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CYP11B1 (cytochrome P450 family 11 subfamily B member 1)

Gene

1584

Cytochrome P450 family 11 subfamily B member 1

CYP11B1

CPN1, CYP11B, FHI, P450C11

8q24.3

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 local

Show/Hide all(53)

SNP ID	Visualize variation	Clinical significance	Consequence
rs28934586	C>T	Likely-pathogenic, pathogenic	Intron variant, coding sequence variant, missense variant
rs61751149	G>A,C,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, missense variant
rs61752766	T>C	Benign, uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs61752786	G>A,C,T	Benign, likely-pathogenic, likely-benign, benign-likely-benign	Coding sequence variant, synonymous variant, missense variant
rs104894061	G>A,C,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs104894062	C>G,T	Pathogenic	Coding sequence variant, missense variant
rs104894066	C>T	Pathogenic	Coding sequence variant, stop gained
rs104894067	T>C,G	Pathogenic	Coding sequence variant, missense variant
rs104894068	G>A	Pathogenic	Coding sequence variant, missense variant
rs104894069	G>A	Not-provided, pathogenic	Coding sequence variant, missense variant
rs104894070	G>A,T	Not-provided, pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs104894071	G>T	Pathogenic	Coding sequence variant, missense variant
rs140336749	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs146124466	G>A	Pathogenic	Coding sequence variant, stop gained
rs193922538	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs193922539	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs193922540	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs193922541	A>G	Likely-pathogenic	Splice donor variant
rs267606755	A>C	Pathogenic-likely-pathogenic	Stop gained, intron variant, coding sequence variant
rs367634557	C>T	Likely-pathogenic	Missense variant, intron variant, coding sequence variant
rs387907572	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs387907573	A>G,T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs577022490	A>G,T	Likely-pathogenic	Splice donor variant, intron variant
rs748867146	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs753774484	C>A,G,T	Likely-pathogenic	Coding sequence variant, synonymous variant
rs760880418	G>A,T	Likely-pathogenic	Synonymous variant, coding sequence variant, stop gained
rs763195324	G>A,T	Likely-pathogenic	Missense variant, coding sequence variant, stop gained
rs764418169	CCAGGCTCATCCTGTGGGGATGCAGGCT>-	Pathogenic	Frameshift variant, coding sequence variant
rs764598023	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs768007725	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs775128501	->GTGTACTGTTG	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs779103938	C>T	Pathogenic-likely-pathogenic, likely-pathogenic	Missense variant, intron variant, coding sequence variant
rs866430018	C>T	Pathogenic	Stop gained, coding sequence variant
rs1131691992	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1249087390	G>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1256580853	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1264073726	C>T	Pathogenic, likely-pathogenic	Splice donor variant
rs1326688256	G>A,C	Likely-pathogenic	Coding sequence variant, missense variant
rs1365173817	C>A,T	Pathogenic	Intron variant
rs1379392398	->T	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1383321200	C>G,T	Likely-pathogenic	Stop gained, coding sequence variant, missense variant
rs1456715954	C>T	Likely-pathogenic	Splice acceptor variant
rs1554652650	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1554652990	C>G	Likely-pathogenic	Splice donor variant
rs1554652998	C>T	Pathogenic	Coding sequence variant, stop gained
rs1554652999	C>T	Pathogenic	Coding sequence variant, stop gained
rs1554653514	C>G	Likely-pathogenic	Splice donor variant
rs1554653520	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554653551	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1554653675	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1554653714	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1563867899	G>A	Pathogenic	Coding sequence variant, intron variant, missense variant
rs1586557065	T>C	Pathogenic	Intron variant

Show/Hide all(105)

