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Protein

Gap junction alpha-3 protein

Gene

GJA3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell.

GO - Molecular functioni

GO - Biological processi

  • cell-cell signaling Source: ProtInc
  • response to hydrogen peroxide Source: Ensembl
  • response to pH Source: Ensembl
  • transport Source: ProtInc
  • visual perception Source: ProtInc
Complete GO annotation...

Enzyme and pathway databases

ReactomeiR-HSA-190861. Gap junction assembly.

Protein family/group databases

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

Names & Taxonomyi

Protein namesi
Recommended name:
Gap junction alpha-3 protein
Alternative name(s):
Connexin-46
Short name:
Cx46
Gene namesi
Name:GJA3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 13

Organism-specific databases

HGNCiHGNC:4277. GJA3.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 1919CytoplasmicSequence analysisAdd
BLAST
Transmembranei20 – 4021HelicalSequence analysisAdd
BLAST
Topological domaini41 – 7636ExtracellularSequence analysisAdd
BLAST
Transmembranei77 – 9721HelicalSequence analysisAdd
BLAST
Topological domaini98 – 15255CytoplasmicSequence analysisAdd
BLAST
Transmembranei153 – 17321HelicalSequence analysisAdd
BLAST
Topological domaini174 – 20128ExtracellularSequence analysisAdd
BLAST
Transmembranei202 – 22221HelicalSequence analysisAdd
BLAST
Topological domaini223 – 435213CytoplasmicSequence analysisAdd
BLAST

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cell junction, Cell membrane, Gap junction, Membrane

Pathology & Biotechi

Involvement in diseasei

Cataract 14, multiple types (CTRCT14)21 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.
See also OMIM:601885
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti2 – 21G → D in CTRCT14; nuclear pulverulent and posterior polar cataract; the mutant affects the formation of gap junction plaques; affects hemichannel permeability. 1 Publication
Corresponds to variant rs397514703 [ dbSNP | Ensembl ].
VAR_066710
Natural varianti3 – 31D → Y in CTRCT14. 1 Publication
VAR_066711
Natural varianti28 – 281V → M in CTRCT14. 1 Publication
VAR_066712
Natural varianti32 – 321F → L in CTRCT14; nuclear pulverulent cataract. 1 Publication
VAR_030021
Natural varianti33 – 331R → L in CTRCT14. 1 Publication
VAR_066713
Natural varianti44 – 441V → M in CTRCT14; nuclear cataract. 2 Publications
VAR_066714
Natural varianti45 – 451W → S in CTRCT14; nuclear progressive cataract. 1 Publication
VAR_038796
Natural varianti47 – 471D → N in CTRCT14; nuclear cataract. 2 Publications
VAR_066715
Natural varianti48 – 481E → G in CTRCT14. 1 Publication
VAR_075211
Natural varianti59 – 591P → L in CTRCT14; nuclear punctate cataract. 1 Publication
VAR_030022
Natural varianti63 – 631N → S in CTRCT14. 1 Publication
Corresponds to variant rs121917823 [ dbSNP | Ensembl ].
VAR_009158
Natural varianti76 – 761R → G in CTRCT14. 1 Publication
VAR_066716
Natural varianti76 – 761R → H in CTRCT14; not fully penetrant mutation. 1 Publication
Corresponds to variant rs121917827 [ dbSNP | Ensembl ].
VAR_030023
Natural varianti87 – 871T → M in CTRCT14; pearl box cataract. 1 Publication
VAR_066717
Natural varianti143 – 1431G → E in CTRCT14. 1 Publication
VAR_072762
Natural varianti187 – 1871P → L in CTRCT14. 1 Publication
Corresponds to variant rs121917825 [ dbSNP | Ensembl ].
VAR_023447
Natural varianti187 – 1871P → S in CTRCT14; central nuclear cataract with punctate opacities. 1 Publication
VAR_066718
Natural varianti188 – 1881N → I in CTRCT14. 2 Publications
Corresponds to variant rs140332366 [ dbSNP | Ensembl ].
VAR_072763
Natural varianti188 – 1881N → T in CTRCT14; nuclear pulverulent cataract. 1 Publication
Corresponds to variant rs140332366 [ dbSNP | Ensembl ].
VAR_066719

Keywords - Diseasei

Cataract, Disease mutation

Organism-specific databases

MalaCardsiGJA3.
MIMi601885. phenotype.
Orphaneti98986. Coppock-like cataract.
98991. Nuclear cataract.
98993. Posterior polar cataract.
98984. Pulverulent cataract.

