Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Steroid 17-alpha-hydroxylase/17,20 lyase

Gene

CYP17A1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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.1 Publication

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

  • A C(21)-steroid + [reduced NADPH--hemoprotein reductase] + O(2) = a 17-alpha-hydroxy-C(21)-steroid + [oxidized NADPH--hemoprotein reductase] + H(2)O.1 Publication EC:1.14.14.19

<p>This subsection of the ‘Function’ section provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

heme1 Publication

<p>This subsection of the ‘Function’ section describes regulatory mechanisms for enzymes, transporters or microbial transcription factors, and reports the components which regulate (by activation or inhibition) the reaction.<p><a href='/help/activity_regulation' target='_top'>More...</a></p>Activity regulationi

Regulated predominantly by intracellular cAMP levels.

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>Pathwayi: steroid biosynthesis

This protein is involved in the pathway steroid biosynthesis, which is part of Lipid metabolism.
View all proteins of this organism that are known to be involved in the pathway steroid biosynthesis and in Lipid metabolism.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the ‘Description’ field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi442Iron (heme axial ligand)1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • 17-alpha-hydroxyprogesterone aldolase activity Source: UniProtKB
  • heme binding Source: UniProtKB
  • iron ion binding Source: InterPro
  • oxygen binding Source: ProtInc
  • steroid 17-alpha-monooxygenase activity Source: UniProtKB

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionLyase, Monooxygenase, Oxidoreductase
Biological processSteroidogenesis
LigandHeme, Iron, Metal-binding

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

More...
BioCyci
MetaCyc:HS07560-MONOMER

BRENDA Comprehensive Enzyme Information System

More...
BRENDAi
1.14.99.9 2681

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-193048 Androgen biosynthesis
R-HSA-194002 Glucocorticoid biosynthesis
R-HSA-211976 Endogenous sterols
R-HSA-5579028 Defective CYP17A1 causes Adrenal hyperplasia 5 (AH5)

SABIO-RK: Biochemical Reaction Kinetics Database

More...
SABIO-RKi
P05093

SIGNOR Signaling Network Open Resource

More...
SIGNORi
P05093

UniPathway: a resource for the exploration and annotation of metabolic pathways

More...
UniPathwayi
UPA00062

Chemistry databases

SwissLipids knowledge resource for lipid biology

More...
SwissLipidsi
SLP:000001611

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Steroid 17-alpha-hydroxylase/17,20 lyase (EC:1.14.14.191 Publication)
Alternative name(s):
17-alpha-hydroxyprogesterone aldolase (EC:1.14.14.321 Publication)
CYPXVII
Cytochrome P450 17A1
Cytochrome P450-C17
Short name:
Cytochrome P450c17
Steroid 17-alpha-monooxygenase
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:CYP17A1
Synonyms:CYP17, S17AH
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 10

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000148795.5

Human Gene Nomenclature Database

More...
HGNCi
HGNC:2593 CYP17A1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
609300 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P05093

