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FLASH GENE

Symbol

CYP11A1

contributors: mct/npt - updated : 21-11-2017

HGNC name	cytochrome P450, family 11, subfamily A, polypeptide 1
HGNC id	2590

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000781 9 - 1936 NP_000772 - 521 - 2017 28991453 NM_001099773 9 - 2010 NP_001093243 - 363 - 2017 28991453

EXPRESSION

Type

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular vessels aorta       Endocrine adrenal gland cortex       Reproductive male system testis

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial secretory glandular endocrine

cells

System Cell Pubmed Species Stage Rna symbol Reproductive Leydig cell

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

puberty, pregnancy

Text	syncytiotrophoblast, prepubertal testis

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

conjugated

HemoP

mono polymer

monomer

isoforms

Precursor

HOMOLOGY

interspecies

homolog to rattus cyp11a1

Homologene

FAMILY	multigenic cytochrome P450 superfamily of mixed-function monooxygenases
	cytochrome P450, subfamily XIA

CATEGORY

enzyme , transport

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria,inner
	intracellular,cytoplasm,organelle,mitochondria,matrix
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum
	intracellular,cytoplasm,cytosolic,microsome

basic FUNCTION	cholesterol desmolase converting of cholesterol to pregnenolone first and limiting step in the synthesis of steroid hormones
	catalyzing the first step of steroidogenesis in adrenals and gonads under the control of cAMP-mediated hormonal signals (Guo 2007)
	is the only known enzyme that cleaves the side chain of cholesterol, yielding pregnenolone, the precursor of all steroid hormones
	is the first and rate-limiting enzyme in the steroidogenic pathway, converting cholesterol to pregnenolone
	playing an important role in the metabolism of vitamin D3
	biosynthesis of steroid hormones in vertebrates is initiated by the cytochrome P450 CYP11A1, which performs the side-chain cleavage of cholesterol thereby producing pregnenolone
	sex hormones positively regulate the overall production of steroid hormones suggesting the need to reassess the role of CYP11A1 in steroid hormone biosynthesis and its substrate-dependent mechanistic properties
	likely changes in histone modification and chromatin structure in the CYP11A1 proximal promoter are involved in the rapid increase of CYP11A1 gene expression in granulosa cells (GCs) undergoing luteinization during ovulation
	catalyzes the conversion of cholesterol to pregnenolone through side chain cleavage inside the mitochondria
	rate-limiting step in the steroid synthesis pathway is catalyzed by CYP11A1 through three sequential reactions

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

electron transport

PATHWAY

metabolism

hormone

signaling

a component

INTERACTION

DNA

RNA

small molecule	cofactor, nucleotide,
	NADPH, heme

protein	flavoprotein P450 oxidoreductase (POR)
	expression in human granulosa cells is regulated by NR5A2
	interacting with NR5A1 and JUND (NR5A1 and JUND cooperate to activate CYP11A1 transcription) (Guo 2007)
	transcription factors stimulate CYP11A1 transcriptional activity through interaction with their specific cis-elements or through protein-protein interaction
	supports steroid biosynthesis in steroidogenic cells through electron transfer to the rate-limiting steroidogenic enzyme, CYP11A1

cell & other

REGULATION

Other

CYP11A1 expression is increased in activated T cells

ASSOCIATED DISORDERS

corresponding disease(s)

CYP11A1D

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   in severe preeclampsia compared with normal pregnancy in both mRNA and protein levels (pMID!: 23555523)

Susceptibility

to breast cancer to polycystic ovary syndrome (PCOS)

Variant & Polymorphism other	common variants that may influence expression to significantly modify risk of breast cancer (Yaspan 2007)
	association between CYP11A1 promoter pentanucleotide repeat polymorphism and PCOS

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS