UniProtKB - P48165 (CXA8_HUMAN)
Gap junction alpha-8 protein
GJA8
Functioni
Structural component of eye lens gap junctions (PubMed:18006672, PubMed:19756179).
Gap junctions are dodecameric channels that connect the cytoplasm of adjoining cells. They are formed by the docking of two hexameric hemichannels, one from each cell membrane (By similarity).
Small molecules and ions diffuse from one cell to a neighboring cell via the central pore (PubMed:18006672, PubMed:19756179).
By similarity2 PublicationsGO - Molecular functioni
- gap junction channel activity Source: UniProtKB
- identical protein binding Source: Ensembl
GO - Biological processi
- cell-cell signaling Source: GO_Central
- gap junction-mediated intercellular transport Source: UniProtKB
- lens development in camera-type eye Source: Ensembl
Enzyme and pathway databases
PathwayCommonsi | P48165 |
Reactomei | R-HSA-190861, Gap junction assembly |
SignaLinki | P48165 |
Protein family/group databases
TCDBi | 1.A.24.1.5, the gap junction-forming connexin (connexin) family |
Names & Taxonomyi
Protein namesi | Recommended name: Gap junction alpha-8 proteinAlternative name(s): Connexin-50 Short name: Cx501 Publication Lens fiber protein MP701 Publication |
Gene namesi | Name:GJA8 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:4281, GJA8 |
MIMi | 600897, gene |
neXtProti | NX_P48165 |
VEuPathDBi | HostDB:ENSG00000121634 |
Subcellular locationi
Plasma membrane
- Cell membrane 3 Publications; Multi-pass membrane protein By similarity
Other locations
- gap junction 2 Publications
Plasma Membrane
- connexin complex Source: UniProtKB
- integral component of plasma membrane Source: UniProtKB
- plasma membrane Source: UniProtKB
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Intramembranei | 2 – 12 | By similarityAdd BLAST | 11 | |
Topological domaini | 13 – 21 | CytoplasmicCurated | 9 | |
Transmembranei | 22 – 42 | HelicalBy similarityAdd BLAST | 21 | |
Topological domaini | 43 – 71 | ExtracellularCuratedAdd BLAST | 29 | |
Transmembranei | 72 – 92 | HelicalBy similarityAdd BLAST | 21 | |
Topological domaini | 93 – 154 | CytoplasmicCuratedAdd BLAST | 62 | |
Transmembranei | 155 – 175 | HelicalBy similarityAdd BLAST | 21 | |
Topological domaini | 176 – 203 | ExtracellularCuratedAdd BLAST | 28 | |
Transmembranei | 204 – 224 | HelicalBy similarityAdd BLAST | 21 | |
Topological domaini | 225 – 433 | CytoplasmicCuratedAdd BLAST | 209 |
Keywords - Cellular componenti
Cell junction, Cell membrane, Gap junction, MembranePathology & Biotechi
Involvement in diseasei
Cataract 1, multiple types (CTRCT1)16 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_038797 | 23 | R → T in CTRCT1; nuclear progressive cataract. 1 PublicationCorresponds to variant dbSNP:rs80358203EnsemblClinVar. | 1 | |
Natural variantiVAR_084810 | 25 | W → R in CTRCT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1114167309EnsemblClinVar. | 1 | |
Natural variantiVAR_084811 | 39 | T → R in CTRCT1; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_038798 | 44 | V → E in CTRCT1; cataract with microcornea. 1 PublicationCorresponds to variant dbSNP:rs80358204EnsemblClinVar. | 1 | |
