Wikipedia

Receptor vitamina D

Receptor kalcitriola – poznat i kao receptor vitamina D (VDR) i NR1 I 1 (potporodica nuklearnih receptora 1, grupa I, član 1) – je član porodice nuklearnih receptora transkripcijskih faktora.[5] Nakon aktivacije vitamina D, VDR formira heterodimer sa retinoidnim X receptorom i veže sa elementima hormonskog odgovora na DNK. To rezultira u ispoljavanju ili transrepresiji specifičnih genskih proizvoda. VDR-i ne reguliraju samo transkripcijski odgovor, već su uključeni i u posttranskripcijske mehanizme koje usmjerava mikroRNK.[6] Kod ljudi, receptor vitamina D je kodiran genom VDR.[7]

VDR
Dostupne strukture
PDBPretraga ortologa: PDBe RCSB
Spisak PDB ID kodova

1DB1, 1IE8, 1IE9, 1KB2, 1KB4, 1KB6, 1S0Z, 1S19, 1TXI, 1YNW, 2HAM, 2HAR, 2HAS, 2HB7, 2HB8, 3A2I, 3A2J, 3A3Z, 3A40, 3A78, 3AUQ, 3AUR, 3AX8, 3AZ1, 3AZ2, 3AZ3, 3B0T, 3CS4, 3CS6, 3KPZ, 3M7R, 3OGT, 3P8X, 3TKC, 3VHW, 4G2I, 3W0A, 3W0C, 3W0Y, 3WGP, 3WWR, 4ITE, 4ITF, 4PA2, 3X31, 3X36, 4FHH, 4FHI, 2HBH

Identifikatori
AliasiVDR, NR1I1, PPP1R163, receptor vitamina D (1,25- dihidroksivitamin D3), receptor vitamina D
Vanjski ID-jeviOMIM: 601769 MGI: 103076 HomoloGene: 37297 GeneCards: VDR
Lokacija gena (čovjek)
Hromosom 12 (čovjek)
Hrom.Hromosom 12 (čovjek)[1]
Hromosom 12 (čovjek)
Genomska lokacija za VDR
Genomska lokacija za VDR
Bend12q13.11Početak47,841,537 bp[1]
Kraj47,943,048 bp[1]
Lokacija gena (miš)
Hromosom 15 (miš)
Hrom.Hromosom 15 (miš)[2]
Hromosom 15 (miš)
Genomska lokacija za VDR
Genomska lokacija za VDR
Bend15|15 F1Početak97,752,306 bp[2]
Kraj97,808,511 bp[2]
Obrazac RNK ekspresije




Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija• lithocholic acid binding
• sequence-specific DNA binding
• vezivanje sa DNK
• lithocholic acid receptor activity
• GO:0038050, GO:0004886, GO:0038051 nuclear receptor activity
• steroid hormone receptor activity
• GO:0001948, GO:0016582 vezivanje za proteine
• GO:0001131, GO:0001151, GO:0001130, GO:0001204 DNA-binding transcription factor activity
• vezivanje iona cinka
• vezivanje iona metala
• vitamin D response element binding
• retinoid X receptor binding
• calcitriol binding
• GO:0001200, GO:0001133, GO:0001201 DNA-binding transcription factor activity, RNA polymerase II-specific
• GO:0000975 transcription cis-regulatory region binding
• RNA polymerase II transcription regulatory region sequence-specific DNA binding
• vitamin D binding
• transcription factor binding
• nuclear receptor coactivator activity
• signaling receptor activity
Ćelijska komponenta• jedro
• nukleoplazma
• receptor complex
• RNA polymerase II transcription regulator complex
• citoplazma
Biološki proces• negative regulation of cell population proliferation
• positive regulation of apoptotic process involved in mammary gland involution
• positive regulation of keratinocyte differentiation
• regulation of calcidiol 1-monooxygenase activity
• intestinal absorption
• calcium ion transport
• steroid hormone mediated signaling pathway
• GO:0009373 regulation of transcription, DNA-templated
• lactation
• bile acid signaling pathway
• animal organ morphogenesis
• GO:0000767 cell morphogenesis
• skeletal system development
• GO:1901313 positive regulation of gene expression
• GO:0003257, GO:0010735, GO:1901228, GO:1900622, GO:1904488 positive regulation of transcription by RNA polymerase II
• multicellular organism development
• negative regulation of keratinocyte proliferation
• decidualization
• GO:1901227 negative regulation of transcription by RNA polymerase II
• GO:0045996 negative regulation of transcription, DNA-templated
• transcription initiation from RNA polymerase II promoter
• positive regulation of vitamin D 24-hydroxylase activity
• mammary gland branching involved in pregnancy
• GO:0072468 Transdukcija signala
• cellular calcium ion homeostasis
• transcription, DNA-templated
• vitamin D receptor signaling pathway
• vitamin D metabolic process
• Ćelijska diferencijacija
• intracellular receptor signaling pathway
Izvori:Amigo / QuickGO
Ortolozi
VrsteČovjekMiš
Entrez