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Adrenal hyperplasia 5 (AH5)19 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of congenital adrenal hyperplasia, a common recessive disease due to defective synthesis of cortisol. Congenital adrenal hyperplasia is characterized by androgen excess leading to ambiguous genitalia in affected females, rapid somatic growth during childhood in both sexes with premature closure of the epiphyses and short adult stature. Four clinical types: 'salt wasting' (SW, the most severe type), 'simple virilizing' (SV, less severely affected patients), with normal aldosterone biosynthesis, 'non-classic form' or late-onset (NC or LOAH) and 'cryptic' (asymptomatic).
See also OMIM:202110
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_02274535P → L in AH5; 38% 17alpha-hydroxylase activity and 33% 17,20-lyase activity. 1 Publication1
Natural variantiVAR_00127053Missing in AH5; 10% 17alpha-hydroxylase activity and 13% 17,20-lyase activity. 3 Publications1
Natural variantiVAR_00127164Y → S in AH5. 1 Publication1
Natural variantiVAR_01314793F → C in AH5. 1 PublicationCorresponds to variant dbSNP:rs104894146EnsemblClinVar.1
Natural variantiVAR_07304396R → Q in AH5. 1 PublicationCorresponds to variant dbSNP:rs104894153EnsemblClinVar.1
Natural variantiVAR_02274696R → W in AH5; 25% of both 17alpha-hydroxylase and 17,20-lyase activities. 3 PublicationsCorresponds to variant dbSNP:rs104894138EnsemblClinVar.1
Natural variantiVAR_001272106S → P in AH5. 1 PublicationCorresponds to variant dbSNP:rs104894135EnsemblClinVar.1
Natural variantiVAR_001273112I → II in AH5. 1 Publication1
Natural variantiVAR_022747114F → V in AH5. 1 PublicationCorresponds to variant dbSNP:rs104894147EnsemblClinVar.1
Natural variantiVAR_022748116D → V in AH5. 1 PublicationCorresponds to variant dbSNP:rs104894148EnsemblClinVar.1
Natural variantiVAR_073044121W → R in AH5; partial loss of activity. 1 Publication1
Natural variantiVAR_073045174A → E in AH5. 1 Publication1
Natural variantiVAR_022749177N → D in AH5; 10% 17alpha-hydroxylase and 17,20-lyase activities. 1 Publication1
Natural variantiVAR_022750329Y → D in AH5. 1 PublicationCorresponds to variant dbSNP:rs104894144EnsemblClinVar.1
Natural variantiVAR_022751330Missing in AH5; complete loss of both 17alpha-hydroxylase and 17,20-lyase activities. 1 Publication1
Natural variantiVAR_001274342P → T in AH5. 1 PublicationCorresponds to variant dbSNP:rs104894137EnsemblClinVar.1
Natural variantiVAR_022752347R → C in AH5. 1 PublicationCorresponds to variant dbSNP:rs104894149EnsemblClinVar.1
Natural variantiVAR_001275347R → H in AH5; selectively ablates 17,20-lyase activity, while preserving most 17alpha-hydroxylase activity. 3 PublicationsCorresponds to variant dbSNP:rs61754278EnsemblClinVar.1
Natural variantiVAR_001276358R → Q in AH5; selectively ablates 17,20-lyase activity, while preserving most 17alpha-hydroxylase activity. 2 PublicationsCorresponds to variant dbSNP:rs104894139EnsemblClinVar.1
Natural variantiVAR_022753362R → C in AH5. 1 PublicationCorresponds to variant dbSNP:rs104894142EnsemblClinVar.1
Natural variantiVAR_001277373H → L in AH5. 2 PublicationsCorresponds to variant dbSNP:rs760695410Ensembl.1
Natural variantiVAR_073046373H → N in AH5. 1 Publication1
Natural variantiVAR_073047406W → L in AH5; complete loss of both 17alpha-hydroxylase and 17,20-lyase activities. 1 Publication1
Natural variantiVAR_022754406W → R in AH5. 1 PublicationCorresponds to variant dbSNP:rs104894143EnsemblClinVar.1
Natural variantiVAR_022755417F → C in AH5; ablates both 17,20-lyase activity and 17alpha-hydroxylase activity; loss of heme-binding and loss of phosphorylation. 2 PublicationsCorresponds to variant dbSNP:rs104894140Ensembl.1
Natural variantiVAR_022756428P → L in AH5. 1 PublicationCorresponds to variant dbSNP:rs104894145EnsemblClinVar.1
Natural variantiVAR_001278440R → H in AH5. 1 PublicationCorresponds to variant dbSNP:rs777638364Ensembl.1
Natural variantiVAR_001279487 – 489Missing in AH5. 1 Publication3
Natural variantiVAR_001280496R → C in AH5. 1 Publication1
Natural variantiVAR_022757496R → H in AH5; 30% 17alpha-hydroxylase activity and 29% 17,20-lyase activity. 1 PublicationCorresponds to variant dbSNP:rs763398879Ensembl.1

