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Entry version 174 (08 May 2019)
Sequence version 3 (23 Jan 2007)
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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

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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 Publications

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-190861 Gap junction assembly

Protein family/group databases

Transport Classification Database

More...
TCDBi
1.A.24.1.5 the gap junction-forming connexin (connexin) family

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Gap junction alpha-8 protein
Alternative name(s):
Connexin-50
Short name:
Cx501 Publication
Lens fiber protein MP701 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:GJA8
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 1

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:4281 GJA8

Online Mendelian Inheritance in Man (OMIM)

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MIMi
600897 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P48165

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a region that is buried within a membrane, but does not cross it.<p><a href='/help/intramem' target='_top'>More...</a></p>Intramembranei2 – 12By similarityAdd BLAST11
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini13 – 21CytoplasmicCurated9
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei22 – 42HelicalBy similarityAdd BLAST21
Topological domaini43 – 71ExtracellularCuratedAdd BLAST29
Transmembranei72 – 92HelicalBy similarityAdd BLAST21
Topological domaini93 – 154CytoplasmicCuratedAdd BLAST62
Transmembranei155 – 175HelicalBy similarityAdd BLAST21
Topological domaini176 – 203ExtracellularCuratedAdd BLAST28
Transmembranei204 – 224HelicalBy similarityAdd BLAST21
Topological domaini225 – 433CytoplasmicCuratedAdd BLAST209

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Cellular componenti

Cell junction, Cell membrane, Gap junction, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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

DisGeNET

More...
DisGeNETi
2703

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
GJA8

MalaCards human disease database

More...
MalaCardsi
GJA8
MIMi116200 phenotype

Open Targets

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OpenTargetsi
ENSG00000121634

Orphanet; a database dedicated to information on rare diseases and orphan drugs

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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

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA28692

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
GJA8

Domain mapping of disease mutations (DMDM)

More...
DMDMi
13124697

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemovedBy similarity
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000578302 – 433Gap junction alpha-8 proteinAdd BLAST432

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi54 ↔ 194By similarity
Disulfide bondi61 ↔ 188By similarity
Disulfide bondi65 ↔ 183By similarity

Keywords - PTMi

Disulfide bond

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
P48165

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
P48165

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
P48165

PeptideAtlas

More...
PeptideAtlasi
P48165

PRoteomics IDEntifications database

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PRIDEi
P48165

ProteomicsDB human proteome resource

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ProteomicsDBi
55868

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
P48165

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
P48165

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Eye lens.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000121634 Expressed in 16 organ(s), highest expression level in prostate gland

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P48165 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P48165 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA014715
HPA062940

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>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 similarity

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
108970, 2 interactors

Protein interaction database and analysis system

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IntActi
P48165, 82 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000358238

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
ENOG410IF3Z Eukaryota
ENOG410ZC96 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00950000182690

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000231127

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P48165

KEGG Orthology (KO)

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KOi
K07617

Identification of Orthologs from Complete Genome Data

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OMAi
LRTYICH

Database of Orthologous Groups

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OrthoDBi
814925at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
P48165

TreeFam database of animal gene trees

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TreeFami
TF329606

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
1.20.1440.80, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR000500 Connexin
IPR002266 Connexin50
IPR019570 Connexin_CCC
IPR017990 Connexin_CS
IPR013092 Connexin_N
IPR038359 Connexin_N_sf

The PANTHER Classification System

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PANTHERi
PTHR11984 PTHR11984, 1 hit
PTHR11984:SF19 PTHR11984:SF19, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF00029 Connexin, 1 hit
PF03509 Connexin50, 1 hit

Protein Motif fingerprint database; a protein domain database

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PRINTSi
PR00206 CONNEXIN
PR01137 CONNEXINA8

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00037 CNX, 1 hit
SM01089 Connexin_CCC, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00407 CONNEXINS_1, 1 hit
PS00408 CONNEXINS_2, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequencei

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iD2BF6CD1C8768636
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
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

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS30834.1

Protein sequence database of the Protein Information Resource

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PIRi
I39176

NCBI Reference Sequences

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RefSeqi
NP_005258.2, NM_005267.4
XP_011507718.1, XM_011509416.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000369235; ENSP00000358238; ENSG00000121634

Database of genes from NCBI RefSeq genomes

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GeneIDi
2703

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:2703

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>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

3D structure databases

Database of comparative protein structure models

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ModBasei
Search...

SWISS-MODEL Interactive Workspace

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SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

BioGridi108970, 2 interactors
IntActiP48165, 82 interactors
STRINGi9606.ENSP00000358238

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
jPOSTiP48165
PaxDbiP48165
PeptideAtlasiP48165
PRIDEiP48165
ProteomicsDBi55868

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
2703
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000369235; ENSP00000358238; ENSG00000121634
GeneIDi2703
KEGGihsa:2703

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
2703
DisGeNETi2703

GeneCards: human genes, protein and diseases

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GeneCardsi
GJA8
GeneReviewsiGJA8
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

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiENOG410IF3Z Eukaryota
ENOG410ZC96 LUCA
GeneTreeiENSGT00950000182690
HOGENOMiHOG000231127
InParanoidiP48165
KOiK07617
OMAiLRTYICH
OrthoDBi814925at2759
PhylomeDBiP48165
TreeFamiTF329606

Enzyme and pathway databases

ReactomeiR-HSA-190861 Gap junction assembly

Miscellaneous databases

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
GJA8

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
2703

Protein Ontology

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PROi
PR:P48165

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000121634 Expressed in 16 organ(s), highest expression level in prostate gland
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

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiCXA8_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P48165
Secondary accession number(s): A7L5M5, Q5VVN9, Q9NP25
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 1, 1996
Last sequence update: January 23, 2007
Last modified: May 8, 2019
This is version 174 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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