TRPV4 (англ. Transient receptor potential cation channel subfamily V member 4) – білок, який кодується однойменним геном, розташованим у людей на короткому плечі 12-ї хромосоми. Довжина поліпептидного ланцюга білка становить 871 амінокислот, а молекулярна маса — 98 281.
TRPV4 | |||||||||||||||||
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Ідентифікатори | |||||||||||||||||
Символи | TRPV4, BCYM3, CMT2C, HMSN2C, OTRPC4, SMAL, SPSMA, SSQTL1, TRP12, VRL2, VROAC, transient receptor potential cation channel subfamily V member 4 | ||||||||||||||||
Зовнішні ІД | OMIM: 605427 MGI: 1926945 HomoloGene: 11003 GeneCards: TRPV4 | ||||||||||||||||
Пов'язані генетичні захворювання | |||||||||||||||||
spondylometaphyseal dysplasia, Kozlowski type, metatropic dysplasia, Charcot-Marie-Tooth disease axonal type 2C, spondyloepiphyseal dysplasia, Maroteaux type, parastremmatic dwarfism, familial digital arthropathy-brachydactyly, neuromuscular disease, scapuloperoneal spinal muscular atrophy, autosomal dominant congenital benign spinal muscular atrophy | |||||||||||||||||
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Шаблон експресії | |||||||||||||||||
Більше даних | |||||||||||||||||
Ортологи | |||||||||||||||||
Види | Людина | Миша | |||||||||||||||
Entrez |
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Ensembl |
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UniProt |
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RefSeq (мРНК) |
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RefSeq (білок) |
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Локус (UCSC) | Хр. 12: 109.78 – 109.83 Mb | Хр. 5: 114.76 – 114.8 Mb | |||||||||||||||
PubMed search | |||||||||||||||||
Вікідані | |||||||||||||||||
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10 | 20 | 30 | 40 | 50 | ||||
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MADSSEGPRA | GPGEVAELPG | DESGTPGGEA | FPLSSLANLF | EGEDGSLSPS | ||||
PADASRPAGP | GDGRPNLRMK | FQGAFRKGVP | NPIDLLESTL | YESSVVPGPK | ||||
KAPMDSLFDY | GTYRHHSSDN | KRWRKKIIEK | QPQSPKAPAP | QPPPILKVFN | ||||
RPILFDIVSR | GSTADLDGLL | PFLLTHKKRL | TDEEFREPST | GKTCLPKALL | ||||
NLSNGRNDTI | PVLLDIAERT | GNMREFINSP | FRDIYYRGQT | ALHIAIERRC | ||||
KHYVELLVAQ | GADVHAQARG | RFFQPKDEGG | YFYFGELPLS | LAACTNQPHI | ||||
VNYLTENPHK | KADMRRQDSR | GNTVLHALVA | IADNTRENTK | FVTKMYDLLL | ||||
LKCARLFPDS | NLEAVLNNDG | LSPLMMAAKT | GKIGIFQHII | RREVTDEDTR | ||||
HLSRKFKDWA | YGPVYSSLYD | LSSLDTCGEE | ASVLEILVYN | SKIENRHEML | ||||
AVEPINELLR | DKWRKFGAVS | FYINVVSYLC | AMVIFTLTAY | YQPLEGTPPY | ||||
PYRTTVDYLR | LAGEVITLFT | GVLFFFTNIK | DLFMKKCPGV | NSLFIDGSFQ | ||||
LLYFIYSVLV | IVSAALYLAG | IEAYLAVMVF | ALVLGWMNAL | YFTRGLKLTG | ||||
TYSIMIQKIL | FKDLFRFLLV | YLLFMIGYAS | ALVSLLNPCA | NMKVCNEDQT | ||||
NCTVPTYPSC | RDSETFSTFL | LDLFKLTIGM | GDLEMLSSTK | YPVVFIILLV | ||||
TYIILTFVLL | LNMLIALMGE | TVGQVSKESK | HIWKLQWATT | ILDIERSFPV | ||||
FLRKAFRSGE | MVTVGKSSDG | TPDRRWCFRV | DEVNWSHWNQ | NLGIINEDPG | ||||
KNETYQYYGF | SHTVGRLRRD | RWSSVVPRVV | ELNKNSNPDE | VVVPLDSMGN | ||||
PRCDGHQQGY | PRKWRTDDAP | L |
Кодований геном білок за функцією належить до іонних каналів. Задіяний у таких біологічних процесах як транспорт іонів, транспорт, транспорт кальцію. Білок має сайт для зв'язування з АТФ, нуклеотидами, молекулою кальмодуліну, іоном кальцію. Локалізований у клітинній мембрані, мембрані, клітинних контактах, клітинних відростках, війках.
