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P15538

- C11B1_HUMAN

UniProt

P15538 - C11B1_HUMAN

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Protein

Cytochrome P450 11B1, mitochondrial

Gene

CYP11B1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

Has steroid 11-beta-hydroxylase activity. In addition to this activity, the 18 or 19-hydroxylation of steroids and the aromatization of androstendione to estrone have also been ascribed to cytochrome P450 XIB.

Catalytic activityi

A steroid + 2 reduced adrenodoxin + O2 + 2 H+ = an 11-beta- hydroxysteroid + 2 oxidized adrenodoxin + H2O.

Cofactori

hemeBy similarity

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Metal bindingi450 – 4501Iron (heme axial ligand)By similarity

GO - Molecular functioni

  1. heme binding Source: BHF-UCL
  2. iron ion binding Source: InterPro
  3. steroid 11-beta-monooxygenase activity Source: BHF-UCL

GO - Biological processi

  1. aldosterone biosynthetic process Source: UniProtKB
  2. C21-steroid hormone biosynthetic process Source: BHF-UCL
  3. cellular response to hormone stimulus Source: UniProtKB
  4. cellular response to potassium ion Source: UniProtKB
  5. cortisol biosynthetic process Source: UniProtKB
  6. glucocorticoid biosynthetic process Source: Reactome
  7. glucose homeostasis Source: BHF-UCL
  8. immune response Source: BHF-UCL
  9. mineralocorticoid biosynthetic process Source: Reactome
  10. regulation of blood pressure Source: BHF-UCL
  11. small molecule metabolic process Source: Reactome
  12. steroid metabolic process Source: Reactome
  13. sterol metabolic process Source: Reactome
  14. xenobiotic metabolic process Source: Reactome
Complete GO annotation...

Keywords - Molecular functioni

Monooxygenase, Oxidoreductase

Keywords - Biological processi

Lipid metabolism, Steroid metabolism, Steroidogenesis

Keywords - Ligandi

Heme, Iron, Metal-binding

Enzyme and pathway databases

BioCyciMetaCyc:HS08547-MONOMER.
BRENDAi1.14.15.4. 2681.
ReactomeiREACT_11036. Glucocorticoid biosynthesis.
REACT_13812. Endogenous sterols.

Names & Taxonomyi

Protein namesi
Recommended name:
Cytochrome P450 11B1, mitochondrial
Alternative name(s):
CYPXIB1
Cytochrome P-450c11
Short name:
Cytochrome P450C11
Steroid 11-beta-hydroxylase (EC:1.14.15.4)
Gene namesi
Name:CYP11B1
Synonyms:S11BH
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 8

Organism-specific databases

HGNCiHGNC:2591. CYP11B1.

Subcellular locationi

GO - Cellular componenti

  1. mitochondrial inner membrane Source: BHF-UCL
  2. mitochondrion Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Membrane, Mitochondrion

Pathology & Biotechi

Involvement in diseasei

Adrenal hyperplasia 4 (AH4) [MIM:202010]: A 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).5 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti42 – 421P → S in AH4; non-classic. 1 Publication
VAR_001260
Natural varianti94 – 941P → L in AH4. 1 Publication
VAR_065666
Natural varianti133 – 1331N → H in AH4; non-classic. 1 Publication
VAR_001261
Natural varianti318 – 3181T → M in AH4.
VAR_001262
Natural varianti318 – 3181T → R in AH4. 1 Publication
VAR_065667
Natural varianti319 – 3191T → M in AH4; non-classic. 1 Publication
VAR_001263
Natural varianti374 – 3741R → Q in AH4.
VAR_001264
Natural varianti379 – 3791G → V in AH4. 1 Publication
VAR_065196
Natural varianti448 – 4481R → H in AH4. 2 Publications
Corresponds to variant rs28934586 [ dbSNP | Ensembl ].
VAR_001265
Natural varianti454 – 4541R → C in AH4. 1 Publication
VAR_065197
Familial hyperaldosteronism 1 (FH1) [MIM:103900]: A disorder characterized by hypertension, variable hyperaldosteronism, and abnormal adrenal steroid production, including 18-oxocortisol and 18-hydroxycortisol. There is significant phenotypic heterogeneity, and some individuals never develop hypertension.
Note: The disease is caused by mutations affecting the gene represented in this entry. The molecular defect causing hyperaldosteronism familial 1 is an anti-Lepore-type fusion of the CYP11B1 and CYP11B2 genes. The hybrid gene has the promoting part of CYP11B1, ACTH-sensitive, and the coding part of CYP11B2.

