CYP11A1 cytochrome P450 family 11 subfamily A member 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CYP11A1provided by HGNC
Official Full Name: cytochrome P450 family 11 subfamily A member 1provided by HGNC
Primary source: HGNC:HGNC:2590
See related: Ensembl:ENSG00000140459 MIM:118485; AllianceGenome:HGNC:2590
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: CYP11A; CYPXIA1; P450SCC
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 protein localizes to the mitochondrial inner membrane and catalyzes the conversion of cholesterol to pregnenolone, the first and rate-limiting step in the synthesis of the steroid hormones. Two transcript variants encoding different isoforms have been found for this gene. The cellular location of the smaller isoform is unclear since it lacks the mitochondrial-targeting transit peptide. [provided by RefSeq, Jul 2008]
Expression: Biased expression in adrenal (RPKM 261.9), placenta (RPKM 29.0) and 1 other tissue See more
Orthologs: mouse all
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Genomic context

Location:: 15q24.1

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	15	NC_000015.10 (74337762..74367646, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	15	NC_060939.1 (72205513..72235390, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (74630103..74659987, complement)

Chromosome 15 - NC_000015.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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?

Helicobacter pylori promotes gastric cancer through CagA-mediated mitochondrial cholesterol accumulation by targeting CYP11A1 redistribution.
Title: Helicobacter pylori promotes gastric cancer through CagA-mediated mitochondrial cholesterol accumulation by targeting CYP11A1 redistribution.
The multistep oxidation of cholesterol to pregnenolone by human cytochrome P450 11A1 is highly processive.
Title: The multistep oxidation of cholesterol to pregnenolone by human cytochrome P450 11A1 is highly processive.
The Role of DNMT1 and C/EBPalpha in the Regulation of CYP11A1 Expression During Syncytialization of Human Placental Trophoblasts.
Title: The Role of DNMT1 and C/EBPα in the Regulation of CYP11A1 Expression During Syncytialization of Human Placental Trophoblasts.
Placental DNA methylation analysis of selective fetal growth restriction in monochorionic twins reveals aberrant methylated CYP11A1 gene for fetal growth restriction.
Title: Placental DNA methylation analysis of selective fetal growth restriction in monochorionic twins reveals aberrant methylated CYP11A1 gene for fetal growth restriction.
Exploring the impact of CYP11A1's missense SNPs on the interaction between CYP11A1 and cholesterol: A comprehensive structural analysis and MD simulation study.
Title: Exploring the impact of CYP11A1's missense SNPs on the interaction between CYP11A1 and cholesterol: A comprehensive structural analysis and MD simulation study.
Two siblings with non-classic P450scc deficiency resulted from a novel mutation in CYP11A1 gene misdiagnosed as familial glucocorticoid deficiency.
Title: Two siblings with non-classic P450scc deficiency resulted from a novel mutation in CYP11A1 gene misdiagnosed as familial glucocorticoid deficiency.
In-Silico Investigation of Effects of Single-Nucleotide Polymorphisms in PCOS-Associated CYP11A1 Gene on Mutated Proteins.
Title: In-Silico Investigation of Effects of Single-Nucleotide Polymorphisms in PCOS-Associated CYP11A1 Gene on Mutated Proteins.
Association Analysis of CYP11A1 Variants with Polycystic Ovary Syndrome: a Case-Control Study from North India.
Title: Association Analysis of CYP11A1 Variants with Polycystic Ovary Syndrome: a Case-Control Study from North India.
The significance of CYP11A1 expression in skin physiology and pathology.
Title: The significance of CYP11A1 expression in skin physiology and pathology.
Associations Between Cytochrome P450 (CYP) Gene Single-Nucleotide Polymorphisms and Second-to-Fourth Digit Ratio in Chinese University Students.
Title: Associations Between Cytochrome P450 (CYP) Gene Single-Nucleotide Polymorphisms and Second-to-Fourth Digit Ratio in Chinese University Students.