Natural variantiVAR_084812 | 45 | W → S in CTRCT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs864309688EnsemblClinVar. | 1 | |
Natural variantiVAR_084813 | 46 | G → R in CTRCT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1553242554EnsemblClinVar. | 1 | |
Natural variantiVAR_069579 | 47 | D → N in CTRCT1; unknown pathological significance; abolishes localization to the plasma membrane and function. 4 PublicationsCorresponds to variant dbSNP:rs121434643EnsemblClinVar. | 1 | |
Natural variantiVAR_038799 | 48 | E → K in CTRCT1; zonular pulverulent. 1 PublicationCorresponds to variant dbSNP:rs80358201EnsemblClinVar. | 1 | |
Natural variantiVAR_037642 | 64 | V → G in CTRCT1; zonular pulverulent and nuclear progressive cataract. 2 Publications | 1 | |
Natural variantiVAR_070021 | 67 | D → G in CTRCT1. 1 Publication | 1 | |
Natural variantiVAR_084814 | 73 | S → F in CTRCT1. 1 Publication | 1 | |
Natural variantiVAR_070022 | 76 | R → C in CTRCT1. 1 Publication | 1 | |
Natural variantiVAR_002005 | 88 | P → S in CTRCT1; zonular pulverulent. 1 PublicationCorresponds to variant dbSNP:rs80358200EnsemblClinVar. | 1 | |
Natural variantiVAR_084815 | 118 | A → E in CTRCT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs782306193Ensembl. | 1 | |
Natural variantiVAR_084816 | 162 | E → K in CTRCT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1114167310EnsemblClinVar. | 1 | |
Natural variantiVAR_038800 | 198 | R → Q in CTRCT1; cataract with microcornea. 1 PublicationCorresponds to variant dbSNP:rs80358205EnsemblClinVar. | 1 |
Keywords - Diseasei
Cataract, Disease variantOrganism-specific databases
DisGeNETi | 2703 |
GeneReviewsi | GJA8 |
MalaCardsi | GJA8 |
MIMi | 116200, phenotype |
OpenTargetsi | ENSG00000121634 |
Orphaneti | 1377, 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 |
PharmGKBi | PA28692 |
Miscellaneous databases
Pharosi | P48165, Tbio |
Genetic variation databases
BioMutai | GJA8 |
DMDMi | 13124697 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Initiator methioninei | RemovedBy similarity | |||
ChainiPRO_0000057830 | 2 – 433 | Gap junction alpha-8 proteinAdd BLAST | 432 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Disulfide bondi | 54 ↔ 194 | By similarity | ||
Disulfide bondi | 61 ↔ 188 | By similarity | ||
Disulfide bondi | 65 ↔ 183 | By similarity |
Keywords - PTMi
Disulfide bondProteomic databases
EPDi | P48165 |
MassIVEi | P48165 |
PaxDbi | P48165 |
PeptideAtlasi | P48165 |
PRIDEi | P48165 |
ProteomicsDBi | 55868 |
PTM databases
iPTMneti | P48165 |
PhosphoSitePlusi | P48165 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000121634, Expressed in cerebellum and 26 other tissues |
ExpressionAtlasi | P48165, baseline and differential |
Genevisiblei | P48165, HS |
Organism-specific databases
HPAi | ENSG00000121634, Tissue enriched (testis) |
Interactioni
Subunit structurei
A hemichannel or connexon is composed of a hexamer of connexins. A functional gap junction is formed by the apposition of two hemichannels. Forms heteromeric channels with GJA3.