Keywords - Diseasei

Congenital adrenal hyperplasia, Disease mutation

Organism-specific databases

MIMi103900. phenotype.
202010. phenotype.
Orphaneti90795. Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency.
403. Familial hyperaldosteronism type I.
PharmGKBiPA133.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transit peptidei1 – 2424MitochondrionAdd
BLAST
Chaini25 – 503479Cytochrome P450 11B1, mitochondrialPRO_0000003596Add
BLAST

Proteomic databases

PaxDbiP15538.
PRIDEiP15538.

PTM databases

PhosphoSiteiP15538.

Expressioni

Gene expression databases

BgeeiP15538.
CleanExiHS_CYP11B1.
ExpressionAtlasiP15538. baseline and differential.
GenevestigatoriP15538.

Organism-specific databases

HPAiHPA049171.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000292427.

Structurei

3D structure databases

ProteinModelPortaliP15538.
SMRiP15538. Positions 34-502.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the cytochrome P450 family.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiCOG2124.
GeneTreeiENSGT00760000119243.
HOGENOMiHOG000013161.
HOVERGENiHBG051098.
InParanoidiP15538.
KOiK00497.
PhylomeDBiP15538.
TreeFamiTF105094.

Family and domain databases

Gene3Di1.10.630.10. 1 hit.
InterProiIPR001128. Cyt_P450.
IPR017972. Cyt_P450_CS.
IPR002399. Cyt_P450_mitochondrial.
[Graphical view]
PfamiPF00067. p450. 1 hit.
[Graphical view]
PRINTSiPR00408. MITP450.
PR00385. P450.
SUPFAMiSSF48264. SSF48264. 1 hit.
PROSITEiPS00086. CYTOCHROME_P450. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: P15538-1) [UniParc]FASTAAdd to Basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MALRAKAEVC MAVPWLSLQR AQALGTRAAR VPRTVLPFEA MPRRPGNRWL
60 70 80 90 100
RLLQIWREQG YEDLHLEVHQ TFQELGPIFR YDLGGAGMVC VMLPEDVEKL
110 120 130 140 150
QQVDSLHPHR MSLEPWVAYR QHRGHKCGVF LLNGPEWRFN RLRLNPEVLS
160 170 180 190 200
PNAVQRFLPM VDAVARDFSQ ALKKKVLQNA RGSLTLDVQP SIFHYTIEAS
210 220 230 240 250
NLALFGERLG LVGHSPSSAS LNFLHALEVM FKSTVQLMFM PRSLSRWTSP
260 270 280 290 300
KVWKEHFEAW DCIFQYGDNC IQKIYQELAF SRPQQYTSIV AELLLNAELS
310 320 330 340 350
PDAIKANSME LTAGSVDTTV FPLLMTLFEL ARNPNVQQAL RQESLAAAAS
360 370 380 390 400
ISEHPQKATT ELPLLRAALK ETLRLYPVGL FLERVASSDL VLQNYHIPAG
410 420 430 440 450
TLVRVFLYSL GRNPALFPRP ERYNPQRWLD IRGSGRNFYH VPFGFGMRQC
460 470 480 490 500
LGRRLAEAEM LLLLHHVLKH LQVETLTQED IKMVYSFILR PSMFPLLTFR

AIN
Length:503
Mass (Da):57,573
Last modified:November 25, 2008 - v5
Checksum:i0B36D82513960EE9
GO
Isoform 2 (identifier: P15538-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     401-466: Missing.

Note: No experimental confirmation available.