miRTarBase ID	miRNA	Experiments	Reference
MIRT920376	hsa-miR-1915	CLIP-seq
MIRT920377	hsa-miR-2115	CLIP-seq
MIRT920378	hsa-miR-2355-5p	CLIP-seq
MIRT920379	hsa-miR-3177-3p	CLIP-seq
MIRT920380	hsa-miR-3183	CLIP-seq
MIRT920381	hsa-miR-3649	CLIP-seq
MIRT920382	hsa-miR-4287	CLIP-seq
MIRT920383	hsa-miR-4469	CLIP-seq
MIRT920384	hsa-miR-4685-3p	CLIP-seq
MIRT920385	hsa-miR-4723-3p	CLIP-seq
MIRT920386	hsa-miR-516a-3p	CLIP-seq
MIRT920387	hsa-miR-1225-5p	CLIP-seq
MIRT920388	hsa-miR-1226	CLIP-seq
MIRT920389	hsa-miR-1253	CLIP-seq
MIRT920390	hsa-miR-1299	CLIP-seq
MIRT920391	hsa-miR-1304	CLIP-seq
MIRT920392	hsa-miR-185	CLIP-seq
MIRT920393	hsa-miR-2682	CLIP-seq
MIRT920394	hsa-miR-299-3p	CLIP-seq
MIRT920395	hsa-miR-3074-5p	CLIP-seq
MIRT920396	hsa-miR-3124-3p	CLIP-seq
MIRT920397	hsa-miR-3184	CLIP-seq
MIRT920398	hsa-miR-3672	CLIP-seq
MIRT920399	hsa-miR-371-5p	CLIP-seq
MIRT920400	hsa-miR-371b-5p	CLIP-seq
MIRT920401	hsa-miR-3918	CLIP-seq
MIRT920402	hsa-miR-423-5p	CLIP-seq
MIRT920403	hsa-miR-4271	CLIP-seq
MIRT920404	hsa-miR-4279	CLIP-seq
MIRT920405	hsa-miR-4306	CLIP-seq
MIRT920406	hsa-miR-4475	CLIP-seq
MIRT920407	hsa-miR-4476	CLIP-seq
MIRT920408	hsa-miR-449c	CLIP-seq
MIRT920409	hsa-miR-4505	CLIP-seq
MIRT920410	hsa-miR-4639-3p	CLIP-seq
MIRT920411	hsa-miR-4644	CLIP-seq
MIRT920412	hsa-miR-4648	CLIP-seq
MIRT920413	hsa-miR-4654	CLIP-seq
MIRT920414	hsa-miR-4659a-3p	CLIP-seq
MIRT920415	hsa-miR-4659b-3p	CLIP-seq
MIRT920416	hsa-miR-4682	CLIP-seq
MIRT920417	hsa-miR-4725-3p	CLIP-seq
MIRT920418	hsa-miR-4733-3p	CLIP-seq
MIRT920419	hsa-miR-4769-5p	CLIP-seq
MIRT920420	hsa-miR-4778-3p	CLIP-seq
MIRT920421	hsa-miR-4782-5p	CLIP-seq
MIRT920422	hsa-miR-516b	CLIP-seq
MIRT920423	hsa-miR-548a-3p	CLIP-seq
MIRT920424	hsa-miR-548e	CLIP-seq
MIRT920425	hsa-miR-548f	CLIP-seq
MIRT920426	hsa-miR-625	CLIP-seq
MIRT920427	hsa-miR-940	CLIP-seq
MIRT1972754	hsa-miR-1197	CLIP-seq
MIRT1972755	hsa-miR-1224-5p	CLIP-seq
MIRT1972756	hsa-miR-1294	CLIP-seq
MIRT920390	hsa-miR-1299	CLIP-seq
MIRT1972757	hsa-miR-1321	CLIP-seq
MIRT1972758	hsa-miR-3120-3p	CLIP-seq
MIRT1972759	hsa-miR-3136-3p	CLIP-seq
MIRT1972760	hsa-miR-328	CLIP-seq
MIRT1972761	hsa-miR-3607-5p	CLIP-seq
MIRT1972762	hsa-miR-4269	CLIP-seq
MIRT1972763	hsa-miR-4316	CLIP-seq
MIRT1972764	hsa-miR-4514	CLIP-seq
MIRT1972765	hsa-miR-451b	CLIP-seq
MIRT920416	hsa-miR-4682	CLIP-seq
MIRT1972766	hsa-miR-4692	CLIP-seq
MIRT1972767	hsa-miR-4739	CLIP-seq
MIRT1972768	hsa-miR-4742-5p	CLIP-seq
MIRT1972769	hsa-miR-4751	CLIP-seq
MIRT1972770	hsa-miR-4756-5p	CLIP-seq
MIRT920421	hsa-miR-4782-5p	CLIP-seq
MIRT920422	hsa-miR-516b	CLIP-seq
MIRT1972771	hsa-miR-615-5p	CLIP-seq
MIRT1972772	hsa-miR-661	CLIP-seq
MIRT1972773	hsa-miR-875-3p	CLIP-seq
MIRT1972754	hsa-miR-1197	CLIP-seq
MIRT1972755	hsa-miR-1224-5p	CLIP-seq
MIRT1972756	hsa-miR-1294	CLIP-seq
MIRT1972758	hsa-miR-3120-3p	CLIP-seq
MIRT1972761	hsa-miR-3607-5p	CLIP-seq
MIRT2208427	hsa-miR-3692	CLIP-seq
MIRT1972763	hsa-miR-4316	CLIP-seq
MIRT1972765	hsa-miR-451b	CLIP-seq
MIRT1972769	hsa-miR-4751	CLIP-seq
MIRT2208428	hsa-miR-622	CLIP-seq
MIRT2208429	hsa-miR-938	CLIP-seq
MIRT2386633	hsa-miR-28-5p	CLIP-seq
MIRT2386634	hsa-miR-3139	CLIP-seq
MIRT2386635	hsa-miR-4283	CLIP-seq
MIRT2386636	hsa-miR-4489	CLIP-seq
MIRT2386637	hsa-miR-4492	CLIP-seq
MIRT2386638	hsa-miR-4498	CLIP-seq
MIRT2386639	hsa-miR-708	CLIP-seq
MIRT2386640	hsa-miR-762	CLIP-seq
MIRT2512288	hsa-miR-1254	CLIP-seq
MIRT2512289	hsa-miR-151-5p	CLIP-seq
MIRT2512290	hsa-miR-151b	CLIP-seq
MIRT2512291	hsa-miR-3116	CLIP-seq
MIRT2512292	hsa-miR-4254	CLIP-seq
MIRT2512288	hsa-miR-1254	CLIP-seq
MIRT2512289	hsa-miR-151-5p	CLIP-seq
MIRT2512290	hsa-miR-151b	CLIP-seq
MIRT2512291	hsa-miR-3116	CLIP-seq
MIRT2512292	hsa-miR-4254	CLIP-seq