Keywords - Diseasei

Congenital adrenal hyperplasia, Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
1586

MalaCards human disease database

More...
MalaCardsi
CYP17A1
MIMi202110 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000148795

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
90796 46,XY disorder of sex development due to isolated 17,20-lyase deficiency
90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA27090

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL3522

Drug and drug target database

More...
DrugBanki
DB05812 Abiraterone
DB04630 Aldosterone
DB01424 Aminophenazone
DB01234 Dexamethasone
DB02901 Dihydrotestosterone
DB01233 Metoclopramide
DB00157 NADH
DB00396 Progesterone

IUPHAR/BPS Guide to PHARMACOLOGY

More...
GuidetoPHARMACOLOGYi
1361

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
CYP17A1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
117283

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000519311 – 508Steroid 17-alpha-hydroxylase/17,20 lyaseAdd BLAST508

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Phosphorylation is necessary for 17,20-lyase, but not for 17-alpha-hydroxylase activity.1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
P05093

PeptideAtlas

More...
PeptideAtlasi
P05093

PRoteomics IDEntifications database

More...
PRIDEi
P05093

ProteomicsDB human proteome resource

More...
ProteomicsDBi
51789

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
P05093

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
P05093

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000148795 Expressed in 102 organ(s), highest expression level in adrenal gland

CleanEx database of gene expression profiles

More...
CleanExi
HS_CYP17A1

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
P05093 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
P05093 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA048533

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
107958, 14 interactors

Protein interaction database and analysis system

More...
IntActi
P05093, 13 interactors

Molecular INTeraction database

More...
MINTi
P05093

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000358903

Chemistry databases

BindingDB database of measured binding affinities

More...
BindingDBi
P05093

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1508
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
P05093

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
P05093

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the cytochrome P450 family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG0156 Eukaryota
COG2124 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000155588

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000036991

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG106944

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
P05093

KEGG Orthology (KO)

More...
KOi
K00512

Identification of Orthologs from Complete Genome Data

More...
OMAi
YGPIYSF

Database of Orthologous Groups

More...
OrthoDBi
EOG091G0BT8

Database for complete collections of gene phylogenies

More...
PhylomeDBi
P05093

TreeFam database of animal gene trees

More...
TreeFami
TF105095

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
1.10.630.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR001128 Cyt_P450
IPR017972 Cyt_P450_CS
IPR002401 Cyt_P450_E_grp-I
IPR036396 Cyt_P450_sf

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00067 p450, 1 hit

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR00463 EP450I
PR00385 P450

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF48264 SSF48264, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00086 CYTOCHROME_P450, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry has 1 described isoform and 4 potential isoforms that are computationally mapped.Show allAlign All

P05093-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MWELVALLLL TLAYLFWPKR RCPGAKYPKS LLSLPLVGSL PFLPRHGHMH
60 70 80 90 100
NNFFKLQKKY GPIYSVRMGT KTTVIVGHHQ LAKEVLIKKG KDFSGRPQMA
110 120 130 140 150
TLDIASNNRK GIAFADSGAH WQLHRRLAMA TFALFKDGDQ KLEKIICQEI
160 170 180 190 200
STLCDMLATH NGQSIDISFP VFVAVTNVIS LICFNTSYKN GDPELNVIQN
210 220 230 240 250
YNEGIIDNLS KDSLVDLVPW LKIFPNKTLE KLKSHVKIRN DLLNKILENY
260 270 280 290 300
KEKFRSDSIT NMLDTLMQAK MNSDNGNAGP DQDSELLSDN HILTTIGDIF
310 320 330 340 350
GAGVETTTSV VKWTLAFLLH NPQVKKKLYE EIDQNVGFSR TPTISDRNRL
360 370 380 390 400
LLLEATIREV LRLRPVAPML IPHKANVDSS IGEFAVDKGT EVIINLWALH
410 420 430 440 450
HNEKEWHQPD QFMPERFLNP AGTQLISPSV SYLPFGAGPR SCIGEILARQ
460 470 480 490 500
ELFLIMAWLL QRFDLEVPDD GQLPSLEGIP KVVFLIDSFK VKIKVRQAWR

