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cytochrome P450 family 17 subfamily A member 1

Summary

Gene Symbol

CYP17A1

Aliases

CPT7
P450C17
S17AH
Steroid 17-alpha-monooxygenase

Organism

Homo sapiens (human)

External Links

NCBI Gene

1586

HGNC

2593

KEGG Gene ID

hsa:1586

PubChem

1586

Alliance of Genome Resources

HGNC:2593

Annotation

Keyword

3D-structure
Congenital adrenal hyperplasia
Disease variant
Heme
Lipid metabolism
Lyase
Membrane
Microsome
Monooxygenase
Phosphoprotein
Reference proteome
Signal
Steroidogenesis

Proteins

Displaying **all 2** entries
UniProt	Protein Name
Q1HB44	CYPXVII Cytochrome P450 17A1 Cytochrome P450-C17 Steroid 17-alpha-monooxygenase
P05093	17-alpha-hydroxyprogesterone aldolase CYPXVII Cytochrome P450 17A1 Cytochrome P450-C17 Steroid 17-alpha-monooxygenase

Annotation information from UniProt.

Gene Ontology (GO)

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GO Term	Evidence Code	PMID
steroid biosynthetic process	TAS	3500022
androgen biosynthetic process	TAS
glucocorticoid biosynthetic process	TAS
glucocorticoid biosynthetic process	IEA
sex differentiation	TAS	9326943

GO Hierarchy

biological process

metabolic process [inference]

biosynthetic process [inference]

hormone biosynthetic process

androgen biosynthetic process

organic substance biosynthetic process [inference]

lipid biosynthetic process [inference]

steroid biosynthetic process

steroid hormone biosynthetic process [inference]

organic cyclic compound biosynthetic process [inference]

steroid biosynthetic process

steroid hormone biosynthetic process [inference]

hormone metabolic process [inference]

C21-steroid hormone metabolic process [inference]

progesterone metabolic process

androgen metabolic process [inference]

androgen biosynthetic process

hormone biosynthetic process

androgen biosynthetic process

cellular metabolic process [inference]

cellular ketone metabolic process [inference]

progesterone metabolic process

primary metabolic process [inference]

lipid metabolic process [inference]

steroid metabolic process

steroid biosynthetic process

steroid hormone biosynthetic process [inference]

C21-steroid hormone metabolic process [inference]

progesterone metabolic process

androgen metabolic process [inference]

androgen biosynthetic process

glucocorticoid metabolic process [inference]

glucocorticoid biosynthetic process

lipid biosynthetic process [inference]

steroid biosynthetic process

steroid hormone biosynthetic process [inference]

small molecule metabolic process [inference]

cellular ketone metabolic process [inference]

progesterone metabolic process

organic substance metabolic process [inference]

lipid metabolic process [inference]

steroid metabolic process

steroid biosynthetic process

steroid hormone biosynthetic process [inference]

C21-steroid hormone metabolic process [inference]

progesterone metabolic process

androgen metabolic process [inference]

androgen biosynthetic process

glucocorticoid metabolic process [inference]

glucocorticoid biosynthetic process

lipid biosynthetic process [inference]

steroid biosynthetic process

steroid hormone biosynthetic process [inference]

cellular ketone metabolic process [inference]

progesterone metabolic process

olefinic compound metabolic process [inference]

progesterone metabolic process

organic cyclic compound metabolic process [inference]

steroid metabolic process

steroid biosynthetic process

steroid hormone biosynthetic process [inference]

C21-steroid hormone metabolic process [inference]

progesterone metabolic process

androgen metabolic process [inference]

androgen biosynthetic process

glucocorticoid metabolic process [inference]

glucocorticoid biosynthetic process

organic cyclic compound biosynthetic process [inference]

steroid biosynthetic process

steroid hormone biosynthetic process [inference]

organic substance biosynthetic process [inference]

lipid biosynthetic process [inference]

steroid biosynthetic process

steroid hormone biosynthetic process [inference]

organic cyclic compound biosynthetic process [inference]

steroid biosynthetic process

steroid hormone biosynthetic process [inference]

cellular process [inference]

C21-steroid hormone metabolic process [inference]

progesterone metabolic process

cellular metabolic process [inference]

cellular ketone metabolic process [inference]

progesterone metabolic process

reproductive process [inference]

developmental process involved in reproduction [inference]

sex differentiation

developmental process [inference]

developmental process involved in reproduction [inference]

sex differentiation

biological regulation [inference]

regulation of biological quality [inference]

regulation of hormone levels [inference]

hormone metabolic process [inference]

C21-steroid hormone metabolic process [inference]

progesterone metabolic process

androgen metabolic process [inference]

androgen biosynthetic process

hormone biosynthetic process

androgen biosynthetic process

Displaying **all 4** entries
GO Term	Evidence Code	PMID
endoplasmic reticulum	NAS	9326943
endoplasmic reticulum membrane	TAS
axon	IEA
neuronal cell body	IEA

