Gene/Proteome Database (LMPD)

LMPD ID
LMP002632
Gene ID
Species
Homo sapiens (Human)
Gene Name
cytochrome P450, family 17, subfamily A, polypeptide 1
Gene Symbol
Synonyms
CPT7; CYP17; P450C17; S17AH
Alternate Names
steroid 17-alpha-hydroxylase/17,20 lyase; CYPXVII; cytochrome P450c17; cytochrome P450-C17; cytochrome P450 17A1; cytochrome p450 XVIIA1; steroid 17-alpha-monooxygenase; 17-alpha-hydroxyprogesterone aldolase; cytochrome P450, subfamily XVII (steroid 17-alpha-hydroxylase), adrenal hyperplasia
Chromosome
10
Map Location
10q24.3
EC Number
1.14.99.9
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 endoplasmic reticulum. It has both 17alpha-hydroxylase and 17,20-lyase activities and is a key enzyme in the steroidogenic pathway that produces progestins, mineralocorticoids, glucocorticoids, androgens, and estrogens. Mutations in this gene are associated with isolated steroid-17 alpha-hydroxylase deficiency, 17-alpha-hydroxylase/17,20-lyase deficiency, pseudohermaphroditism, and adrenal hyperplasia. [provided by RefSeq, Jul 2008]
Orthologs

Proteins

steroid 17-alpha-hydroxylase/17,20 lyase precursor
Refseq ID NP_000093
Protein GI 4503195
UniProt ID P05093
mRNA ID NM_000102
Length 508
RefSeq Status REVIEWED
MWELVALLLLTLAYLFWPKRRCPGAKYPKSLLSLPLVGSLPFLPRHGHMHNNFFKLQKKYGPIYSVRMGTKTTVIVGHHQLAKEVLIKKGKDFSGRPQMATLDIASNNRKGIAFADSGAHWQLHRRLAMATFALFKDGDQKLEKIICQEISTLCDMLATHNGQSIDISFPVFVAVTNVISLICFNTSYKNGDPELNVIQNYNEGIIDNLSKDSLVDLVPWLKIFPNKTLEKLKSHVKIRNDLLNKILENYKEKFRSDSITNMLDTLMQAKMNSDNGNAGPDQDSELLSDNHILTTIGDIFGAGVETTTSVVKWTLAFLLHNPQVKKKLYEEIDQNVGFSRTPTISDRNRLLLLEATIREVLRLRPVAPMLIPHKANVDSSIGEFAVDKGTEVIINLWALHHNEKEWHQPDQFMPERFLNPAGTQLISPSVSYLPFGAGPRSCIGEILARQELFLIMAWLLQRFDLEVPDDGQLPSLEGIPKVVFLIDSFKVKIKVRQAWREAQAEGST
sig_peptide: 1..18 inference: COORDINATES: ab initio prediction:SignalP:4.0 calculated_mol_wt: 2193 peptide sequence: MWELVALLLLTLAYLFWP

Gene Information

Entrez Gene ID
Gene Name
cytochrome P450, family 17, subfamily A, polypeptide 1
Gene Symbol
Species
Homo sapiens

Gene Ontology (GO Annotations)

GO ID Source Type Description
GO:0030424 IEA:Ensembl C axon
GO:0005783 NAS:ProtInc C endoplasmic reticulum
GO:0005789 TAS:Reactome C endoplasmic reticulum membrane
GO:0005739 IEA:Ensembl C mitochondrion
GO:0043025 IEA:Ensembl C neuronal cell body
GO:0047442 IEA:UniProtKB-EC F 17-alpha-hydroxyprogesterone aldolase activity
GO:0020037 IDA:UniProtKB F heme binding
GO:0005506 IEA:InterPro F iron ion binding
GO:0019825 TAS:ProtInc F oxygen binding
GO:0004508 IDA:UniProtKB F steroid 17-alpha-monooxygenase activity
GO:0030325 IEA:Ensembl P adrenal gland development
GO:0006702 TAS:Reactome P androgen biosynthetic process
GO:0018879 IEA:Ensembl P biphenyl metabolic process
GO:0071236 IEA:Ensembl P cellular response to antibiotic
GO:0071371 IEA:Ensembl P cellular response to gonadotropin stimulus
GO:0071222 IEA:Ensembl P cellular response to lipopolysaccharide
GO:0018894 IEA:Ensembl P dibenzo-p-dioxin metabolic process
GO:0006704 TAS:Reactome P glucocorticoid biosynthetic process
GO:0021766 IEA:Ensembl P hippocampus development
GO:0042446 IDA:UniProtKB P hormone biosynthetic process
GO:0033327 IEA:Ensembl P Leydig cell differentiation
GO:0030728 IEA:Ensembl P ovulation
GO:0018958 IEA:Ensembl P phenol-containing compound metabolic process
GO:0018963 IEA:Ensembl P phthalate metabolic process
GO:0090031 IEA:Ensembl P positive regulation of steroid hormone biosynthetic process
GO:0042448 IDA:UniProtKB P progesterone metabolic process
GO:0010034 IEA:Ensembl P response to acetate
GO:0051591 IEA:Ensembl P response to cAMP
GO:0034097 IEA:Ensembl P response to cytokine
GO:0042493 IEA:Ensembl P response to drug
GO:0060992 IEA:Ensembl P response to fungicide
GO:0009635 IEA:Ensembl P response to herbicide
GO:0017085 IEA:Ensembl P response to insecticide
GO:0010212 IEA:Ensembl P response to ionizing radiation
GO:0051597 IEA:Ensembl P response to methylmercury
GO:0031667 IEA:Ensembl P response to nutrient levels
GO:0032526 IEA:Ensembl P response to retinoic acid
GO:0048545 IEA:Ensembl P response to steroid hormone
GO:0007548 TAS:ProtInc P sex differentiation
GO:0044281 TAS:Reactome P small molecule metabolic process
GO:0006694 TAS:ProtInc P steroid biosynthetic process
GO:0008202 IDA:UniProtKB P steroid metabolic process
GO:0016125 TAS:Reactome P sterol metabolic process
GO:0006805 TAS:Reactome P xenobiotic metabolic process

