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O75881

- CP7B1_HUMAN

UniProt

O75881 - CP7B1_HUMAN

Protein

25-hydroxycholesterol 7-alpha-hydroxylase

Gene

CYP7B1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 133 (01 Oct 2014)
      Sequence version 2 (11 Feb 2002)
      Previous versions | rss
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    Functioni

    Catalytic activityi

    Cholest-5-ene-3-beta,25-diol + NADPH + O2 = cholest-5-ene-3-beta,7-alpha,25-triol + NADP+ + H2O.
    (25R)-cholest-5-ene-3-beta,26-diol + NADPH + O2 = (25R)-cholest-5-ene-3-beta,7-alpha,26-triol + NADP+ + H2O.

    Cofactori

    Heme group.By similarity

    Pathwayi

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Metal bindingi449 – 4491Iron (heme axial ligand)By similarity

    GO - Molecular functioni

    1. 25-hydroxycholesterol 7alpha-hydroxylase activity Source: UniProtKB-EC
    2. heme binding Source: InterPro
    3. iron ion binding Source: InterPro
    4. oxysterol 7-alpha-hydroxylase activity Source: ProtInc

    GO - Biological processi

    1. bile acid biosynthetic process Source: Reactome
    2. bile acid metabolic process Source: Reactome
    3. cell death Source: UniProtKB-KW
    4. cholesterol metabolic process Source: UniProtKB-KW
    5. negative regulation of intracellular estrogen receptor signaling pathway Source: Ensembl
    6. positive regulation of epithelial cell proliferation Source: Ensembl
    7. prostate gland epithelium morphogenesis Source: Ensembl
    8. small molecule metabolic process Source: Reactome
    9. sterol metabolic process Source: Reactome
    10. xenobiotic metabolic process Source: Reactome

    Keywords - Molecular functioni

    Monooxygenase, Oxidoreductase

    Keywords - Biological processi

    Cholesterol metabolism, Lipid metabolism, Steroid metabolism, Sterol metabolism

    Keywords - Ligandi

    Heme, Iron, Metal-binding, NADP

    Enzyme and pathway databases

    BRENDAi1.14.13.100. 2681.
    ReactomeiREACT_11041. Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol.
    REACT_11048. Synthesis of bile acids and bile salts via 27-hydroxycholesterol.
    REACT_11054. Synthesis of bile acids and bile salts.
    REACT_13812. Endogenous sterols.
    UniPathwayiUPA00221.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    25-hydroxycholesterol 7-alpha-hydroxylase (EC:1.14.13.100)
    Alternative name(s):
    Cytochrome P450 7B1
    Oxysterol 7-alpha-hydroxylase
    Gene namesi
    Name:CYP7B1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 8

    Organism-specific databases

    HGNCiHGNC:2652. CYP7B1.

    Subcellular locationi

    GO - Cellular componenti

    1. endoplasmic reticulum membrane Source: Reactome

    Keywords - Cellular componenti

    Endoplasmic reticulum, Membrane, Microsome

    Pathology & Biotechi

    Involvement in diseasei

    Spastic paraplegia 5A, autosomal recessive (SPG5A) [MIM:270800]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti57 – 571G → R in SPG5A. 1 Publication
    VAR_044382
    Natural varianti216 – 2161F → S in SPG5A. 1 Publication
    VAR_044383
    Natural varianti363 – 3631S → F in SPG5A. 1 Publication
    VAR_044384
    Natural varianti417 – 4171R → H in SPG5A. 1 Publication
    VAR_044385
    Congenital bile acid synthesis defect 3 (CBAS3) [MIM:613812]: A disorder resulting in severe cholestasis, cirrhosis and liver synthetic failure. Hepatic microsomal oxysterol 7-alpha-hydroxylase activity is undetectable.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Keywords - Diseasei

    Disease mutation, Hereditary spastic paraplegia, Intrahepatic cholestasis, Neurodegeneration

    Organism-specific databases

    MIMi270800. phenotype.
    613812. phenotype.
    Orphaneti100986. Autosomal recessive spastic paraplegia type 5A.
    79302. Congenital bile acid synthesis defect type 3.
    PharmGKBiPA27124.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 50650625-hydroxycholesterol 7-alpha-hydroxylasePRO_0000051906Add
    BLAST

    Proteomic databases

    MaxQBiO75881.
    PaxDbiO75881.
    PRIDEiO75881.

    PTM databases

    PhosphoSiteiO75881.

