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HUMAN:CP17A

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Species (Taxon ID) Homo sapiens (Human). (9606)
Gene Name(s) CYP17A1 (synonyms: CYP17, S17AH)
Protein Name(s) Steroid 17-alpha-hydroxylase/17,20 lyase

17-alpha-hydroxyprogesterone aldolase CYPXVII Cytochrome P450 17A1 Cytochrome P450-C17 Cytochrome P450c17 Steroid 17-alpha-monooxygenase

External Links
UniProt P05093
EMBL M14564
M19489
M63871
M31153
M31146
M31147
M31148
M31149
M31150
M31151
M31152
BT020000
AL358790
BC062997
BC063388
CCDS CCDS7541.1
PIR A40921
RefSeq NP_000093.1
UniGene Hs.438016
PDB 2C17
3RUK
3SWZ
4NKV
4NKW
4NKX
4NKY
4NKZ
PDBsum 2C17
3RUK
3SWZ
4NKV
4NKW
4NKX
4NKY
4NKZ
ProteinModelPortal P05093
SMR P05093
BioGrid 107958
IntAct P05093
STRING 9606.ENSP00000358903
BindingDB P05093
ChEMBL CHEMBL3522
DrugBank DB05812
DB01424
DB01234
DB01233
DB00396
GuidetoPHARMACOLOGY 1361
PhosphoSite P05093
DMDM 117283
PaxDb P05093
PRIDE P05093
DNASU 1586
Ensembl ENST00000369887
GeneID 1586
KEGG hsa:1586
UCSC uc001kwg.3
CTD 1586
GeneCards GC10M104580
HGNC HGNC:2593
HPA HPA048533
MIM 202110
609300
neXtProt NX_P05093
Orphanet 90796
90793
PharmGKB PA27090
eggNOG COG2124
HOGENOM HOG000036991
HOVERGEN HBG106944
InParanoid P05093
KO K00512
OMA LFLIMAW
OrthoDB EOG7RBZ85
PhylomeDB P05093
TreeFam TF105095
BioCyc MetaCyc:HS07560-MONOMER
Reactome REACT_11036
REACT_11059
REACT_13812
SABIO-RK P05093
UniPathway UPA00062
ChiTaRS CYP17A1
GeneWiki CYP17A1
GenomeRNAi 1586
NextBio 6519
PRO PR:P05093
Proteomes UP000005640
Bgee P05093
CleanEx HS_CYP17A1
ExpressionAtlas P05093
Genevestigator P05093
GO GO:0030424
GO:0005783
GO:0005789
GO:0005739
GO:0043025
GO:0047442
GO:0020037
GO:0005506
GO:0019825
GO:0004508
GO:0030325
GO:0006702
GO:0018879
GO:0071236
GO:0071371
GO:0071222
GO:0018894
GO:0006704
GO:0021766
GO:0042446
GO:0033327
GO:0030728
GO:0018958
GO:0018963
GO:0090031
GO:0042448
GO:0010034
GO:0051591
GO:0034097
GO:0042493
GO:0060992
GO:0009635
GO:0017085
GO:0010212
GO:0051597
GO:0031667
GO:0032526
GO:0048545
GO:0007548
GO:0044281
GO:0006694
GO:0008202
GO:0016125
GO:0006805
Gene3D 1.10.630.10
InterPro IPR001128
IPR017972
IPR002401
Pfam PF00067
PRINTS PR00463
PR00385
SUPFAM SSF48264
PROSITE PS00086

Annotations

Qualifier GO ID GO term name Reference ECO ID ECO term name with/from Aspect Extension Notes Status

enables

GO:0047442

17-alpha-hydroxyprogesterone aldolase activity

PMID:24140098[1]

ECO:0000315

mutant phenotype evidence used in manual assertion

F

Seeded From UniProt

complete

enables

GO:0004508

steroid 17-alpha-monooxygenase activity

PMID:24140098[1]

ECO:0000315

mutant phenotype evidence used in manual assertion

F

Seeded From UniProt

complete

enables

GO:0004508

steroid 17-alpha-monooxygenase activity

PMID:22170710[2]

ECO:0000315

mutant phenotype evidence used in manual assertion

F

Seeded From UniProt

complete

part_of

GO:0005783

endoplasmic reticulum

PMID:9326943[3]

ECO:0000303

author statement without traceable support used in manual assertion

C

Seeded From UniProt

complete

involved_in

GO:0042448

progesterone metabolic process

PMID:22266943[4]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0042446

hormone biosynthetic process

PMID:22266943[4]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

enables

GO:0020037

heme binding

PMID:22266943[4]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

involved_in

GO:0008202

steroid metabolic process

PMID:22266943[4]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

enables

GO:0004508

steroid 17-alpha-monooxygenase activity

PMID:22266943[4]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

enables

GO:0047442

17-alpha-hydroxyprogesterone aldolase activity

PMID:21873635[5]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

PANTHER:PTN001209526
UniProtKB:P05093

F

Seeded From UniProt

complete

involved_in

GO:0042448

progesterone metabolic process

PMID:21873635[5]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

PANTHER:PTN001209526
UniProtKB:P05093

P

Seeded From UniProt

complete

involved_in

GO:0042446

hormone biosynthetic process

PMID:21873635[5]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

PANTHER:PTN001209526
UniProtKB:P05093

P

Seeded From UniProt

complete

enables

GO:0004508

steroid 17-alpha-monooxygenase activity

PMID:21873635[5]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

MGI:MGI:88586
PANTHER:PTN001209526
RGD:2456
UniProtKB:P05093
ZFIN:ZDB-GENE-040213-2

F

Seeded From UniProt

complete

part_of

GO:0043025

neuronal cell body

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P27786
ensembl:ENSMUSP00000026012