Polymorphism and mutation databases

BioMutaiGJA3.
DMDMi311033478.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 435435Gap junction alpha-3 proteinPRO_0000057810Add
BLAST

Proteomic databases

PaxDbiQ9Y6H8.
PeptideAtlasiQ9Y6H8.
PRIDEiQ9Y6H8.

PTM databases

iPTMnetiQ9Y6H8.
PhosphoSiteiQ9Y6H8.
SwissPalmiQ9Y6H8.

Expressioni

Gene expression databases

BgeeiENSG00000121743.
CleanExiHS_GJA3.
GenevisibleiQ9Y6H8. HS.

Interactioni

Subunit structurei

A connexon is composed of a hexamer of connexins. This particular connexin is a component of lens fiber gap junctions, can form both junctional and non-junctional ("hemi-") channels.

Protein-protein interaction databases

BioGridi108967. 3 interactions.
STRINGi9606.ENSP00000241125.

Structurei

3D structure databases

ProteinModelPortaliQ9Y6H8.
SMRiQ9Y6H8. Positions 3-225.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IF3Z. Eukaryota.
ENOG410ZC96. LUCA.
GeneTreeiENSGT00840000129674.
HOGENOMiHOG000231127.
HOVERGENiHBG009576.
InParanoidiQ9Y6H8.
KOiK07612.
OMAiIGFPPYY.
OrthoDBiEOG091G0BF2.
PhylomeDBiQ9Y6H8.
TreeFamiTF329606.

Family and domain databases

InterProiIPR000500. Connexin.
IPR002262. Connexin46.
IPR019570. Connexin_CCC.
IPR017990. Connexin_CS.
IPR013092. Connexin_N.
[Graphical view]
PANTHERiPTHR11984. PTHR11984. 2 hits.
PTHR11984:SF12. PTHR11984:SF12. 2 hits.
PfamiPF00029. Connexin. 1 hit.
[Graphical view]
PRINTSiPR00206. CONNEXIN.
PR01133. CONNEXINA3.
SMARTiSM00037. CNX. 1 hit.
SM01089. Connexin_CCC. 1 hit.
[Graphical view]
PROSITEiPS00407. CONNEXINS_1. 1 hit.
PS00408. CONNEXINS_2. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

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
Checksum:i6DE161AE6476EB40
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti2 – 21G → D in CTRCT14; nuclear pulverulent and posterior polar cataract; the mutant affects the formation of gap junction plaques; affects hemichannel permeability. 1 Publication
Corresponds to variant rs397514703 [ dbSNP | Ensembl ].
VAR_066710
Natural varianti3 – 31D → Y in CTRCT14. 1 Publication
VAR_066711
Natural varianti11 – 111L → S in cataract; autosomal dominant congenital/infantile "ant-egg" cataract. 1 Publication
VAR_030020
Natural varianti28 – 281V → M in CTRCT14. 1 Publication
VAR_066712
Natural varianti32 – 321F → L in CTRCT14; nuclear pulverulent cataract. 1 Publication
VAR_030021
Natural varianti33 – 331R → L in CTRCT14. 1 Publication
VAR_066713
Natural varianti44 – 441V → M in CTRCT14; nuclear cataract. 2 Publications
VAR_066714
Natural varianti45 – 451W → S in CTRCT14; nuclear progressive cataract. 1 Publication
VAR_038796
Natural varianti47 – 471D → N in CTRCT14; nuclear cataract. 2 Publications
VAR_066715
Natural varianti48 – 481E → G in CTRCT14. 1 Publication
VAR_075211
Natural varianti59 – 591P → L in CTRCT14; nuclear punctate cataract. 1 Publication
VAR_030022
Natural varianti63 – 631N → S in CTRCT14. 1 Publication
Corresponds to variant rs121917823 [ dbSNP | Ensembl ].
VAR_009158
Natural varianti76 – 761R → G in CTRCT14. 1 Publication
VAR_066716
Natural varianti76 – 761R → H in CTRCT14; not fully penetrant mutation. 1 Publication
Corresponds to variant rs121917827 [ dbSNP | Ensembl ].
VAR_030023
Natural varianti87 – 871T → M in CTRCT14; pearl box cataract. 1 Publication
VAR_066717
Natural varianti143 – 1431G → E in CTRCT14. 1 Publication
VAR_072762
Natural varianti187 – 1871P → L in CTRCT14. 1 Publication
Corresponds to variant rs121917825 [ dbSNP | Ensembl ].
VAR_023447
Natural varianti187 – 1871P → S in CTRCT14; central nuclear cataract with punctate opacities. 1 Publication
VAR_066718
Natural varianti188 – 1881N → I in CTRCT14. 2 Publications
Corresponds to variant rs140332366 [ dbSNP | Ensembl ].
VAR_072763
Natural varianti188 – 1881N → T in CTRCT14; nuclear pulverulent cataract. 1 Publication
Corresponds to variant rs140332366 [ dbSNP | Ensembl ].
VAR_066719
Natural varianti299 – 2991L → M.2 Publications
Corresponds to variant rs968566 [ dbSNP | Ensembl ].
VAR_022426