Література
- Strotmann R., Harteneck C., Nunnenmacher K., Schultz G., Plant T.D. (2000). OTRPC4, a nonselective cation channel that confers sensitivity to extracellular osmolarity. Nat. Cell Biol. 2: 695—702. PMID 11025659 DOI:10.1038/35036318
- Suzuki M., Mizuno A., Kodaira K., Imai M. (2003). Impaired pressure sensation in mice lacking TRPV4. J. Biol. Chem. 278: 22664—22668. PMID 12692122 DOI:10.1074/jbc.M302561200
- Arniges M., Fernandez-Fernandez J.M., Albrecht N., Schaefer M., Valverde M.A. (2006). Human TRPV4 channel splice variants revealed a key role of ankyrin domains in multimerization and trafficking. J. Biol. Chem. 281: 1580—1586. PMID 16293632 DOI:10.1074/jbc.M511456200
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 14: 2121—2127. 2004. PMID 15489334 DOI:10.1101/gr.2596504
- Strotmann R., Schultz G., Plant T.D. (2003). Ca2+-dependent potentiation of the nonselective cation channel TRPV4 is mediated by a C-terminal calmodulin binding site. J. Biol. Chem. 278: 26541—26549. PMID 12724311 DOI:10.1074/jbc.M302590200
- Garcia-Elias A., Lorenzo I.M., Vicente R., Valverde M.A. (2008). IP3 receptor binds to and sensitizes TRPV4 channel to osmotic stimuli via a calmodulin-binding site. J. Biol. Chem. 283: 31284—31288. PMID 18826956 DOI:10.1074/jbc.C800184200
Примітки
- Захворювання, генетично пов'язані з TRPV4 переглянути/редагувати посилання на ВікіДаних.
- Human PubMed Reference:.
- Mouse PubMed Reference:.
- HUGO Gene Nomenclature Commitee, HGNC:18083 (англ.) . Процитовано 22 серпня 2017.
- (англ.) . Архів оригіналу за 13 червня 2017. Процитовано 22 серпня 2017.