KEGG Pathway Links

KEGG Pathway ID Description
hsa04913 Ovarian steroidogenesis
hsa04917 Prolactin signaling pathway
hsa00140 Steroid hormone biosynthesis

Domain Information

InterPro Annotations

Accession Description
IPR001128 Cytochrome P450
IPR017972 Cytochrome P450, conserved site
IPR002401 Cytochrome P450, E-class, group I

UniProt Annotations

Entry Information

Gene Name
cytochrome P450, family 17, subfamily A, polypeptide 1
Protein Entry
CP17A_HUMAN
UniProt ID
Species
Human

Comments

Comment Type Description
Catalytic Activity 17-alpha-hydroxyprogesterone = androst-4-ene- 3,17-dione + acetaldehyde.
Catalytic Activity A C(21)-steroid + (reduced NADPH--hemoprotein reductase) + O(2) = a 17-alpha-hydroxy-C(21)-steroid + (oxidized NADPH--hemoprotein reductase) + H(2)O.
Cofactor Name=heme; Xref=ChEBI
Disease Adrenal hyperplasia 5 (AH5) [MIM
Enzyme Regulation Regulated predominantly by intracellular cAMP levels.
Function Conversion of pregnenolone and progesterone to their 17- alpha-hydroxylated products and subsequently to dehydroepiandrosterone (DHEA) and androstenedione. Catalyzes both the 17-alpha-hydroxylation and the 17,20-lyase reaction. Involved in sexual development during fetal life and at puberty.
Pathway Lipid metabolism; steroid biosynthesis.
Ptm Phosphorylation is necessary for 17,20-lyase, but not for 17- alpha-hydroxylase activity.
Similarity Belongs to the cytochrome P450 family.
Subcellular Location Membrane .
Web Resource Name=SHMPD; Note=The Singapore human mutation and polymorphism database; URL="http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=CYP17A1";

Identical and Related Proteins

Unique RefSeq proteins for LMP002632 (as displayed in Record Overview)

Protein GI Database Accession Length Protein Name
4503195 RefSeq NP_000093 508 steroid 17-alpha-hydroxylase/17,20 lyase precursor

Identical Sequences to LMP002632 proteins

Reference Database Accession Length Protein Name
GI:4503195 DBBJ BAF82587.1 508 unnamed protein product [Homo sapiens]
GI:4503195 GenBank ABY87534.1 508 cytochrome P450, family 17, subfamily A, polypeptide 1 [Homo sapiens]
GI:4503195 GenBank AEW40290.1 508 Sequence 160 from patent US 8071291
GI:4503195 GenBank AHD69435.1 508 Sequence 449 from patent US 8586006
GI:4503195 GenBank AIC48611.1 508 CYP17A1, partial [synthetic construct]
GI:4503195 GenBank AIC62973.1 508 CYP17A1, partial [synthetic construct]

Related Sequences to LMP002632 proteins

Reference Database Accession Length Protein Name
GI:4503195 DBBJ BAG35168.1 508 unnamed protein product [Homo sapiens]
GI:4503195 GenBank AAN86251.1 508 cytochrome P450c17 [Pan troglodytes]
GI:4503195 GenBank AAX41315.1 508 cytochrome P450 family 17 subfamily A polypeptide 1 [synthetic construct]
GI:4503195 GenBank AAX41316.1 508 cytochrome P450 family 17 subfamily A polypeptide 1 [synthetic construct]
GI:4503195 RefSeq NP_001009052.1 508 steroid 17-alpha-hydroxylase/17,20 lyase precursor [Pan troglodytes]
GI:4503195 SwissProt Q8HYN1.1 508 RecName: Full=Steroid 17-alpha-hydroxylase/17,20 lyase; AltName: Full=17-alpha-hydroxyprogesterone aldolase; AltName: Full=CYPXVII; AltName: Full=Cytochrome P450 17A1; AltName: Full=Cytochrome P450-C17; Short=Cytochrome P450c17 [Pan troglodytes]