Show »
Length:437
Mass (Da):49,750
Checksum:iF85180BFB83C9B5A
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti10 – 101C → Y.1 Publication
Corresponds to variant rs6405 [ dbSNP | Ensembl ].
VAR_014145
Natural varianti42 – 421P → S in AH4; non-classic. 1 Publication
VAR_001260
Natural varianti43 – 431R → Q.3 Publications
Corresponds to variant rs4534 [ dbSNP | Ensembl ].
VAR_014146
Natural varianti63 – 631D → H.
Corresponds to variant rs5282 [ dbSNP | Ensembl ].
VAR_014638
Natural varianti94 – 941P → L in AH4. 1 Publication
VAR_065666
Natural varianti133 – 1331N → H in AH4; non-classic. 1 Publication
VAR_001261
Natural varianti160 – 1601M → I.1 Publication
Corresponds to variant rs5287 [ dbSNP | Ensembl ].
VAR_014147
Natural varianti173 – 1731K → R.
Corresponds to variant rs4539 [ dbSNP | Ensembl ].
VAR_014639
Natural varianti248 – 2481T → I.
Corresponds to variant rs34620645 [ dbSNP | Ensembl ].
VAR_048462
Natural varianti257 – 2571F → L.
Corresponds to variant rs5288 [ dbSNP | Ensembl ].
VAR_014640
Natural varianti281 – 2811S → N.
Corresponds to variant rs5291 [ dbSNP | Ensembl ].
VAR_014641
Natural varianti293 – 2931L → V.1 Publication
Corresponds to variant rs5292 [ dbSNP | Ensembl ].
VAR_014148
Natural varianti318 – 3181T → M in AH4.
VAR_001262
Natural varianti318 – 3181T → R in AH4. 1 Publication
VAR_065667
Natural varianti319 – 3191T → M in AH4; non-classic. 1 Publication
VAR_001263
Natural varianti348 – 3481A → T.1 Publication
Corresponds to variant rs6407 [ dbSNP | Ensembl ].
VAR_014149
Natural varianti374 – 3741R → Q in AH4.
VAR_001264
Natural varianti379 – 3791G → V in AH4. 1 Publication
VAR_065196
Natural varianti386 – 3861A → V.3 Publications
Corresponds to variant rs4541 [ dbSNP | Ensembl ].
VAR_014150
Natural varianti404 – 4041R → H.
Corresponds to variant rs4998896 [ dbSNP | Ensembl ].
VAR_048463
Natural varianti439 – 4391Y → H.
Corresponds to variant rs5294 [ dbSNP | Ensembl ].
VAR_014642
Natural varianti448 – 4481R → H in AH4. 2 Publications
Corresponds to variant rs28934586 [ dbSNP | Ensembl ].
VAR_001265
Natural varianti454 – 4541R → C in AH4. 1 Publication
VAR_065197
Natural varianti494 – 4941F → C.2 Publications
VAR_008687

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei401 – 46666Missing in isoform 2. 1 PublicationVSP_043308Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M32879, M32863, M32878 Genomic DNA. Translation: AAA52149.1.
X55764 mRNA. Translation: CAA39290.1.
D16153 Genomic DNA. Translation: BAB71992.1.
D16155 Genomic DNA. Translation: BAA03717.1.
EU332839 Genomic DNA. Translation: ABY87528.1.
AC083841 Genomic DNA. No translation available.
CH471162 Genomic DNA. Translation: EAW82293.1.
BC096286 mRNA. Translation: AAH96286.1.
BC096287 mRNA. Translation: AAH96287.1.
M24667 mRNA. Translation: AAA52148.1. Sequence problems.
D10169 Genomic DNA. Translation: BAA01039.1.
CCDSiCCDS34953.1. [P15538-2]
CCDS6392.1. [P15538-1]
PIRiS11338.
RefSeqiNP_000488.3. NM_000497.3. [P15538-1]
NP_001021384.1. NM_001026213.1. [P15538-2]
UniGeneiHs.184927.

Genome annotation databases

EnsembliENST00000292427; ENSP00000292427; ENSG00000160882. [P15538-1]
ENST00000517471; ENSP00000428043; ENSG00000160882. [P15538-2]
GeneIDi1584.
KEGGihsa:1584.
UCSCiuc003yxi.3. human. [P15538-1]
uc003yxj.3. human. [P15538-2]

