Idi na sadržaj

DHCR7

S Wikipedije, slobodne enciklopedije
DHCR7
Identifikatori
AliasiDHCR7
Vanjski ID-jeviOMIM: 602858 MGI: 1298378 HomoloGene: 1042 GeneCards: DHCR7
EC broj1.3.1.21
Lokacija gena (čovjek)
Hromosom 11 (čovjek)
Hrom.Hromosom 11 (čovjek)[1]
Hromosom 11 (čovjek)
Genomska lokacija za DHCR7
Genomska lokacija za DHCR7
Bend11q13.4Početak71,428,193 bp[1]
Kraj71,452,868 bp[1]
Lokacija gena (miš)
Hromosom 7 (miš)
Hrom.Hromosom 7 (miš)[2]
Hromosom 7 (miš)
Genomska lokacija za DHCR7
Genomska lokacija za DHCR7
Bend7|7 F5Početak143,376,882 bp[2]
Kraj143,402,147 bp[2]
Obrazac RNK ekspresije


Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor
oxidoreductase activity
NADP binding
7-dehydrocholesterol reductase activity
sterol delta7 reductase activity
Ćelijska komponenta integral component of membrane
endoplasmic reticulum membrane
membrana
intracellular membrane-bounded organelle
integral component of endoplasmic reticulum membrane
Endoplazmatski retikulum
nuclear outer membrane
citosol
Biološki proces Ćelijska diferencijacija
steroid metabolic process
sterol biosynthetic process
multicellular organism growth
lung development
lipid metabolism
cholesterol metabolic process
post-embryonic development
blood vessel development
regulation of cell population proliferation
cholesterol biosynthetic process via lathosterol
cholesterol biosynthetic process via desmosterol
steroid biosynthetic process
cholesterol biosynthetic process
brassinosteroid biosynthetic process
regulation of cholesterol biosynthetic process
Izvori:Amigo / QuickGO
Ortolozi
VrsteČovjekMiš
Entrez
Ensembl
UniProt
RefSeq (mRNK)

NM_001163817
NM_001360

NM_007856
NM_001382498
NM_001382499
NM_001382500
NM_001382501

NM_001382502
NM_001382503

RefSeq (bjelančevina)

NP_001157289
NP_001351

NP_031882
NP_001369427
NP_001369428
NP_001369429
NP_001369430

NP_001369431
NP_001369432

Lokacija (UCSC)Chr 11: 71.43 – 71.45 MbChr 7: 143.38 – 143.4 Mb
PubMed pretraga[3][4]
Wikipodaci
Pogledaj/uredi – čovjekPogledaj/uredi – miš

7-Dehidroholesterol-reduktaza, znana kao DHCR7, je proteinski enzim koji je kod ljudi kodiran genom DHCR7.[5][6][7]

Aminokiselinska sekvenca

[uredi | uredi izvor]

Dužina polipeptidnog lanca je 475 aminokiselina, a molekulska težina 54.489 Da.[8]

1020304050
MAAKSQPNIPKAKSLDGVTNDRTASQGQWGRAWEVDWFSLASVIFLLLFA
PFIVYYFIMACDQYSCALTGPVVDIVTGHARLSDIWAKTPPITRKAAQLY
TLWVTFQVLLYTSLPDFCHKFLPGYVGGIQEGAVTPAGVVNKYQINGLQA
WLLTHLLWFANAHLLSWFSPTIIFDNWIPLLWCANILGYAVSTFAMVKGY
FFPTSARDCKFTGNFFYNYMMGIEFNPRIGKWFDFKLFFNGRPGIVAWTL
INLSFAAKQRELHSHVTNAMVLVNVLQAIYVIDFFWNETWYLKTIDICHD
HFGWYLGWGDCVWLPYLYTLQGLYLVYHPVQLSTPHAVGVLLLGLVGYYI
FRVANHQKDLFRRTDGRCLIWGRKPKVIECSYTSADGQRHHSKLLVSGFW
GVARHFNYVGDLMGSLAYCLACGGGHLLPYFYIIYMAILLTHRCLRDEHR
CASKYGRDWERYTAAVPYRLLPGIF

