Sequence of CP7B1_HUMAN

EC Number
Recommended Name
Accession Code
Organism
No of amino acids
Molecular Weight [Da]
Source
25/26-hydroxycholesterol 7alpha-hydroxylase
O75881
Homo sapiens
506
58256
Reaction
(25R)-cholest-5-ene-3beta,26-diol + [reduced NADPH-hemoprotein reductase] + O2 = (25R)-cholest-5-ene-3betA,7alpha,26-triol + [oxidized NADPH-hemoprotein reductase] + H2O
Sequences with same EC No.
Sequence
show sequence in fasta format
  0 MAGEVSAATG RFSLERLGLP GLALAAALLL LALCLLVRRT RRPGEPPLIK GWLPYLGVVL
 60 NLRKDPLRFM KTLQKQHGDT FTVLLGGKYI TFILDPFQYQ LVIKNHKQLS FRVFSNKLLE
120 KAFSISQLQK NHDMNDELHL CYQFLQGKSL DILLESMMQN LKQVFEPQLL KTTSWDTAEL
180 YPFCSSIIFE ITFTTIYGKV IVCDNNKFIS ELRDDFLKFD DKFAYLVSNI PIELLGNVKS
240 IREKIIKCFS SEKLAKMQGW SEVFQSRQDV LEKYYVHEDL EIGAHHLGFL WASVANTIPT
300 MFWAMYYLLR HPEAMAAVRD EIDRLLQSTG QKKGSGFPIH LTREQLDSLI CLESSIFEAL
360 RLSSYSTTIR FVEEDLTLSS ETGDYCVRKG DLVAIFPPVL HGDPEIFEAP EEFRYDRFIE
420 DGKKKTTFFK RGKKLKCYLM PFGTGTSKCP GRFFALMEIK QLLVILLTYF DLEIIDDKPI
480 GLNYSRLLFG IQYPDSDVLF RYKVKS
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Sequence related references
Sequence Reference
Authors
Title
Journal
Volume
Pages
Year
PubMed ID
269329
Setchell K.D.R.,Schwarz M.,O'Connell N.C.,Lund E.G.,Davis D.L.,Lathe R.,Thompson H.R.,Tyson W.R.,Sokol R.J.,Russell D.W.
Identification of a new inborn error in bile acid synthesis: mutation of the oxysterol 7-alpha-hydroxylase gene causes severe neonatal liver disease.
J. Clin. Invest.
102
1690-1703
1998
269330
Wu Z.L.,Martin K.O.,Javitt N.B.,Chiang J.Y.L.
Structure and functions of human oxysterol 7alpha-hydroxylase cDNAs and gene CYP7B1.
J. Lipid Res.
40
2195-2203
1999
269332
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
Genome Res.
14
2121-2127
2004
269333
Yantsevich A.V.,Dichenko Y.V.,Mackenzie F.,Mukha D.V.,Baranovsky A.V.,Gilep A.A.,Usanov S.A.,Strushkevich N.V.
Human steroid and oxysterol 7alpha-hydroxylase CYP7B1: substrate specificity, azole binding and misfolding of clinically relevant mutants.
FEBS J.
281
1700-1713
2014
269334
Bian Y.,Song C.,Cheng K.,Dong M.,Wang F.,Huang J.,Sun D.,Wang L.,Ye M.,Zou H.
An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
J. Proteomics
96
253-262
2014
269335
Tsaousidou M.K.,Ouahchi K.,Warner T.T.,Yang Y.,Simpson M.A.,Laing N.G.,Wilkinson P.A.,Madrid R.E.,Patel H.,Hentati F.,Patton M.A.,Hentati A.,Lamont P.J.,Siddique T.,Crosby A.H.
Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration.
Am. J. Hum. Genet.
82
510-515
2008
269336
Goizet C.,Boukhris A.,Durr A.,Beetz C.,Truchetto J.,Tesson C.,Tsaousidou M.,Forlani S.,Guyant-Marechal L.,Fontaine B.,Guimaraes J.,Isidor B.,Chazouilleres O.,Wendum D.,Grid D.,Chevy F.,Chinnery P.F.,Coutinho P.,Azulay J.P.,Feki I.,Mochel F.,Wolf C.,Mhiri C.,Crosby A.,Brice A.,Stevanin G.
CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5.
Brain
132
1589-1600
2009
269337
Arnoldi A.,Crimella C.,Tenderini E.,Martinuzzi A.,D'Angelo M.G.,Musumeci O.,Toscano A.,Scarlato M.,Fantin M.,Bresolin N.,Bassi M.T.
Clinical phenotype variability in patients with hereditary spastic paraplegia type 5 associated with CYP7B1 mutations.
Clin. Genet.
81
150-157
2012
269338
Roos P.,Svenstrup K.,Danielsen E.R.,Thomsen C.,Nielsen J.E.
CYP7B1: novel mutations and magnetic resonance spectroscopy abnormalities in hereditary spastic paraplegia type 5A.
Acta Neurol. Scand.
129
330-334
2014
269339
Kara E.,Tucci A.,Manzoni C.,Lynch D.S.,Elpidorou M.,Bettencourt C.,Chelban V.,Manole A.,Hamed S.A.,Haridy N.A.,Federoff M.,Preza E.,Hughes D.,Pittman A.,Jaunmuktane Z.,Brandner S.,Xiromerisiou G.,Wiethoff S.,Schottlaender L.,Proukakis C.,Morris H.,Warner T.,Bhatia K.P.,Korlipara L.V.,Singleton A.B.,Hardy J.,Wood N.W.,Lewis P.A.,Houlden H.
Genetic and phenotypic characterization of complex hereditary spastic paraplegia.
Brain
139
1904-1918
2016
269340
Schubert S.F.,Hoffjan S.,Dekomien G.
Mutational analysis of the CYP7B1, PNPLA6 and C19orf12 genes in autosomal recessive hereditary spastic paraplegia.
Mol. Cell. Probes
30
53-55
2016