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P15538

- C11B1_HUMAN

UniProt

P15538 - C11B1_HUMAN

Protein

Cytochrome P450 11B1, mitochondrial

Gene

CYP11B1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 163 (01 Oct 2014)
      Sequence version 5 (25 Nov 2008)
      Previous versions | rss
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    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 + reduced adrenodoxin + O2 = an 11-beta-hydroxysteroid + oxidized adrenodoxin + H2O.

    Cofactori

    Heme group.By 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

    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_11047. Mineralocorticoid 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

    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 1.
    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

    ArrayExpressiP15538.
    BgeeiP15538.
    CleanExiHS_CYP11B1.
    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.
    HOGENOMiHOG000013161.
    HOVERGENiHBG051098.
    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

    MALRAKAEVC MAVPWLSLQR AQALGTRAAR VPRTVLPFEA MPRRPGNRWL    50
    RLLQIWREQG YEDLHLEVHQ TFQELGPIFR YDLGGAGMVC VMLPEDVEKL 100
    QQVDSLHPHR MSLEPWVAYR QHRGHKCGVF LLNGPEWRFN RLRLNPEVLS 150
    PNAVQRFLPM VDAVARDFSQ ALKKKVLQNA RGSLTLDVQP SIFHYTIEAS 200
    NLALFGERLG LVGHSPSSAS LNFLHALEVM FKSTVQLMFM PRSLSRWTSP 250
    KVWKEHFEAW DCIFQYGDNC IQKIYQELAF SRPQQYTSIV AELLLNAELS 300
    PDAIKANSME LTAGSVDTTV FPLLMTLFEL ARNPNVQQAL RQESLAAAAS 350
    ISEHPQKATT ELPLLRAALK ETLRLYPVGL FLERVASSDL VLQNYHIPAG 400
    TLVRVFLYSL GRNPALFPRP ERYNPQRWLD IRGSGRNFYH VPFGFGMRQC 450
    LGRRLAEAEM LLLLHHVLKH LQVETLTQED IKMVYSFILR PSMFPLLTFR 500
    AIN 503
    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:
    EMBL
    GenBank
    DDBJ
    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:
    EMBL
    GenBank
    DDBJ
    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 DB00648. Mitotane.
    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 1.
    PharmGKBi PA133.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG2124.
    HOGENOMi HOG000013161.
    HOVERGENi HBG051098.
    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_11047. Mineralocorticoid biosynthesis.
    REACT_13812. Endogenous sterols.

    Miscellaneous databases

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

    Gene expression databases

    ArrayExpressi P15538.
    Bgeei P15538.
    CleanExi HS_CYP11B1.
    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

    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: October 1, 2014
    This is version 163 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