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Protein

Cholesterol 7-alpha-monooxygenase

Gene

CYP7A1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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 + [reduced NADPH--hemoprotein reductase] + O2 = 7-alpha-hydroxycholesterol + [oxidized NADPH--hemoprotein reductase] + H2O.1 Publication

Cofactori

heme1 Publication

Pathwayi: bile acid biosynthesis

This protein is involved in the pathway bile acid biosynthesis, which is part of Lipid metabolism.
View all proteins of this organism that are known to be involved in the pathway bile acid biosynthesis and in Lipid metabolism.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi444Iron (heme axial ligand)1

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionMonooxygenase, Oxidoreductase
Biological processCholesterol metabolism, Lipid metabolism, Steroid metabolism, Sterol metabolism
LigandHeme, Iron, Metal-binding

Enzyme and pathway databases

BioCyciMetaCyc:HS09659-MONOMER
BRENDAi1.14.13.17 2681
ReactomeiR-HSA-192105 Synthesis of bile acids and bile salts
R-HSA-193368 Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol
R-HSA-193807 Synthesis of bile acids and bile salts via 27-hydroxycholesterol
R-HSA-1989781 PPARA activates gene expression
R-HSA-211976 Endogenous sterols
SABIO-RKiP22680
SIGNORiP22680
UniPathwayi
UPA00221

Chemistry databases

SwissLipidsiSLP:000001200

Names & Taxonomyi

Protein namesi
Recommended name:
Cholesterol 7-alpha-monooxygenase (EC:1.14.14.231 Publication)
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
Proteomesi
  • UP000005640 Componenti: Chromosome 8

Organism-specific databases

EuPathDBiHostDB:ENSG00000167910.3
HGNCiHGNC:2651 CYP7A1
MIMi118455 gene
neXtProtiNX_P22680

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane, Microsome

Pathology & Biotechi

Organism-specific databases

DisGeNETi1581
MalaCardsiCYP7A1
OpenTargetsiENSG00000167910
Orphaneti209902 Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
PharmGKBiPA132

Polymorphism and mutation databases

BioMutaiCYP7A1
DMDMi544084

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000519011 – 504Cholesterol 7-alpha-monooxygenaseAdd BLAST504

Proteomic databases

EPDiP22680
PaxDbiP22680
PeptideAtlasiP22680
PRIDEiP22680
ProteomicsDBi54016

PTM databases

iPTMnetiP22680
PhosphoSitePlusiP22680

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

BgeeiENSG00000167910 Expressed in 17 organ(s), highest expression level in liver
CleanExiHS_CYP7A1
GenevisibleiP22680 HS

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000301645

Structurei

Secondary structure

1504
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliP22680
SMRiP22680
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP22680

Family & Domainsi

Sequence similaritiesi

Belongs to the cytochrome P450 family.Curated

Phylogenomic databases

eggNOGiKOG0684 Eukaryota
COG2124 LUCA
GeneTreeiENSGT00550000074551
HOGENOMiHOG000231026
HOVERGENiHBG051100
InParanoidiP22680
KOiK00489
OMAiHGHVFTC
OrthoDBiEOG091G07UI
PhylomeDBiP22680
TreeFamiTF105090

Family and domain databases

Gene3Di1.10.630.10, 1 hit
InterProiView protein in InterPro
IPR030681 Cholesterol_7a_monooxygenase
IPR001128 Cyt_P450
IPR017972 Cyt_P450_CS
IPR024204 Cyt_P450_CYP7A1-type
IPR002403 Cyt_P450_E_grp-IV
IPR036396 Cyt_P450_sf
PANTHERiPTHR24304:SF1 PTHR24304:SF1, 1 hit
PfamiView protein in Pfam
PF00067 p450, 1 hit
PIRSFiPIRSF500625 Cytochrome_CYP7A1, 1 hit
PIRSF000047 Cytochrome_CYPVIIA1, 1 hit
PRINTSiPR00465 EP450IV
SUPFAMiSSF48264 SSF48264, 1 hit
PROSITEiView protein in PROSITE
PS00086 CYTOCHROME_P450, 1 hit

