CYP51A1 cytochrome P450 family 51 subfamily A member 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CYP51A1provided by HGNC
Official Full Name: cytochrome P450 family 51 subfamily A member 1provided by HGNC
Primary source: HGNC:HGNC:2649
See related: Ensembl:ENSG00000001630 MIM:601637; AllianceGenome:HGNC:2649
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: LDM; CP51; CYP51; CYPL1; P450L1; P450-14DM
Summary: This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This endoplasmic reticulum protein participates in the synthesis of cholesterol by catalyzing the removal of the 14alpha-methyl group from lanosterol. Homologous genes are found in all three eukaryotic phyla, fungi, plants, and animals, suggesting that this is one of the oldest cytochrome P450 genes. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
Expression: Broad expression in liver (RPKM 53.6), testis (RPKM 45.9) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 7q21.2

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (92112153..92134803, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (93353434..93376082, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (91741467..91764117, complement)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

CYP51-mediated cholesterol biosynthesis is required for the proliferation of CD4[+] T cells in Sjogren's syndrome.
Title: CYP51-mediated cholesterol biosynthesis is required for the proliferation of CD4(+) T cells in Sjogren's syndrome.
Processive kinetics in the three-step lanosterol 14alpha-demethylation reaction catalyzed by human cytochrome P450 51A1.
Title: Processive kinetics in the three-step lanosterol 14α-demethylation reaction catalyzed by human cytochrome P450 51A1.
Revealing substrate-induced structural changes in active site of human CYP51 in the presence of its physiological substrates.
Title: Revealing substrate-induced structural changes in active site of human CYP51 in the presence of its physiological substrates.
Concerning P450 Evolution: Structural Analyses Support Bacterial Origin of Sterol 14alpha-Demethylases.
Title: Concerning P450 Evolution: Structural Analyses Support Bacterial Origin of Sterol 14α-Demethylases.
A requirement for an active proton delivery network supports a compound I-mediated C-C bond cleavage in CYP51 catalysis.
Title: A requirement for an active proton delivery network supports a compound I-mediated C-C bond cleavage in CYP51 catalysis.
the E3 ubiquitin ligase membrane-associated ring-CH-type finger 6 (MARCH6), known to control earlier rate-limiting steps in cholesterol synthesis, also control levels of LDM and the terminal cholesterol synthesis enzyme, 24-dehydrocholesterol reductase.
Title: The cholesterol synthesis enzyme lanosterol 14α-demethylase is post-translationally regulated by the E3 ubiquitin ligase MARCH6.
Analysis of molecular docking data demonstrated the ability of abiraterone and galeterone to bind to the active site of CYP51A1, but abiraterone occupies the position closer to the heme.
Title: Interaction of 17α-hydroxylase, 17(20)-lyase (CYP17A1) inhibitors - abiraterone and galeterone - with human sterol 14α-demethylase (CYP51A1).
the regulation of expression of human CYP51A1, the lanosterol 14alpha-demethylase, is reported.
Title: Nitric oxide stimulates cellular degradation of human CYP51A1, the highly conserved lanosterol 14α-demethylase.
Molecular insights regarding substrate profile, faster catalysis, and weaker susceptibility of human CYP51 to inhibition.
Title: Human sterol 14α-demethylase as a target for anticancer chemotherapy: towards structure-aided drug design.
Acyl-Carbon Bond Cleaving Cytochrome P450 Enzymes: CYP17A1, CYP19A1 and CYP51A1.
Title: Acyl-Carbon Bond Cleaving Cytochrome P450 Enzymes: CYP17A1, CYP19A1 and CYP51A1.

Submit: New GeneRIF Correction See all GeneRIFs (22)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Nef	nef	In Jurkat cells HIV-1 Nef upregulates the expression of the sterol 14-alpha demethylase CYP51 gene, which catalyzes the demethylation of lanosterol during cholesterol biosynthesis	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH79131 (e-PCR)
- UniSTS:91166

RH68507 (e-PCR)
- UniSTS:88628

D7S3207 (e-PCR)
- UniSTS:229489

SHGC-67307 (e-PCR)
- UniSTS:89991

D11S3114 (e-PCR)
- UniSTS:152207

CYP51A1_1811 (e-PCR)
- UniSTS:277153

G49195 (e-PCR)
- UniSTS:108974

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables heme binding	IDA Inferred from Direct Assay more info	PubMed
enables iron ion binding	IEA Inferred from Electronic Annotation more info
enables oxidoreductase activity	IBA Inferred from Biological aspect of Ancestor more info
enables sterol 14-demethylase activity	IDA Inferred from Direct Assay more info	PubMed
enables sterol 14-demethylase activity	TAS Traceable Author Statement more info

Process	Evidence Code	Pubs
involved_in cholesterol biosynthetic process	TAS Traceable Author Statement more info
involved_in negative regulation of amyloid-beta clearance	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of protein catabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of protein secretion	ISS Inferred from Sequence or Structural Similarity more info
involved_in steroid biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in sterol metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in sterol metabolic process	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
located_in endoplasmic reticulum membrane	TAS Traceable Author Statement more info
located_in membrane	HDA more info	PubMed

General protein information

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Preferred Names: lanosterol 14-alpha demethylase

Names: CYPLI; cytochrome P450 51A1; cytochrome P450, 51 (lanosterol 14-alpha-demethylase); cytochrome P450, family 51, subfamily A, polypeptide 1; cytochrome P450-14DM; cytochrome P45014DM; cytochrome P450LI; sterol 14-alpha demethylase

NP_000777.1

EC 1.14.14.154

NP_001139624.1

EC 1.14.14.154

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_007968.1 RefSeqGene

Range

5050..27374

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000786.4 → NP_000777.1 lanosterol 14-alpha demethylase isoform 1 precursor

See identical proteins and their annotated locations for NP_000777.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AC000120, U23942

Consensus CDS

CCDS5623.1

UniProtKB/Swiss-Prot

A0A0C4DFL7, A4D1F8, B2RAI4, B4DJ55, O00770, O00772, Q16784, Q16850, Q8N1A8, Q99868

UniProtKB/TrEMBL

A0A8I5KRT9

Related

ENSP00000003100.8, ENST00000003100.13

Conserved Domains (1) summary

cd11042
Location:94 → 505

CYP51-like; cytochrome P450 family 51 and similar cytochrome P450s
NM_001146152.2 → NP_001139624.1 lanosterol 14-alpha demethylase isoform 2

See identical proteins and their annotated locations for NP_001139624.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.

Source sequence(s)

AC000120, AK295932, DC376300

Consensus CDS

CCDS55123.1

UniProtKB/TrEMBL

B3KRC6

Related

ENSP00000406757.1, ENST00000450723.5

Conserved Domains (1) summary

cl12078
Location:1 → 378

p450; Cytochrome P450