GJA1 / TRP channels
Name: Gap junction alpha-1 protein
(GJA1)
Official Symbol: GJA1
provided by HGNC
Function:
Gap junction protein that acts as a regulator of bladder capacity. A 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. May play a critical role in the physiology of hearing by participating in the recycling of potassium to the cochlear endolymph. Negative regulator of bladder functional capacity: acts by enhancing intercellular electrical and chemical transmission, thus sensitizing bladder muscles to cholinergic neural stimuli and causing them to contract (By similarity).
Source: Reorganizing the protein space at the Universal Protein Resource (UniProt)
Nucleic Acids Res. 40: D71-D75 (2012).
Species | External DB | |||||||||
---|---|---|---|---|---|---|---|---|---|---|
Entrez Gene | UniprotKB | DIP | IntAct | MINT | BioGRID | STRING | IUPHAR-DB | KEGG | OMIM | |
Human
|
2697 | P17302 | DIP-36790N | P17302 | MINT-147603 | 108964 | P17302 | hsa:2697 | 121014 | |
Mouse
|
14609 | P23242 | DIP-29207N | P23242 | MINT-1326689 | 199923 | P23242 | mmu:14609 | ||
Rat
|
24392 | P08050 | DIP-34793N | P08050 | MINT-1791096 | 246562 | P08050 | rno:24392 |
PPI pairs:
Biological Process:
- GO:0007512 : adult heart development
- GO:0006915 : apoptotic process
- GO:0015867 : ATP transport
- GO:0048514 : blood vessel morphogenesis
- GO:0007267 : cell-cell signaling
- GO:0016044 : cellular membrane organization
- GO:0002070 : epithelial cell maturation
- GO:0016264 : gap junction assembly
- GO:0007507 : heart development
- GO:0001947 : heart looping
- GO:0001701 : in utero embryonic development
- GO:0060174 : limb bud formation
- GO:0006936 : muscle contraction
- GO:0008285 : negative regulation of cell proliferation
- GO:0010629 : negative regulation of gene expression
- GO:0001764 : neuron migration
- GO:0048812 : neuron projection morphogenesis
- GO:0010628 : positive regulation of gene expression
- GO:0043123 : positive regulation of I-kappaB kinase/NF-kappaB cascade
- GO:0045732 : positive regulation of protein catabolic process
- GO:0045844 : positive regulation of striated muscle tissue development
- GO:0051259 : protein oligomerization
- GO:0051924 : regulation of calcium ion transport
- GO:0008016 : regulation of heart contraction
- GO:0043434 : response to peptide hormone stimulus
- GO:0009268 : response to pH
- GO:0043403 : skeletal muscle tissue regeneration
- GO:0010232 : vascular transport
Source: The Gene Ontology Consortium. Gene ontology: tool for the unification of biology. Nat. Genet.. May 2000;25(1):25-9.
World Wide Web URL: http://www.geneontology.org/
World Wide Web URL: http://www.geneontology.org/
Disease:
- OMIM:121014 : Oculodentodigital dysplasia (OMIM:164200 )
- OMIM:121014 : Syndactyly, type III (OMIM:186100 )
- OMIM:121014 : Hypoplastic left heart syndrome 1 (OMIM:241550 )
- OMIM:121014 : Atrioventricular septal defect 3 (OMIM:600309 )
- OMIM:121014 : Oculodentodigital dysplasia, autosomal recessive (OMIM:257850 )
- OMIM:121014 : Hallermann-Streiff syndrome (OMIM:234100 )
Source: Online Mendelian Inheritance in Man, OMIM®. McKusick-Nathans Institute of Genetic Medicine,
Johns Hopkins University (Baltimore, MD), May, 2012.
World Wide Web URL: http://omim.org/
World Wide Web URL: http://omim.org/
Screening Validation: In vitro validation Validation: In vivo validation Characterization Functional consequence | top |
Screening | ||||||||||
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Experimental screening | Non-experimental screening | Reference | ||||||||
TRP channel construct | Interactor source | |||||||||
TRP channel | Interactor | Method | Species | Region | Species | Organ/tissue | Sample type | |||
TRPC4 | GJA1 | Inference | Prediction | 15540229 |
(:
click the arrow icon to show interactions only between the corresponding TRP channel and the interactor)
Screening Validation: In vitro validation Validation: In vivo validation Characterization Functional consequence | top |
Validation: In vivo validation | ||||||||||
---|---|---|---|---|---|---|---|---|---|---|
Assay with endogenous proteins | Assay with overexpressed proteins | Reference | ||||||||
Cell or tissue | Cell or tissue | TRP channel construct | Interactor construct | |||||||
TRP channel | Interactor | Method | Species | Region | Species | Region | ||||
TRPC4 | GJA1 | Co-immunofluorescence staining | Human fetal brain astrocytes | 15540229 | ||||||
TRPC4 | GJA1 | Co-immunoprecipitation | Human fetal brain astrocytes | 15540229 |
(:
click the arrow icon to show interactions only between the corresponding TRP channel and the interactor)