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Index > Protein center > CYP11A1(Gene name) > Human
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  • CYP11A1 (Gene name),
  • Cholesterol side-chain cleavage enzyme, mitochondrial (Protein name ),  CP11A_HUMAN from NCBI database.
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  • General Annotation
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  • Antigen Annotation
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  • Gene name:
    CYP11A1(CYP11A);
    Protein name:
    Cholesterol side-chain cleavage enzyme, mitochondrial;
    Alternative:
    Cholesterol desmolase;CYPXIA1;Cytochrome P450(scc);Cytochrome P450 11A1;
    Organism:
    Human (Homo sapiens). 
    General Annotation
    Sub Unit:
    N/A
    Function:
    Catalyzes the side-chain cleavage reaction of cholesterol to pregnenolone.
    Subcellular Location:
    Mitochondrion membrane
    Protein Attributes:
    Sequence length:
    521
    Sequence:
    50:
    MLAKGLPPRS | VLVKGCQTFL | SAPREGLGRL | RVPTGEGAGI | STRSPRPFNE | 
    100:
    IPSPGDNGWL | NLYHFWRETG | THKVHLHHVQ | NFQKYGPIYR | EKLGNVESVY | 
    150:
    VIDPEDVALL | FKSEGPNPER | FLIPPWVAYH | QYYQRPIGVL | LKKSAAWKKD | 
    200:
    RVALNQEVMA | PEATKNFLPL | LDAVSRDFVS | VLHRRIKKAG | SGNYSGDISD | 
    250:
    DLFRFAFESI | TNVIFGERQG | MLEEVVNPEA | QRFIDAIYQM | FHTSVPMLNL | 
    300:
    PPDLFRLFRT | KTWKDHVAAW | DVIFSKADIY | TQNFYWELRQ | KGSVHHDYRG | 
    350:
    ILYRLLGDSK | MSFEDIKANV | TEMLAGGVDT | TSMTLQWHLY | EMARNLKVQD | 
    400:
    MLRAEVLAAR | HQAQGDMATM | LQLVPLLKAS | IKETLRLHPI | SVTLQRYLVN | 
    450:
    DLVLRDYMIP | AKTLVQVAIY | ALGREPTFFF | DPENFDPTRW | LSKDKNITYF | 
    500:
    RNLGFGWGVR | QCLGRRIAEL | EMTIFLINML | ENFRVEIQHL | SDVGTTFNLI | 
    521:
    LMPEKPISFT | FWPFNQEATQ | Q
    3D Structure:
    N/A
    Predicted Eptitope:
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    EIAab Sequence  Vaild Sequence:
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    Related Databases
    String:
    MIM:
    UniGene:
    KEGG:
    Pfam:
    SMR:
    Uniprot:
     
    FOR
    ELISA Kit for Human Cholesterol side-chain cleavage enzyme, mitochondrial
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    E0987b
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    ELISA Kit for Human Cholesterol side-chain cleavage enzyme, mitochondrial
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    E0987m
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    96T
    ELISA Kit for Human Cholesterol side-chain cleavage enzyme, mitochondrial
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    E0987h
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    ELISA Kit for Human Cholesterol side-chain cleavage enzyme, mitochondrial
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    ELISA Kit for Human Cholesterol side-chain cleavage enzyme, mitochondrial
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    E0987r
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    ELISA Kit for Human Cholesterol side-chain cleavage enzyme, mitochondrial
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    CLIA Kit for Human Cholesterol side-chain cleavage enzyme, mitochondrial
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    U0987r
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    Packing:
    96T
    CLIA Kit for Human Cholesterol side-chain cleavage enzyme, mitochondrial
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    U0987m
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    96T
    CLIA Kit for Human Cholesterol side-chain cleavage enzyme, mitochondrial
    Cat.:
    U0987h
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    MSDS:
    Please sign in first.
    Packing:
    96T
    Range:
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    CLIA Kit for Human Cholesterol side-chain cleavage enzyme, mitochondrial
    MSDS:
    Please sign in first.
    CLIA Kit for Human Cholesterol side-chain cleavage enzyme, mitochondrial
    Cat.:
    U0987p
    Price:
    Please sign in first.
    MSDS:
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    Packing:
    96T
    CLIA Kit for Human Cholesterol side-chain cleavage enzyme, mitochondrial
    Cat.:
    U0987b
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    MSDS:
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    Packing:
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    Polyclonal Antibody for Human Cholesterol side-chain cleavage enzyme, mitochondrial
    Polyclonal Antibody for Human Cholesterol side-chain cleavage enzyme, mitochondrial
    Polyclonal Antibody for Human Cholesterol side-chain cleavage enzyme, mitochondrial
    Cat.:
    P0987Rb-r
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    Packing:
    40ug/0.2ml
    Polyclonal Antibody for Human Cholesterol side-chain cleavage enzyme, mitochondrial
    Cat.:
    P0987Rb-h
    Price:
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    Packing:
    40ug/0.2ml
    Polyclonal Antibody for Human Cholesterol side-chain cleavage enzyme, mitochondrial
    Polyclonal Antibody for Human Cholesterol side-chain cleavage enzyme, mitochondrial
    Cat.:
    P0987Rb-m
    Price:
    Please sign in first.