GO Hierarchy

cellular component

cellular anatomical entity [inference]

membrane [inference]

organelle membrane [inference]

endoplasmic reticulum membrane

cell projection [inference]

plasma membrane bounded cell projection [inference]

neuron projection [inference]

axon

organelle [inference]

membrane-bounded organelle [inference]

intracellular membrane-bounded organelle [inference]

endoplasmic reticulum

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

endoplasmic reticulum

cell body [inference]

neuronal cell body

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GO Term	Evidence Code	PMID
steroid 17-alpha-monooxygenase activity	TAS
steroid 17-alpha-monooxygenase activity	IDA	22266943 36640554
steroid 17-alpha-monooxygenase activity	IMP	22170710 24140098
steroid 17-alpha-monooxygenase activity	IBA
iron ion binding	IEA

GO Hierarchy

molecular function

catalytic activity [inference]

oxidoreductase activity [inference]

monooxygenase activity [inference]

steroid hydroxylase activity [inference]

oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen [inference]

lyase activity

binding [inference]

small molecule binding [inference]

oxygen binding

ion binding [inference]

cation binding [inference]

metal ion binding [inference]

transition metal ion binding [inference]

iron ion binding

organic cyclic compound binding [inference]

tetrapyrrole binding [inference]

heme binding

Gene Ontology information from NCBI Gene and UniProt.

OrthoDB (Group)

Group level

Eukaryota

Group Name

Cytochrome P450

Functional Category

C: Energy production and conversion
I: Lipid transport and metabolism
T: Signal transduction mechanisms

Displaying **all 6** entries
Gene Ontology
heme binding
iron ion binding
metal ion binding
monooxygenase activity
oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen
oxidoreductase activity

Displaying **all 4** entries
InterPro
Cytochrome P450 superfamily
Cytochrome P450, E-class, group I
Cytochrome P450, conserved site
Cytochrome P450

Human Protein Atlas

ENSG00000148795

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

Data available from v23.0.proteinatlas.org. Image credit: Human Protein Atlas

KEGG BRITE Database

Orthology

K00512

Name

steroid 17alpha-monooxygenase / 17alpha-hydroxyprogesterone deacetylase [EC:1.14.14.19 1.14.14.32]

References

Rhea

RHEA:50236

O₂ + pregnenolone

H₂O + H⁺ + 17α-hydroxypregnenolone

Enzyme

1.14.14.19

PMID

9452426

RHEA:65760

O₂ + a C₂₁-steroid

a 17α-hydroxy-C₂₁-steroid + H₂O + H⁺

Enzyme

1.14.14.19

PMID

RHEA:46308

O₂ + progesterone

H₂O + H⁺ + 17α-hydroxyprogesterone

Enzyme

1.14.14.19

PMID

RHEA:50244

O₂ + 17α-hydroxypregnenolone

H₂O + H⁺ + 3β-hydroxyandrost-5-en-17-one + acetate

Enzyme

PMID

RHEA:14753

O₂ + 17α-hydroxyprogesterone

H₂O + H⁺ + androst-4-ene-3,17-dione + acetate

Enzyme

PMID

Disease

Disease Ontology

Displaying **all 7** entries
DO ID	Disease Name	Source
DOID:0050811	congenital adrenal hyperplasia	Alliance of Genome Resources
DOID:10211	cholelithiasis	Alliance of Genome Resources
DOID:10283	prostate cancer	Alliance of Genome Resources
DOID:11476	osteoporosis	Alliance of Genome Resources
DOID:1612	breast cancer	Alliance of Genome Resources
DOID:1793	pancreatic cancer	Alliance of Genome Resources
DOID:3121	gallbladder cancer	Alliance of Genome Resources

The Human Phenotype Ontology

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HPO ID	HPO Term
HP:0000007	Autosomal recessive inheritance
HP:0000013	Hypoplasia of the uterus
HP:0000026	Male hypogonadism
HP:0000028	Cryptorchidism
HP:0000033	Ambiguous genitalia, male
HP:0000037	Male pseudohermaphroditism
HP:0000047	Hypospadias
HP:0000048	Bifid scrotum
HP:0000054	Micropenis
HP:0000062	Ambiguous genitalia

Displaying **all 3** entries
Disease ID	Disease Name
ORPHA:90796	obsolete 46,XY disorder of sex development due to isolated 17,20-lyase deficiency
OMIM:202110	congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
ORPHA:90793	congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency

PubChem Disease

GHR Health Conditions

17 alpha-hydroxylase/17,20-lyase deficiency

MedGen Diseases

Deficiency of steroid 17-alpha-monooxygenase

OMIM Phenotypes

ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY

KEGG Diseases

Congenital adrenal hyperplasia

Gene-Disease-Co-Occurrences-in-Literature (PubChem)

LIPID MAPS Gene / Proteome Database

LMPD ID: LMP002632
Gene Name: cytochrome P450, family 17, subfamily A, polypeptide 1

Ortholog

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Xenopus tropicalis	1586	Xenbase:XB-GENE-1006797
Mus musculus	13074		MOUSE26570
Rattus norvegicus	25146		RATNO17926
Bos taurus	281739		BOVIN21442
Danio rerio	399692		DANRE05649
Sus scrofa	403330		PIGXX08420
Pan troglodytes	450141		PANTR01466
Canis lupus familiaris	477807		CANLF11436
Felis catus	493967		FELCA26692
Ovis aries	493968		SHEEP11572

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

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Other Information

Tools

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Guidelines

Summary

External Links

Annotation

OrthoDB (Group)

KEGG BRITE Database

PubChem Disease

LIPID MAPS Gene / Proteome Database

International Collaboration

Acknowledgements