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P22680

- CP7A1_HUMAN

UniProt

P22680 - CP7A1_HUMAN

Protein

Cholesterol 7-alpha-monooxygenase

Gene

CYP7A1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 145 (01 Oct 2014)
      Sequence version 2 (01 Jun 1994)
      Previous versions | rss
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    Functioni

    Catalyzes a rate-limiting step in cholesterol catabolism and bile acid biosynthesis by introducing a hydrophilic moiety at position 7 of cholesterol. Important for cholesterol homeostasis.1 Publication

    Catalytic activityi

    Cholesterol + NADPH + O2 = 7-alpha-hydroxycholesterol + NADP+ + H2O.1 Publication

    Cofactori

    Heme group.1 Publication

    Pathwayi

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Metal bindingi444 – 4441Iron (heme axial ligand)

    GO - Molecular functioni

    1. cholesterol 7-alpha-monooxygenase activity Source: UniProtKB
    2. heme binding Source: InterPro
    3. iron ion binding Source: InterPro

    GO - Biological processi

    1. bile acid biosynthetic process Source: UniProtKB
    2. bile acid metabolic process Source: Reactome
    3. cellular lipid metabolic process Source: Reactome
    4. cellular response to cholesterol Source: UniProtKB
    5. cellular response to glucose stimulus Source: UniProtKB
    6. cholesterol catabolic process Source: UniProtKB
    7. cholesterol homeostasis Source: UniProtKB
    8. regulation of bile acid biosynthetic process Source: UniProtKB
    9. small molecule metabolic process Source: Reactome
    10. sterol metabolic process Source: Reactome
    11. 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

    BioCyciMetaCyc:HS09659-MONOMER.
    BRENDAi1.14.13.17. 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_116145. PPARA activates gene expression.
    REACT_13812. Endogenous sterols.
    SABIO-RKP22680.
    UniPathwayiUPA00221.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Cholesterol 7-alpha-monooxygenase (EC:1.14.13.17)
    Alternative name(s):
    CYPVII
    Cholesterol 7-alpha-hydroxylase
    Cytochrome P450 7A1
    Gene namesi
    Name:CYP7A1
    Synonyms:CYP7
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 8

    Organism-specific databases

    HGNCiHGNC:2651. CYP7A1.

    Subcellular locationi

    GO - Cellular componenti

    1. endoplasmic reticulum membrane Source: Reactome
    2. intracellular membrane-bounded organelle Source: UniProtKB

    Keywords - Cellular componenti

    Endoplasmic reticulum, Membrane, Microsome

    Pathology & Biotechi

    Organism-specific databases

    Orphaneti209902. Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency.
    PharmGKBiPA132.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 504504Cholesterol 7-alpha-monooxygenasePRO_0000051901Add
    BLAST

    Proteomic databases

    PaxDbiP22680.
    PRIDEiP22680.

    PTM databases

    PhosphoSiteiP22680.

    Expressioni

    Tissue specificityi

    Detected in liver.1 Publication

    Inductioni

    Up-regulated by glucose and by cholestyramine. Down-regulated by chenodeoxycholic acid.2 Publications

    Gene expression databases

    BgeeiP22680.
    CleanExiHS_CYP7A1.
    GenevestigatoriP22680.

    Interactioni

    Protein-protein interaction databases

    STRINGi9606.ENSP00000301645.

    Structurei

    Secondary structure

    1
    504
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Beta strandi34 – 418
    Turni42 – 454
    Helixi46 – 483
    Helixi52 – 6312
    Beta strandi65 – 717
    Beta strandi74 – 796
    Helixi82 – 843
    Helixi85 – 895
    Beta strandi95 – 984
    Helixi99 – 10911
    Helixi116 – 1183
    Beta strandi119 – 1213
    Helixi125 – 1339
    Helixi135 – 15319
    Helixi160 – 1634
    Beta strandi167 – 1704
    Helixi171 – 18818
    Helixi195 – 1973
    Helixi198 – 22023
    Helixi225 – 2273
    Helixi229 – 24113
    Helixi244 – 2474
    Helixi255 – 26713
    Helixi272 – 28716
    Helixi290 – 30314
    Helixi305 – 32117
    Beta strandi328 – 3314
    Helixi337 – 3415
    Helixi344 – 35714
    Beta strandi358 – 3603
    Beta strandi362 – 37312
    Beta strandi378 – 3814
    Beta strandi386 – 3894
    Helixi392 – 3954
    Turni398 – 4003
    Beta strandi401 – 4033
    Turni409 – 4124
    Beta strandi417 – 4193
    Helixi447 – 46418
    Beta strandi465 – 4695
    Turni470 – 4734
    Helixi481 – 4833
    Beta strandi485 – 4884
    Beta strandi491 – 4933
    Beta strandi496 – 5016

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    3DAXX-ray2.15A/B25-503[»]
    3SN5X-ray2.75A/B25-503[»]
    3V8DX-ray1.90A/B25-503[»]
    ProteinModelPortaliP22680.
    SMRiP22680. Positions 25-503.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiP22680.

