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Details on Person UniProt:Q9HBA0 TRPV4

Class:Id	ReferenceGeneProduct:252774
_chainChangeLog	chain:1-871 added on Sat February 7 2015
_displayName	UniProt:Q9HBA0 TRPV4
_timestamp	2024-11-03 20:12:33
chain	chain:1-871
checksum	C62056B86C5A6FB6
comment	FUNCTION Non-selective calcium permeant cation channel involved in osmotic sensitivity and mechanosensitivity (PubMed:16293632, PubMed:18695040, PubMed:18826956, PubMed:22526352, PubMed:23136043, PubMed:29899501). Activation by exposure to hypotonicity within the physiological range exhibits an outward rectification (PubMed:18695040, PubMed:18826956, PubMed:29899501). Also activated by heat, low pH, citrate and phorbol esters (PubMed:16293632, PubMed:18695040, PubMed:18826956, PubMed:20037586, PubMed:21964574, PubMed:25256292). Increase of intracellular Ca(2+) potentiates currents. Channel activity seems to be regulated by a calmodulin-dependent mechanism with a negative feedback mechanism (PubMed:12724311, PubMed:18826956). Promotes cell-cell junction formation in skin keratinocytes and plays an important role in the formation and/or maintenance of functional intercellular barriers (By similarity). Acts as a regulator of intracellular Ca(2+) in synoviocytes (PubMed:19759329). Plays an obligatory role as a molecular component in the nonselective cation channel activation induced by 4-alpha-phorbol 12,13-didecanoate and hypotonic stimulation in synoviocytes and also regulates production of IL-8 (PubMed:19759329). Together with PKD2, forms mechano- and thermosensitive channels in cilium (PubMed:18695040). Negatively regulates expression of PPARGC1A, UCP1, oxidative metabolism and respiration in adipocytes (By similarity). Regulates expression of chemokines and cytokines related to pro-inflammatory pathway in adipocytes (By similarity). Together with AQP5, controls regulatory volume decrease in salivary epithelial cells (By similarity). Required for normal development and maintenance of bone and cartilage (PubMed:26249260). In its inactive state, may sequester DDX3X at the plasma membrane. When activated, the interaction between both proteins is affected and DDX3X relocalizes to the nucleus (PubMed:29899501). In neurons of the central nervous system, could play a role in triggering voluntary water intake in response to increased sodium concentration in body fluid (By similarity).FUNCTION Non-selective calcium permeant cation channel involved in osmotic sensitivity and mechanosensitivity. Activation by exposure to hypotonicity within the physiological range exhibits an outward rectification. Also activated by phorbol esters. Has the same channel activity as isoform 1, and is activated by the same stimuli.FUNCTION Non-selective calcium permeant cation channel involved in osmotic sensitivity and mechanosensitivity. Activation by exposure to hypotonicity within the physiological range exhibits an outward rectification. Also activated by phorbol esters. Has the same channel activity as isoform 1, and is activated by the same stimuli.FUNCTION Lacks channel activity, due to impaired oligomerization and intracellular retention.FUNCTION Lacks channel activity, due to impaired oligomerization and intracellular retention.FUNCTION Lacks channel activity, due to impaired oligomerization and intracellular retention.FUNCTION (Microbial infection) Facilitates hepatitis C virus (HCV) replication, possibly through its action on DDX3X.FUNCTION (Microbial infection) Facilitates Dengue virus (DENV) replication, possibly through its action on DDX3X.FUNCTION (Microbial infection) Facilitates Zika virus (ZIKV) replication, possibly through its action on DDX3X.CATALYTIC ACTIVITY Ca(2+)(in) = Ca(2+)(out)CATALYTIC ACTIVITY Ca(2+)(in) = Ca(2+)(out)CATALYTIC ACTIVITY Ca(2+)(in) = Ca(2+)(out)ACTIVITY REGULATION Channel activation is inhibited by binding to phosphatidylinositol-4,5-bisphosphate, and to a much lesser degree by phosphatidylinositol-3,4,5-trisphosphate. Not inhibited by phosphatidylinositol-3,4-bisphosphate and phosphatidylinositol-3,5-bisphosphate.SUBUNIT Homotetramer (Probable). Self-associates in an isoform-specific manner (PubMed:16293632). Isoform 1 and isoform 5 can oligomerize, but isoform 2, isoform 4 and isoform 6 cannot oligomerize (PubMed:16293632). Interacts with calmodulin (PubMed:12724311). Interacts with Map7 and Src family Tyr protein