EFHC1 / TRP channels
Name: EF-hand domain-containing protein 1
(EFHC1)
Official Symbol: EFHC1
provided by HGNC
Function:
May enhance calcium influx through CACNA1E and stimulate programmed cell death.
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
|
114327 |
Q5JVL4 |
Q5JVL4 |
MINT-1484267 |
125313 |
Q5JVL4 |
hsa:114327 |
608815 |
||
Mouse
|
71877 |
Q9D9T8 |
215000 |
Q9D9T8 |
mmu:71877 |
|||||
| Rat | 301295 |
256914 |
rno:301295 |
|||||||
PPI pairs:
Biological Process:
No information in Gene Ontology
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:608815
:
Myoclonic epilepsy, juvenile, susceptibility to, 1
(OMIM:254770
)
- OMIM:608815
:
Epilepsy, juvenile absence, susceptibility to, 1
(OMIM:607631
)
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
|
||||||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Experimental screening | Non-experimental screening | Reference | ||||||||
| TRP channel construct | Interactor source | |||||||||
| TRP channel | Interactor | Method | Species | Region | Species | Organ/tissue | Sample type | |||
| TRPM2 |
|
EFHC1 | Inference | Prediction | 22226147 | |||||
(
:
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
|
||||||||||
|---|---|---|---|---|---|---|---|---|---|---|
| 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 | ||||
| TRPM2 |
|
EFHC1 | Co-immunofluorescence staining | HEK293 | Human | Full-length | Mouse | 319-1376 | 22226147 | |
| TRPM2 |
|
EFHC1 | Co-immunoprecipitation | Mouse brain microsome extracts | 22226147 | |||||
| TRPM2 |
|
EFHC1 | Co-immunoprecipitation | HEK293 | Human | Full-length | Mouse | 319-1376 | 22226147 | |
(
:
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
|
Characterization
|
||||||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Binding region mapping | Stoichiometry | Affinity (Kd) | Reference | |||||||
| TRP channel | Interactor | |||||||||
| TRP channel | Interactor | Method | Species | Region | Species | Region | ||||
| TRPM2 |
|
EFHC1 | Co-immunoprecipitation | Human | 1-2214 | Mouse | Not determined | 22226147 | ||
| TRPM2 |
|
EFHC1 | Co-immunoprecipitation | Human | 3169-4509 | Mouse | Not determined | 22226147 | ||
(
:
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
|
Functional consequence
|
||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| TRP channel | Interactor | Method | Post-translational modification | Subcellular trafficking | Activity | Reference | ||||||
| TRPM2 |
|
EFHC1 | Patch clamp | Activation | 22226147 | |||||||
(
:
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