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UniProtKB - P48165 (CXA8_HUMAN)

Entry version 188 (23 Feb 2022)
Sequence version 3 (23 Jan 2007)
Previous versions | rss
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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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		P48165

Reactome - a knowledgebase of biological pathways and processes

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

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		P48165

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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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)

More...MIMi		600897, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P48165

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000121634

<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

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'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%5Flocation%5Fsection">'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%5Flocation%5Fsection">'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)16 Publications
The disease is caused by variants 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_08481025W → R in CTRCT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1114167309EnsemblClinVar.1
Natural variantiVAR_08481139T → R in CTRCT1; unknown pathological significance. 1 Publication1
Natural variantiVAR_03879844V → E in CTRCT1; cataract with microcornea. 1 PublicationCorresponds to variant dbSNP:rs80358204EnsemblClinVar.1
Natural variantiVAR_08481245W → S in CTRCT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs864309688EnsemblClinVar.1
Natural variantiVAR_08481346G → R in CTRCT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1553242554EnsemblClinVar.1
Natural variantiVAR_06957947D → N in CTRCT1; unknown pathological significance; abolishes localization to the plasma membrane and function. 4 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_08481473S → F 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_084815118A → E in CTRCT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs782306193Ensembl.1
Natural variantiVAR_084816162E → K in CTRCT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1114167310EnsemblClinVar.1
Natural variantiVAR_038800198R → Q in CTRCT1; cataract with microcornea. 1 PublicationCorresponds to variant dbSNP:rs80358205EnsemblClinVar.1

Keywords - Diseasei

Cataract, Disease variant

Organism-specific databases

DisGeNET

More...DisGeNETi		2703

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

More...GeneReviewsi		GJA8

MalaCards human disease database

More...MalaCardsi		GJA8
MIMi116200, phenotype

Open Targets

More...OpenTargetsi		ENSG00000121634

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

More...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

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		P48165, Tbio

Genetic variation 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%5Fprocessing%5Fsection">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 or proteolytic cleavage.<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

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		P48165

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

More...PaxDbi		P48165

PeptideAtlas

More...PeptideAtlasi		P48165

PRoteomics IDEntifications database

More...PRIDEi		P48165

ProteomicsDB: a multi-organism proteome resource

More...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 cerebellum and 26 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		P48165, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P48165, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000121634, Tissue enriched (testis)

<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%5Fsection">'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%5Fsection">'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

