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:0033327 | IEA:Ensembl | P | Leydig cell differentiation |
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: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
Domain Information
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] |