C

Seeded From UniProt

complete

part_of

GO:0030424

axon

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P27786
ensembl:ENSMUSP00000026012

C

Seeded From UniProt

complete

involved_in

GO:0006704

glucocorticoid biosynthetic process

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P27786
ensembl:ENSMUSP00000026012

P

Seeded From UniProt

complete

enables

GO:0004508

steroid 17-alpha-monooxygenase activity

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P27786
ensembl:ENSMUSP00000026012

F

Seeded From UniProt

complete

enables

GO:0005506

iron ion binding

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR001128
InterPro:IPR002401
InterPro:IPR036396

F

Seeded From UniProt

complete

enables

GO:0016705

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

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR001128
InterPro:IPR002401
InterPro:IPR017972
InterPro:IPR036396

F

Seeded From UniProt

complete

enables

GO:0020037

heme binding

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR001128
InterPro:IPR002401
InterPro:IPR036396

F

Seeded From UniProt

complete

involved_in

GO:0055114

oxidation-reduction process

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR001128
InterPro:IPR002401
InterPro:IPR017972
InterPro:IPR036396

P

Seeded From UniProt

complete

enables

GO:0019825

oxygen binding

PMID:2808364[6]

ECO:0000304

author statement supported by traceable reference used in manual assertion

F

Seeded From UniProt

complete

involved_in

GO:0007548

sex differentiation

PMID:9326943[3]

ECO:0000304

author statement supported by traceable reference used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0006694

steroid biosynthetic process

PMID:3500022[7]

ECO:0000304

author statement supported by traceable reference used in manual assertion

P

Seeded From UniProt

complete

enables

GO:0004508

steroid 17-alpha-monooxygenase activity

PMID:1347802[8]
Reactome:R-HSA-193099
Reactome:R-HSA-193072
Reactome:R-HSA-193070
Reactome:R-HSA-193068

ECO:0000304

author statement supported by traceable reference used in manual assertion





F

Seeded From UniProt

complete

involved_in

GO:0006704

glucocorticoid biosynthetic process

Reactome:R-HSA-194002

ECO:0000304

author statement supported by traceable reference used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0006702

androgen biosynthetic process

Reactome:R-HSA-193048

ECO:0000304

author statement supported by traceable reference used in manual assertion

P

Seeded From UniProt

complete

part_of

GO:0005789

endoplasmic reticulum membrane

Reactome:R-HSA-193099
Reactome:R-HSA-193072
Reactome:R-HSA-193070
Reactome:R-HSA-193068

ECO:0000304

author statement supported by traceable reference used in manual assertion




C

Seeded From UniProt

complete

part_of

GO:0016020

membrane

GO_REF:0000037
GO_REF:0000039

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0472
UniProtKB-SubCell:SL-0162

C

Seeded From UniProt

complete

involved_in

GO:0006694

steroid biosynthetic process

GO_REF:0000037
GO_REF:0000041

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0755
UniPathway:UPA00062

P

Seeded From UniProt

complete

enables

GO:0004497

monooxygenase activity

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0503

F

Seeded From UniProt

complete

involved_in

GO:0055114

oxidation-reduction process

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0560

P

Seeded From UniProt

complete

enables

GO:0046872

metal ion binding

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0479

F

Seeded From UniProt

complete

enables

GO:0016829

lyase activity

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0456

F

Seeded From UniProt

complete

enables

GO:0016491

oxidoreductase activity

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0560

F

Seeded From UniProt

complete

GO:0004508

steroid 17-alpha-monooxygenase activity

PMID:22170710[2]

ECO:0000315

F

Figure 3C. H44L, misense mutation in cytochrome b5 gene have severe deficiency in 17, 20 lyase activity compared to wild-type.

complete
CACAO 7430

edit table

Notes

References

See Help:References for how to manage references in GONUTS.

  1. ↑ 1.0 1.1 Kim, YM et al. (2014) A review of the literature on common CYP17A1 mutations in adults with 17-hydroxylase/17,20-lyase deficiency, a case series of such mutations among Koreans and functional characteristics of a novel mutation. Metab. Clin. Exp. 63 42-9 PubMed GONUTS page
  2. ↑ 2.0 2.1 Idkowiak, J et al. (2012) A missense mutation in the human cytochrome b5 gene causes 46,XY disorder of sex development due to true isolated 17,20 lyase deficiency. J. Clin. Endocrinol. Metab. 97 E465-75 PubMed GONUTS page
  3. ↑ 3.0 3.1 Geller, DH et al. (1997) The genetic and functional basis of isolated 17,20-lyase deficiency. Nat. Genet. 17 201-5 PubMed GONUTS page
  4. ↑ 4.0 4.1 4.2 4.3 4.4 DeVore, NM & Scott, EE (2012) Structures of cytochrome P450 17A1 with prostate cancer drugs abiraterone and TOK-001. Nature 482 116-9 PubMed GONUTS page
  5. ↑ 5.0 5.1 5.2 5.3 Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page
  6. ↑ Yanase, T et al. (1989) Deletion of a phenylalanine in the N-terminal region of human cytochrome P-450(17 alpha) results in partial combined 17 alpha-hydroxylase/17,20-lyase deficiency. J. Biol. Chem. 264 18076-82 PubMed GONUTS page
  7. ↑ Picado-Leonard, J & Miller, WL (1987) Cloning and sequence of the human gene for P450c17 (steroid 17 alpha-hydroxylase/17,20 lyase): similarity with the gene for P450c21. DNA 6 439-48 PubMed GONUTS page
  8. ↑ Krohn, K et al. (1992) Identification by molecular cloning of an autoantigen associated with Addison's disease as steroid 17 alpha-hydroxylase. Lancet 339 770-3 PubMed GONUTS page
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