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Protein

Lanosterol 14-alpha demethylase

Gene

CYP51A1

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

Functioni

Catalyzes C14-demethylation of lanosterol; it transforms lanosterol into 4,4'-dimethyl cholesta-8,14,24-triene-3-beta-ol.2 Publications

Catalytic activityi

A 14-alpha-methylsteroid + 3 [reduced NADPH--hemoprotein reductase] + 3 O2 = a Delta(14)-steroid + formate + 3 [oxidized NADPH--hemoprotein reductase] + 4 H2O.2 Publications

Cofactori

heme1 Publication

Pathwayi: zymosterol biosynthesis

This protein is involved in step 1 of the subpathway that synthesizes zymosterol from lanosterol.1 Publication
Proteins known to be involved in the 6 steps of the subpathway in this organism are:
  1. Lanosterol 14-alpha demethylase (CYP51A1)
  2. no protein annotated in this organism
  3. Methylsterol monooxygenase 1 (MSMO1)
  4. Sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating (NSDHL)
  5. 3-keto-steroid reductase (HSD17B7)
  6. no protein annotated in this organism
This subpathway is part of the pathway zymosterol biosynthesis, which is itself part of Steroid biosynthesis.
View all proteins of this organism that are known to be involved in the subpathway that synthesizes zymosterol from lanosterol, the pathway zymosterol biosynthesis and in Steroid biosynthesis.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi449Iron (heme axial ligand)1 Publication1

GO - Molecular functioni

  • heme binding Source: UniProtKB
  • iron ion binding Source: InterPro
  • sterol 14-demethylase activity Source: UniProtKB

GO - Biological processi

Keywordsi

Molecular functionMonooxygenase, Oxidoreductase
Biological processCholesterol biosynthesis, Cholesterol metabolism, Lipid biosynthesis, Lipid metabolism, Steroid biosynthesis, Steroid metabolism, Sterol biosynthesis, Sterol metabolism
LigandHeme, Iron, Metal-binding

Enzyme and pathway databases

BioCyciMetaCyc:HS00076-MONOMER
BRENDAi1.14.13.70 2681
ReactomeiR-HSA-191273 Cholesterol biosynthesis
R-HSA-211976 Endogenous sterols
R-HSA-2426168 Activation of gene expression by SREBF (SREBP)
UniPathwayi
UPA00770;UER00754

Chemistry databases

SwissLipidsiSLP:000001162

Names & Taxonomyi

Protein namesi
Recommended name:
Lanosterol 14-alpha demethylase (EC:1.14.14.1542 Publications)
Short name:
LDM
Alternative name(s):
CYPLI
Cytochrome P450 51A1
Cytochrome P450-14DM
Short name:
Cytochrome P45014DM
Cytochrome P450LI
Sterol 14-alpha demethylase
Gene namesi
Name:CYP51A1
Synonyms:CYP51
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

EuPathDBiHostDB:ENSG00000001630.15
HGNCiHGNC:2649 CYP51A1
MIMi601637 gene
neXtProtiNX_Q16850

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

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei24 – 44HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane, Microsome

Pathology & Biotechi

Organism-specific databases

DisGeNETi1595
OpenTargetsiENSG00000001630
PharmGKBiPA27123

Chemistry databases

ChEMBLiCHEMBL3849
DrugBankiDB01167 Itraconazole
DB01026 Ketoconazole
DB00916 Metronidazole
DB01045 Rifampicin
DB01153 Sertaconazole
DB01007 Tioconazole
GuidetoPHARMACOLOGYi1374

Polymorphism and mutation databases

DMDMi3915660

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000519981 – 503Lanosterol 14-alpha demethylaseAdd BLAST503

Proteomic databases

EPDiQ16850
MaxQBiQ16850
PaxDbiQ16850
PeptideAtlasiQ16850
PRIDEiQ16850
ProteomicsDBi61101
61102 [Q16850-2]

PTM databases

iPTMnetiQ16850
PhosphoSitePlusiQ16850
SwissPalmiQ16850

Expressioni

Tissue specificityi

Ubiquitously expressed with highest levels in testis, ovary, adrenal, prostate, liver, kidney and lung.1 Publication

Gene expression databases

BgeeiENSG00000001630 Expressed in 98 organ(s), highest expression level in adrenal tissue
CleanExiHS_CYP51A1
ExpressionAtlasiQ16850 baseline and differential
GenevisibleiQ16850 HS

Organism-specific databases

HPAiHPA041325
HPA043508

Interactioni

Protein-protein interaction databases

BioGridi107967, 41 interactors
IntActiQ16850, 7 interactors
STRINGi9606.ENSP00000003100

Chemistry databases

BindingDBiQ16850

Structurei

Secondary structure

1503
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliQ16850
SMRiQ16850
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ16850