EAQAEGST
Length:508
Mass (Da):57,371
Last modified:August 13, 1987 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iE5454E9E18F96B0E
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A1W2PRY0A0A1W2PRY0_HUMAN
Steroid 17-alpha-hydroxylase/17,20 ...
CYP17A1
407Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1W2PRK7A0A1W2PRK7_HUMAN
Steroid 17-alpha-hydroxylase/17,20 ...
CYP17A1
509Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1W2PQT5A0A1W2PQT5_HUMAN
Steroid 17-alpha-hydroxylase/17,20 ...
CYP17A1
479Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1W2PQ28A0A1W2PQ28_HUMAN
Steroid 17-alpha-hydroxylase/17,20 ...
CYP17A1
356Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01175522C → W. Corresponds to variant dbSNP:rs762563Ensembl.1
Natural variantiVAR_02274535P → L in AH5; 38% 17alpha-hydroxylase activity and 33% 17,20-lyase activity. 1 Publication1
Natural variantiVAR_00127053Missing in AH5; 10% 17alpha-hydroxylase activity and 13% 17,20-lyase activity. 3 Publications1
Natural variantiVAR_00127164Y → S in AH5. 1 Publication1
Natural variantiVAR_01314793F → C in AH5. 1 PublicationCorresponds to variant dbSNP:rs104894146EnsemblClinVar.1
Natural variantiVAR_07304396R → Q in AH5. 1 PublicationCorresponds to variant dbSNP:rs104894153EnsemblClinVar.1
Natural variantiVAR_02274696R → W in AH5; 25% of both 17alpha-hydroxylase and 17,20-lyase activities. 3 PublicationsCorresponds to variant dbSNP:rs104894138EnsemblClinVar.1
Natural variantiVAR_001272106S → P in AH5. 1 PublicationCorresponds to variant dbSNP:rs104894135EnsemblClinVar.1
Natural variantiVAR_001273112I → II in AH5. 1 Publication1
Natural variantiVAR_022747114F → V in AH5. 1 PublicationCorresponds to variant dbSNP:rs104894147EnsemblClinVar.1
Natural variantiVAR_022748116D → V in AH5. 1 PublicationCorresponds to variant dbSNP:rs104894148EnsemblClinVar.1
Natural variantiVAR_073044121W → R in AH5; partial loss of activity. 1 Publication1
Natural variantiVAR_073045174A → E in AH5. 1 Publication1
Natural variantiVAR_022749177N → D in AH5; 10% 17alpha-hydroxylase and 17,20-lyase activities. 1 Publication1
Natural variantiVAR_022750329Y → D in AH5. 1 PublicationCorresponds to variant dbSNP:rs104894144EnsemblClinVar.1
Natural variantiVAR_022751330Missing in AH5; complete loss of both 17alpha-hydroxylase and 17,20-lyase activities. 1 Publication1