Transcription factors

Show/Hide all(5)

Transcription factor	Regulation	Reference
ATF1	Unknown	11014212;11196473
ATF2	Unknown	11014212;11196473
CREB1	Unknown	11196473
NR5A1	Unknown	11014212
NR5A2	Activation	11564608

Show/Hide all(28)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004507	Function	Steroid 11-beta-monooxygenase activity	IBA	21873635
GO:0004507	Function	Steroid 11-beta-monooxygenase activity	IDA	2256920, 8506298
GO:0004507	Function	Steroid 11-beta-monooxygenase activity	IMP	2022736
GO:0005506	Function	Iron ion binding	IEA
GO:0005739	Component	Mitochondrion	IDA	2256920
GO:0005743	Component	Mitochondrial inner membrane	IBA	21873635
GO:0005743	Component	Mitochondrial inner membrane	IC	8506298
GO:0005743	Component	Mitochondrial inner membrane	TAS	15026188
GO:0006700	Process	C21-steroid hormone biosynthetic process	IBA	21873635
GO:0006700	Process	C21-steroid hormone biosynthetic process	IDA	2256920
GO:0006704	Process	Glucocorticoid biosynthetic process	IBA	21873635
GO:0006704	Process	Glucocorticoid biosynthetic process	TAS
GO:0006955	Process	Immune response	TAS	12452430
GO:0008203	Process	Cholesterol metabolic process	IBA	21873635
GO:0008217	Process	Regulation of blood pressure	IMP	2022736
GO:0016125	Process	Sterol metabolic process	TAS
GO:0020037	Function	Heme binding	IC	2256920
GO:0032342	Process	Aldosterone biosynthetic process	IBA	21873635
GO:0032342	Process	Aldosterone biosynthetic process	IDA	2256920
GO:0032342	Process	Aldosterone biosynthetic process	IMP	19342457
GO:0032870	Process	Cellular response to hormone stimulus	IEP	19342457
GO:0034650	Process	Cortisol metabolic process	IBA	21873635
GO:0034651	Process	Cortisol biosynthetic process	IDA	8506298
GO:0034651	Process	Cortisol biosynthetic process	IMP	2022736, 19342457
GO:0035865	Process	Cellular response to potassium ion	IEP	19342457
GO:0042593	Process	Glucose homeostasis	TAS	16114325
GO:0047783	Function	Corticosterone 18-monooxygenase activity	IBA	21873635
GO:0071375	Process	Cellular response to peptide hormone stimulus	IBA	21873635

MIM	HGNC	e!Ensembl
610613	2591	ENSG00000160882

Protein

UniProt ID

P15538

Protein name

Cytochrome P450 11B1, mitochondrial (CYP11B1) (CYPXIB1) (Cytochrome P-450c11) (Cytochrome P450C11) (Steroid 11-beta-hydroxylase, CYP11B1) (EC 1.14.15.4)

Protein function

A cytochrome P450 monooxygenase involved in the biosynthesis of adrenal corticoids (PubMed:12530636, PubMed:1518866, PubMed:1775135, PubMed:18215163, PubMed:23322723). Catalyzes a variety of reactions that are essential for many species, includi

PDB

6M7X , 7E7F

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00067	p450	42 → 498	Cytochrome P450	Domain