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)DescriptionActionsGraphical viewLength
Sequence conflicti385D → S in CAA39568 (PubMed:2384150).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05915286H → N. Corresponds to variant dbSNP:rs62621283Ensembl.1
Natural variantiVAR_001259100F → S1 Publication1
Natural variantiVAR_018376233N → S1 PublicationCorresponds to variant dbSNP:rs8192874Ensembl.1
Natural variantiVAR_018377347D → N2 PublicationsCorresponds to variant dbSNP:rs8192875Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.5 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

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:
EMBLi
GenBanki
DDBJi
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

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3DAXX-ray2.15A/B25-503[»]
3SN5X-ray2.75A/B25-503[»]
3V8DX-ray1.90A/B25-503[»]
ProteinModelPortaliP22680
SMRiP22680
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000301645

Chemistry databases

SwissLipidsiSLP:000001200

PTM databases

iPTMnetiP22680
PhosphoSitePlusiP22680

Polymorphism and mutation databases

BioMutaiCYP7A1
DMDMi544084

Proteomic databases

EPDiP22680
PaxDbiP22680
PeptideAtlasiP22680
PRIDEiP22680
ProteomicsDBi54016

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000301645; ENSP00000301645; ENSG00000167910
GeneIDi1581
KEGGihsa:1581
UCSCiuc003xtm.5 human

Organism-specific databases

CTDi1581
DisGeNETi1581
EuPathDBiHostDB:ENSG00000167910.3
GeneCardsiCYP7A1
HGNCiHGNC:2651 CYP7A1
MalaCardsiCYP7A1
MIMi118455 gene
neXtProtiNX_P22680
OpenTargetsiENSG00000167910
Orphaneti209902 Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
PharmGKBiPA132
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0684 Eukaryota
COG2124 LUCA
GeneTreeiENSGT00550000074551
HOGENOMiHOG000231026
HOVERGENiHBG051100
InParanoidiP22680
KOiK00489
OMAiHGHVFTC
OrthoDBiEOG091G07UI
PhylomeDBiP22680
TreeFamiTF105090

Enzyme and pathway databases

UniPathwayi
UPA00221

BioCyciMetaCyc:HS09659-MONOMER
BRENDAi1.14.13.17 2681
ReactomeiR-HSA-192105 Synthesis of bile acids and bile salts
R-HSA-193368 Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol
R-HSA-193807 Synthesis of bile acids and bile salts via 27-hydroxycholesterol
R-HSA-1989781 PPARA activates gene expression
R-HSA-211976 Endogenous sterols
SABIO-RKiP22680
SIGNORiP22680

Miscellaneous databases

EvolutionaryTraceiP22680
GeneWikiiCholesterol_7_alpha-hydroxylase
GenomeRNAii1581
PROiPR:P22680
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000167910 Expressed in 17 organ(s), highest expression level in liver
CleanExiHS_CYP7A1
GenevisibleiP22680 HS

Family and domain databases

Gene3Di1.10.630.10, 1 hit
InterProiView protein in InterPro
IPR030681 Cholesterol_7a_monooxygenase
IPR001128 Cyt_P450
IPR017972 Cyt_P450_CS
IPR024204 Cyt_P450_CYP7A1-type
IPR002403 Cyt_P450_E_grp-IV
IPR036396 Cyt_P450_sf
PANTHERiPTHR24304:SF1 PTHR24304:SF1, 1 hit
PfamiView protein in Pfam
PF00067 p450, 1 hit
PIRSFiPIRSF500625 Cytochrome_CYP7A1, 1 hit
PIRSF000047 Cytochrome_CYPVIIA1, 1 hit
PRINTSiPR00465 EP450IV
SUPFAMiSSF48264 SSF48264, 1 hit
PROSITEiView protein in PROSITE
PS00086 CYTOCHROME_P450, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiCP7A1_HUMAN
AccessioniPrimary (citable) accession number: P22680
Secondary accession number(s): P78454, Q3MIL8, Q7KZ19
Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 1, 1991
Last sequence update: June 1, 1994
Last modified: September 12, 2018
This is version 176 of the entry and version 2 of the sequence. See 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
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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