Polymorphism databases

DMDMi215274267.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M32879 , M32863 , M32878 Genomic DNA. Translation: AAA52149.1 .
X55764 mRNA. Translation: CAA39290.1 .
D16153 Genomic DNA. Translation: BAB71992.1 .
D16155 Genomic DNA. Translation: BAA03717.1 .
EU332839 Genomic DNA. Translation: ABY87528.1 .
AC083841 Genomic DNA. No translation available.
CH471162 Genomic DNA. Translation: EAW82293.1 .
BC096286 mRNA. Translation: AAH96286.1 .
BC096287 mRNA. Translation: AAH96287.1 .
M24667 mRNA. Translation: AAA52148.1 . Sequence problems.
D10169 Genomic DNA. Translation: BAA01039.1 .
CCDSi CCDS34953.1. [P15538-2 ]
CCDS6392.1. [P15538-1 ]
PIRi S11338.
RefSeqi NP_000488.3. NM_000497.3. [P15538-1 ]
NP_001021384.1. NM_001026213.1. [P15538-2 ]
UniGenei Hs.184927.

3D structure databases

ProteinModelPortali P15538.
SMRi P15538. Positions 34-502.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

STRINGi 9606.ENSP00000292427.

Chemistry

BindingDBi P15538.
ChEMBLi CHEMBL1908.
DrugBanki DB00501. Cimetidine.
DB00257. Clotrimazole.
DB00292. Etomidate.
DB00196. Fluconazole.
DB00741. Hydrocortisone.
DB01026. Ketoconazole.
DB01233. Metoclopramide.
DB01011. Metyrapone.
DB01110. Miconazole.
DB00648. Mitotane.
DB00252. Phenytoin.
DB00421. Spironolactone.
GuidetoPHARMACOLOGYi 1359.

PTM databases

PhosphoSitei P15538.

Polymorphism databases

DMDMi 215274267.

Proteomic databases

PaxDbi P15538.
PRIDEi P15538.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000292427 ; ENSP00000292427 ; ENSG00000160882 . [P15538-1 ]
ENST00000517471 ; ENSP00000428043 ; ENSG00000160882 . [P15538-2 ]
GeneIDi 1584.
KEGGi hsa:1584.
UCSCi uc003yxi.3. human. [P15538-1 ]
uc003yxj.3. human. [P15538-2 ]

Organism-specific databases

CTDi 1584.
GeneCardsi GC08M143950.
HGNCi HGNC:2591. CYP11B1.
HPAi HPA049171.
MIMi 103900. phenotype.
202010. phenotype.
610613. gene.
neXtProti NX_P15538.
Orphaneti 90795. Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency.
403. Familial hyperaldosteronism type I.
PharmGKBi PA133.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG2124.
GeneTreei ENSGT00760000119243.
HOGENOMi HOG000013161.
HOVERGENi HBG051098.
InParanoidi P15538.
KOi K00497.
PhylomeDBi P15538.
TreeFami TF105094.

Enzyme and pathway databases

BioCyci MetaCyc:HS08547-MONOMER.
BRENDAi 1.14.15.4. 2681.
Reactomei REACT_11036. Glucocorticoid biosynthesis.
REACT_13812. Endogenous sterols.

Miscellaneous databases

ChiTaRSi CYP11B1. human.
GeneWikii Steroid_11-beta-hydroxylase.
GenomeRNAii 1584.
NextBioi 6509.
PROi P15538.
SOURCEi Search...

Gene expression databases

Bgeei P15538.
CleanExi HS_CYP11B1.
ExpressionAtlasi P15538. baseline and differential.
Genevestigatori P15538.