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

P48165
With#Exp.IntAct
ABL1 - isoform IB [P00519-2]3EBI-17458373,EBI-9254597
ACKR2 [O00590]3EBI-17458373,EBI-13379418
APOA2 [P02652]3EBI-17458373,EBI-1171525
APOD [P05090]3EBI-17458373,EBI-715495
APOL3 - isoform 2 [O95236-2]3EBI-17458373,EBI-11976321
AQP4 [P55087]3EBI-17458373,EBI-10104898
ARL6IP6 [Q8N6S5]3EBI-17458373,EBI-2808844
ATP6V0B [Q99437]3EBI-17458373,EBI-3904417
C2CD2L [O14523]3EBI-17458373,EBI-12822627
CCDC167 [Q9P0B6]3EBI-17458373,EBI-9083477
CCL4 [P13236]3EBI-17458373,EBI-2873970
CD53 [P19397]3EBI-17458373,EBI-6657396
CIAO2A [Q9H5X1]3EBI-17458373,EBI-752069
CLDN19 - isoform 2 [Q8N6F1-2]3EBI-17458373,EBI-12256978
CLDN4 [O14493]3EBI-17458373,EBI-9316372
CLEC1A [Q8NC01]3EBI-17458373,EBI-11996768
CLN6 [Q9NWW5]3EBI-17458373,EBI-6165897
COX20 [Q5RI15]3EBI-17458373,EBI-2834035
CTXN3 [Q4LDR2]3EBI-17458373,EBI-12019274
CYBC1 [Q9BQA9]3EBI-17458373,EBI-2680384
CYP4F2 [P78329]3EBI-17458373,EBI-1752413
DEFB121 [Q5J5C9]3EBI-17458373,EBI-10244198
DOLK [Q9UPQ8]3EBI-17458373,EBI-8645574
ERMP1 [Q7Z2K6]3EBI-17458373,EBI-10976398
FDFT1 [P37268]3EBI-17458373,EBI-714550
FXYD6 [Q9H0Q3]3EBI-17458373,EBI-713304
GIMAP1 [Q8WWP7]3EBI-17458373,EBI-11991950
GIMAP5 [Q96F15]3EBI-17458373,EBI-6166686
GJB2 [P29033]3EBI-17458373,EBI-3905204
GPR108 [Q9NPR9]3EBI-17458373,EBI-11343451
GPR151 [Q8TDV0]3EBI-17458373,EBI-11955647
GPR61 [Q9BZJ8]3EBI-17458373,EBI-12808020
GUCA2A [Q02747]3EBI-17458373,EBI-12244272
IGFBP5 [P24593]3EBI-17458373,EBI-720480
INSIG2 [Q9Y5U4]3EBI-17458373,EBI-8503746
ITGAM [P11215]3EBI-17458373,EBI-2568251
KIR2DL3 [P43628]3EBI-17458373,EBI-8632435
LAPTM4B [Q86VI4]3EBI-17458373,EBI-3267258
LAT - isoform 2 [O43561-2]3EBI-17458373,EBI-8070286
LEPROTL1 [O95214]3EBI-17458373,EBI-750776
LHFPL5 [Q8TAF8]3EBI-17458373,EBI-2820517
MAL [P21145]3EBI-17458373,EBI-3932027
MALL [Q13021]3EBI-17458373,EBI-750078
MARCHF2 [Q9P0N8]3EBI-17458373,EBI-10317612
MFSD11 [O43934]3EBI-17458373,EBI-17633886
MFSD6 [Q6ZSS7]3EBI-17458373,EBI-2858252
MGST2 [Q99735]3EBI-17458373,EBI-11324706
MS4A13 [Q5J8X5]3EBI-17458373,EBI-12070086
ORMDL2 [Q53FV1]3EBI-17458373,EBI-11075081
OTOP2 [Q7RTS6]3EBI-17458373,EBI-7642372
P2RY13 [Q9BPV8]3EBI-17458373,EBI-17459480
PGAP2 - isoform 5 [Q9UHJ9-5]3EBI-17458373,EBI-12092917
PLN [P26678]3EBI-17458373,EBI-692836
PMP22 [Q01453]3EBI-17458373,EBI-2845982
PNLIPRP1 [P54315]3EBI-17458373,EBI-8652812
PRAF2 [O60831]3EBI-17458373,EBI-2506064
PROKR2 [Q8NFJ6]3EBI-17458373,EBI-12902928
PTPRN - isoform 3 [Q16849-3]3EBI-17458373,EBI-10200782