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TRPV4 angl Transient receptor potential cation channel subfamily V member 4 bilok yakij koduyetsya odnojmennim genom roztashovanim u lyudej na korotkomu plechi 12 yi hromosomi Dovzhina polipeptidnogo lancyuga bilka stanovit 871 aminokislot a molekulyarna masa 98 281 TRPV4Nayavni strukturiPDBPoshuk ortologiv PDBe RCSB Spisok kodiv PDB4DX1 4DX2IdentifikatoriSimvoliTRPV4 BCYM3 CMT2C HMSN2C OTRPC4 SMAL SPSMA SSQTL1 TRP12 VRL2 VROAC transient receptor potential cation channel subfamily V member 4Zovnishni ID OMIM 605427 MGI 1926945 HomoloGene 11003 GeneCards TRPV4Pov yazani genetichni zahvoryuvannyaspondylometaphyseal dysplasia Kozlowski type metatropic dysplasia Charcot Marie Tooth disease axonal type 2C spondyloepiphyseal dysplasia Maroteaux type parastremmatic dwarfism familial digital arthropathy brachydactyly neuromuscular disease scapuloperoneal spinal muscular atrophy autosomal dominant congenital benign spinal muscular atrophy Ontologiya genaMolekulyarna funkciya nucleotide binding stretch activated cation selective calcium channel activity osmosensor activity microtubule binding alpha tubulin binding SH2 domain binding calmodulin binding actin filament binding ion channel activity GO 0001948 GO 0016582 protein binding beta tubulin binding cation channel activity actin binding ATP binding protein kinase binding protein kinase C binding calcium channel activity lipid binding identical protein binding zv yazuvannya z ionom metaluKlitinna komponenta integral component of membrane cell projection membrana focal adhesion Filopodiya growth cone Adgezivni kontakti klitinna membrana ruffle membrane cell surface mizhklitinni kontakti apical plasma membrane cortical actin cytoskeleton cytoplasmic microtubule GO 0016023 cytoplasmic vesicle lamellipodium integral component of plasma membrane vijka endoplazmatichnij retikulumBiologichnij proces actin cytoskeleton reorganization cell volume homeostasis cellular response to heat positive regulation of inflammatory response negative regulation of neuron projection development glucose homeostasis cellular hypotonic salinity response positive regulation of chemokine C X C motif ligand 1 production positive regulation of cytosolic calcium ion concentration calcium ion import positive regulation of monocyte chemotactic protein 1 production response to mechanical stimulus negative regulation of brown fat cell differentiation osmosensory signaling pathway cellular calcium ion homeostasis hyperosmotic salinity response microtubule polymerization GO 1901227 negative regulation of transcription by RNA polymerase II positive regulation of JNK cascade cellular hypotonic response ion transport vasopressin secretion cellular response to osmotic stress regulation of response to osmotic stress diet induced thermogenesis response to osmotic stress response to insulin GO 1901313 positive regulation of gene expression positive regulation of vascular permeability calcium ion transmembrane transport cortical microtubule organization positive regulation of chemokine C C motif ligand 5 production cell cell junction assembly positive regulation of ERK1 and ERK2 cascade hypotonic response positive regulation of macrophage inflammatory protein 1 alpha production blood vessel endothelial cell delamination multicellular organismal water homeostasis positive regulation of macrophage chemotaxis calcium ion transport positive regulation of microtubule depolymerization actin filament organization transmembrannij transport cartilage development involved in endochondral bone