861 Gap junction assembly

Miscellaneous databases

GeneWikiiGJA8
GenomeRNAii2703
PROiPR:P48165
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000121634 Expressed in 16 organ(s), highest expression level in prostate gland
CleanExiHS_GJA8
ExpressionAtlasiP48165 baseline and differential
GenevisibleiP48165 HS

Family and domain databases

Gene3Di1.20.1440.80, 1 hit
InterProiView protein in InterPro
IPR000500 Connexin
IPR002266 Connexin50
IPR019570 Connexin_CCC
IPR017990 Connexin_CS
IPR013092 Connexin_N
IPR038359 Connexin_N_sf
PANTHERiPTHR11984 PTHR11984, 1 hit
PTHR11984:SF19 PTHR11984:SF19, 1 hit
PfamiView protein in Pfam
PF00029 Connexin, 1 hit
PF03509 Connexin50, 1 hit
PRINTSiPR00206 CONNEXIN
PR01137 CONNEXINA8
SMARTiView protein in SMART
SM00037 CNX, 1 hit
SM01089 Connexin_CCC, 1 hit
PROSITEiView protein in PROSITE
PS00407 CONNEXINS_1, 1 hit
PS00408 CONNEXINS_2, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiCXA8_HUMAN
AccessioniPrimary (citable) accession number: P48165
Secondary accession number(s): A7L5M5, Q5VVN9, Q9NP25
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 1, 1996
Last sequence update: January 23, 2007
Last modified: November 7, 2018
This is version 169 of the entry and version 3 of the sequence. See 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. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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