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P22680

- CP7A1_HUMAN

UniProt

P22680 - CP7A1_HUMAN

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Protein

Cholesterol 7-alpha-monooxygenase

Gene

CYP7A1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

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
Complete GO annotation...

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
Complete GO annotation...

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.
GeneTreeiENSGT00550000074551.
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

        10         20         30         40         50
MMTTSLIWGI AIAACCCLWL ILGIRRRQTG EPPLENGLIP YLGCALQFGA
60 70 80 90 100
NPLEFLRANQ RKHGHVFTCK LMGKYVHFIT NPLSYHKVLC HGKYFDWKKF
110 120 130 140 150
HFATSAKAFG HRSIDPMDGN TTENINDTFI KTLQGHALNS LTESMMENLQ
160 170 180 190 200
RIMRPPVSSN SKTAAWVTEG MYSFCYRVMF EAGYLTIFGR DLTRRDTQKA
210 220 230 240 250
HILNNLDNFK QFDKVFPALV AGLPIHMFRT AHNAREKLAE SLRHENLQKR
260 270 280 290 300
ESISELISLR MFLNDTLSTF DDLEKAKTHL VVLWASQANT IPATFWSLFQ
310 320 330 340 350
MIRNPEAMKA ATEEVKRTLE NAGQKVSLEG NPICLSQAEL NDLPVLDSII
360 370 380 390 400
KESLRLSSAS LNIRTAKEDF TLHLEDGSYN IRKDDIIALY PQLMHLDPEI
410 420 430 440 450
YPDPLTFKYD RYLDENGKTK TTFYCNGLKL KYYYMPFGSG ATICPGRLFA
460 470 480 490 500
IHEIKQFLIL MLSYFELELI EGQAKCPPLD QSRAGLGILP PLNDIEFKYK

FKHL
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.
GeneTreei ENSGT00550000074551.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 146 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