Natural variantiVAR_001274342P → T in AH5. 1 PublicationCorresponds to variant dbSNP:rs104894137EnsemblClinVar.1
Natural variantiVAR_022752347R → C in AH5. 1 PublicationCorresponds to variant dbSNP:rs104894149EnsemblClinVar.1
Natural variantiVAR_001275347R → H in AH5; selectively ablates 17,20-lyase activity, while preserving most 17alpha-hydroxylase activity. 3 PublicationsCorresponds to variant dbSNP:rs61754278EnsemblClinVar.1
Natural variantiVAR_001276358R → Q in AH5; selectively ablates 17,20-lyase activity, while preserving most 17alpha-hydroxylase activity. 2 PublicationsCorresponds to variant dbSNP:rs104894139EnsemblClinVar.1
Natural variantiVAR_022753362R → C in AH5. 1 PublicationCorresponds to variant dbSNP:rs104894142EnsemblClinVar.1
Natural variantiVAR_001277373H → L in AH5. 2 PublicationsCorresponds to variant dbSNP:rs760695410Ensembl.1
Natural variantiVAR_073046373H → N in AH5. 1 Publication1
Natural variantiVAR_073047406W → L in AH5; complete loss of both 17alpha-hydroxylase and 17,20-lyase activities. 1 Publication1
Natural variantiVAR_022754406W → R in AH5. 1 PublicationCorresponds to variant dbSNP:rs104894143EnsemblClinVar.1
Natural variantiVAR_022755417F → C in AH5; ablates both 17,20-lyase activity and 17alpha-hydroxylase activity; loss of heme-binding and loss of phosphorylation. 2 PublicationsCorresponds to variant dbSNP:rs104894140Ensembl.1
Natural variantiVAR_022756428P → L in AH5. 1 PublicationCorresponds to variant dbSNP:rs104894145EnsemblClinVar.1
Natural variantiVAR_001278440R → H in AH5. 1 PublicationCorresponds to variant dbSNP:rs777638364Ensembl.1
Natural variantiVAR_001279487 – 489Missing in AH5. 1 Publication3
Natural variantiVAR_001280496R → C in AH5. 1 Publication1
Natural variantiVAR_022757496R → H in AH5; 30% 17alpha-hydroxylase activity and 29% 17,20-lyase activity. 1 PublicationCorresponds to variant dbSNP:rs763398879Ensembl.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
M14564 mRNA Translation: AAA52151.1
M19489 Genomic DNA Translation: AAA36405.1
M63871 Genomic DNA Translation: AAA59984.1
M31153
, M31146, M31147, M31148, M31149, M31150, M31151, M31152 Genomic DNA Translation: AAA52140.1 Sequence problems.
BT020000 mRNA Translation: AAV38803.1
AL358790 Genomic DNA No translation available.
BC062997 mRNA Translation: AAH62997.1
BC063388 mRNA Translation: AAH63388.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS7541.1

