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Protein

Sterol 26-hydroxylase, mitochondrial

Gene

CYP27A1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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, NADP

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.
UniPathwayiUPA00955.

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.

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:rs72551313Ensembl.1
Natural variantiVAR_001303395R → C in CTX. 1 PublicationCorresponds to variant dbSNP:rs121908096Ensembl.1
Natural variantiVAR_012285395R → S in CTX. 1 PublicationCorresponds to variant dbSNP:rs121908096Ensembl.1
Natural variantiVAR_012286405R → Q in CTX. 1 PublicationCorresponds to variant dbSNP:rs121908099Ensembl.1
Natural variantiVAR_012287474R → Q in CTX. 1 PublicationCorresponds to variant dbSNP:rs121908097Ensembl.1
Natural variantiVAR_012288474R → W in CTX. 1 PublicationCorresponds to variant dbSNP:rs121908098Ensembl.1
Natural variantiVAR_001304479R → C in CTX. 1 PublicationCorresponds to variant dbSNP:rs72551322Ensembl.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.

PTM databases

iPTMnetiQ02318.
PhosphoSitePlusiQ02318.

Expressioni

Gene expression databases

BgeeiENSG00000135929.
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

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1MFXmodel-A34-531[»]
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.
GeneTreeiENSGT00760000119243.
HOGENOMiHOG000253961.
HOVERGENiHBG106909.
InParanoidiQ02318.
KOiK00488.
OMAiRNDMELW.
OrthoDBiEOG091G0MI3.
PhylomeDBiQ02318.
TreeFamiTF105094.

Family and domain databases

InterProiView protein in InterPro
IPR001128. Cyt_P450.
IPR017972. Cyt_P450_CS.
IPR002401. Cyt_P450_E_grp-I.
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.

Sequencei

Sequence statusi: Complete.

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

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

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:rs72551313Ensembl.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:rs121908096Ensembl.1
Natural variantiVAR_012285395R → S in CTX. 1 PublicationCorresponds to variant dbSNP:rs121908096Ensembl.1
Natural variantiVAR_012286405R → Q in CTX. 1 PublicationCorresponds to variant dbSNP:rs121908099Ensembl.1
Natural variantiVAR_012287474R → Q in CTX. 1 PublicationCorresponds to variant dbSNP:rs121908097Ensembl.1
Natural variantiVAR_012288474R → W in CTX. 1 PublicationCorresponds to variant dbSNP:rs121908098Ensembl.1
Natural variantiVAR_001304479R → C in CTX. 1 PublicationCorresponds to variant dbSNP:rs72551322Ensembl.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 27, 2017
This is version 178 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

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  7. SIMILARITY comments
    Index of protein domains and families