O75712 · CXB3_HUMAN
- ProteinGap junction beta-3 protein
- GeneGJB3
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids270 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
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 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 | |||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Aspect | Term | |
---|---|---|
Cellular Component | cell junction | |
Cellular Component | connexin complex | |
Cellular Component | cytoplasm | |
Cellular Component | gap junction | |
Cellular Component | intracellular membrane-bounded organelle | |
Molecular Function | gap junction channel activity | |
Biological Process | cell-cell signaling | |
Biological Process | cellular response to retinoic acid | |
Biological Process | in utero embryonic development | |
Biological Process | placenta development | |
Biological Process | skin development | |
Biological Process | spermatogenesis |
Enzyme and pathway databases
Protein family/group databases
Names & Taxonomy
Protein names
- Recommended nameGap junction beta-3 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 accessionO75712
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
UniProt Annotation
GO Annotation
Cell membrane ; Multi-pass membrane protein
Features
Showing features for topological domain, transmembrane.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Topological domain | 1-20 | Cytoplasmic | ||||
Sequence: MDWKTLQALLSGVNKYSTAF | ||||||
Transmembrane | 21-40 | Helical | ||||
Sequence: GRIWLSVVFVFRVLVYVVAA | ||||||
Topological domain | 41-75 | Extracellular | ||||
Sequence: ERVWGDEQKDFDCNTKQPGCTNVCYDNYFPISNIR | ||||||
Transmembrane | 76-98 | Helical | ||||
Sequence: LWALQLIFVTCPSLLVILHVAYR | ||||||
Topological domain | 99-126 | Cytoplasmic | ||||
Sequence: EERERRHRQKHGDQCAKLYDNAGKKHGG | ||||||
Transmembrane | 127-149 | Helical | ||||
Sequence: LWWTYLFSLIFKLIIEFLFLYLL | ||||||
Topological domain | 150-187 | Extracellular | ||||
Sequence: HTLWHGFNMPRLVQCANVAPCPNIVDCYIARPTEKKIF | ||||||
Transmembrane | 188-210 | Helical | ||||
Sequence: TYFMVGASAVCIVLTICELCYLI | ||||||
Topological domain | 211-270 | Cytoplasmic | ||||
Sequence: CHRVLRGLHKDKPRGGCSPSSSASRASTCRCHHKLVEAGEVDPDPGNNKLQASAPNLTPI |
Keywords
- Cellular component
Disease & Variants
Involvement in disease
Erythrokeratodermia variabilis et progressiva 1 (EKVP1)
- Note
- DescriptionA form of erythrokeratodermia variabilis et progressiva, a genodermatosis characterized by the coexistence of two independent skin lesions: transient erythema and hyperkeratosis that is usually localized but occasionally occurs in its generalized form. Clinical presentation varies significantly within a family and from one family to another. Palmoplantar keratoderma is present in around 50% of cases.
- See alsoMIM:133200
Natural variants in EKVP1
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_002147 | 12 | G>D | in EKVP1; dbSNP:rs74315316 | |
VAR_002148 | 12 | G>R | in EKVP1; dbSNP:rs74315315 | |
VAR_015085 | 42 | R>P | in EKVP1; dbSNP:rs74315321 | |
VAR_002149 | 86 | C>S | in EKVP1; dbSNP:rs74315317 | |
VAR_015086 | 137 | F>L | in EKVP1 |
Deafness, autosomal dominant, 2B (DFNA2B)
- Note
- DescriptionA form of non-syndromic sensorineural deafness characterized by progressive high frequency hearing loss in adulthood, with milder expression in females.
- See alsoMIM:612644
Natural variants in DFNA2B
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_015087 | 141 | I>V | in DFNA2B; dbSNP:rs74315320 | |
VAR_002150 | 183 | E>K | in DFNA2B; uncertain significance; dbSNP:rs74315318 |
Features
Showing features for natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_002147 | 12 | in EKVP1; dbSNP:rs74315316 | |||
Sequence: G → D | ||||||
Natural variant | VAR_002148 | 12 | in EKVP1; dbSNP:rs74315315 | |||
Sequence: G → R | ||||||
Natural variant | VAR_011978 | 32 | in dbSNP:rs1805063 | |||
Sequence: R → W | ||||||
Natural variant | VAR_015085 | 42 | in EKVP1; dbSNP:rs74315321 | |||
Sequence: R → P | ||||||
Natural variant | VAR_002149 | 86 | in EKVP1; dbSNP:rs74315317 | |||
Sequence: C → S | ||||||
Natural variant | VAR_015086 | 137 | in EKVP1 | |||
Sequence: F → L | ||||||
Natural variant | VAR_015087 | 141 | in DFNA2B; dbSNP:rs74315320 | |||
Sequence: I → V | ||||||
Natural variant | VAR_002150 | 183 | in DFNA2B; uncertain significance; dbSNP:rs74315318 | |||
Sequence: E → K | ||||||
Natural variant | VAR_022423 | 200 | in dbSNP:rs61734064 | |||
Sequence: V → I |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 401 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 chain, modified residue (large scale data).
