P15538 (C11B1_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 149.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | 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 names |
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| Organism | Homo sapiens (Human) [Reference proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 503 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is further processed into a mature form. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | 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 activity | A steroid + reduced adrenal ferredoxin + O2 = an 11-beta-hydroxysteroid + oxidized adrenal ferredoxin + H2O. |
| Cofactor | Heme group By similarity. |
| Subcellular location | |
| Involvement in disease | 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). 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. |
| Sequence similarities | Belongs to the cytochrome P450 family. |
Ontologies
Alternative products
| This entry describes 2 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: P15538-1) 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. | ||||||
| Isoform 2 (identifier: P15538-2) The sequence of this isoform differs from the canonical sequence as follows: 401-466: Missing. | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Transit peptide | 1 – 24 | 24 | Mitochondrion | ||||||
| Chain | 25 – 503 | 479 | Cytochrome P450 11B1, mitochondrial | PRO_0000003596 | |||||
Sites | |||||||||
| Metal binding | 450 | 1 | Iron (heme axial ligand) By similarity | ||||||
Natural variations | |||||||||
| Alternative sequence | 401 – 466 | 66 | Missing in isoform 2. | VSP_043308 | |||||
| Natural variant | 10 | 1 | C → Y. Ref.13 Corresponds to variant rs6405 [ dbSNP | Ensembl ]. | VAR_014145 | |||||
| Natural variant | 42 | 1 | P → S in AH4; non-classic. Ref.11 | VAR_001260 | |||||
| Natural variant | 43 | 1 | R → Q. Ref.2 Ref.13 Ref.15 Corresponds to variant rs4534 [ dbSNP | Ensembl ]. | VAR_014146 | |||||
| Natural variant | 63 | 1 | D → H. Corresponds to variant rs5282 [ dbSNP | Ensembl ]. | VAR_014638 | |||||
| Natural variant | 94 | 1 | P → L in AH4. Ref.16 | VAR_065666 | |||||
| Natural variant | 133 | 1 | N → H in AH4; non-classic. Ref.11 | VAR_001261 | |||||
| Natural variant | 160 | 1 | M → I. Ref.15 Corresponds to variant rs5287 [ dbSNP | Ensembl ]. | VAR_014147 | |||||
| Natural variant | 173 | 1 | K → R. Corresponds to variant rs4539 [ dbSNP | Ensembl ]. | VAR_014639 | |||||
| Natural variant | 248 | 1 | T → I. Corresponds to variant rs34620645 [ dbSNP | Ensembl ]. | VAR_048462 | |||||
| Natural variant | 257 | 1 | F → L. Corresponds to variant rs5288 [ dbSNP | Ensembl ]. | VAR_014640 | |||||
| Natural variant | 281 | 1 | S → N. Corresponds to variant rs5291 [ dbSNP | Ensembl ]. | VAR_014641 | |||||
| Natural variant | 293 | 1 | L → V. Ref.15 Corresponds to variant rs5292 [ dbSNP | Ensembl ]. | VAR_014148 | |||||
| Natural variant | 318 | 1 | T → M in AH4. | VAR_001262 | |||||
| Natural variant | 318 | 1 | T → R in AH4. Ref.16 | VAR_065667 | |||||
| Natural variant | 319 | 1 | T → M in AH4; non-classic. Ref.11 | VAR_001263 | |||||
| Natural variant | 348 | 1 | A → T. Ref.13 Corresponds to variant rs6407 [ dbSNP | Ensembl ]. | VAR_014149 | |||||
| Natural variant | 374 | 1 | R → Q in AH4. | VAR_001264 | |||||
| Natural variant | 379 | 1 | G → V in AH4. Ref.17 | VAR_065196 | |||||
| Natural variant | 386 | 1 | A → V. Ref.2 Ref.8 Ref.13 Corresponds to variant rs4541 [ dbSNP | Ensembl ]. | VAR_014150 | |||||
| Natural variant | 404 | 1 | R → H. Corresponds to variant rs4998896 [ dbSNP | Ensembl ]. | VAR_048463 | |||||
| Natural variant | 439 | 1 | Y → H. Corresponds to variant rs5294 [ dbSNP | Ensembl ]. | VAR_014642 | |||||
| Natural variant | 448 | 1 | R → H in AH4. Ref.10 Ref.16 Corresponds to variant rs28934586 [ dbSNP | Ensembl ]. | VAR_001265 | |||||
| Natural variant | 454 | 1 | R → C in AH4. Ref.18 | VAR_065197 | |||||
| Natural variant | 494 | 1 | F → C. Ref.1 Ref.12 | VAR_008687 | |||||
Sequences
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References
| « Hide 'large scale' references | |
