P48165 · CXA8_HUMAN
- ProteinGap junction alpha-8 protein
- GeneGJA8
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids433 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
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).
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).
GO annotations
all annotations | all molecular function | virus receptor activity | dna binding | rna binding | cytoskeletal motor activity | catalytic activity | gtpase activity | structural molecule activity | transporter activity | cytoskeletal protein binding | lipid binding | cyclase activity | antioxidant activity | oxidoreductase activity | transferase activity | hydrolase activity | lyase activity | isomerase activity | ligase activity | protein tag activity | cargo receptor activity | histone binding | protein folding chaperone | translation regulator activity | nutrient reservoir activity | receptor ligand activity | molecular transducer activity | molecular adaptor activity | toxin activity | cell adhesion mediator activity | molecular function regulator activity | virus coreceptor activity | catalytic activity, acting on a protein | catalytic activity, acting on dna | catalytic activity, acting on rna | molecular carrier activity | transcription regulator activity | general transcription initiation factor activity | molecular sensor activity | molecular sequestering activity | atp-dependent activity | other molecular function | all biological process | mitotic cell cycle | cytokinesis | cytoplasmic translation | immune system process | muscle system process | circulatory system process | renal system process | respiratory system process | carbohydrate metabolic process | generation of precursor metabolites and energy | dna replication | dna repair | dna recombination | chromatin organization | dna-templated transcription | regulation of dna-templated transcription | trna metabolic process | protein folding | protein glycosylation | amino acid metabolic process | modified amino acid metabolic process | lipid metabolic process | vitamin metabolic process | sulfur compound metabolic process | intracellular protein transport | nucleocytoplasmic transport | autophagy | inflammatory response | mitochondrion organization | cytoskeleton organization | microtubule-based movement | peroxisome organization | lysosome organization | chromosome segregation | cell adhesion | establishment or maintenance of cell polarity | programmed cell death | photosynthesis | mrna metabolic process | snrna metabolic process | vesicle-mediated transport | reproductive process | digestive system process | signaling | cell differentiation | protein catabolic process | extracellular matrix organization | regulatory ncrna-mediated gene silencing | telomere organization | cell junction organization | wound healing | ribosome biogenesis | cilium organization | anatomical structure development | cell motility | nervous system process | endocrine process | protein maturation | transmembrane transport | nucleobase-containing small molecule metabolic process | hepaticobiliary system process | membrane organization | protein-containing complex assembly | cell wall organization or biogenesis | nitrogen cycle metabolic process | protein localization to plasma membrane | defense response to other organism | detoxification | meiotic nuclear division | mitotic nuclear division | mitochondrial gene expression | carbohydrate derivative metabolic process | other biological process | all cellular component | nuclear chromosome | extracellular region | extracellular space | cell wall | nucleus | nuclear envelope | nucleoplasm | chromosome | nucleolus | mitochondrion | lysosome | endosome | vacuole | peroxisome | endoplasmic reticulum | golgi apparatus | lipid droplet | microtubule organizing center | cytosol | ribosome | cytoskeleton | plasma membrane | cilium | plastid | thylakoid | external encapsulating structure | extracellular matrix | cytoplasmic vesicle | organelle | other cellular component | |||
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Aspect | Term | |
---|---|---|
Cellular Component | connexin complex | |
Cellular Component | plasma membrane | |
Molecular Function | gap junction channel activity | |
Molecular Function | identical protein binding | |
Biological Process | cell-cell signaling | |
Biological Process | gap junction-mediated intercellular transport | |
Biological Process | lens development in camera-type eye | |
Biological Process | regulation of granulocyte macrophage colony-stimulating factor production |
Enzyme and pathway databases
Protein family/group databases
Names & Taxonomy
Protein names
- Recommended nameGap junction alpha-8 protein
- Alternative names
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionP48165
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
UniProt Annotation
GO Annotation
Cell membrane ; Multi-pass membrane protein
Features
Showing features for intramembrane, topological domain, transmembrane.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Intramembrane | 2-12 | |||||
Sequence: GDWSFLGNILE | ||||||
Topological domain | 13-21 | Cytoplasmic | ||||
Sequence: EVNEHSTVI | ||||||
Transmembrane | 22-42 | Helical | ||||
Sequence: GRVWLTVLFIFRILILGTAAE | ||||||
Topological domain | 43-71 | Extracellular | ||||
Sequence: FVWGDEQSDFVCNTQQPGCENVCYDEAFP | ||||||
Transmembrane | 72-92 | Helical | ||||
Sequence: ISHIRLWVLQIIFVSTPSLMY | ||||||
Topological domain | 93-154 | Cytoplasmic | ||||
Sequence: VGHAVHYVRMEEKRKSREAEELGQQAGTNGGPDQGSVKKSSGSKGTKKFRLEGTLLRTYICH | ||||||
Transmembrane | 155-175 | Helical | ||||
Sequence: IIFKTLFEVGFIVGHYFLYGF | ||||||
Topological domain | 176-203 | Extracellular | ||||
Sequence: RILPLYRCSRWPCPNVVDCFVSRPTEKT | ||||||
Transmembrane | 204-224 | Helical | ||||
Sequence: IFILFMLSVASVSLFLNVMEL | ||||||
Topological domain | 225-433 | Cytoplasmic | ||||
Sequence: GHLGLKGIRSALKRPVEQPLGEIPEKSLHSIAVSSIQKAKGYQLLEEEKIVSHYFPLTEVGMVETSPLPAKPFNQFEEKISTGPLGDLSRGYQETLPSYAQVGAQEVEGEGPPAEEGAEPEVGEKKEEAERLTTEEQEKVAVPEGEKVETPGVDKEGEKEEPQSEKVSKQGLPAEKTPSLCPELTTDDARPLSRLSKASSRARSDDLTV |
Keywords
- Cellular component
Disease & Variants
Involvement in disease
Cataract 1, multiple types (CTRCT1)
- Note
- 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.
- See alsoMIM:116200
Natural variants in CTRCT1
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_038797 | 23 | R>T | in CTRCT1; nuclear progressive cataract; dbSNP:rs80358203 | |
VAR_084810 | 25 | W>R | in CTRCT1; uncertain significance; dbSNP:rs1114167309 | |
VAR_084811 | 39 | T>R | in CTRCT1; uncertain significance | |
VAR_038798 | 44 | V>E | in CTRCT1; cataract with microcornea; dbSNP:rs80358204 | |
VAR_084812 | 45 | W>S | in CTRCT1; uncertain significance; dbSNP:rs864309688 | |
VAR_084813 | 46 | G>R | in CTRCT1; uncertain significance; dbSNP:rs1553242554 | |