Family and domain databases

Gene3Di 1.10.630.10. 1 hit.
InterProi IPR001128. Cyt_P450.
IPR017972. Cyt_P450_CS.
IPR002399. Cyt_P450_mitochondrial.
[Graphical view ]
Pfami PF00067. p450. 1 hit.
[Graphical view ]
PRINTSi PR00408. MITP450.
PR00385. P450.
SUPFAMi SSF48264. SSF48264. 1 hit.
PROSITEi PS00086. CYTOCHROME_P450. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Characterization of two genes encoding human steroid 11 beta-hydroxylase (P-450(11) beta)."
    Mornet E., Dupont J., Vitek A., White P.C.
    J. Biol. Chem. 264:20961-20967(1989) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT CYS-494.
  2. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), PARTIAL PROTEIN SEQUENCE, VARIANTS GLN-43 AND VAL-386.
  3. NHLBI resequencing and genotyping service (RS&G)
    Submitted (DEC-2007) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  4. "DNA sequence and analysis of human chromosome 8."
    Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M., Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S., Asakawa T.
    , Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A., Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III, Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K., Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P., Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H., Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B., O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K., Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L., Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G., Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W., Platzer M., Shimizu N., Lander E.S.
    Nature 439:331-335(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
  7. "A nonsense mutation (TGG [Trp116]-->TAG [Stop]) in CYP11B1 causes steroid 11 beta-hydroxylase deficiency."
    Naiki Y., Kawamoto T., Mitsuuchi Y., Miyahara K., Toda K., Orii T., Imura H., Shizuta Y.
    J. Clin. Endocrinol. Metab. 77:1677-1682(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-132.
    Tissue: Peripheral blood.
  8. Cited for: PRELIMINARY NUCLEOTIDE SEQUENCE [MRNA] OF 216-466, VARIANT VAL-386.
  9. "Role of steroid 11 beta-hydroxylase and steroid 18-hydroxylase in the biosynthesis of glucocorticoids and mineralocorticoids in humans."
    Kawamoto T., Mitsuuchi Y., Toda K., Yokoyama Y., Miyahara K., Miura S., Ohnishi T., Icikawa Y., Nakao K., Imura H., Ulick S., Shuzuta Y.
    Proc. Natl. Acad. Sci. U.S.A. 89:1458-1462(1992) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-30.
  10. "A mutation in CYP11B1 (Arg-448-->His) associated with steroid 11 beta-hydroxylase deficiency in Jews of Moroccan origin."
    White P.C., Dupont J., New M.I., Leiberman E., Hochberg Z., Roesler A.
    J. Clin. Invest. 87:1664-1667(1991) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT AH4 HIS-448.
  11. "CYP11B1 mutations causing non-classic adrenal hyperplasia due to 11 beta-hydroxylase deficiency."
    Joehrer K., Geley S., Strasser-Wozak E.M.C., Azziz R., Wollmann H.A., Schmitt K., Kofler R., White P.C.
    Hum. Mol. Genet. 6:1829-1834(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS AH4 SER-42; HIS-133 AND MET-319.
  12. "The C494F variant in the CYP11B1 gene is a sequence polymorphism in the Spanish population."
    Loidi L., Quinteiro C., Barros F., Dominguez F., Barreiro J., Pombo M.
    J. Clin. Endocrinol. Metab. 84:4749-4749(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT CYS-494.
  13. Cited for: VARIANTS TYR-10; GLN-43; THR-348 AND VAL-386.
  14. "Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis."
    Halushka M.K., Fan J.-B., Bentley K., Hsie L., Shen N., Weder A., Cooper R., Lipshutz R., Chakravarti A.
    Nat. Genet. 22:239-247(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS GLN-43; ILE-160 AND VAL-293.
  15. "21-Hydroxylase and 11beta-hydroxylase mutations in Romanian patients with classic congenital adrenal hyperplasia."
    Grigorescu Sido A., Weber M.M., Grigorescu Sido P., Clausmeyer S., Heinrich U., Schulze E.
    J. Clin. Endocrinol. Metab. 90:5769-5773(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS AH4 LEU-94; ARG-318 AND HIS-448.
  16. "Only two mutations detected in 15 Tunisian patients with 11beta-hydroxylase deficiency: the p.Q356X and the novel p.G379V."
    Kharrat M., Trabelsi S., Chaabouni M., Maazoul F., Kraoua L., Ben Jemaa L., Gandoura N., Barsaoui S., Morel Y., M'rad R., Chaabouni H.
    Clin. Genet. 78:398-401(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT AH4 VAL-379.
  17. "Novel homozygous p.R454C mutation in the CYP11B1 gene leads to 11beta-hydroxylase deficiency in a Chinese patient."
    Wu C., Zhou Q., Wan L., Ni L., Zheng C., Qian Y., Jin J.
    Fertil. Steril. 95:1122-1122(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT AH4 CYS-454.

Entry informationi

Entry nameiC11B1_HUMAN
AccessioniPrimary (citable) accession number: P15538
Secondary accession number(s): Q14095
, Q4VAQ8, Q4VAQ9, Q9UML2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 1, 1990
Last sequence update: November 25, 2008
Last modified: November 26, 2014
This is version 165 of the entry and version 5 of the sequence. [Complete history]
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3