Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Entry version 170 (18 Sep 2019)
Sequence version 4 (02 Nov 2010)
Previous versions | rss
Help videoAdd a publicationFeedback
Protein

Gap junction alpha-3 protein

Gene

GJA3

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 lens fiber gap junctions (PubMed:30044662). Gap junctions are dodecameric channels that connect the cytoplasm of adjoining cells (By similarity). They are formed by the docking of two hexameric hemichannels, one from each cell membrane. Small molecules and ions diffuse from one cell to a neighboring cell via the central pore (PubMed:30044662).By similarity1 Publication

<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-3 protein
Alternative name(s):
Connexin-46
Short name:
Cx46
<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:GJA3
<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 13

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:4277 GJA3

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
121015 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9Y6H8

<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 – 15By similarityAdd BLAST14
<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 domaini16 – 19CytoplasmicCurated4
<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>Transmembranei20 – 40HelicalBy similarityAdd BLAST21
Topological domaini41 – 71ExtracellularCuratedAdd BLAST31
Transmembranei72 – 92HelicalBy similarityAdd BLAST21
Topological domaini93 – 152CytoplasmicCuratedAdd BLAST60
Transmembranei153 – 173HelicalBy similarityAdd BLAST21
Topological domaini174 – 201ExtracellularCuratedAdd BLAST28
Transmembranei202 – 222HelicalBy similarityAdd BLAST21
Topological domaini223 – 435CytoplasmicCuratedAdd BLAST213

<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 14, multiple types (CTRCT14)22 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. CTRCT14 includes zonular pulverulent cataract, among others. 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. Usually sharply separated from a clear cortex outside them, they may have projections from their outer edges known as riders or spokes.
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_0667102G → D in CTRCT14; nuclear pulverulent and posterior polar cataract; the mutant affects the formation of gap junction plaques; affects hemichannel permeability. 1 PublicationCorresponds to variant dbSNP:rs397514703EnsemblClinVar.1
Natural variantiVAR_0667113D → Y in CTRCT14. 1 Publication1
Natural variantiVAR_06671228V → M in CTRCT14. 1 PublicationCorresponds to variant dbSNP:rs1555339539EnsemblClinVar.1
Natural variantiVAR_03002132F → L in CTRCT14; nuclear pulverulent cataract. 1 Publication1
Natural variantiVAR_06671333R → L in CTRCT14. 1 Publication1
Natural variantiVAR_06671444V → M in CTRCT14; nuclear cataract. 2 Publications1
Natural variantiVAR_03879645W → S in CTRCT14; nuclear progressive cataract. 1 Publication1
Natural variantiVAR_06671547D → N in CTRCT14; nuclear cataract. 2 Publications1
Natural variantiVAR_07521148E → G in CTRCT14. 1 Publication1
Natural variantiVAR_03002259P → L in CTRCT14; nuclear punctate cataract. 1 PublicationCorresponds to variant dbSNP:rs864309691EnsemblClinVar.1
Natural variantiVAR_00915863N → S in CTRCT14. 1 PublicationCorresponds to variant dbSNP:rs121917823EnsemblClinVar.1
Natural variantiVAR_06671676R → G in CTRCT14; nearly abolishes formation of gap junctions; no significant effect on formation of functional hemichannels. 2 Publications1
Natural variantiVAR_03002376R → H in CTRCT14; nearly abolishes formation of gap junctions; no significant effect on formation of functional hemichannels; not fully penetrant mutation. 2 PublicationsCorresponds to variant dbSNP:rs121917827EnsemblClinVar.1
Natural variantiVAR_06671787T → M in CTRCT14; pearl box cataract. 1 PublicationCorresponds to variant dbSNP:rs864309687EnsemblClinVar.1
Natural variantiVAR_072762143G → E in CTRCT14. 1 Publication1
Natural variantiVAR_023447187P → L in CTRCT14. 1 PublicationCorresponds to variant dbSNP:rs121917825EnsemblClinVar.1
Natural variantiVAR_066718187P → S in CTRCT14; central nuclear cataract with punctate opacities. 1 Publication1
Natural variantiVAR_072763188N → I in CTRCT14. 2 PublicationsCorresponds to variant dbSNP:rs140332366EnsemblClinVar.1
Natural variantiVAR_066719188N → T in CTRCT14; nuclear pulverulent cataract. 1 PublicationCorresponds to variant dbSNP:rs140332366EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi76R → E or K: Abolishes formation of gap junctions. No significant effect on formation of functional hemichannels. 1 Publication1

Keywords - Diseasei

Cataract, Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
2700

MalaCards human disease database

More...
MalaCardsi
GJA3
MIMi601885 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000121743

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

More...
Orphaneti
98991 Early-onset nuclear cataract
98993 Early-onset posterior polar cataract
98984 Pulverulent cataract

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
GJA3

Domain mapping of disease mutations (DMDM)

More...
DMDMi
311033478

<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_00000578102 – 435Gap junction alpha-3 proteinAdd BLAST434

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 ↔ 192By similarity
Disulfide bondi61 ↔ 186By similarity
Disulfide bondi65 ↔ 181By similarity

Keywords - PTMi

Disulfide bond

Proteomic databases

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

More...
PaxDbi
Q9Y6H8

PeptideAtlas

More...
PeptideAtlasi
Q9Y6H8

PRoteomics IDEntifications database

More...
PRIDEi
Q9Y6H8

ProteomicsDB human proteome resource

More...
ProteomicsDBi
86687

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9Y6H8

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

More...
PhosphoSitePlusi
Q9Y6H8

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
Q9Y6H8

<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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000121743 Expressed in 55 organ(s), highest expression level in heart

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9Y6H8 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA014821

<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 GJA8.