    Expressioni

    Tissue specificityi

    Brain, testis, ovary, prostate, liver, colon, kidney, and small intestine.

    Gene expression databases

    BgeeiO75881.
    CleanExiHS_CYP7B1.
    GenevestigatoriO75881.

    Organism-specific databases

    HPAiHPA017761.

    Interactioni

    Protein-protein interaction databases

    BioGridi114813. 1 interaction.
    STRINGi9606.ENSP00000310721.

    Structurei

    3D structure databases

    ProteinModelPortaliO75881.
    SMRiO75881. Positions 39-505.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the cytochrome P450 family.Curated

    Phylogenomic databases

    eggNOGiCOG2124.
    HOGENOMiHOG000231026.
    HOVERGENiHBG051100.
    InParanoidiO75881.
    KOiK07430.
    OMAiQYQLVIK.
    OrthoDBiEOG7J9VP6.
    PhylomeDBiO75881.
    TreeFamiTF105090.

    Family and domain databases

    Gene3Di1.10.630.10. 1 hit.
    InterProiIPR001128. Cyt_P450.
    IPR024204. Cyt_P450_CYP7A1-type.
    IPR002403. Cyt_P450_E_grp-IV.
    [Graphical view]
    PfamiPF00067. p450. 1 hit.
    [Graphical view]
    PIRSFiPIRSF000047. Cytochrome_CYPVIIA1. 1 hit.
    PRINTSiPR00465. EP450IV.
    PR00385. P450.
    SUPFAMiSSF48264. SSF48264. 1 hit.

    Sequencei

    Sequence statusi: Complete.

    O75881-1 [UniParc]FASTAAdd to Basket

    « Hide

    MAGEVSAATG RFSLERLGLP GLALAAALLL LALCLLVRRT RRPGEPPLIK    50
    GWLPYLGVVL NLRKDPLRFM KTLQKQHGDT FTVLLGGKYI TFILDPFQYQ 100
    LVIKNHKQLS FRVFSNKLLE KAFSISQLQK NHDMNDELHL CYQFLQGKSL 150
    DILLESMMQN LKQVFEPQLL KTTSWDTAEL YPFCSSIIFE ITFTTIYGKV 200
    IVCDNNKFIS ELRDDFLKFD DKFAYLVSNI PIELLGNVKS IREKIIKCFS 250
    SEKLAKMQGW SEVFQSRQDV LEKYYVHEDL EIGAHHLGFL WASVANTIPT 300
    MFWAMYYLLR HPEAMAAVRD EIDRLLQSTG QKKGSGFPIH LTREQLDSLI 350
    CLESSIFEAL RLSSYSTTIR FVEEDLTLSS ETGDYCVRKG DLVAIFPPVL 400
    HGDPEIFEAP EEFRYDRFIE DGKKKTTFFK RGKKLKCYLM PFGTGTSKCP 450
    GRFFALMEIK QLLVILLTYF DLEIIDDKPI GLNYSRLLFG IQYPDSDVLF 500
    RYKVKS 506
    Length:506
    Mass (Da):58,256
    Last modified:February 11, 2002 - v2
    Checksum:i07D3D4B801B6DBD9
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti324 – 3241R → H in AAC95426. (PubMed:9802883)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti57 – 571G → R in SPG5A. 1 Publication
    VAR_044382
    Natural varianti216 – 2161F → S in SPG5A. 1 Publication
    VAR_044383
    Natural varianti363 – 3631S → F in SPG5A. 1 Publication
    VAR_044384
    Natural varianti417 – 4171R → H in SPG5A. 1 Publication
    VAR_044385

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF029403 mRNA. Translation: AAC95426.1.
    AF127090 mRNA. Translation: AAD20021.1.
    AF176805
    , AF176800, AF176801, AF176802, AF176803, AF176804 Genomic DNA. Translation: AAK11850.1.
    CH471068 Genomic DNA. Translation: EAW86877.1.
    BC136574 mRNA. Translation: AAI36575.1.
    CCDSiCCDS6180.1.
    RefSeqiNP_004811.1. NM_004820.3.
    UniGeneiHs.667720.

    Genome annotation databases

    EnsembliENST00000310193; ENSP00000310721; ENSG00000172817.
    GeneIDi9420.
    KEGGihsa:9420.
    UCSCiuc003xvj.2. human.