VAR_069579 | 47 | D>N | in CTRCT1; uncertain significance; abolishes localization to the plasma membrane and function; dbSNP:rs121434643 | |
VAR_038799 | 48 | E>K | in CTRCT1; zonular pulverulent; dbSNP:rs80358201 | |
VAR_037642 | 64 | V>G | in CTRCT1; zonular pulverulent and nuclear progressive cataract | |
VAR_070021 | 67 | D>G | in CTRCT1; dbSNP:rs2149015482 | |
VAR_084814 | 73 | S>F | in CTRCT1 | |
VAR_070022 | 76 | R>C | in CTRCT1; dbSNP:rs1553242577 | |
VAR_086591 | 88 | P>L | in CTRCT1; decreased gap junction channel activity; dbSNP:rs782199122 | |
VAR_086592 | 88 | P>Q | in CTRCT1; severely decreased gap junction channel activity; does not localize to the cell membrane; dbSNP:rs782199122 | |
VAR_002005 | 88 | P>S | in CTRCT1; zonular pulverulent; dbSNP:rs80358200 | |
VAR_084815 | 118 | A>E | in CTRCT1; uncertain significance; dbSNP:rs782306193 | |
VAR_084816 | 162 | E>K | in CTRCT1; uncertain significance; dbSNP:rs1114167310 | |
VAR_038800 | 198 | R>Q | in CTRCT1; cataract with microcornea; dbSNP:rs80358205 |
Features
Showing features for natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_038797 | 23 | in CTRCT1; nuclear progressive cataract; dbSNP:rs80358203 | |||
Sequence: R → T | ||||||
Natural variant | VAR_084810 | 25 | in CTRCT1; uncertain significance; dbSNP:rs1114167309 | |||
Sequence: W → R | ||||||
Natural variant | VAR_084811 | 39 | in CTRCT1; uncertain significance | |||
Sequence: T → R | ||||||
Natural variant | VAR_038798 | 44 | in CTRCT1; cataract with microcornea; dbSNP:rs80358204 | |||
Sequence: V → E | ||||||
Natural variant | VAR_084812 | 45 | in CTRCT1; uncertain significance; dbSNP:rs864309688 | |||
Sequence: W → S | ||||||
Natural variant | VAR_084813 | 46 | in CTRCT1; uncertain significance; dbSNP:rs1553242554 | |||
Sequence: G → R | ||||||
Natural variant | VAR_069579 | 47 | in CTRCT1; uncertain significance; abolishes localization to the plasma membrane and function; dbSNP:rs121434643 | |||
Sequence: D → N | ||||||
Natural variant | VAR_038799 | 48 | in CTRCT1; zonular pulverulent; dbSNP:rs80358201 | |||
Sequence: E → K | ||||||
Natural variant | VAR_037642 | 64 | in CTRCT1; zonular pulverulent and nuclear progressive cataract | |||
Sequence: V → G | ||||||
Natural variant | VAR_070021 | 67 | in CTRCT1; dbSNP:rs2149015482 | |||
Sequence: D → G | ||||||
Natural variant | VAR_084814 | 73 | in CTRCT1 | |||
Sequence: S → F | ||||||
Natural variant | VAR_070022 | 76 | in CTRCT1; dbSNP:rs1553242577 | |||
Sequence: R → C | ||||||
Natural variant | VAR_086591 | 88 | in CTRCT1; decreased gap junction channel activity; dbSNP:rs782199122 | |||
Sequence: P → L | ||||||
Natural variant | VAR_086592 | 88 | in CTRCT1; severely decreased gap junction channel activity; does not localize to the cell membrane; dbSNP:rs782199122 | |||
Sequence: P → Q | ||||||
Natural variant | VAR_002005 | 88 | in CTRCT1; zonular pulverulent; dbSNP:rs80358200 | |||
Sequence: P → S | ||||||
Natural variant | VAR_084815 | 118 | in CTRCT1; uncertain significance; dbSNP:rs782306193 | |||
Sequence: A → E | ||||||
Natural variant | VAR_084816 | 162 | in CTRCT1; uncertain significance; dbSNP:rs1114167310 | |||
Sequence: E → K | ||||||
Natural variant | VAR_038800 | 198 | in CTRCT1; cataract with microcornea; dbSNP:rs80358205 | |||
Sequence: R → Q | ||||||
Natural variant | VAR_038801 | 247 | does not affect gap junctions formation and gap junctional currents; dbSNP:rs80358202 | |||