By similarityBinary interactionsi
P48165
GO - Molecular functioni
- identical protein binding Source: Ensembl
Protein-protein interaction databases
BioGRIDi | 108970, 153 interactors |
IntActi | P48165, 117 interactors |
STRINGi | 9606.ENSP00000358238 |
Miscellaneous databases
RNActi | P48165, protein |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 110 – 137 | DisorderedSequence analysisAdd BLAST | 28 | |
Regioni | 329 – 433 | DisorderedSequence analysisAdd BLAST | 105 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 119 – 134 | Polar residuesSequence analysisAdd BLAST | 16 | |
Compositional biasi | 342 – 390 | Basic and acidic residuesSequence analysisAdd BLAST | 49 |
Sequence similaritiesi
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | ENOG502QV1K, Eukaryota |
GeneTreei | ENSGT01040000240499 |
HOGENOMi | CLU_037388_0_0_1 |
InParanoidi | P48165 |
OMAi | FLNIMEM |
OrthoDBi | 814925at2759 |
PhylomeDBi | P48165 |
TreeFami | TF329606 |
Family and domain databases
Gene3Di | 1.20.1440.80, 1 hit |
InterProi | View protein in InterPro IPR000500, Connexin IPR002266, Connexin50 IPR019570, Connexin_CCC IPR017990, Connexin_CS IPR013092, Connexin_N IPR038359, Connexin_N_sf |
PANTHERi | PTHR11984, PTHR11984, 1 hit PTHR11984:SF19, PTHR11984:SF19, 1 hit |
Pfami | View protein in Pfam PF00029, Connexin, 1 hit PF03509, Connexin50, 1 hit |
PRINTSi | PR00206, CONNEXIN PR01137, CONNEXINA8 |
SMARTi | View protein in SMART SM00037, CNX, 1 hit SM01089, Connexin_CCC, 1 hit |
PROSITEi | View protein in PROSITE PS00407, CONNEXINS_1, 1 hit PS00408, CONNEXINS_2, 1 hit |
i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
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
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 110 – 111 | EA → D in AAA77062 (PubMed:7796604).Curated | 2 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_038797 | 23 | R → T in CTRCT1; nuclear progressive cataract. 1 PublicationCorresponds to variant dbSNP:rs80358203EnsemblClinVar. | 1 | |
Natural variantiVAR_084810 | 25 | W → R in CTRCT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1114167309EnsemblClinVar. | 1 | |
Natural variantiVAR_084811 | 39 | T → R in CTRCT1; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_038798 | 44 | V → E in CTRCT1; cataract with microcornea. 1 PublicationCorresponds to variant dbSNP:rs80358204EnsemblClinVar. | 1 | |
Natural variantiVAR_084812 | 45 | W → S in CTRCT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs864309688EnsemblClinVar. | 1 | |
Natural variantiVAR_084813 | 46 | G → R in CTRCT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1553242554EnsemblClinVar. | 1 | |
Natural variantiVAR_069579 | 47 | D → N in CTRCT1; unknown pathological significance; abolishes localization to the plasma membrane and function. 4 PublicationsCorresponds to variant dbSNP:rs121434643EnsemblClinVar. | 1 | |
Natural variantiVAR_038799 | 48 | E → K in CTRCT1; zonular pulverulent. 1 PublicationCorresponds to variant dbSNP:rs80358201EnsemblClinVar. | 1 | |
Natural variantiVAR_037642 | 64 | V → G in CTRCT1; zonular pulverulent and nuclear progressive cataract. 2 Publications | 1 | |
Natural variantiVAR_070021 | 67 | D → G in CTRCT1. 1 Publication | 1 | |
Natural variantiVAR_084814 | 73 | S → F in CTRCT1. 1 Publication | 1 | |
Natural variantiVAR_070022 | 76 | R → C in CTRCT1. 1 Publication | 1 | |
Natural variantiVAR_002005 | 88 | P → S in CTRCT1; zonular pulverulent. 1 PublicationCorresponds to variant dbSNP:rs80358200EnsemblClinVar. | 1 | |
Natural variantiVAR_084815 | 118 | A → E in CTRCT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs782306193Ensembl. | 1 | |
Natural variantiVAR_084816 | 162 | E → K in CTRCT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1114167310EnsemblClinVar. | 1 | |