    Cross-referencesi

    Web resourcesi

    Atlas of Genetics and Cytogenetics in Oncology and Haematology

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF029403 mRNA. Translation: AAC95426.1 .
    AF127090 mRNA. Translation: AAD20021.1 .
    AF176805
    , AF176800 , AF176801 , AF176802 , AF176803 , AF176804 Genomic DNA. Translation: AAK11850.1 .
    CH471068 Genomic DNA. Translation: EAW86877.1 .
    BC136574 mRNA. Translation: AAI36575.1 .
    CCDSi CCDS6180.1.
    RefSeqi NP_004811.1. NM_004820.3.
    UniGenei Hs.667720.

    3D structure databases

    ProteinModelPortali O75881.
    SMRi O75881. Positions 39-505.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 114813. 1 interaction.
    STRINGi 9606.ENSP00000310721.

    PTM databases

    PhosphoSitei O75881.

    Proteomic databases

    MaxQBi O75881.
    PaxDbi O75881.
    PRIDEi O75881.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000310193 ; ENSP00000310721 ; ENSG00000172817 .
    GeneIDi 9420.
    KEGGi hsa:9420.
    UCSCi uc003xvj.2. human.

    Organism-specific databases

    CTDi 9420.
    GeneCardsi GC08M065500.
    HGNCi HGNC:2652. CYP7B1.
    HPAi HPA017761.
    MIMi 270800. phenotype.
    603711. gene.
    613812. phenotype.
    neXtProti NX_O75881.
    Orphaneti 100986. Autosomal recessive spastic paraplegia type 5A.
    79302. Congenital bile acid synthesis defect type 3.
    PharmGKBi PA27124.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG2124.
    HOGENOMi HOG000231026.
    HOVERGENi HBG051100.
    InParanoidi O75881.
    KOi K07430.
    OMAi QYQLVIK.
    OrthoDBi EOG7J9VP6.
    PhylomeDBi O75881.
    TreeFami TF105090.

    Enzyme and pathway databases

    UniPathwayi UPA00221 .
    BRENDAi 1.14.13.100. 2681.
    Reactomei REACT_11041. Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol.
    REACT_11048. Synthesis of bile acids and bile salts via 27-hydroxycholesterol.
    REACT_11054. Synthesis of bile acids and bile salts.
    REACT_13812. Endogenous sterols.

    Miscellaneous databases

    GeneWikii CYP7B1.
    GenomeRNAii 9420.
    NextBioi 35286.
    PROi O75881.
    SOURCEi Search...

    Gene expression databases

    Bgeei O75881.
    CleanExi HS_CYP7B1.
    Genevestigatori O75881.

    Family and domain databases

    Gene3Di 1.10.630.10. 1 hit.
    InterProi IPR001128. Cyt_P450.
    IPR024204. Cyt_P450_CYP7A1-type.
    IPR002403. Cyt_P450_E_grp-IV.
    [Graphical view ]
    Pfami PF00067. p450. 1 hit.
    [Graphical view ]
    PIRSFi PIRSF000047. Cytochrome_CYPVIIA1. 1 hit.
    PRINTSi PR00465. EP450IV.
    PR00385. P450.
    SUPFAMi SSF48264. SSF48264. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "Identification of a new inborn error in bile acid synthesis: mutation of the oxysterol 7-alpha-hydroxylase gene causes severe neonatal liver disease."
      Setchell K.D.R., Schwarz M., O'Connell N.C., Lund E.G., Davis D.L., Lathe R., Thompson H.R., Tyson W.R., Sokol R.J., Russell D.W.
      J. Clin. Invest. 102:1690-1703(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], INVOLVEMENT IN CBAS3.
      Tissue: Liver and Spleen.
    2. "Structure and functions of human oxysterol 7alpha-hydroxylase cDNAs and gene CYP7B1."
      Wu Z.L., Martin K.O., Javitt N.B., Chiang J.Y.L.
      J. Lipid Res. 40:2195-2203(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA].
      Tissue: Hippocampus.
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "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].
    5. Cited for: VARIANTS SPG5A ARG-57; SER-216; PHE-363 AND HIS-417.

    Entry informationi

    Entry nameiCP7B1_HUMAN
    AccessioniPrimary (citable) accession number: O75881
    Secondary accession number(s): B2RN07, Q9UNF5
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 15, 1999
    Last sequence update: February 11, 2002
    Last modified: October 1, 2014
    This is version 133 of the entry and version 2 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, 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. PATHWAY comments
      Index of metabolic and biosynthesis pathways
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3