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Protein

Lanosterol 14-alpha demethylase

Gene

CYP51A1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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.1 Publication

Catalytic activityi

A 14-alpha-methylsteroid + 3 O2 + 3 NADPH = a Delta(14)-steroid + formate + 3 NADP+ + 4 H2O.1 Publication

Cofactori

heme1 Publication

Pathwayi: zymosterol biosynthesis

This protein is involved in step 1 of the subpathway that synthesizes zymosterol from lanosterol.
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

GO - Molecular functioni

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

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Monooxygenase, Oxidoreductase

Keywords - Biological processi

Cholesterol biosynthesis, Cholesterol metabolism, Lipid biosynthesis, Lipid metabolism, Steroid biosynthesis, Steroid metabolism, Sterol biosynthesis, Sterol metabolism

Keywords - Ligandi

Heme, Iron, Metal-binding, NADP

Enzyme and pathway databases

BioCyciMetaCyc:HS00076-MONOMER.
ZFISH: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).
UniPathwayiUPA00770; UER00754.

Chemistry databases

SwissLipidsiSLP:000001162.

Names & Taxonomyi

Protein namesi
Recommended name:
Lanosterol 14-alpha demethylase (EC:1.14.13.70)
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

HGNCiHGNC:2649. CYP51A1.

Subcellular locationi

Topology

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

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane, Microsome

Pathology & Biotechi

Organism-specific databases

DisGeNETi1595.
OpenTargetsiENSG00000001630.
PharmGKBiPA27123.

Chemistry databases

ChEMBLiCHEMBL3849.
DrugBankiDB00199. Erythromycin.
DB01167. 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.

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.
CleanExiHS_CYP51A1.
ExpressionAtlasiQ16850. baseline and differential.
GenevisibleiQ16850. HS.

Organism-specific databases

HPAiHPA041325.
HPA043508.

Interactioni

Protein-protein interaction databases

BioGridi107967. 22 interactors.
IntActiQ16850. 5 interactors.
STRINGi9606.ENSP00000003100.

Chemistry databases

BindingDBiQ16850.

Structurei

Secondary structure

1503
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Turni69 – 73Combined sources5
Helixi74 – 79Combined sources6
Helixi81 – 92Combined sources12
Beta strandi94 – 100Combined sources7
Beta strandi103 – 108Combined sources6
Helixi111 – 119Combined sources9
Turni122 – 124Combined sources3
Beta strandi125 – 127Combined sources3
Helixi128 – 139Combined sources12
Helixi144 – 146Combined sources3
Helixi149 – 162Combined sources14
Helixi165 – 184Combined sources20
Beta strandi188 – 193Combined sources6
Helixi194 – 211Combined sources18
Helixi213 – 217Combined sources5
Helixi221 – 231Combined sources11
Helixi236 – 240Combined sources5
Helixi248 – 273Combined sources26
Helixi281 – 287Combined sources7
Helixi298 – 329Combined sources32
Helixi331 – 345Combined sources15
Helixi354 – 357Combined sources4
Helixi361 – 373Combined sources13
Beta strandi380 – 386Combined sources7
Beta strandi388 – 390Combined sources3
Beta strandi393 – 395Combined sources3
Beta strandi400 – 403Combined sources4
Helixi405 – 408Combined sources4
Turni412 – 414Combined sources3
Turni416 – 419Combined sources4
Helixi423 – 427Combined sources5
Helixi431 – 434Combined sources4
Beta strandi435 – 438Combined sources4
Helixi445 – 447Combined sources3
Helixi452 – 469Combined sources18
Beta strandi470 – 473Combined sources4
Beta strandi475 – 477Combined sources3
Beta strandi486 – 488Combined sources3
Beta strandi490 – 493Combined sources4
Beta strandi495 – 500Combined sources6

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...

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.
GeneTreeiENSGT00800000124060.
HOVERGENiHBG051102.
InParanoidiQ16850.
KOiK05917.
PhylomeDBiQ16850.
TreeFamiTF105091.

Family and domain databases

Gene3Di1.10.630.10. 1 hit.
InterProiIPR001128. Cyt_P450.
IPR017972. Cyt_P450_CS.
IPR002403. Cyt_P450_E_grp-IV.
[Graphical view]
PfamiPF00067. p450. 1 hit.
[Graphical view]
PRINTSiPR00465. EP450IV.
PR00385. P450.
SUPFAMiSSF48264. SSF48264. 1 hit.
PROSITEiPS00086. CYTOCHROME_P450. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

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

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

Sequence cautioni

The sequence AAB39951 differs from that shown. Reason: Erroneous initiation.Curated
The sequence AAB46356 differs from that shown. Reason: Erroneous initiation.Curated
The sequence AAH32322 differs from that shown. Reason: Erroneous initiation.Curated
The sequence BAA09512 differs from that shown. Reason: Erroneous initiation.Curated
The sequence BAG36881 differs from that shown. Reason: Erroneous initiation.Curated
The sequence EAL24154 differs from that shown. Reason: Erroneous initiation.Curated
The sequence EAW76858 differs from that shown. Reason: Erroneous initiation.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 rs2229188dbSNPEnsembl.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

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. 22 interactors.
IntActiQ16850. 5 interactors.
STRINGi9606.ENSP00000003100.

Chemistry databases

BindingDBiQ16850.
ChEMBLiCHEMBL3849.
DrugBankiDB00199. Erythromycin.
DB01167. 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.

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.
GeneCardsiCYP51A1.
HGNCiHGNC:2649. CYP51A1.
HPAiHPA041325.
HPA043508.
MIMi601637. gene.
neXtProtiNX_Q16850.
OpenTargetsiENSG00000001630.
PharmGKBiPA27123.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0684. Eukaryota.
COG2124. LUCA.
GeneTreeiENSGT00800000124060.
HOVERGENiHBG051102.
InParanoidiQ16850.
KOiK05917.
PhylomeDBiQ16850.
TreeFamiTF105091.

Enzyme and pathway databases

UniPathwayiUPA00770; UER00754.
BioCyciMetaCyc:HS00076-MONOMER.
ZFISH: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

EvolutionaryTraceiQ16850.
GenomeRNAii1595.
PROiQ16850.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000001630.
CleanExiHS_CYP51A1.
ExpressionAtlasiQ16850. baseline and differential.
GenevisibleiQ16850. HS.

Family and domain databases

Gene3Di1.10.630.10. 1 hit.
InterProiIPR001128. Cyt_P450.
IPR017972. Cyt_P450_CS.
IPR002403. Cyt_P450_E_grp-IV.
[Graphical view]
PfamiPF00067. p450. 1 hit.
[Graphical view]
PRINTSiPR00465. EP450IV.
PR00385. P450.
SUPFAMiSSF48264. SSF48264. 1 hit.
PROSITEiPS00086. CYTOCHROME_P450. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiCP51A_HUMAN
AccessioniPrimary (citable) accession number: Q16850
Secondary accession number(s): A4D1F8
, B2RAI4, B4DJ55, O00770, O00772, Q16784, Q8N1A8, Q99868
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: December 15, 1998
Last modified: November 2, 2016
This is version 161 of the entry and version 3 of the sequence. [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 7
    Human chromosome 7: 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.