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the cytochrome P450 family.Curated

    Phylogenomic databases

    eggNOGiCOG2124.
    HOGENOMiHOG000231026.
    HOVERGENiHBG051100.
    InParanoidiP22680.
    KOiK00489.
    OMAiGKHISLN.
    OrthoDBiEOG7J9VP6.
    PhylomeDBiP22680.
    TreeFamiTF105090.

    Family and domain databases

    Gene3Di1.10.630.10. 1 hit.
    InterProiIPR001128. Cyt_P450.
    IPR017972. Cyt_P450_CS.
    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.
    SUPFAMiSSF48264. SSF48264. 1 hit.
    PROSITEiPS00086. CYTOCHROME_P450. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    P22680-1 [UniParc]FASTAAdd to Basket

    « Hide

    MMTTSLIWGI AIAACCCLWL ILGIRRRQTG EPPLENGLIP YLGCALQFGA    50
    NPLEFLRANQ RKHGHVFTCK LMGKYVHFIT NPLSYHKVLC HGKYFDWKKF 100
    HFATSAKAFG HRSIDPMDGN TTENINDTFI KTLQGHALNS LTESMMENLQ 150
    RIMRPPVSSN SKTAAWVTEG MYSFCYRVMF EAGYLTIFGR DLTRRDTQKA 200
    HILNNLDNFK QFDKVFPALV AGLPIHMFRT AHNAREKLAE SLRHENLQKR 250
    ESISELISLR MFLNDTLSTF DDLEKAKTHL VVLWASQANT IPATFWSLFQ 300
    MIRNPEAMKA ATEEVKRTLE NAGQKVSLEG NPICLSQAEL NDLPVLDSII 350
    KESLRLSSAS LNIRTAKEDF TLHLEDGSYN IRKDDIIALY PQLMHLDPEI 400
    YPDPLTFKYD RYLDENGKTK TTFYCNGLKL KYYYMPFGSG ATICPGRLFA 450
    IHEIKQFLIL MLSYFELELI EGQAKCPPLD QSRAGLGILP PLNDIEFKYK 500
    FKHL 504
    Length:504
    Mass (Da):57,661
    Last modified:June 1, 1994 - v2
    Checksum:iD8067E0FF6342949
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti385 – 3851D → S in CAA39568. (PubMed:2384150)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti86 – 861H → N.
    Corresponds to variant rs62621283 [ dbSNP | Ensembl ].
    VAR_059152
    Natural varianti100 – 1001F → S.1 Publication
    VAR_001259
    Natural varianti233 – 2331N → S.1 Publication
    Corresponds to variant rs8192874 [ dbSNP | Ensembl ].
    VAR_018376
    Natural varianti347 – 3471D → N.2 Publications
    Corresponds to variant rs8192875 [ dbSNP | Ensembl ].
    VAR_018377

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X56088 mRNA. Translation: CAA39568.1.
    M93133 mRNA. Translation: AAA58435.1.
    BC101777 mRNA. Translation: AAI01778.1.
    BC112184 mRNA. Translation: AAI12185.1.
    L13460 Genomic DNA. Translation: AAA61350.1.
    M89647 Genomic DNA. Translation: AAA58423.1.
    CCDSiCCDS6171.1.
    PIRiS29818. JH0659.
    RefSeqiNP_000771.2. NM_000780.3.
    UniGeneiHs.1644.

    Genome annotation databases

    EnsembliENST00000301645; ENSP00000301645; ENSG00000167910.
    GeneIDi1581.
    KEGGihsa:1581.
    UCSCiuc003xtm.4. human.

    Polymorphism databases

    DMDMi544084.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Web resourcesi

    Wikipedia

    Cholesterol-7 alpha-hydroxylase entry

    Atlas of Genetics and Cytogenetics in Oncology and Haematology

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X56088 mRNA. Translation: CAA39568.1 .
    M93133 mRNA. Translation: AAA58435.1 .
    BC101777 mRNA. Translation: AAI01778.1 .
    BC112184 mRNA. Translation: AAI12185.1 .
    L13460 Genomic DNA. Translation: AAA61350.1 .
    M89647 Genomic DNA. Translation: AAA58423.1 .
    CCDSi CCDS6171.1.
    PIRi S29818. JH0659.
    RefSeqi NP_000771.2. NM_000780.3.
    UniGenei Hs.1644.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    3DAX X-ray 2.15 A/B 25-503 [» ]
    3SN5 X-ray 2.75 A/B 25-503 [» ]
    3V8D X-ray 1.90 A/B 25-503 [» ]
    ProteinModelPortali P22680.
    SMRi P22680. Positions 25-503.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000301645.

    PTM databases

    PhosphoSitei P22680.