Family & Domainsi

Sequence similaritiesi

Belongs to the cytochrome P450 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG0684 Eukaryota
COG2124 LUCA
GeneTreeiENSGT00930000151026
HOVERGENiHBG051102
InParanoidiQ16850
KOiK05917
PhylomeDBiQ16850
TreeFamiTF105091

Family and domain databases

Gene3Di1.10.630.10, 1 hit
InterProiView protein in InterPro
IPR001128 Cyt_P450
IPR017972 Cyt_P450_CS
IPR002403 Cyt_P450_E_grp-IV
IPR036396 Cyt_P450_sf
PfamiView protein in Pfam
PF00067 p450, 1 hit
PRINTSiPR00465 EP450IV
PR00385 P450
SUPFAMiSSF48264 SSF48264, 1 hit
PROSITEiView protein in PROSITE
PS00086 CYTOCHROME_P450, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q16850-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MLLLGLLQAG GSVLGQAMEK VTGGNLLSML LIACAFTLSL VYLIRLAAGH
60 70 80 90 100
LVQLPAGVKS PPYIFSPIPF LGHAIAFGKS PIEFLENAYE KYGPVFSFTM
110 120 130 140 150
VGKTFTYLLG SDAAALLFNS KNEDLNAEDV YSRLTTPVFG KGVAYDVPNP
160 170 180 190 200
VFLEQKKMLK SGLNIAHFKQ HVSIIEKETK EYFESWGESG EKNVFEALSE
210 220 230 240 250
LIILTASHCL HGKEIRSQLN EKVAQLYADL DGGFSHAAWL LPGWLPLPSF
260 270 280 290 300
RRRDRAHREI KDIFYKAIQK RRQSQEKIDD ILQTLLDATY KDGRPLTDDE
310 320 330 340 350
VAGMLIGLLL AGQHTSSTTS AWMGFFLARD KTLQKKCYLE QKTVCGENLP
360 370 380 390 400
PLTYDQLKDL NLLDRCIKET LRLRPPIMIM MRMARTPQTV AGYTIPPGHQ
410 420 430 440 450
VCVSPTVNQR LKDSWVERLD FNPDRYLQDN PASGEKFAYV PFGAGRHRCI
460 470 480 490 500
GENFAYVQIK TIWSTMLRLY EFDLIDGYFP TVNYTTMIHT PENPVIRYKR

RSK
Length:503
Mass (Da):56,806
Last modified:December 15, 1998 - v3
Checksum:i4FCEC147FB4DED86
GO
Isoform 2 (identifier: Q16850-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-99: Missing.

Note: No experimental confirmation available.
Show »
Length:404
Mass (Da):46,312
Checksum:i2D5198C9B55ED478
GO

Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A0C4DFL7A0A0C4DFL7_HUMAN
Lanosterol 14-alpha demethylase
CYP51A1
509Annotation score:
H7C0D0H7C0D0_HUMAN
Lanosterol 14-alpha demethylase
CYP51A1
222Annotation score:
C9IYR8C9IYR8_HUMAN
Lanosterol 14-alpha demethylase
CYP51A1
30Annotation score:

Sequence cautioni

The sequence AAB39951 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence AAB46356 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence AAH32322 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence BAA09512 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence BAG36881 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence EAL24154 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence EAW76858 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti270K → E in BAG36881 (PubMed:14702039).Curated1
Sequence conflicti272R → T in AAC50951 (PubMed:8975714).Curated1
Sequence conflicti368K → R in AAC50951 (PubMed:8975714).Curated1
Sequence conflicti377I → V in AAH32322 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02347013V → A. Corresponds to variant dbSNP:rs2229188Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0374131 – 99Missing in isoform 2. 1 PublicationAdd BLAST99

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U23942 mRNA Translation: AAB39951.1 Different initiation.
D55653 mRNA Translation: BAA09512.1 Different initiation.
U51692
, U51684, U51685, U51686, U51687, U51688, U51689, U51690, U51691 Genomic DNA Translation: AAC50951.1
AK314205 mRNA Translation: BAG36881.1 Different initiation.
AK295932 mRNA Translation: BAG58717.1
AC000120 Genomic DNA Translation: AAB46356.1 Different initiation.
CH236949 Genomic DNA Translation: EAL24154.1 Different initiation.
CH471091 Genomic DNA Translation: EAW76858.1 Different initiation.
CH471091 Genomic DNA Translation: EAW76859.1
BC032322 mRNA Translation: AAH32322.1 Different initiation.
CCDSiCCDS55123.1 [Q16850-2]
PIRiJC4759
S68855
RefSeqiNP_000777.1, NM_000786.3
NP_001139624.1, NM_001146152.1 [Q16850-2]
UniGeneiHs.417077