    Packing:
    40ug/0.2ml
    Monoclonal Antibody for Human Cholesterol side-chain cleavage enzyme, mitochondrial
    Monoclonal Antibody for Human Cholesterol side-chain cleavage enzyme, mitochondrial
    Monoclonal Antibody for Human Cholesterol side-chain cleavage enzyme, mitochondrial
    Monoclonal Antibody for Human Cholesterol side-chain cleavage enzyme, mitochondrial
    Monoclonal Antibody for Human Cholesterol side-chain cleavage enzyme, mitochondrial
    Monoclonal Antibody for Human Cholesterol side-chain cleavage enzyme, mitochondrial
    Protein for Human Cholesterol side-chain cleavage enzyme, mitochondrial
    Protein for Human Cholesterol side-chain cleavage enzyme, mitochondrial
    Protein for Human Cholesterol side-chain cleavage enzyme, mitochondrial
    Protein for Human Cholesterol side-chain cleavage enzyme, mitochondrial
    Protein for Human Cholesterol side-chain cleavage enzyme, mitochondrial
    Protein for Human Cholesterol side-chain cleavage enzyme, mitochondrial

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    References
    1. 1.
      "Human cholesterol side-chain cleavage enzyme, P450scc: cDNA cloning, assignment of the gene to chromosome 15, and expression in the placenta."
      Chung B.-C. , Matteson K.J. , Voutilainen R. , Mohandas T.K. , Miller W.L.
      Proc. Natl. Acad. Sci. U.S.A.83:8962-8966(1986) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1)
    2. 2.
      "Gene structure of human cytochrome P-450(SCC), cholesterol desmolase."
      Morohashi K. , Sogawa K. , Omura T. , Fujii-Kuriyama Y.
      J. Biochem.101:879-887(1987) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]
      tissue: Placenta.
    3. 3.
      "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T. , Suzuki Y. , Nishikawa T. , Otsuki T. , Sugiyama T. , Irie R. , Wakamatsu A. , Hayashi K. , Sato H. , Nagai K. , Kimura K. , Makita H. , Sekine M. , Obayashi M. , Nishi T. , Shibahara T. , Tanaka T. , Ishii S. , more...
      Nat. Genet.36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2)
      tissue: Placenta.
      tissue: Testis.
    4. 5.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]
    5. 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]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1)
      tissue: Brain.
    6. 7.
      Chung B.-C.
      Submitted (1989-01) to the EMBL/GenBank/DDBJ databases
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-89
    7. 8.
      "Regulated expression of cytochrome P-450scc (cholesterol-side-chain cleavage enzyme) in cultured cell lines detected by antibody against bacterially expressed human protein."
      Hu M.C. , Guo I.C. , Lin J.H. , Chung B.-C.
      Biochem. J.274:813-817(1991) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: PROTEIN SEQUENCE OF 51-54;INDUCTION
      tissue: Choriocarcinoma.
    8. 9.
      "Study of cholesterol side-chain cleavage (20,22 desmolase) deficiency causing congenital lipoid adrenal hyperplasia using bovine-sequence P450scc oligodeoxyribonucleotide probes."
      Matteson K.J. , Chung B.-C. , Urdea M.S. , Miller W.L.
      Endocrinology118:1296-1305(1986) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 283-521 (ISOFORM 1)
    9. 10.
      "Structural basis for pregnenolone biosynthesis by the mitochondrial monooxygenase system."
      Strushkevich N. , MacKenzie F. , Cherkesova T. , Grabovec I. , Usanov S. , Park H.W.
      Proc. Natl. Acad. Sci. U.S.A.108:10139-10143(2011) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: X-RAY CRYSTALLOGRAPHY (2.1 ANGSTROMS) OF 41-521 IN COMPLEXES WITH FDX1; HEME AND CHOLESTEROL;FUNCTION;CATALYTIC ACTIVITY;COFACTOR;PATHWAY;INTERACTION WITH FDX1
    10. 11.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT LYS-314
    11. 12.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: ERRATUM
    12. 13.
      "Heterozygous mutation in the cholesterol side chain cleavage enzyme (P450scc) gene in a patient with 46,XY sex reversal and adrenal insufficiency."
      Tajima T. , Fujieda K. , Kouda N. , Nakae J. , Miller W.L.
      J. Clin. Endocrinol. Metab.86:3820-3825(2001) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT AICSR GLY-ASP-271 INS
    13. 14.
      "Compound heterozygous mutations in the cholesterol side-chain cleavage enzyme gene (CYP11A) cause congenital adrenal insufficiency in humans."
      Katsumata N. , Ohtake M. , Hojo T. , Ogawa E. , Hara T. , Sato N. , Tanaka T.
      J. Clin. Endocrinol. Metab.87:3808-3813(2002) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS AICSR VAL-189 AND TRP-353
    14. 15.
      "Homozygous mutation of P450 side-chain cleavage enzyme gene (CYP11A1) in 46, XY patient with adrenal insufficiency, complete sex reversal, and agenesis of corpus callosum."
      al Kandari H. , Katsumata N. , Alexander S. , Rasoul M.A.
      J. Clin. Endocrinol. Metab.91:2821-2826(2006) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT AICSR VAL-359;CHARACTERIZATION OF VARIANT AICSR VAL-359
    15. 16.
      "Severe combined adrenal and gonadal deficiency caused by novel mutations in the cholesterol side chain cleavage enzyme, P450scc."
      Kim C.J. , Lin L. , Huang N. , Quigley C.A. , Avruskin T.W. , Achermann J.C. , Miller W.L.
      J. Clin. Endocrinol. Metab.93:696-702(2008) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS AICSR TRP-141 AND GLU-415;CHARACTERIZATION OF VARIANTS AICSR TRP-141 AND GLU-415
    16. 17.
      "A novel homozygous mutation in CYP11A1 gene is associated with late-onset adrenal insufficiency and hypospadias in a 46,XY patient."
      Rubtsov P. , Karmanov M. , Sverdlova P. , Spirin P. , Tiulpakov A.
      J. Clin. Endocrinol. Metab.94:936-939(2009) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT AICSR PRO-222;CHARACTERIZATION OF VARIANT AICSR PRO-222
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