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Protein

Sterol 26-hydroxylase, mitochondrial

Gene

CYP27A1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Catalyzes the first step in the oxidation of the side chain of sterol intermediates; the 27-hydroxylation of 5-beta-cholestane-3-alpha,7-alpha,12-alpha-triol. Has also a vitamin D3-25-hydroxylase activity.By similarity

Catalytic activityi

5-beta-cholestane-3-alpha,7-alpha,12-alpha-triol + 6 reduced adrenodoxin + 6 H+ + 3 O2 = (25R)-3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestan-26-oate + 6 oxidized adrenodoxin + 4 H2O.By similarity

Cofactori

Pathwayi: cholecalciferol biosynthesis

This protein is involved in the pathway cholecalciferol biosynthesis, which is part of Hormone biosynthesis.
View all proteins of this organism that are known to be involved in the pathway cholecalciferol biosynthesis and in Hormone biosynthesis.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi476Iron (heme axial ligand)1

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionMonooxygenase, Oxidoreductase
LigandHeme, Iron, Metal-binding

Enzyme and pathway databases

BRENDAi1.14.99.38 2681
ReactomeiR-HSA-193368 Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol
R-HSA-193775 Synthesis of bile acids and bile salts via 24-hydroxycholesterol
R-HSA-193807 Synthesis of bile acids and bile salts via 27-hydroxycholesterol
R-HSA-211976 Endogenous sterols
R-HSA-5578996 Defective CYP27A1 causes Cerebrotendinous xanthomatosis (CTX)
SIGNORiQ02318
UniPathwayi
UPA00955

Chemistry databases

SwissLipidsiSLP:000000142

Names & Taxonomyi

Protein namesi
Recommended name:
Sterol 26-hydroxylase, mitochondrial (EC:1.14.15.15By similarity)
Alternative name(s):
5-beta-cholestane-3-alpha,7-alpha,12-alpha-triol 27-hydroxylase
Cytochrome P-450C27/25
Cytochrome P450 27
Sterol 27-hydroxylase
Vitamin D(3) 25-hydroxylase
Gene namesi
Name:CYP27A1
Synonyms:CYP27
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

EuPathDBiHostDB:ENSG00000135929.8
HGNCiHGNC:2605 CYP27A1
MIMi606530 gene
neXtProtiNX_Q02318

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Membrane, Mitochondrion

Pathology & Biotechi

Involvement in diseasei

Cerebrotendinous xanthomatosis (CTX)5 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionRare sterol storage disorder characterized clinically by progressive neurologic dysfunction, premature atherosclerosis, and cataracts.
See also OMIM:213700
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_016966145G → E in CTX. 1 PublicationCorresponds to variant dbSNP:rs72551313EnsemblClinVar.1
Natural variantiVAR_001303395R → C in CTX. 1 PublicationCorresponds to variant dbSNP:rs121908096EnsemblClinVar.1
Natural variantiVAR_012285395R → S in CTX. 1 PublicationCorresponds to variant dbSNP:rs121908096EnsemblClinVar.1
Natural variantiVAR_012286405R → Q in CTX. 1 PublicationCorresponds to variant dbSNP:rs121908099EnsemblClinVar.1
Natural variantiVAR_012287474R → Q in CTX. 1 PublicationCorresponds to variant dbSNP:rs121908097EnsemblClinVar.1
Natural variantiVAR_012288474R → W in CTX. 1 PublicationCorresponds to variant dbSNP:rs121908098EnsemblClinVar.1
Natural variantiVAR_001304479R → C in CTX. 1 PublicationCorresponds to variant dbSNP:rs72551322EnsemblClinVar.1

Keywords - Diseasei

Cataract, Disease mutation

Organism-specific databases

DisGeNETi1593
GeneReviewsiCYP27A1
MalaCardsiCYP27A1
MIMi213700 phenotype
OpenTargetsiENSG00000135929
Orphaneti909 Cerebrotendinous xanthomatosis
PharmGKBiPA135

Chemistry databases

ChEMBLiCHEMBL5992
DrugBankiDB06777 Chenodeoxycholic acid
DB00169 Cholecalciferol
DB06410 Doxercalciferol
DB00153 Ergocalciferol
DB00082 Pegvisomant
GuidetoPHARMACOLOGYi1369

Polymorphism and mutation databases

BioMutaiCYP27A1
DMDMi399288

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transit peptidei1 – 33MitochondrionAdd BLAST33
ChainiPRO_000000361834 – 531Sterol 26-hydroxylase, mitochondrialAdd BLAST498

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei283N6-acetyllysineBy similarity1
Modified residuei509N6-acetyllysineBy similarity1
Modified residuei520N6-acetyllysineBy similarity1

Keywords - PTMi

Acetylation

Proteomic databases

EPDiQ02318
MaxQBiQ02318
PaxDbiQ02318
PeptideAtlasiQ02318
PRIDEiQ02318
ProteomicsDBi58080

PTM databases

iPTMnetiQ02318
PhosphoSitePlusiQ02318

Expressioni

Gene expression databases

BgeeiENSG00000135929 Expressed in 210 organ(s), highest expression level in right lobe of liver
CleanExiHS_CYP27A1
ExpressionAtlasiQ02318 baseline and differential
GenevisibleiQ02318 HS

Organism-specific databases

HPAiHPA059155

Interactioni

Protein-protein interaction databases

BioGridi107965, 6 interactors
IntActiQ02318, 1 interactor
STRINGi9606.ENSP00000258415