Submit: New GeneRIF Correction See all GeneRIFs (95)

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

Associated conditions

Description	Tests
Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency MedGen: C3151055 OMIM: 613743 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

CYP1A1 (e-PCR), detects polymorphism
- UniSTS:253969

STS-M14565 (e-PCR)
- UniSTS:54044

Cyp11a1 (e-PCR), detects polymorphism
- UniSTS:256604

D15S1235 (e-PCR)
- UniSTS:64865

D15S1319 (e-PCR)
- UniSTS:45982

SHGC-56724 (e-PCR)
- UniSTS:64718

PMC327197P2 (e-PCR)
- UniSTS:273140

D15S520 (e-PCR)
- UniSTS:148990

STS-R66092 (e-PCR)
- UniSTS:56318

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cholesterol monooxygenase (side-chain-cleaving) activity	IBA Inferred from Biological aspect of Ancestor more info
enables cholesterol monooxygenase (side-chain-cleaving) activity	IDA Inferred from Direct Assay more info	PubMed
enables cholesterol monooxygenase (side-chain-cleaving) activity	ISS Inferred from Sequence or Structural Similarity more info
enables cholesterol monooxygenase (side-chain-cleaving) activity	TAS Traceable Author Statement more info
enables heme binding	IDA Inferred from Direct Assay more info	PubMed
enables iron ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in C21-steroid hormone biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in C21-steroid hormone biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in C21-steroid hormone biosynthetic process	TAS Traceable Author Statement more info
involved_in cellular response to peptide hormone stimulus	IBA Inferred from Biological aspect of Ancestor more info
involved_in cholesterol metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in cholesterol metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in cholesterol metabolic process	IEA Inferred from Electronic Annotation more info
involved_in cholesterol metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cholesterol metabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in cortisol metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in glucocorticoid biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in sterol metabolic process	TAS Traceable Author Statement more info
involved_in vitamin D metabolic process	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
is_active_in mitochondrial inner membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrial inner membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in mitochondrial matrix	TAS Traceable Author Statement more info
located_in mitochondrion	HTP more info	PubMed
located_in mitochondrion	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: cholesterol side-chain cleavage enzyme, mitochondrial

Names: cholesterol 20-22 desmolase; cholesterol monooxygenase (side-chain cleaving); cytochrome P450 11A1; cytochrome P450 family 11 subfamily A polypeptide 1; cytochrome P450(scc); cytochrome P450, subfamily XIA (cholesterol side chain cleavage); steroid 20-22-lyase

NP_000772.2

EC 1.14.15.6

NP_001093243.1

EC 1.14.15.6

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_007973.2 RefSeqGene

Range

5000..34884

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000781.3 → NP_000772.2 cholesterol side-chain cleavage enzyme, mitochondrial isoform a precursor

See identical proteins and their annotated locations for NP_000772.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (a).

Source sequence(s)

AI149078, BC032329, BX398579

Consensus CDS

CCDS32291.1

UniProtKB/Swiss-Prot

A8K8D5, B3KPU8, G3XAD7, P05108, Q15081, Q16805, Q8N1A7

UniProtKB/TrEMBL

A0A0S2Z3R3, B4DTE5

Related

ENSP00000268053.6, ENST00000268053.11

Conserved Domains (1) summary

pfam00067
Location:52 → 511

p450; Cytochrome P450
NM_001099773.2 → NP_001093243.1 cholesterol side-chain cleavage enzyme, mitochondrial isoform b

See identical proteins and their annotated locations for NP_001093243.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate first exon compared to variant 1, resulting in the translation start site being located at a downstream AUG. The resulting isoform (b) is shorter at the N-terminus compared to isoform a.

Source sequence(s)

AC090826

Consensus CDS

CCDS45303.1

UniProtKB/TrEMBL

A8K8D6

Related

ENSP00000351455.4, ENST00000358632.8

Conserved Domains (1) summary

pfam00067
Location:7 → 353

p450; Cytochrome P450