[1]
|
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
DOI=10.1016/S0092-8674(00)00143-4; PubMed=11081638 [NCBI, ExPASy, EBI, Israel, Japan]
Liedtke W.B.,
Choe Y.,
Marti-Renom M.A.,
Bell A.M.,
Denis C.S.,
Sali A.,
Hudspeth A.J.,
Friedman J.M.,
Heller S.;
"Vanilloid receptor-related osmotically activated channel (VR-OAC), a candidate vertebrate osmoreceptor.";
Cell 103:525-535(2000).
|
[2]
|
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND FUNCTION.
TISSUE=Kidney cortex;
DOI=10.1038/35036318; PubMed=11025659 [NCBI, ExPASy, EBI, Israel, Japan]
Strotmann R.,
Harteneck C.,
Nunnenmacher K.,
Schultz G.,
Plant T.D.;
"OTRPC4, a nonselective cation channel that confers sensitivity to extracellular osmolarity.";
Nat. Cell Biol. 2:695-702(2000).
|
[3]
|
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3).
DOI=10.1074/jbc.M302561200; PubMed=12692122 [NCBI, ExPASy, EBI, Israel, Japan]
Suzuki M.,
Mizuno A.,
Kodaira K.,
Imai M.;
"Impaired pressure sensation in mice lacking TRPV4.";
J. Biol. Chem. 278:22664-22668(2003).
|
[4]
|
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
Ishibashi K.;
"Molecular cloning of a new member of vanilloid receptor channel-like proteins.";
Submitted (SEP-1999) to the EMBL/GenBank/DDBJ databases.
|
[5]
|
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
Kelsell R.E.;
Submitted (NOV-2000) to the EMBL/GenBank/DDBJ databases.
|
[6]
|
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
TISSUE=Aortic endothelium;
Xu F.,
Satoh E.,
Iijima T.;
Submitted (OCT-2001) to the EMBL/GenBank/DDBJ databases.
|
[7]
|
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 4; 5 AND 6), SUBCELLULAR LOCATION, AND SELF-ASSOCIATION.
DOI=10.1074/jbc.M511456200; PubMed=16293632 [NCBI, ExPASy, EBI, Israel, Japan]
Arniges M.,
Fernandez-Fernandez J.M.,
Albrecht N.,
Schaefer M.,
Valverde M.A.;
"Human TRPV4 channel splice variants revealed a key role of ankyrin domains in multimerization and trafficking.";
J. Biol. Chem. 281:1580-1586(2006).
|
[8]
|
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
TISSUE=Colon;
DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan]
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
|
[9]
|
NUCLEOTIDE SEQUENCE [MRNA] OF 69-871.
Derst C.,
Schafer M.K.;
"Cloning of mouse and human vanilloid receptor-like protein 2 (VRL-2).";
Submitted (JUN-2000) to the EMBL/GenBank/DDBJ databases.
|
[10]
|
FUNCTION, INTERACTION WITH CALMODULIN, AND MUTAGENESIS OF 186-ARG--SER-824 AND ARG-828.
DOI=10.1074/jbc.M302590200; PubMed=12724311 [NCBI, ExPASy, EBI, Israel, Japan]
Strotmann R.,
Schultz G.,
Plant T.D.;
"Ca2+-dependent potentiation of the nonselective cation channel TRPV4 is mediated by a C-terminal calmodulin binding site.";
J. Biol. Chem. 278:26541-26549(2003).
|
[11]
|
VARIANTS BRACHYOLMNA TYPE 3 GLN-616 AND ILE-620, AND CHARACTERIZATION OF VARIANTS BRACHYOLMIA TYPE 3 GLN-616 AND ILE-620.
DOI=10.1038/ng.166; PubMed=18587396 [NCBI, ExPASy, EBI, Israel, Japan]
Rock M.J.,
Prenen J.,
Funari V.A.,
Funari T.L.,
Merriman B.,
Nelson S.F.,
Lachman R.S.,
Wilcox W.R.,
Reyno S.,
Quadrelli R.,
Vaglio A.,
Owsianik G.,
Janssens A.,
Voets T.,
Ikegawa S.,
Nagai T.,
Rimoin D.L.,
Nilius B.,
Cohn D.H.;
"Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia.";
Nat. Genet. 40:999-1003(2008).
|
|
- FUNCTION: Non-selective calcium permeant cation channel probably involved in osmotic sensitivity and mechanosensitivity. Activation by exposure to hypotonicity within the physiological range exhibits an outward rectification. Also activated by low pH, citrate and phorbol esters. Increase of intracellular Ca(2+) potentiates currents. Channel activity seems to be regulated by a calmodulin-dependent mechanism with a negative feedback mechanism.
- SUBUNIT: Homotetramer (Probable). Self-associates in a isoform-specific manner. Isoforms 1/A and 5/D but not isoform 2/B, 4/C and 6/E can oligomerize. Interacts with calmodulin. Interacts with Map7 and Src family Tyr protein kinases LYN, SRC, FYN, HCK, LCK and YES (By similarity).
- INTERACTION:
Self; NbExp=1; IntAct=EBI-962786, EBI-962786;
Q9HBA0-1:-; NbExp=1; IntAct=EBI-1514303, EBI-961969;
- SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein (Probable). Note=Assembly of the putative homotetramer occurs primarily in the endoplasmic reticulum.
- SUBCELLULAR LOCATION: Isoform 1: Cell membrane.
- SUBCELLULAR LOCATION: Isoform 5: Cell membrane.
- ALTERNATIVE PRODUCTS:
6 named isoforms [FASTA] produced by alternative splicing.
|
| Name | 2 |
| Synonyms | B, OTRPC4beta |
| Isoform ID | Q9HBA0-2 |
| Features which should be applied to build the isoform sequence: VSP_013436. |
|
|
| Name | 3 |
| Synonyms | TRPV-SV |
| Isoform ID | Q9HBA0-3 |
| Features which should be applied to build the isoform sequence: VSP_013437. |
|
|
| Name | 4 |
| Synonyms | C |
| Isoform ID | Q9HBA0-4 |
| Features which should be applied to build the isoform sequence: VSP_026615. |
|
|
| Name | 5 |
| Synonyms | D |
| Isoform ID | Q9HBA0-5 |
| Features which should be applied to build the isoform sequence: VSP_026614. |
|
| |
- DISEASE: Defects in TRPV4 are the cause of brachyolmia type 3 [MIM:113500]; also called brachyrachia. The brachyolmias constitute a clinically and genetically heterogeneous group of skeletal dysplasias characterized by a short trunk, scoliosis and mild short stature. Type 3 brachyolmia is an autosomal dominant form with severe kyphoscoliosis and flattened, irregular cervical vertebrae.
- SIMILARITY: Belongs to the transient receptor family. TrpV subfamily.
- SIMILARITY: Contains 3 ANK repeats.
|
ExPASy Home page
CBR Canada