kinases LYN, SRC, FYN, HCK, LCK and YES (By similarity). Interacts with CTNNB1 (By similarity). The TRPV4 and CTNNB1 complex can interact with CDH1 (By similarity). Interacts with PACSIN1, PACSIN2 and PACSIN3 (via SH3 domain) (By similarity). Part of a complex containing MLC1, AQP4, HEPACAM and ATP1B1 (PubMed:22328087). Interacts with ITPR3 (PubMed:18826956). Interacts with AQP5; the interaction is probably indirect and regulates TRPV4 activation by hypotonicity (By similarity). Interacts with ANO1 (By similarity). Interacts (via C-terminus) with PKD2 (via C-terminus) (PubMed:18695040). Interacts with DDX3X; this interaction is decreased when the channel is activated (PubMed:29899501).INTERACTION Assembly of the putative homotetramer occurs primarily in the endoplasmic reticulum (PubMed:16293632, PubMed:20037587, PubMed:20037588). Localization to the cell membrane is inhibited by WNK kinases (WNK1, WNK2, WNK3 or WNK4) in a kinase-independent mechanism (PubMed:16403833).SUBCELLULAR LOCATION Found in the synoviocytes from patients with (RA) and without (CTR) rheumatoid arthritis (at protein level).DOMAIN The ANK repeat region mediates interaction with Ca(2+)-calmodulin and ATP binding (By similarity). The ANK repeat region mediates interaction with phosphatidylinositol-4,5-bisphosphate and related phosphatidylinositides (PubMed:25256292).PTM N-glycosylated.POLYMORPHISM Genetic variations in TRPV4 determine the sodium serum level quantitative trait locus 1 (SSQTL1) [MIM:613508]. In some populations, variant Pro19Ser has been shown to be significantly associated with hyponatremia defined as serum sodium concentration below or equal to 135 mEq/L.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.MISCELLANEOUS Lacks channel activity, due to impaired oligomerization and intracellular retention.MISCELLANEOUS Lacks channel activity, due to impaired oligomerization and intracellular retention.MISCELLANEOUS Forms active ion channels.MISCELLANEOUS Lacks channel activity, due to impaired oligomerization and intracellular retention.SIMILARITY Belongs to the transient receptor (TC 1.A.4) family. TrpV subfamily. TRPV4 sub-subfamily.
created	[InstanceEdit:217385] Schmidt, EE, 2008-03-27 06:23:53
description	recommendedName: Transient receptor potential cation channel subfamily V member 4 shortName: TrpV4 alternativeName: Osm-9-like TRP channel 4 shortName evidence="33"OTRPC4 alternativeName: Transient receptor potential protein 12 shortName: TRP12 alternativeName: Vanilloid receptor-like channel 2 alternativeName: Vanilloid receptor-like protein 2 shortName: VRL-2 alternativeName: fullName evidence="34"Vanilloid receptor-related osmotically-activated channel shortName evidence="34"VR-OAC
geneName	TRPV4 VRL2 VROAC
identifier	Q9HBA0
isSequenceChanged	FALSE
keyword	3D-structure Alternative splicing ANK repeat ATP-binding Calcium Calcium channel Calcium transport Calmodulin-binding Cell junction Cell membrane Cell projection Charcot-Marie-Tooth disease Cilium Disease variant Dwarfism Endoplasmic reticulum Ion channel Ion transport Lipid-binding Membrane Metal-binding Neurodegeneration Neuropathy Nucleotide-binding Phosphoprotein Proteomics identification Reference proteome Repeat Transmembrane Transmembrane helix Transport
modified	[InstanceEdit:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9909836] Weiser, Joel, 2024-05-14 [InstanceEdit:9917590] Weiser, Joel, 2024-08-09 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03
name	TRPV4
referenceDatabase	[ReferenceDatabase:2] UniProt
referenceGene	[ReferenceDNASequence:8998066] ENSEMBL:ENSG00000111199 TRPV4 [Homo sapiens]
secondaryIdentifier	TRPV4_HUMAN B7ZKQ6 Q17R79 Q2Y122 Q2Y123 Q2Y124 Q86YZ6 Q8NDY7 Q8NG64 Q96Q92 Q96RS7 Q9HBC0
sequenceLength	871
species	[Species:48887] Homo sapiens
(isoformParent)	[ReferenceIsoform:252775] UniProt:Q9HBA0-2 TRPV4 [Homo sapiens] [ReferenceIsoform:252776] UniProt:Q9HBA0-3 TRPV4 [Homo sapiens] [ReferenceIsoform:252777] UniProt:Q9HBA0-4 TRPV4 [Homo sapiens] [ReferenceIsoform:252778] UniProt:Q9HBA0-5 TRPV4 [Homo sapiens] [ReferenceIsoform:252779] UniProt:Q9HBA0-6 TRPV4 [Homo sapiens] [ReferenceIsoform:414387] UniProt:Q9HBA0-1 TRPV4 [Homo sapiens]
(referenceEntity)	[EntityWithAccessionedSequence:1297261] TRPV4 [plasma membrane] [Homo sapiens]
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No pathways have been reviewed or authored by UniProt:Q9HBA0 TRPV4 (252774)