Chemistry databases

BindingDBiQ02318

Structurei

3D structure databases

ProteinModelPortaliQ02318
SMRiQ02318
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni384 – 398Sterol-bindingSequence analysisAdd BLAST15

Sequence similaritiesi

Belongs to the cytochrome P450 family.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiKOG0159 Eukaryota
COG2124 LUCA
GeneTreeiENSGT00900000140779
HOGENOMiHOG000253961
HOVERGENiHBG106909
InParanoidiQ02318
KOiK00488
OMAiRNDMELW
OrthoDBiEOG091G0MI3
PhylomeDBiQ02318
TreeFamiTF105094

Family and domain databases

Gene3Di1.10.630.10, 1 hit
InterProiView protein in InterPro
IPR001128 Cyt_P450
IPR017972 Cyt_P450_CS
IPR002401 Cyt_P450_E_grp-I
IPR036396 Cyt_P450_sf
PfamiView protein in Pfam
PF00067 p450, 1 hit
PRINTSiPR00463 EP450I
PR00385 P450
SUPFAMiSSF48264 SSF48264, 1 hit
PROSITEiView protein in PROSITE
PS00086 CYTOCHROME_P450, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.iShow all

Q02318-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MAALGCARLR WALRGAGRGL CPHGARAKAA IPAALPSDKA TGAPGAGPGV
60 70 80 90 100
RRRQRSLEEI PRLGQLRFFF QLFVQGYALQ LHQLQVLYKA KYGPMWMSYL
110 120 130 140 150
GPQMHVNLAS APLLEQVMRQ EGKYPVRNDM ELWKEHRDQH DLTYGPFTTE
160 170 180 190 200
GHHWYQLRQA LNQRLLKPAE AALYTDAFNE VIDDFMTRLD QLRAESASGN
210 220 230 240 250
QVSDMAQLFY YFALEAICYI LFEKRIGCLQ RSIPEDTVTF VRSIGLMFQN
260 270 280 290 300
SLYATFLPKW TRPVLPFWKR YLDGWNAIFS FGKKLIDEKL EDMEAQLQAA
310 320 330 340 350
GPDGIQVSGY LHFLLASGQL SPREAMGSLP ELLMAGVDTT SNTLTWALYH
360 370 380 390 400
LSKDPEIQEA LHEEVVGVVP AGQVPQHKDF AHMPLLKAVL KETLRLYPVV
410 420 430 440 450
PTNSRIIEKE IEVDGFLFPK NTQFVFCHYV VSRDPTAFSE PESFQPHRWL
460 470 480 490 500
RNSQPATPRI QHPFGSVPFG YGVRACLGRR IAELEMQLLL ARLIQKYKVV
510 520 530
LAPETGELKS VARIVLVPNK KVGLQFLQRQ C
Length:531
Mass (Da):60,235
Last modified:July 1, 1993 - v1
Checksum:i62025EB670DBD8E9
GO

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9J1K5C9J1K5_HUMAN
Sterol 26-hydroxylase, mitochondria...
CYP27A1
221Annotation score:
F8WD90F8WD90_HUMAN
Sterol 26-hydroxylase, mitochondria...
CYP27A1
115Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti20 – 25LCPHGA → SAPTG in CAA42481 (PubMed:7690968).Curated6
Sequence conflicti171A → R in CAA42481 (PubMed:7690968).Curated1
Sequence conflicti359E → K in AAO21126 (Ref. 3) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_016966145G → E in CTX. 1 PublicationCorresponds to variant dbSNP:rs72551313EnsemblClinVar.1
Natural variantiVAR_061046169A → V. Corresponds to variant dbSNP:rs59443548Ensembl.1
Natural variantiVAR_048467175T → M. Corresponds to variant dbSNP:rs2229381Ensembl.1
Natural variantiVAR_001303395R → C in CTX. 1 PublicationCorresponds to variant dbSNP:rs121908096EnsemblClinVar.1
Natural variantiVAR_012285395R → S in CTX. 1 PublicationCorresponds to variant dbSNP:rs121908096EnsemblClinVar.1
Natural variantiVAR_012286405R → Q in CTX. 1 PublicationCorresponds to variant dbSNP:rs121908099EnsemblClinVar.1
Natural variantiVAR_012287474R → Q in CTX. 1 PublicationCorresponds to variant dbSNP:rs121908097EnsemblClinVar.1
Natural variantiVAR_012288474R → W in CTX. 1 PublicationCorresponds to variant dbSNP:rs121908098EnsemblClinVar.1
Natural variantiVAR_001304479R → C in CTX. 1 PublicationCorresponds to variant dbSNP:rs72551322EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M62401 mRNA Translation: AAA52142.1
X59812 mRNA Translation: CAA42481.1
AY178622 mRNA Translation: AAO21126.1
AK290418 mRNA Translation: BAF83107.1
CH471063 Genomic DNA Translation: EAW70654.1
BC040430 mRNA Translation: AAH40430.1
BC051851 mRNA Translation: AAH51851.1
S62709 Genomic DNA Translation: AAB27199.1
CCDSiCCDS2423.1
PIRiA39740
RefSeqiNP_000775.1, NM_000784.3
UniGeneiHs.516700

Genome annotation databases

EnsembliENST00000258415; ENSP00000258415; ENSG00000135929
GeneIDi1593
KEGGihsa:1593
UCSCiuc002viz.5 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiCP27A_HUMAN
AccessioniPrimary (citable) accession number: Q02318
Secondary accession number(s): A8K303, Q6LDB4, Q86YQ6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 1, 1993
Last sequence update: July 1, 1993
Last modified: September 12, 2018
This is version 185 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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