Natural variantiVAR_038800 | 198 | R → Q in CTRCT1; cataract with microcornea. 1 PublicationCorresponds to variant dbSNP:rs80358205EnsemblClinVar. | 1 | |
Natural variantiVAR_038801 | 247 | I → M Likely benign variant; 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 |
CCDSi | CCDS30834.1 |
PIRi | I39176 |
RefSeqi | NP_005258.2, NM_005267.4 XP_011507718.1, XM_011509416.1 |
Genome annotation databases
Ensembli | ENST00000369235; ENSP00000358238; ENSG00000121634 |
GeneIDi | 2703 |
KEGGi | hsa:2703 |
MANE-Selecti | ENST00000369235.2; ENSP00000358238.1; NM_005267.5; NP_005258.2 |
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 |
CCDSi | CCDS30834.1 |
PIRi | I39176 |
RefSeqi | NP_005258.2, NM_005267.4 XP_011507718.1, XM_011509416.1 |
3D structure databases
SMRi | P48165 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 108970, 153 interactors |
IntActi | P48165, 117 interactors |
STRINGi | 9606.ENSP00000358238 |
Protein family/group databases
TCDBi | 1.A.24.1.5, the gap junction-forming connexin (connexin) family |
PTM databases
iPTMneti | P48165 |
PhosphoSitePlusi | P48165 |
Genetic variation databases
BioMutai | GJA8 |
DMDMi | 13124697 |
Proteomic databases
EPDi | P48165 |
MassIVEi | P48165 |
PaxDbi | P48165 |
PeptideAtlasi | P48165 |
PRIDEi | P48165 |
ProteomicsDBi | 55868 |
Protocols and materials databases
Antibodypediai | 33981, 257 antibodies from 27 providers |
DNASUi | 2703 |
Genome annotation databases
Ensembli | ENST00000369235; ENSP00000358238; ENSG00000121634 |
GeneIDi | 2703 |
KEGGi | hsa:2703 |
MANE-Selecti | ENST00000369235.2; ENSP00000358238.1; NM_005267.5; NP_005258.2 |
Organism-specific databases
CTDi | 2703 |
DisGeNETi | 2703 |
GeneCardsi | GJA8 |
GeneReviewsi | GJA8 |
HGNCi | HGNC:4281, GJA8 |
HPAi | ENSG00000121634, Tissue enriched (testis) |
MalaCardsi | GJA8 |
MIMi | 116200, phenotype 600897, gene |
neXtProti | NX_P48165 |
OpenTargetsi | ENSG00000121634 |
Orphaneti | 1377, 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 |
PharmGKBi | PA28692 |
VEuPathDBi | HostDB:ENSG00000121634 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502QV1K, Eukaryota |
GeneTreei | ENSGT01040000240499 |
HOGENOMi | CLU_037388_0_0_1 |
InParanoidi | P48165 |
OMAi | FLNIMEM |
OrthoDBi | 814925at2759 |
PhylomeDBi | P48165 |
TreeFami | TF329606 |
Enzyme and pathway databases
PathwayCommonsi | P48165 |
Reactomei | R-HSA-190861, Gap junction assembly |
SignaLinki | P48165 |
Miscellaneous databases
BioGRID-ORCSi | 2703, 7 hits in 1030 CRISPR screens |
GeneWikii | GJA8 |
GenomeRNAii | 2703 |
Pharosi | P48165, Tbio |
PROi | PR:P48165 |
RNActi | P48165, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000121634, Expressed in cerebellum and 26 other tissues |
ExpressionAtlasi | P48165, baseline and differential |
Genevisiblei | P48165, HS |
Family and domain databases
Gene3Di | 1.20.1440.80, 1 hit |
InterProi | View protein in InterPro IPR000500, Connexin IPR002266, Connexin50 IPR019570, Connexin_CCC IPR017990, Connexin_CS IPR013092, Connexin_N IPR038359, Connexin_N_sf |
PANTHERi | PTHR11984, PTHR11984, 1 hit PTHR11984:SF19, PTHR11984:SF19, 1 hit |
Pfami | View protein in Pfam PF00029, Connexin, 1 hit PF03509, Connexin50, 1 hit |
PRINTSi | PR00206, CONNEXIN PR01137, CONNEXINA8 |
SMARTi | View protein in SMART SM00037, CNX, 1 hit SM01089, Connexin_CCC, 1 hit |
PROSITEi | View protein in PROSITE PS00407, CONNEXINS_1, 1 hit PS00408, CONNEXINS_2, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | CXA8_HUMAN | |
Accessioni | P48165Primary (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: | February 23, 2022 | |
This is version 188 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human chromosome 1
Human chromosome 1: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families