    Polymorphism databases

    DMDMi 544084.

    Proteomic databases

    PaxDbi P22680.
    PRIDEi P22680.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000301645 ; ENSP00000301645 ; ENSG00000167910 .
    GeneIDi 1581.
    KEGGi hsa:1581.
    UCSCi uc003xtm.4. human.

    Organism-specific databases

    CTDi 1581.
    GeneCardsi GC08M059452.
    HGNCi HGNC:2651. CYP7A1.
    MIMi 118455. gene.
    neXtProti NX_P22680.
    Orphaneti 209902. Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency.
    PharmGKBi PA132.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG2124.
    HOGENOMi HOG000231026.
    HOVERGENi HBG051100.
    InParanoidi P22680.
    KOi K00489.
    OMAi GKHISLN.
    OrthoDBi EOG7J9VP6.
    PhylomeDBi P22680.
    TreeFami TF105090.

    Enzyme and pathway databases

    UniPathwayi UPA00221 .
    BioCyci MetaCyc:HS09659-MONOMER.
    BRENDAi 1.14.13.17. 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_116145. PPARA activates gene expression.
    REACT_13812. Endogenous sterols.
    SABIO-RK P22680.

    Miscellaneous databases

    EvolutionaryTracei P22680.
    GeneWikii Cholesterol_7_alpha-hydroxylase.
    GenomeRNAii 1581.
    NextBioi 6495.
    PROi P22680.
    SOURCEi Search...

    Gene expression databases

    Bgeei P22680.
    CleanExi HS_CYP7A1.
    Genevestigatori P22680.

    Family and domain databases

    Gene3Di 1.10.630.10. 1 hit.
    InterProi IPR001128. Cyt_P450.
    IPR017972. Cyt_P450_CS.
    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.
    SUPFAMi SSF48264. SSF48264. 1 hit.
    PROSITEi PS00086. CYTOCHROME_P450. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Structure of the gene encoding human liver cholesterol 7 alpha-hydroxylase."
      Nishimoto M., Noshiro M., Okuda K.
      Biochim. Biophys. Acta 1172:147-150(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    2. "Molecular cloning and sequence analysis of cDNA encoding human cholesterol 7 alpha-hydroxylase."
      Noshiro M., Okuda K.
      FEBS Lett. 268:137-140(1990) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], CATALYTIC ACTIVITY, VARIANT ASN-347.
    3. "Polymorphisms of human cholesterol 7 alpha-hydroxylase."
      Karam W.G., Chiang J.Y.
      Biochem. Biophys. Res. Commun. 185:588-595(1992) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT SER-100.
    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].
      Tissue: Liver.
    5. "Structure and nucleotide sequences of the human cholesterol 7 alpha-hydroxylase gene (CYP7)."
      Wang D.P., Chiang J.Y.
      Genomics 20:320-323(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-140.
      Tissue: Placenta.
    6. "Transcriptional regulation of the human cholesterol 7 alpha-hydroxylase gene."
      Molowa D.T., Chen W.S., Cimis G.M., Tan C.P.
      Biochemistry 31:2539-2544(1992) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-25.
    7. "Feedback regulation of bile acid synthesis in human liver: importance of HNF-4alpha for regulation of CYP7A1."
      Abrahamsson A., Gustafsson U., Ellis E., Nilsson L.M., Sahlin S., Bjorkhem I., Einarsson C.
      Biochem. Biophys. Res. Commun. 330:395-399(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: INDUCTION BY CHENODEOXYCHOLIC ACID AND CHOLESTYRAMINE, TISSUE SPECIFICITY.
    8. "Glucose stimulates cholesterol 7alpha-hydroxylase gene transcription in human hepatocytes."
      Li T., Chanda D., Zhang Y., Choi H.S., Chiang J.Y.
      J. Lipid Res. 51:832-842(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: INDUCTION BY GLUCOSE, FUNCTION.
    9. "Crystal structure of human CYP7A1."
      Structural genomics consortium (SGC)
      Submitted (FEB-2009) to the PDB data bank
      Cited for: X-RAY CRYSTALLOGRAPHY (2.15 ANGSTROMS) IN COMPLEX WITH HEME, COFACTOR.
    10. "Catalog of 680 variations among eight cytochrome p450 (CYP) genes, nine esterase genes, and two other genes in the Japanese population."
      Saito S., Iida A., Sekine A., Kawauchi S., Higuchi S., Ogawa C., Nakamura Y.
      J. Hum. Genet. 48:249-270(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS SER-233 AND ASN-347.

    Entry informationi

    Entry nameiCP7A1_HUMAN
    AccessioniPrimary (citable) accession number: P22680
    Secondary accession number(s): P78454, Q3MIL8, Q7KZ19
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: August 1, 1991
    Last sequence update: June 1, 1994
    Last modified: October 1, 2014
    This is version 145 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

    3D-structure, 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. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    7. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3