By similarity

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
108967, 3 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000241125

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q9Y6H8

Database of comparative protein structure models

More...
ModBasei
Search...

<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

More...
eggNOGi
ENOG410IF3Z Eukaryota
ENOG410ZC96 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00950000182690

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000231127

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9Y6H8

KEGG Orthology (KO)

More...
KOi
K07612

Identification of Orthologs from Complete Genome Data

More...
OMAi
TTVEMHE

Database of Orthologous Groups

More...
OrthoDBi
969321at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9Y6H8

TreeFam database of animal gene trees

More...
TreeFami
TF329606

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
1.20.1440.80, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR000500 Connexin
IPR002262 Connexin46
IPR034634 Connexin_C
IPR019570 Connexin_CCC
IPR017990 Connexin_CS
IPR013092 Connexin_N
IPR038359 Connexin_N_sf

The PANTHER Classification System

More...
PANTHERi
PTHR11984 PTHR11984, 1 hit
PTHR11984:SF12 PTHR11984:SF12, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00029 Connexin, 1 hit

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR00206 CONNEXIN
PR01133 CONNEXINA3

Simple Modular Architecture Research Tool; a protein domain database

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

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF118220 SSF118220, 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.

Q9Y6H8-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MGDWSFLGRL LENAQEHSTV IGKVWLTVLF IFRILVLGAA AEDVWGDEQS
60 70 80 90 100
DFTCNTQQPG CENVCYDRAF PISHIRFWAL QIIFVSTPTL IYLGHVLHIV
110 120 130 140 150
RMEEKKKERE EEEQLKRESP SPKEPPQDNP SSRDDRGRVR MAGALLRTYV
160 170 180 190 200
FNIIFKTLFE VGFIAGQYFL YGFELKPLYR CDRWPCPNTV DCFISRPTEK
210 220 230 240 250
TIFIIFMLAV ACASLLLNML EIYHLGWKKL KQGVTSRLGP DASEAPLGTA
260 270 280 290 300
DPPPLPPSSR PPAVAIGFPP YYAHTAAPLG QARAVGYPGA PPPAADFKLL
310 320 330 340 350
ALTEARGKGQ SAKLYNGHHH LLMTEQNWAN QAAERQPPAL KAYPAASTPA
360 370 380 390 400
APSPVGSSSP PLAHEAEAGA APLLLDGSGS SLEGSALAGT PEEEEQAVTT
410 420 430
AAQMHQPPLP LGDPGRASKA SRASSGRARP EDLAI
Length:435
Mass (Da):47,410
Last modified:November 2, 2010 - v4
<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:i6DE161AE6476EB40
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0667102G → D in CTRCT14; nuclear pulverulent and posterior polar cataract; the mutant affects the formation of gap junction plaques; affects hemichannel permeability. 1 PublicationCorresponds to variant dbSNP:rs397514703EnsemblClinVar.1
Natural variantiVAR_0667113D → Y in CTRCT14. 1 Publication1
Natural variantiVAR_03002011L → S in cataract; autosomal dominant congenital/infantile "ant-egg" cataract. 1 Publication1
Natural variantiVAR_06671228V → M in CTRCT14. 1 PublicationCorresponds to variant dbSNP:rs1555339539EnsemblClinVar.1
Natural variantiVAR_03002132F → L in CTRCT14; nuclear pulverulent cataract. 1 Publication1
Natural variantiVAR_06671333R → L in CTRCT14. 1 Publication1
Natural variantiVAR_06671444V → M in CTRCT14; nuclear cataract. 2 Publications1
Natural variantiVAR_03879645W → S in CTRCT14; nuclear progressive cataract. 1 Publication1
Natural variantiVAR_06671547D → N in CTRCT14; nuclear cataract. 2 Publications1
Natural variantiVAR_07521148E → G in CTRCT14. 1 Publication1
Natural variantiVAR_03002259P → L in CTRCT14; nuclear punctate cataract. 1 PublicationCorresponds to variant dbSNP:rs864309691EnsemblClinVar.1
Natural variantiVAR_00915863N → S in CTRCT14. 1 PublicationCorresponds to variant dbSNP:rs121917823EnsemblClinVar.1
Natural variantiVAR_06671676R → G in CTRCT14; nearly abolishes formation of gap junctions; no significant effect on formation of functional hemichannels. 2 Publications1
Natural variantiVAR_03002376R → H in CTRCT14; nearly abolishes formation of gap junctions; no significant effect on formation of functional hemichannels; not fully penetrant mutation. 2 PublicationsCorresponds to variant dbSNP:rs121917827EnsemblClinVar.1
Natural variantiVAR_06671787T → M in CTRCT14; pearl box cataract. 1 PublicationCorresponds to variant dbSNP:rs864309687EnsemblClinVar.1
Natural variantiVAR_072762143G → E in CTRCT14. 1 Publication1
Natural variantiVAR_023447187P → L in CTRCT14. 1 PublicationCorresponds to variant dbSNP:rs121917825EnsemblClinVar.1
Natural variantiVAR_066718187P → S in CTRCT14; central nuclear cataract with punctate opacities. 1 Publication1
Natural variantiVAR_072763188N → I in CTRCT14. 2 PublicationsCorresponds to variant dbSNP:rs140332366EnsemblClinVar.1
Natural variantiVAR_066719188N → T in CTRCT14; nuclear pulverulent cataract. 1 PublicationCorresponds to variant dbSNP:rs140332366EnsemblClinVar.1
Natural variantiVAR_022426299L → M2 PublicationsCorresponds to variant dbSNP:rs968566EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AF075290 Genomic DNA Translation: AAD42925.1
AL138688 Genomic DNA No translation available.
BC121137 mRNA Translation: AAI21138.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS9289.1

