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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
hormone biosynthetic process	IBA IDA	22266943
sex differentiation		9326943
androgen biosynthetic process
glucocorticoid biosynthetic process	IEA TAS
progesterone metabolic process	IBA IDA	22266943

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		9326943
axon	IEA
neuronal cell body	IEA
endoplasmic reticulum membrane

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

Displaying **all 5** entries
GO Term	Evidence Code	PMID
steroid 17-alpha-monooxygenase activity	IBA IDA IMP TAS	22170710 22266943 24140098 36640554
oxygen binding		2808364
iron ion binding	IEA
17-alpha-hydroxyprogesterone aldolase activity	IBA IMP	24140098
heme binding	IDA	22266943

GO Hierarchy

molecular function

catalytic activity [inference]

oxidoreductase activity [inference]

monooxygenase activity [inference]

steroid hydroxylase activity [inference]

steroid 17-alpha-monooxygenase activity

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

steroid 17-alpha-monooxygenase activity

lyase activity [inference]

carbon-carbon lyase activity [inference]

aldehyde-lyase activity [inference]

17-alpha-hydroxyprogesterone aldolase 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.

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:14753

O₂ + 17α-hydroxyprogesterone

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

Enzyme

PMID

RHEA:50244

O₂ + 17α-hydroxypregnenolone

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

Enzyme

PMID

RHEA:46308

O₂ + progesterone

H₂O + H⁺ + 17α-hydroxyprogesterone

Enzyme

1.14.14.19

PMID

RHEA:65760

O₂ + a C₂₁-steroid

a 17α-hydroxy-C₂₁-steroid + H₂O + H⁺

Enzyme

1.14.14.19

PMID

RHEA:50236

O₂ + pregnenolone

H₂O + H⁺ + 17α-hydroxypregnenolone

Enzyme

1.14.14.19

PMID

9452426

Disease

Disease Ontology

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DO ID	Disease Name	Source
DOID:263	kidney cancer	DisGeNET
DOID:0050457	Sertoli cell-only syndrome	DisGeNET DisGeNET
DOID:0050477	Liddle syndrome	DisGeNET
DOID:0050745	diffuse large B-cell lymphoma	DisGeNET DisGeNET
DOID:0050782	Zollinger-Ellison syndrome	DisGeNET
DOID:0050801	androgenic alopecia	DisGeNET
DOID:0050811	congenital adrenal hyperplasia	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0060058	lymphoma	DisGeNET DisGeNET
DOID:0060060	non-Hodgkin lymphoma	DisGeNET DisGeNET
DOID:0060262	gallbladder disease	DisGeNET DisGeNET

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:90793	congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
OMIM:202110	congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
ORPHA:90796	obsolete 46,XY disorder of sex development due to isolated 17,20-lyase 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
Callorhinchus milii	103177103		CALMI12168
Danio rerio	399692	ZFIN:ZDB-GENE-040213-2	DANRE05649
Danio rerio	796487	ZFIN:ZDB-GENE-100822-1
Astyanax mexicanus	103036160		ASTMX06597
Ictalurus punctatus	100313515		ICTPU26780
Electrophorus electricus	113585465		ELEEL35460
Salmo salar	106576693		SALSA54864
Salmo trutta	115193858		SALTR89591
Oryzias latipes	100125816		ORYLA19480
Oreochromis niloticus	100703469		ORENI14174

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

All Resources

Other Information

Tools

Search Tools

Summary

External Links

Annotation

KEGG BRITE Database

PubChem Disease

LIPID MAPS Gene / Proteome Database

International Collaboration

Acknowledgements