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)
:
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
|
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|---|---|---|---|---|---|---|---|---|---|---|
| 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)
:
click the arrow icon to show interactions only between the corresponding TRP channel and the interactor)







Screening