NCBI Reference Sequences

More...
RefSeqi
NP_068773.2, NM_021954.3
XP_011533350.1, XM_011535048.2

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000241125; ENSP00000241125; ENSG00000121743

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
2700

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:2700

UCSC genome browser

More...
UCSCi
uc001umx.2 human

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

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF075290 Genomic DNA Translation: AAD42925.1
AL138688 Genomic DNA No translation available.
BC121137 mRNA Translation: AAI21138.1
CCDSiCCDS9289.1
RefSeqiNP_068773.2, NM_021954.3
XP_011533350.1, XM_011535048.2

3D structure databases

SMRiQ9Y6H8
ModBaseiSearch...

Protein-protein interaction databases

BioGridi108967, 3 interactors
STRINGi9606.ENSP00000241125

Protein family/group databases

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

PTM databases

iPTMnetiQ9Y6H8
PhosphoSitePlusiQ9Y6H8
SwissPalmiQ9Y6H8

Polymorphism and mutation databases

BioMutaiGJA3
DMDMi311033478

Proteomic databases

PaxDbiQ9Y6H8
PeptideAtlasiQ9Y6H8
PRIDEiQ9Y6H8
ProteomicsDBi86687

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000241125; ENSP00000241125; ENSG00000121743
GeneIDi2700
KEGGihsa:2700
UCSCiuc001umx.2 human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
2700
DisGeNETi2700

GeneCards: human genes, protein and diseases

More...
GeneCardsi
GJA3
HGNCiHGNC:4277 GJA3
HPAiHPA014821
MalaCardsiGJA3
MIMi121015 gene
601885 phenotype
neXtProtiNX_Q9Y6H8
OpenTargetsiENSG00000121743
Orphaneti98991 Early-onset nuclear cataract
98993 Early-onset posterior polar cataract
98984 Pulverulent cataract

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IF3Z Eukaryota
ENOG410ZC96 LUCA
GeneTreeiENSGT00950000182690
HOGENOMiHOG000231127
InParanoidiQ9Y6H8
KOiK07612
OMAiTTVEMHE
OrthoDBi969321at2759
PhylomeDBiQ9Y6H8
TreeFamiTF329606

Enzyme and pathway databases

ReactomeiR-HSA-190861 Gap junction assembly

Miscellaneous databases

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
GJA3

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

More...
GenomeRNAii
2700

Pharos

More...
Pharosi
Q9Y6H8

Protein Ontology

More...
PROi
PR:Q9Y6H8

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000121743 Expressed in 55 organ(s), highest expression level in heart
GenevisibleiQ9Y6H8 HS

Family and domain databases

Gene3Di1.20.1440.80, 1 hit
InterProiView protein in InterPro
IPR000500 Connexin
IPR002262 Connexin46
IPR034634 Connexin_C
IPR019570 Connexin_CCC
IPR017990 Connexin_CS
IPR013092 Connexin_N
IPR038359 Connexin_N_sf
PANTHERiPTHR11984 PTHR11984, 1 hit
PTHR11984:SF12 PTHR11984:SF12, 1 hit
PfamiView protein in Pfam
PF00029 Connexin, 1 hit
PRINTSiPR00206 CONNEXIN
PR01133 CONNEXINA3
SMARTiView protein in SMART
SM00037 CNX, 1 hit
SM01089 Connexin_CCC, 1 hit
SUPFAMiSSF118220 SSF118220, 1 hit
PROSITEiView protein in PROSITE
PS00407 CONNEXINS_1, 1 hit
PS00408 CONNEXINS_2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<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 nameiCXA3_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: Q9Y6H8
Secondary accession number(s): Q0VAB7, Q9H537
<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: December 1, 2000
Last sequence update: November 2, 2010
Last modified: September 18, 2019
This is version 170 of the entry and version 4 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 chromosome 13
    Human chromosome 13: entries, gene names and cross-references to MIM
  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. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again