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.
UniGeneiHs.130313.

Genome annotation databases

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

Keywords - Coding sequence diversityi

Polymorphism

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.
UniGeneiHs.130313.

3D structure databases

ProteinModelPortaliQ9Y6H8.
SMRiQ9Y6H8. Positions 3-225.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108967. 3 interactions.
STRINGi9606.ENSP00000241125.

Protein family/group databases

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

PTM databases

iPTMnetiQ9Y6H8.
PhosphoSiteiQ9Y6H8.
SwissPalmiQ9Y6H8.

Polymorphism and mutation databases

BioMutaiGJA3.
DMDMi311033478.

Proteomic databases

PaxDbiQ9Y6H8.
PeptideAtlasiQ9Y6H8.
PRIDEiQ9Y6H8.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi2700.
GeneCardsiGJA3.
H-InvDBHIX0037357.
HGNCiHGNC:4277. GJA3.
MalaCardsiGJA3.
MIMi121015. gene.
601885. phenotype.
neXtProtiNX_Q9Y6H8.
Orphaneti98986. Coppock-like cataract.
98991. Nuclear cataract.
98993. Posterior polar cataract.
98984. Pulverulent cataract.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IF3Z. Eukaryota.
ENOG410ZC96. LUCA.
GeneTreeiENSGT00840000129674.
HOGENOMiHOG000231127.
HOVERGENiHBG009576.
InParanoidiQ9Y6H8.
KOiK07612.
OMAiIGFPPYY.
OrthoDBiEOG091G0BF2.
PhylomeDBiQ9Y6H8.
TreeFamiTF329606.

Enzyme and pathway databases

ReactomeiR-HSA-190861. Gap junction assembly.

Miscellaneous databases

GeneWikiiGJA3.
GenomeRNAii2700.
PROiQ9Y6H8.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000121743.
CleanExiHS_GJA3.
GenevisibleiQ9Y6H8. HS.

Family and domain databases

InterProiIPR000500. Connexin.
IPR002262. Connexin46.
IPR019570. Connexin_CCC.
IPR017990. Connexin_CS.
IPR013092. Connexin_N.
[Graphical view]
PANTHERiPTHR11984. PTHR11984. 2 hits.
PTHR11984:SF12. PTHR11984:SF12. 2 hits.
PfamiPF00029. Connexin. 1 hit.
[Graphical view]
PRINTSiPR00206. CONNEXIN.
PR01133. CONNEXINA3.
SMARTiSM00037. CNX. 1 hit.
SM01089. Connexin_CCC. 1 hit.
[Graphical view]
PROSITEiPS00407. CONNEXINS_1. 1 hit.
PS00408. CONNEXINS_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiCXA3_HUMAN
AccessioniPrimary (citable) accession number: Q9Y6H8
Secondary accession number(s): Q0VAB7, Q9H537
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: November 2, 2010
Last modified: September 7, 2016
This is version 145 of the entry and version 4 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 13
    Human chromosome 13: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  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. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.