morphogenesis energy homeostasisDzherela Amigo QuickGOShablon ekspresiyiBilshe danihOrtologiVidi Lyudina MishaEntrez59341 63873Ensembl ENSG00000111199 ENSMUSG00000014158UniProt Q9HBA0 Q9EPK8RefSeq mRNK NM 001177428 NM 001177431 NM 001177433 NM 021625 NM 147204NM 022017RefSeq bilok NP 001170899 NP 001170902 NP 001170904 NP 067638 NP 671737NP 071300Lokus UCSC Hr 12 109 78 109 83 MbHr 5 114 76 114 8 MbPubMed searchVikidaniDiv Red dlya lyudejDiv Red dlya mishej Poslidovnist aminokislot1020304050 MADSSEGPRAGPGEVAELPGDESGTPGGEAFPLSSLANLFEGEDGSLSPS PADASRPAGPGDGRPNLRMKFQGAFRKGVPNPIDLLESTLYESSVVPGPK KAPMDSLFDYGTYRHHSSDNKRWRKKIIEKQPQSPKAPAPQPPPILKVFN RPILFDIVSRGSTADLDGLLPFLLTHKKRLTDEEFREPSTGKTCLPKALL NLSNGRNDTIPVLLDIAERTGNMREFINSPFRDIYYRGQTALHIAIERRC KHYVELLVAQGADVHAQARGRFFQPKDEGGYFYFGELPLSLAACTNQPHI VNYLTENPHKKADMRRQDSRGNTVLHALVAIADNTRENTKFVTKMYDLLL LKCARLFPDSNLEAVLNNDGLSPLMMAAKTGKIGIFQHIIRREVTDEDTR HLSRKFKDWAYGPVYSSLYDLSSLDTCGEEASVLEILVYNSKIENRHEML AVEPINELLRDKWRKFGAVSFYINVVSYLCAMVIFTLTAYYQPLEGTPPY PYRTTVDYLRLAGEVITLFTGVLFFFTNIKDLFMKKCPGVNSLFIDGSFQ LLYFIYSVLVIVSAALYLAGIEAYLAVMVFALVLGWMNALYFTRGLKLTG TYSIMIQKILFKDLFRFLLVYLLFMIGYASALVSLLNPCANMKVCNEDQT NCTVPTYPSCRDSETFSTFLLDLFKLTIGMGDLEMLSSTKYPVVFIILLV TYIILTFVLLLNMLIALMGETVGQVSKESKHIWKLQWATTILDIERSFPV FLRKAFRSGEMVTVGKSSDGTPDRRWCFRVDEVNWSHWNQNLGIINEDPG KNETYQYYGFSHTVGRLRRDRWSSVVPRVVELNKNSNPDEVVVPLDSMGN PRCDGHQQGYPRKWRTDDAPL A Alanin C Cisteyin D Asparaginova kislota E Glutaminova kislota F Fenilalanin G Glicin H Gistidin I Izolejcin K Lizin L Lejcin M Metionin N Asparagin P Prolin Q Glutamin R Arginin S Serin T Treonin V Valin W Triptofan Y Tirozin Kodovanij genom bilok za funkciyeyu nalezhit do ionnih kanaliv Zadiyanij u takih biologichnih procesah yak transport ioniv transport transport kalciyu Bilok maye sajt dlya zv yazuvannya z ATF nukleotidami molekuloyu kalmodulinu ionom kalciyu Lokalizovanij u klitinnij membrani membrani klitinnih kontaktah klitinnih vidrostkah vijkah LiteraturaStrotmann R Harteneck C Nunnenmacher K Schultz G Plant T D 2000 OTRPC4 a nonselective cation channel that confers sensitivity to extracellular osmolarity Nat Cell Biol 2 695 702 PMID 11025659 DOI 10 1038 35036318 Suzuki M Mizuno A Kodaira K Imai M 2003 Impaired pressure sensation in mice lacking TRPV4 J Biol Chem 278 22664 22668 PMID 12692122 DOI 10 1074 jbc M302561200 Arniges M Fernandez Fernandez J M Albrecht N Schaefer M Valverde M A 2006 Human TRPV4 channel splice variants revealed a key role of ankyrin domains in multimerization and trafficking J Biol Chem 281 1580 1586 PMID 16293632 DOI 10 1074 jbc M511456200 The status quality and expansion of the NIH full length cDNA project the Mammalian Gene Collection MGC Genome Res 14 2121 2127 2004 PMID 15489334 DOI 10 1101 gr 2596504 Strotmann R Schultz G Plant T D 2003 Ca2 dependent potentiation of the nonselective cation channel TRPV4 is mediated by a C terminal calmodulin binding site J Biol Chem 278 26541 26549 PMID 12724311 DOI 10 1074 jbc M302590200 Garcia Elias A Lorenzo I M Vicente R Valverde M A 2008 IP3 receptor binds to and sensitizes TRPV4 channel to osmotic stimuli via a calmodulin binding site J Biol Chem 283 31284 31288 PMID 18826956 DOI 10 1074 jbc C800184200PrimitkiZahvoryuvannya genetichno pov yazani z TRPV4 pereglyanuti redaguvati posilannya na VikiDanih Human PubMed Reference Mouse PubMed Reference HUGO Gene Nomenclature Commitee HGNC 18083 angl Procitovano 22 serpnya 2017 angl Arhiv originalu za 13 chervnya 2017 Procitovano 22 serpnya 2017 Div takozhHromosoma 12 Ce nezavershena stattya pro bilki Vi mozhete dopomogti proyektu vipravivshi abo dopisavshi yiyi