Sequence

MALRAKAEVCMAVPWLSLQRAQALGTRAARVPRTVLPFEAMPRRPGNRWLRLLQIWREQG
YEDLHLEVHQTFQELGPIFRYDLGGAGMVCVMLPEDVEKLQQVDSLHPHRMSLEPWVAYR
QHRGHKCGVFLLNGPEWRFNRLRLNPEVLSPNAVQRFLPMVDAVARDFSQALKKKVLQNA
RGSLTLDVQPSIFHYTIEASNLALFGERLGLVGHSPSSASLNFLHALEVMFKSTVQLMFM
PRSLSRWTSPKVWKEHFEAWDCIFQYGDNCIQKIYQELAFSRPQQYTSIVAELLLNAELS
PDAIKANSMELTAGSVDTTVFPLLMTLFELARNPNVQQALRQESLAAAASISEHPQKATT
ELPLLRAALKETLRLYPVGLFLERVASSDLVLQNYHIPAGTLVRVFLYSLGRNPALFPRP
ERYNPQRWLDIRGSGRNFYHVPFGFGMRQCLGRRLAEAEMLLLLHHVLKHLQVETLTQED
IKMVYSFILRPSMFPLLTFRAIN

Sequence length

503

Interactions

View interactions

	KEGG		Reactome
	Steroid hormone biosynthesis Metabolic pathways Cortisol synthesis and secretion Cushing syndrome		Glucocorticoid biosynthesis Endogenous sterols Defective CYP11B1 causes Adrenal hyperplasia 4 (AH4)

Associated diseases

Show/Hide Causal Diseases (5)

Causal
Disease name	Disease term	dbSNP ID	References
Congenital adrenal hyperplasia	Congenital adrenal hyperplasia, Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency	rs104894069, rs1365173817, rs104894070, rs556794126, rs104894138, rs104894139, rs104894149, rs104894142, rs104894153, rs6471, rs7769409, rs9378251, rs201552310, rs397509367, rs6445, rs387906510, rs1474566961, rs7755898, rs72552754, rs151344503, rs151344504, rs1582299448, rs1582302625, rs72552757, rs80358217, rs80358220, rs80358221, rs121912974, rs28931607, rs72552772, rs72552771, rs28931608, rs786205875, rs121912976, rs1554299737, rs193922538, rs193922539, rs193922541, rs387907572, rs267606756, rs786204728, rs886038207, rs753774484, rs1554304513, rs1554305880, rs1429901248, rs767128094, rs367634557, rs936203749, rs1563435458, rs754609778, rs1563867837, rs776989258, rs1582298980, rs1582309414, rs1582300748, rs781805159, rs782336856, rs373613946, rs770199817, rs1582304457, rs1582304536, rs1582305275, rs182942340, rs1582307951, rs1367112998, rs1582312633, rs779791105, rs72552758, rs1447069098	9302260, 8506298, 20331679, 23940125, 15751602, 28228528, 2022736, 16046588, 16670167, 24022297, 26265915, 18663314, 8964882, 24987415, 26053152, 15755848, 24334966, 26476331, 26066897, 8768848, 22964742, 20947076, 17371482, 11549691, 26280318, 24536089, 15807871, 25911436, 17726333, 26956189, 20089618, 9435454, 10487675
Cryptorchidism	Bilateral Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
Hyperaldosteronism	Hyperaldosteronism, Glucocorticoid-remediable aldosteronism, Familial hyperaldosteronism type I	rs28934586, rs104894068, rs387906778, rs386352319, rs587777437, rs587777438, rs587777439, rs786205050, rs771507094, rs1085307938, rs1553853557, rs1553856214, rs1293789661, rs1553857113, rs758379595	11085685, 24817817, 20634641, 11549691
Hypertension	Hypertensive disease	rs13306026, rs13333226
Osteoporosis	Osteoporosis	rs72658152, rs72667023, rs587776916, rs72656370, rs768615287

Show/Hide Unknown Diseases (16)

Unknown
Disease name	Disease term	dbSNP ID	References
11-beta-hydroxylase deficiency	11-Beta-hydroxylase deficiency
Adrenal hyperplasia	Adrenal hyperplasia
Adrenogenital syndrome	Adrenogenital Syndrome
Ambiguous genitalia	Ambiguous genitalia, female	rs782562963
Conn syndrome	Conn Syndrome		11085685
Dwarfism	Dwarfism
Ectopic adrenal gland	Ectopic adrenal gland
Enlarged polycystic ovaries	Enlarged polycystic ovaries
Female sexual dysfunction	Female sexual dysfunction
Gynecomastia	Gynecomastia
Hypernatriuria	Hypernatriuria
Hypertrophy of clitoris	Hypertrophy of clitoris
Hypoplasia of vagina	Hypoplasia of vagina
Premature adrenarche	Premature adrenarche
Secretory adrenocortical adenoma	Secretory adrenocortical adenoma
Stroke	Cerebrovascular accident

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