Protein sequence database of the Protein Information Resource

More...
PIRi
A40921 A26366

NCBI Reference Sequences

More...
RefSeqi
NP_000093.1, NM_000102.3

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.438016

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000369887; ENSP00000358903; ENSG00000148795

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
1586

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:1586

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

SHMPD

The Singapore human mutation and polymorphism database

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M14564 mRNA Translation: AAA52151.1
M19489 Genomic DNA Translation: AAA36405.1
M63871 Genomic DNA Translation: AAA59984.1
M31153
, M31146, M31147, M31148, M31149, M31150, M31151, M31152 Genomic DNA Translation: AAA52140.1 Sequence problems.
BT020000 mRNA Translation: AAV38803.1
AL358790 Genomic DNA No translation available.
BC062997 mRNA Translation: AAH62997.1
BC063388 mRNA Translation: AAH63388.1
CCDSiCCDS7541.1
PIRiA40921 A26366
RefSeqiNP_000093.1, NM_000102.3
UniGeneiHs.438016

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

More...
RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2C17model-A48-501[»]
3RUKX-ray2.60A/B/C/D24-508[»]
3SWZX-ray2.40A/B/C/D24-508[»]
4NKVX-ray2.65A/B/C/D24-508[»]
4NKWX-ray2.50A/B/C/D24-508[»]
4NKXX-ray2.79A/B/C/D24-508[»]
4NKYX-ray2.55A/B/C/D24-508[»]
4NKZX-ray3.00A/B/C/D24-508[»]
5IRQX-ray2.20A/B/C/D24-508[»]
5IRVX-ray3.10A/B/C/D24-508[»]
5UYSX-ray2.39A/B/C/D24-508[»]
6CHIX-ray2.70A/B/C/D24-508[»]
6CIRX-ray2.65A/B/C/D24-508[»]
6CIZX-ray2.60A/B/C/D24-508[»]
ProteinModelPortaliP05093
SMRiP05093
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107958, 14 interactors
IntActiP05093, 13 interactors
MINTiP05093
STRINGi9606.ENSP00000358903

Chemistry databases

BindingDBiP05093
ChEMBLiCHEMBL3522
DrugBankiDB05812 Abiraterone
DB04630 Aldosterone
DB01424 Aminophenazone
DB01234 Dexamethasone
DB02901 Dihydrotestosterone
DB01233 Metoclopramide
DB00157 NADH
DB00396 Progesterone
GuidetoPHARMACOLOGYi1361
SwissLipidsiSLP:000001611

PTM databases

iPTMnetiP05093
PhosphoSitePlusiP05093

Polymorphism and mutation databases

BioMutaiCYP17A1
DMDMi117283

Proteomic databases

PaxDbiP05093
PeptideAtlasiP05093
PRIDEiP05093
ProteomicsDBi51789

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
1586
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000369887; ENSP00000358903; ENSG00000148795
GeneIDi1586
KEGGihsa:1586

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
1586
DisGeNETi1586
EuPathDBiHostDB:ENSG00000148795.5

GeneCards: human genes, protein and diseases

More...
GeneCardsi
CYP17A1
HGNCiHGNC:2593 CYP17A1
HPAiHPA048533
MalaCardsiCYP17A1
MIMi202110 phenotype
609300 gene
neXtProtiNX_P05093
OpenTargetsiENSG00000148795
Orphaneti90796 46,XY disorder of sex development due to isolated 17,20-lyase deficiency
90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
PharmGKBiPA27090

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0156 Eukaryota
COG2124 LUCA
GeneTreeiENSGT00940000155588
HOGENOMiHOG000036991
HOVERGENiHBG106944
InParanoidiP05093
KOiK00512
OMAiYGPIYSF
OrthoDBiEOG091G0BT8
PhylomeDBiP05093
TreeFamiTF105095

Enzyme and pathway databases

UniPathwayi
UPA00062

BioCyciMetaCyc:HS07560-MONOMER
BRENDAi1.14.99.9 2681
ReactomeiR-HSA-193048 Androgen biosynthesis
R-HSA-194002 Glucocorticoid biosynthesis
R-HSA-211976 Endogenous sterols
R-HSA-5579028 Defective CYP17A1 causes Adrenal hyperplasia 5 (AH5)
SABIO-RKiP05093
SIGNORiP05093

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
CYP17A1 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
CYP17A1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
1586

Protein Ontology

More...
PROi
PR:P05093

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000148795 Expressed in 102 organ(s), highest expression level in adrenal gland
CleanExiHS_CYP17A1
ExpressionAtlasiP05093 baseline and differential
GenevisibleiP05093 HS

Family and domain databases

Gene3Di1.10.630.10, 1 hit
InterProiView protein in InterPro
IPR001128 Cyt_P450
IPR017972 Cyt_P450_CS
IPR002401 Cyt_P450_E_grp-I
IPR036396 Cyt_P450_sf
PfamiView protein in Pfam
PF00067 p450, 1 hit
PRINTSiPR00463 EP450I
PR00385 P450
SUPFAMiSSF48264 SSF48264, 1 hit
PROSITEiView protein in PROSITE
PS00086 CYTOCHROME_P450, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiCP17A_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P05093
Secondary accession number(s): Q5TZV7
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 13, 1987
Last sequence update: August 13, 1987
Last modified: December 5, 2018
This is version 209 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  7. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again