Sequence: I → M |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 689 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Genetic variation databases
PTM/Processing
Features
Showing features for initiator methionine, chain, disulfide bond.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Initiator methionine | 1 | Removed | ||||
Sequence: M | ||||||
Chain | PRO_0000057830 | 2-433 | Gap junction alpha-8 protein | |||
Sequence: GDWSFLGNILEEVNEHSTVIGRVWLTVLFIFRILILGTAAEFVWGDEQSDFVCNTQQPGCENVCYDEAFPISHIRLWVLQIIFVSTPSLMYVGHAVHYVRMEEKRKSREAEELGQQAGTNGGPDQGSVKKSSGSKGTKKFRLEGTLLRTYICHIIFKTLFEVGFIVGHYFLYGFRILPLYRCSRWPCPNVVDCFVSRPTEKTIFILFMLSVASVSLFLNVMELGHLGLKGIRSALKRPVEQPLGEIPEKSLHSIAVSSIQKAKGYQLLEEEKIVSHYFPLTEVGMVETSPLPAKPFNQFEEKISTGPLGDLSRGYQETLPSYAQVGAQEVEGEGPPAEEGAEPEVGEKKEEAERLTTEEQEKVAVPEGEKVETPGVDKEGEKEEPQSEKVSKQGLPAEKTPSLCPELTTDDARPLSRLSKASSRARSDDLTV | ||||||
Disulfide bond | 54↔194 | |||||
Sequence: CNTQQPGCENVCYDEAFPISHIRLWVLQIIFVSTPSLMYVGHAVHYVRMEEKRKSREAEELGQQAGTNGGPDQGSVKKSSGSKGTKKFRLEGTLLRTYICHIIFKTLFEVGFIVGHYFLYGFRILPLYRCSRWPCPNVVDC | ||||||
Disulfide bond | 61↔188 | |||||
Sequence: CENVCYDEAFPISHIRLWVLQIIFVSTPSLMYVGHAVHYVRMEEKRKSREAEELGQQAGTNGGPDQGSVKKSSGSKGTKKFRLEGTLLRTYICHIIFKTLFEVGFIVGHYFLYGFRILPLYRCSRWPC | ||||||
Disulfide bond | 65↔183 | |||||
Sequence: CYDEAFPISHIRLWVLQIIFVSTPSLMYVGHAVHYVRMEEKRKSREAEELGQQAGTNGGPDQGSVKKSSGSKGTKKFRLEGTLLRTYICHIIFKTLFEVGFIVGHYFLYGFRILPLYRC |
Keywords
- PTM
Proteomic databases
PTM databases
Expression
Tissue specificity
Eye lens.
Gene expression databases
Organism-specific databases
Interaction
Subunit
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.
Binary interactions
Protein-protein interaction databases
Miscellaneous
Structure
Family & Domains
Features
Showing features for region, compositional bias.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Region | 110-137 | Disordered | ||||
Sequence: EAEELGQQAGTNGGPDQGSVKKSSGSKG | ||||||
Compositional bias | 119-134 | Polar residues | ||||
Sequence: GTNGGPDQGSVKKSSG | ||||||
Region | 329-433 | Disordered | ||||
Sequence: QEVEGEGPPAEEGAEPEVGEKKEEAERLTTEEQEKVAVPEGEKVETPGVDKEGEKEEPQSEKVSKQGLPAEKTPSLCPELTTDDARPLSRLSKASSRARSDDLTV | ||||||
Compositional bias | 342-390 | Basic and acidic residues | ||||
Sequence: AEPEVGEKKEEAERLTTEEQEKVAVPEGEKVETPGVDKEGEKEEPQSEK |
Sequence similarities
Belongs to the connexin family. Alpha-type (group II) subfamily.
Keywords
- Domain
Phylogenomic databases
Family and domain databases
Sequence
- Sequence statusComplete
- Length433
- Mass (Da)48,229
- Last updated2007-01-23 v3
- ChecksumD2BF6CD1C8768636
Features
Showing features for sequence conflict, compositional bias.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Sequence conflict | 110-111 | in Ref. 1; AAA77062 | ||||
Sequence: EA → D | ||||||
Compositional bias | 119-134 | Polar residues | ||||
Sequence: GTNGGPDQGSVKKSSG | ||||||
Compositional bias | 342-390 | Basic and acidic residues | ||||
Sequence: AEPEVGEKKEEAERLTTEEQEKVAVPEGEKVETPGVDKEGEKEEPQSEK |
Keywords
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
U34802 EMBL· GenBank· DDBJ | AAA77062.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF217524 EMBL· GenBank· DDBJ | AAF32309.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
EF672108 EMBL· GenBank· DDBJ | ABS11172.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AL445591 EMBL· GenBank· DDBJ | CAH72387.1 EMBL· GenBank· DDBJ | Genomic DNA |