Funkcija

[uredi | uredi izvor]
7-Dehidroholesterol-reduktaza
Identifikatori
EC broj1.3.1.21
CAS broj9080-21-1
Baze podataka
IntEnzIntEnz pregled
BRENDABRENDA unos
ExPASyNiceZyme pregled
KEGGKEGG unos
MetaCycmetabolički put
PRIAMprofil
PDB struktureRCSB PDB PDBj PDBe PDBsum
Ontologija genaAmiGO / QuickGO
Pretraga
PMCčlanci
PubMedčlanci
NCBIproteini

Protein kodiran ovim genom je enzim koji katalizira proizvodnju holesterola iz 7-dehidroholesterola, pomoću NADPH.

Gen DHCR7 kodira delta-7-sterol reduktazu (EC 1.3.1.21), vrhunski enzim biosinteze sisarskog sterola kojeg pretvara iz 7-dehidroholesterola (7-DHC) u holesterol. Ovaj enzim uklanja C (7-8) dvostruku vezu koju uvode sterol delta8-delta7 izomeraze. Osim toga, poznata je njegova uloga u malformacijama uzrokovanim lijekovima: inhibitori posljednjeg koraka biosinteze holesterola poput AY9944 i BM15766 ozbiljno narušavaju razvoj mozga.[5]

Patologija

[uredi | uredi izvor]

Nedostatak je povezan sa Smith-Lemli-Opitzovim sindromom.[9]

Sve kućne mačke i psi imaju veću aktivnost ovog enzima od uobičajene, uzrokujući nemogućnost sinteze vitamina D zbog nedostatka 7-dehidroholesterola.[10]

Interaktivna mapa puta

[uredi | uredi izvor]

Šablon:VitaminDSynthesis WP1531

Također pogledajta

[uredi | uredi izvor]

Reference

[uredi | uredi izvor]
  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000172893 - Ensembl, maj 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000058454 - Ensembl, maj 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ a b "Entrez Gene: DHCR7 7-dehydrocholesterol reductase".
  6. ^ Moebius FF, Fitzky BU, Lee JN, Paik YK, Glossmann H (Feb 1998). "Molecular cloning and expression of the human delta7-sterol reductase". Proceedings of the National Academy of Sciences of the United States of America. 95 (4): 1899–902. doi:10.1073/pnas.95.4.1899. PMC 19210. PMID 9465114.
  7. ^ Wassif CA, Maslen C, Kachilele-Linjewile S, Lin D, Linck LM, Connor WE, Steiner RD, Porter FD (Jul 1998). "Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome". American Journal of Human Genetics. 63 (1): 55–62. doi:10.1086/301936. PMC 1377256. PMID 9634533.
  8. ^ "UniProt, Q9UBM7". Pristupljeno 20. 8. 2021.
  9. ^ Yu H, Patel SB (Nov 2005). "Recent insights into the Smith-Lemli-Opitz syndrome". Clinical Genetics. 68 (5): 383–91. doi:10.1111/j.1399-0004.2005.00515.x. PMC 1350989. PMID 16207203.
  10. ^ Zafalon, Rafael V. A.; Risolia, Larissa W.; Pedrinelli, Vivian; Vendramini, Thiago H. A.; Rodrigues, Roberta B. A.; Amaral, Andressa R.; Kogika, Marcia M.; Brunetto, Marcio A. (januar 2020). "Vitamin D metabolism in dogs and cats and its relation to diseases not associated with bone metabolism". Journal of Animal Physiology and Animal Nutrition. 104 (1): 322–342. doi:10.1111/jpn.13259. PMID 31803981.

Dopunska literatura

[uredi | uredi izvor]

Vanjski linkovi

[uredi | uredi izvor]

Šablon:Enzimi metabolizma ketona i holesterola

Šablon:Enzymes