Type | ID | Position(s) | Source | Description | |||
---|---|---|---|---|---|---|---|
Chain | PRO_0000057862 | 1-270 | UniProt | Gap junction beta-3 protein | |||
Sequence: MDWKTLQALLSGVNKYSTAFGRIWLSVVFVFRVLVYVVAAERVWGDEQKDFDCNTKQPGCTNVCYDNYFPISNIRLWALQLIFVTCPSLLVILHVAYREERERRHRQKHGDQCAKLYDNAGKKHGGLWWTYLFSLIFKLIIEFLFLYLLHTLWHGFNMPRLVQCANVAPCPNIVDCYIARPTEKKIFTYFMVGASAVCIVLTICELCYLICHRVLRGLHKDKPRGGCSPSSSASRASTCRCHHKLVEAGEVDPDPGNNKLQASAPNLTPI | |||||||
Modified residue (large scale data) | 263 | PRIDE | Phosphoserine | ||||
Sequence: S |
Proteomic databases
PTM databases
Expression
Interaction
Subunit
A connexon is composed of a hexamer of connexins. Interacts with CNST (By similarity).
Binary interactions
Type | Entry 1 | Entry 2 | Number of experiments | Intact | |
---|---|---|---|---|---|
BINARY | O75712 | BTN2A2 Q8WVV5 | 3 | EBI-3908586, EBI-8648738 | |
BINARY | O75712 | COMT P21964 | 3 | EBI-3908586, EBI-372265 | |
BINARY | O75712 | GIMAP5 Q96F15 | 3 | EBI-3908586, EBI-6166686 | |
BINARY | O75712 | IGFBP5 P24593 | 3 | EBI-3908586, EBI-720480 | |
BINARY | O75712 | LAT O43561-2 | 3 | EBI-3908586, EBI-8070286 | |
BINARY | O75712 | LHFPL5 Q8TAF8 | 3 | EBI-3908586, EBI-2820517 | |
BINARY | O75712 | MFSD11 O43934 | 3 | EBI-3908586, EBI-17633886 | |
BINARY | O75712 | PCYOX1 Q9UHG3 | 2 | EBI-3908586, EBI-2908417 | |
BINARY | O75712 | RPRM Q9NS64 | 3 | EBI-3908586, EBI-1052363 | |
BINARY | O75712 | SERP1 Q9Y6X1 | 3 | EBI-3908586, EBI-10329948 | |
BINARY | O75712 | TMEM97 Q5BJF2 | 3 | EBI-3908586, EBI-12111910 | |
BINARY | O75712 | TMUB2 Q71RG4 | 3 | EBI-3908586, EBI-2820477 | |
BINARY | O75712 | TUSC5 A5PKU2 | 3 | EBI-3908586, EBI-11988865 |
Protein-protein interaction databases
Miscellaneous
Structure
Family & Domains
Features
Showing features for region.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Region | 250-270 | Disordered | ||||
Sequence: EVDPDPGNNKLQASAPNLTPI |
Sequence similarities
Belongs to the connexin family. Beta-type (group I) subfamily.
Keywords
- Domain
Phylogenomic databases
Family and domain databases
Sequence
- Sequence statusComplete
- Length270
- Mass (Da)30,818
- Last updated1998-11-01 v1
- ChecksumE46D36E5835646A4
Keywords
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
AJ004856 EMBL· GenBank· DDBJ | CAA06165.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF052692 EMBL· GenBank· DDBJ | AAD11816.1 EMBL· GenBank· DDBJ | mRNA | ||
AF099730 EMBL· GenBank· DDBJ | AAC95471.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AK312890 EMBL· GenBank· DDBJ | BAG35737.1 EMBL· GenBank· DDBJ | mRNA | ||
AL121988 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
CH471059 EMBL· GenBank· DDBJ | EAX07442.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
BC012918 EMBL· GenBank· DDBJ | AAH12918.1 EMBL· GenBank· DDBJ | mRNA | ||
BC110640 EMBL· GenBank· DDBJ | AAI10641.1 EMBL· GenBank· DDBJ | mRNA |