| [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] | "Cloning of cDNA and genomic DNA for human cytochrome P-45011 beta." Kawamoto T., Mitsuuchi Y., Toda K., Miyahara K., Yokoyama Y., Nakao K., Hosoda K., Yamamoto Y., Imura H., Shizuta Y. FEBS Lett. 269:345-349(1990) [PubMed] [Europe PMC] [Abstract] 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. Lander E.S.Nature 439:331-335(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [5] | Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. Venter J.C.Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases 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] | "Cloning of cDNA encoding steroid 11 beta-hydroxylase (P450c11)." Chua S.C., Szabo P., Vitek A., Grzeschik K.H., John M., White P.C. Proc. Natl. Acad. Sci. U.S.A. 84:7193-7197(1987) [PubMed] [Europe PMC] [Abstract] 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] | "Characterization of single-nucleotide polymorphisms in coding regions of human genes." Cargill M., Altshuler D., Ireland J., Sklar P., Ardlie K., Patil N., Shaw N., Lane C.R., Lim E.P., Kalyanaraman N., Nemesh J., Ziaugra L., Friedland L., Rolfe A., Warrington J., Lipshutz R., Daley G.Q., Lander E.S. Nat. Genet. 22:231-238(1999) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS TYR-10; GLN-43; THR-348 AND VAL-386. |
| [14] | Erratum Cargill M., Altshuler D., Ireland J., Sklar P., Ardlie K., Patil N., Shaw N., Lane C.R., Lim E.P., Kalyanaraman N., Nemesh J., Ziaugra L., Friedland L., Rolfe A., Warrington J., Lipshutz R., Daley G.Q., Lander E.S. Nat. Genet. 23:373-373(1999) |
| [15] | "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. |
| [16] | "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. |
| [17] | "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. |
| [18] | "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. |
| + | Additional computationally mapped references. |
Web resources
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | 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. |
| IPI | IPI00291348. |
| PIR | S11338. |
| RefSeq | NP_000488.3. NM_000497.3. NP_001021384.1. NM_001026213.1. |
| UniGene | Hs.184927. |
3D structure databases | |
| ProteinModelPortal | P15538. |
| ModBase | Search... |
Protein-protein interaction databases | |
| STRING | 9606.ENSP00000292427. |
PTM databases | |
| PhosphoSite | P15538. |
Polymorphism databases | |
| DMDM | 215274267. |
Proteomic databases | |
| PaxDb | P15538. |
| PRIDE | P15538. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000292427; ENSP00000292427; ENSG00000160882. ENST00000517471; ENSP00000428043; ENSG00000160882. |
| GeneID | 1584. |
| KEGG | hsa:1584. |
| UCSC | uc003yxi.3. human. |
Organism-specific databases | |
| CTD | 1584. |
| GeneCards | GC08M143950. |
| HGNC | HGNC:2591. CYP11B1. |
| HPA | HPA049171. |
| MIM | 103900. phenotype. 202010. phenotype. 610613. gene. |
| neXtProt | NX_P15538. |
| Orphanet | 90795. Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency. 403. Familial hyperaldosteronism type 1. |
| PharmGKB | PA133. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | COG2124. |
| HOGENOM | HOG000013161. |
| HOVERGEN | HBG051098. |
| KO | K00497. |
| PhylomeDB | P15538. |
Enzyme and pathway databases | |
| BioCyc | MetaCyc:HS08547-MONOMER. |
| BRENDA | 1.14.15.4. 2681. |
| Reactome | REACT_111217. Metabolism. REACT_15493. Steroid hormones. |
Gene expression databases | |
| ArrayExpress | P15538. |
| Bgee | P15538. |
| CleanEx | HS_CYP11B1. |
| Genevestigator | P15538. |
| GermOnline | ENSG00000160882. Homo sapiens. |
Family and domain databases | |
| Gene3D | 1.10.630.10. 1 hit. |
| InterPro | IPR001128. Cyt_P450. IPR017972. Cyt_P450_CS. IPR002399. Cyt_P450_mitochondrial. [Graphical view] |
| Pfam | PF00067. p450. 1 hit. [Graphical view] |
| PRINTS | PR00408. MITP450. PR00385. P450. |
| SUPFAM | SSF48264. Cytochrome_P450. 1 hit. |
| PROSITE | PS00086. CYTOCHROME_P450. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| BindingDB | P15538. |
| ChEMBL | CHEMBL1908. |
| DrugBank | DB00648. Mitotane. |
| GenomeRNAi | 1584. |
| NextBio | 6509. |
| SOURCE | Search... |
Entry information
| Entry name | C11B1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: P15538 Secondary accession number(s): Q14095 Q9UML2 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any 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. | ||||||||
Relevant documents
| Human chromosome 8 Human chromosome 8: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with