Genome annotation databases

EnsembliENST00000450723; ENSP00000406757; ENSG00000001630 [Q16850-2]
GeneIDi1595
KEGGihsa:1595
UCSCiuc003ulm.5 human [Q16850-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U23942 mRNA Translation: AAB39951.1 Different initiation.
D55653 mRNA Translation: BAA09512.1 Different initiation.
U51692
, U51684, U51685, U51686, U51687, U51688, U51689, U51690, U51691 Genomic DNA Translation: AAC50951.1
AK314205 mRNA Translation: BAG36881.1 Different initiation.
AK295932 mRNA Translation: BAG58717.1
AC000120 Genomic DNA Translation: AAB46356.1 Different initiation.
CH236949 Genomic DNA Translation: EAL24154.1 Different initiation.
CH471091 Genomic DNA Translation: EAW76858.1 Different initiation.
CH471091 Genomic DNA Translation: EAW76859.1
BC032322 mRNA Translation: AAH32322.1 Different initiation.
CCDSiCCDS55123.1 [Q16850-2]
PIRiJC4759
S68855
RefSeqiNP_000777.1, NM_000786.3
NP_001139624.1, NM_001146152.1 [Q16850-2]
UniGeneiHs.417077

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3JUSX-ray2.90A/B54-502[»]
3JUVX-ray3.12A54-502[»]
3LD6X-ray2.80A/B54-502[»]
4UHIX-ray2.04A/B/C/D61-503[»]
4UHLX-ray2.50A/B/C/D/E/F/G/H61-503[»]
ProteinModelPortaliQ16850
SMRiQ16850
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107967, 41 interactors
IntActiQ16850, 7 interactors
STRINGi9606.ENSP00000003100

Chemistry databases

BindingDBiQ16850
ChEMBLiCHEMBL3849
DrugBankiDB01167 Itraconazole
DB01026 Ketoconazole
DB00916 Metronidazole
DB01045 Rifampicin
DB01153 Sertaconazole
DB01007 Tioconazole
GuidetoPHARMACOLOGYi1374
SwissLipidsiSLP:000001162

PTM databases

iPTMnetiQ16850
PhosphoSitePlusiQ16850
SwissPalmiQ16850

Polymorphism and mutation databases

DMDMi3915660

Proteomic databases

EPDiQ16850
MaxQBiQ16850
PaxDbiQ16850
PeptideAtlasiQ16850
PRIDEiQ16850
ProteomicsDBi61101
61102 [Q16850-2]

Protocols and materials databases

DNASUi1595
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000450723; ENSP00000406757; ENSG00000001630 [Q16850-2]
GeneIDi1595
KEGGihsa:1595
UCSCiuc003ulm.5 human [Q16850-1]

Organism-specific databases

CTDi1595
DisGeNETi1595
EuPathDBiHostDB:ENSG00000001630.15
GeneCardsiCYP51A1
HGNCiHGNC:2649 CYP51A1
HPAiHPA041325
HPA043508
MIMi601637 gene
neXtProtiNX_Q16850
OpenTargetsiENSG00000001630
PharmGKBiPA27123
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0684 Eukaryota
COG2124 LUCA
GeneTreeiENSGT00930000151026
HOVERGENiHBG051102
InParanoidiQ16850
KOiK05917
PhylomeDBiQ16850
TreeFamiTF105091

Enzyme and pathway databases

UniPathwayi
UPA00770;UER00754

BioCyciMetaCyc:HS00076-MONOMER
BRENDAi1.14.13.70 2681
ReactomeiR-HSA-191273 Cholesterol biosynthesis
R-HSA-211976 Endogenous sterols
R-HSA-2426168 Activation of gene expression by SREBF (SREBP)

Miscellaneous databases

ChiTaRSiCYP51A1 human
EvolutionaryTraceiQ16850
GenomeRNAii1595
PROiPR:Q16850
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000001630 Expressed in 98 organ(s), highest expression level in adrenal tissue
CleanExiHS_CYP51A1
ExpressionAtlasiQ16850 baseline and differential
GenevisibleiQ16850 HS

Family and domain databases

Gene3Di1.10.630.10, 1 hit
InterProiView protein in InterPro
IPR001128 Cyt_P450
IPR017972 Cyt_P450_CS
IPR002403 Cyt_P450_E_grp-IV
IPR036396 Cyt_P450_sf
PfamiView protein in Pfam
PF00067 p450, 1 hit
PRINTSiPR00465 EP450IV
PR00385 P450
SUPFAMiSSF48264 SSF48264, 1 hit
PROSITEiView protein in PROSITE
PS00086 CYTOCHROME_P450, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiCP51A_HUMAN
AccessioniPrimary (citable) accession number: Q16850
Secondary accession number(s): A4D1F8
, B2RAI4, B4DJ55, O00770, O00772, Q16784, Q8N1A8, Q99868
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: December 15, 1998
Last modified: November 7, 2018
This is version 175 of the entry and version 3 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. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
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