QRFPR [Q96P65]3EBI-17458373,EBI-12820497
REEP6 - isoform 2 [Q96HR9-2]3EBI-17458373,EBI-14065960
RNF152 [Q8N8N0]3EBI-17458373,EBI-2129725
RUSF1 [Q96GQ5]3EBI-17458373,EBI-8636004
RXFP4 [Q8TDU9]3EBI-17458373,EBI-9519524
S1PR5 [Q9H228]3EBI-17458373,EBI-2564169
SCARF1 [Q14162]3EBI-17458373,EBI-12056025
SEC22B [O75396]3EBI-17458373,EBI-1058865
SEC22C [Q9BRL7]3EBI-17458373,EBI-10297029
SEC23A [Q15436]3EBI-17458373,EBI-81088
SFTPC [P11686]3EBI-17458373,EBI-10197617
SLC13A2 [Q13183]3EBI-17458373,EBI-17460043
SLC13A5 [Q86YT5]3EBI-17458373,EBI-12002412
SLC16A12 [Q6ZSM3]3EBI-17458373,EBI-17460560
SLC16A13 [Q7RTY0]3EBI-17458373,EBI-12243266
SLC16A3 [O15427]3EBI-17458373,EBI-7600166
SLC30A3 [Q99726]3EBI-17458373,EBI-10294651
SLC35A4 [Q96G79]3EBI-17458373,EBI-12363689
SLC35F1 [Q5T1Q4]3EBI-17458373,EBI-13365456
SLC35F6 [Q8N357]3EBI-17458373,EBI-713484
SLC38A4 [Q969I6]3EBI-17458373,EBI-17459810
SLC38A7 [Q9NVC3]3EBI-17458373,EBI-10314552
SLC39A2 [Q9NP94]3EBI-17458373,EBI-12898013
SLC39A7 [Q92504]3EBI-17458373,EBI-1051105
SLC39A9 [Q9NUM3]3EBI-17458373,EBI-2823239
SLC52A1 [Q9NWF4]3EBI-17458373,EBI-12904614
SLC66A1 - isoform 3 [Q6ZP29-3]3EBI-17458373,EBI-12889586
SLC66A2 [Q8N2U9]3EBI-17458373,EBI-3907610
SLC8A3 - isoform 8 [P57103-7]3EBI-17458373,EBI-17459901
SMCO4 [Q9NRQ5]3EBI-17458373,EBI-8640191
SMIM1 [B2RUZ4]3EBI-17458373,EBI-12188413
STX1B [P61266]3EBI-17458373,EBI-9071709
STX8 [Q9UNK0]3EBI-17458373,EBI-727240
THSD7B [C9JKN6]3EBI-17458373,EBI-17192156
TMBIM6 [P55061]3EBI-17458373,EBI-1045825
TMEM100 [Q9NV29]3EBI-17458373,EBI-8644968
TMEM107 [Q6UX40]3EBI-17458373,EBI-12845616
TMEM121 [Q9BTD3]3EBI-17458373,EBI-12155101
TMEM128 - isoform 2 [Q5BJH2-2]3EBI-17458373,EBI-10694905
TMEM147 [Q9BVK8]3EBI-17458373,EBI-348587
TMEM182 [Q6ZP80]3EBI-17458373,EBI-10255122
TMEM239 - isoform 2 [Q8WW34-2]3EBI-17458373,EBI-11528917
TMEM242 [Q9NWH2]3EBI-17458373,EBI-10315004
TMEM243 [Q9BU79]3EBI-17458373,EBI-12887458
TMEM42 [Q69YG0]3EBI-17458373,EBI-12038591
TMEM45A [Q9NWC5]3EBI-17458373,EBI-10823938
TMEM60 [Q9H2L4]3EBI-17458373,EBI-2852148
TMEM65 [Q6PI78]3EBI-17458373,EBI-6656213
TMEM72 [A0PK05]3EBI-17458373,EBI-12878352
TMEM86B [Q8N661]3EBI-17458373,EBI-2548832
TSPAN33 [Q86UF1]3EBI-17458373,EBI-12045841
TTMP [Q5BVD1]3EBI-17458373,EBI-10243654
TWSG1 [Q9GZX9]3EBI-17458373,EBI-10304067
UBXN8 [O00124]3EBI-17458373,EBI-1993850
UNC93A - isoform 2 [Q86WB7-2]3EBI-17458373,EBI-13356252
UPK1B [O75841]3EBI-17458373,EBI-12237619
VAMP5 [O95183]3EBI-17458373,EBI-10191195
YIF1A [O95070]3EBI-17458373,EBI-2799703
YIPF6 [Q96EC8]3EBI-17458373,EBI-751210