7421

22337

Ensembl

ENSG00000111424

ENSMUSG00000022479

UniProt

P11473

P48281

RefSeq (mRNK)
NM_000376
NM_001017535
NM_001017536
NM_001364085
NM_001374661

NM_001374662

NM_009504

RefSeq (bjelančevina)
NP_000367
NP_001017535
NP_001017536
NP_001351014
NP_001361590

NP_001361591

NP_033530

Lokacija (UCSC)Chr 12: 47.84 – 47.94 MbChr 15: 97.75 – 97.81 Mb
PubMed pretraga[3][4]
Wikipodaci
Pogledaj/uredi – čovjekPogledaj/uredi – miš

Glukokortikoidi su poznati po smanjivanju ekspresije VDR, što se ispoljava u većini tkiva, a u probavnom traktu regulira transport kalcija, željeza i ostalih minerala.[8]

Funkcija uredi

Sinteza receptora vitamina vitamina D3 je genetički kontrolrana. Ovaj receptor istovremeno funkcionira i kao sekundarna žučna i lithoholna kiselina. Receptor pripada porodici of trans-activnih transcripcijskih regulatornih factora i pokazuju sličnost sekvence sa receptorima steroidnih i tiroidnih hormona.[9]

Nizvodni ciljevi ovog nuklearnog receptora hormona su uključeni uglavnom u metabolizam minerala, iako receptor regulira i niz drugih metaboličkih puteva, kao što su oni koji su uključeni u imuni odgovor i rak.[10]

Mutacije u ovom genu su povezane sa rezistentnošću rahitisa na vitamin D, tip II. Jednostruki nuklearni polimorfizam u inicijacijskom kodonu rezultira izmijenjenom translacijom startnog mjesta, tri kodona nizvodno. Alternativna prerada RNK se ispoljava u više transkribiranih varijanti koje kodiraju isti protein.[11]

Receptor vitamina D ima važnu ulogu u reguliranju ciklusa rasta dlake. Gubitak gena VDR je, kod ekperimentalnih životinja, povezan sa gubitkom dlake[12] |slušnog ježaExperimentalna proučavanja pokazuju da neligandirani VDR stupa u interakciju sa ragulacijskom ciljnom regijom gena cWnt (wnt signalni put) i slušnog ježa i pokreće ovaj put tokom postnatalnog ciklusa rasta dlake.[13] Ove studije su otkrile nove akcije neligandskih VDR u reguliranju post-morfogenog ciklusa dlake.

Interakcije uredi

Kalcitriolski receptor pokazuje interakcije protein-proteinrotein-protein sa

Također pogledajte uredi

Reference uredi

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000111424 - Ensembl, maj 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000022479 - Ensembl, maj 2017
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  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
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  24. ^ Vidal M, Ramana CV, Dusso AS (april 2002). "Stat1-Vitamin D Receptor Interactions Antagonize 1,25-Dihydroxyvitamin D Transcriptional Activity and Enhance Stat1-Mediated Transcription". Mol. Cell. Biol. 22 (8): 2777–87. doi:10.1128/MCB.22.8.2777-2787.2002. PMC 133712. PMID 11909970.CS1 održavanje: upotreba parametra authors (link)
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Vanjski linkovi uredi

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