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		108970, 153 interactors

Protein interaction database and analysis system

More...IntActi		P48165, 117 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000358238

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		P48165, protein

<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		P48165

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

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni110 – 137DisorderedSequence analysisAdd BLAST28
Regioni329 – 433DisorderedSequence analysisAdd BLAST105

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular type of amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi119 – 134Polar residuesSequence analysisAdd BLAST16
Compositional biasi342 – 390Basic and acidic residuesSequence analysisAdd BLAST49

<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

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

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG502QV1K, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT01040000240499

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_037388_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P48165

Identification of Orthologs from Complete Genome Data

More...OMAi		FLNIMEM

Database of Orthologous Groups

More...OrthoDBi		814925at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		P48165

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
IPR002266, Connexin50
IPR019570, Connexin_CCC
IPR017990, Connexin_CS
IPR013092, Connexin_N
IPR038359, Connexin_N_sf

The PANTHER Classification System

More...PANTHERi		PTHR11984, PTHR11984, 1 hit
PTHR11984:SF19, PTHR11984:SF19, 1 hit

Pfam protein domain database

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

Protein Motif fingerprint database; a protein domain database

More...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%5Flength">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%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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_08481025W → R in CTRCT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1114167309EnsemblClinVar.1
Natural variantiVAR_08481139T → R in CTRCT1; unknown pathological significance. 1 Publication1
Natural variantiVAR_03879844V → E in CTRCT1; cataract with microcornea. 1 PublicationCorresponds to variant dbSNP:rs80358204EnsemblClinVar.1
Natural variantiVAR_08481245W → S in CTRCT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs864309688EnsemblClinVar.1
Natural variantiVAR_08481346G → R in CTRCT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1553242554EnsemblClinVar.1
Natural variantiVAR_06957947D → N in CTRCT1; unknown pathological significance; abolishes localization to the plasma membrane and function. 4 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_08481473S → F 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_084815118A → E in CTRCT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs782306193Ensembl.1
Natural variantiVAR_084816162E → K in CTRCT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1114167310EnsemblClinVar.1
Natural variantiVAR_038800198R → Q in CTRCT1; cataract with microcornea. 1 PublicationCorresponds to variant dbSNP:rs80358205EnsemblClinVar.1
Natural variantiVAR_038801247I → 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:

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
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

More...PIRi		I39176

NCBI Reference Sequences

More...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

More...GeneIDi		2703

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:2703

Matched Annotation from NCBI and EMBL-EBI (MANE) - Phase one

More...MANE-Selecti		ENST00000369235.2; ENSP00000358238.1; NM_005267.5; NP_005258.2

<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%5Freferences%5Fsection">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

SMRiP48165
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi108970, 153 interactors
IntActiP48165, 117 interactors
STRINGi9606.ENSP00000358238

Protein family/group databases

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

PTM databases

iPTMnetiP48165
PhosphoSitePlusiP48165

Genetic variation databases

BioMutaiGJA8
DMDMi13124697

Proteomic databases

EPDiP48165
MassIVEiP48165
PaxDbiP48165
PeptideAtlasiP48165
PRIDEiP48165
ProteomicsDBi55868

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		33981, 257 antibodies from 27 providers

The DNASU plasmid repository

More...DNASUi		2703

Genome annotation databases

EnsembliENST00000369235; ENSP00000358238; ENSG00000121634
GeneIDi2703
KEGGihsa:2703
MANE-SelectiENST00000369235.2; ENSP00000358238.1; NM_005267.5; NP_005258.2

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		2703
DisGeNETi2703

GeneCards: human genes, protein and diseases

More...GeneCardsi		GJA8
GeneReviewsiGJA8
HGNCiHGNC:4281, GJA8
HPAiENSG00000121634, Tissue enriched (testis)
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
VEuPathDBiHostDB:ENSG00000121634

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG502QV1K, Eukaryota
GeneTreeiENSGT01040000240499
HOGENOMiCLU_037388_0_0_1
InParanoidiP48165
OMAiFLNIMEM
OrthoDBi814925at2759
PhylomeDBiP48165
TreeFamiTF329606

Enzyme and pathway databases

PathwayCommonsiP48165
ReactomeiR-HSA-190861, Gap junction assembly
SignaLinkiP48165

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		2703, 7 hits in 1030 CRISPR screens

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		GJA8

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

More...GenomeRNAii		2703
PharosiP48165, Tbio

Protein Ontology

More...PROi		PR:P48165
RNActiP48165, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000121634, Expressed in cerebellum and 26 other tissues
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

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 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%5Fand%5Fisoforms">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: February 23, 2022
This is version 188 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

Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families
UniProt is an ELIXIR core data resource
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