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Entry version 180 (17 Jun 2020)
Sequence version 2 (11 Feb 2002)
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Protein

Cytochrome P450 7B1

Gene

CYP7B1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

A cytochrome P450 monooxygenase involved in the metabolism of endogenous oxysterols and steroid hormones, including neurosteroids (PubMed:10588945, PubMed:24491228). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (CPR; NADPH-ferrihemoprotein reductase) (PubMed:10588945, PubMed:24491228). Catalyzes the hydroxylation of carbon hydrogen bonds of steroids with a preference for 7-alpha position (PubMed:10588945, PubMed:24491228). Usually metabolizes steroids carrying a hydroxy group at position 3, functioning as a 3-hydroxy steroid 7-alpha hydroxylase (PubMed:24491228). Hydroxylates oxysterols, including 25-hydroxycholesterol and (25R)-cholest-5-ene-3beta,26-diol toward 7-alpha hydroxy derivatives, which may be transported to the liver and converted to bile acids (PubMed:9802883, PubMed:10588945). Via its product 7-alpha,25-dihydroxycholesterol, a ligand for the chemotactic G protein-coupled receptor GPR183/EBI2, regulates B cell migration in germinal centers of lymphoid organs, thus guiding efficient maturation of plasma B cells and overall antigen-specific humoral immune response (By similarity). 7-alpha hydroxylates neurosteroids, including 3beta-hydroxyandrost-5-en-17-one (dehydroepiandrosterone) and pregnenolone, both involved in hippocampus-associated memory and learning (PubMed:24491228). Metabolizes androstanoids toward 6- or 7-alpha hydroxy derivatives (PubMed:24491228).By similarity3 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the 'Function' section provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

hemeBy similarity

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes regulatory mechanisms for enzymes, transporters or microbial transcription factors, and reports the components which regulate (by activation or inhibition) the reaction.<p><a href='/help/activity_regulation' target='_top'>More...</a></p>Activity regulationi

Inhibited by drugs voriconazole and metyrapone.1 Publication

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>Pathwayi: bile acid biosynthesis

This protein is involved in the pathway bile acid biosynthesis, which is part of Lipid metabolism.2 Publications
View all proteins of this organism that are known to be involved in the pathway bile acid biosynthesis and in Lipid metabolism.

Pathwayi: Steroid hormone biosynthesis

This protein is involved in Steroid hormone biosynthesis.1 Publication
View all proteins of this organism that are known to be involved in Steroid hormone biosynthesis.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the 'Description' field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi449Iron (heme axial ligand)By similarity1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

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

Enzyme and pathway databases

BRENDA Comprehensive Enzyme Information System

More...
BRENDAi
1.14.13.100 2681

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-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-211976 Endogenous sterols
R-HSA-5579013 Defective CYP7B1 causes Spastic paraplegia 5A, autosomal recessive (SPG5A) and Congenital bile acid synthesis defect 3 (CBAS3)

SIGNOR Signaling Network Open Resource

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SIGNORi
O75881

UniPathway: a resource for the exploration and annotation of metabolic pathways

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UniPathwayi
UPA00221

Chemistry databases

SwissLipids knowledge resource for lipid biology

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SwissLipidsi
SLP:000001207

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Cytochrome P450 7B1
Alternative name(s):
24-hydroxycholesterol 7-alpha-hydroxylaseBy similarity (EC:1.14.14.26By similarity)
25/26-hydroxycholesterol 7-alpha-hydroxylase1 Publication (EC:1.14.14.291 Publication)
3-hydroxysteroid 7-alpha hydroxylase1 Publication
Oxysterol 7-alpha-hydroxylase1 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:CYP7B11 PublicationImported
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 8

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000172817.3

Human Gene Nomenclature Database

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HGNCi
HGNC:2652 CYP7B1

Online Mendelian Inheritance in Man (OMIM)

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MIMi
603711 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_O75881

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei17 – 37HelicalSequence analysisAdd BLAST21
Transmembranei289 – 309HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane, Microsome

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Spastic paraplegia 5A, autosomal recessive (SPG5A)6 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_04438257G → R in SPG5A. 1 PublicationCorresponds to variant dbSNP:rs121908614EnsemblClinVar.1
Natural variantiVAR_07550687G → V in SPG5A. 1 PublicationCorresponds to variant dbSNP:rs587777221EnsemblClinVar.1
Natural variantiVAR_075508147G → D in SPG5A; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs754730601EnsemblClinVar.1
Natural variantiVAR_075509198G → R in SPG5A; unknown pathological significance. 1 Publication1
Natural variantiVAR_044383216F → S in SPG5A. 1 PublicationCorresponds to variant dbSNP:rs121908612EnsemblClinVar.1
Natural variantiVAR_075510285H → L in SPG5A. 1 PublicationCorresponds to variant dbSNP:rs750781606Ensembl.1
Natural variantiVAR_075512297T → A in SPG5A. 2 PublicationsCorresponds to variant dbSNP:rs587777222EnsemblClinVar.1
Natural variantiVAR_075513316A → AA in SPG5A; unknown pathological significance. 1 Publication1
Natural variantiVAR_044384363S → F in SPG5A. 1 PublicationCorresponds to variant dbSNP:rs121908610EnsemblClinVar.1
Natural variantiVAR_075515417R → C in SPG5A. 1 PublicationCorresponds to variant dbSNP:rs367916692EnsemblClinVar.1
Natural variantiVAR_044385417R → H in SPG5A. 2 PublicationsCorresponds to variant dbSNP:rs121908611EnsemblClinVar.1
Natural variantiVAR_075516443G → A in SPG5A. 1 PublicationCorresponds to variant dbSNP:rs1190562443EnsemblClinVar.1
Natural variantiVAR_075517470F → I in SPG5A. 1 PublicationCorresponds to variant dbSNP:rs267606758EnsemblClinVar.1
Natural variantiVAR_075518486R → C in SPG5A. 3 PublicationsCorresponds to variant dbSNP:rs116171274EnsemblClinVar.1
Congenital bile acid synthesis defect 3 (CBAS3)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder resulting in severe cholestasis, cirrhosis and liver synthetic failure. Hepatic microsomal oxysterol 7-alpha-hydroxylase activity is undetectable.
Related information in OMIM

Keywords - Diseasei

Disease mutation, Hereditary spastic paraplegia, Intrahepatic cholestasis, Neurodegeneration

Organism-specific databases

DisGeNET

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DisGeNETi
9420

MalaCards human disease database

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MalaCardsi
CYP7B1
MIMi270800 phenotype
613812 phenotype

Open Targets

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OpenTargetsi
ENSG00000172817

Orphanet; a database dedicated to information on rare diseases and orphan drugs

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Orphaneti
100986 Autosomal recessive spastic paraplegia type 5A
79302 Congenital bile acid synthesis defect type 3

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA27124

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

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Pharosi
O75881 Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
CYP7B1

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000519061 – 506Cytochrome P450 7B1Add BLAST506

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
O75881

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
O75881

MaxQB - The MaxQuant DataBase

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MaxQBi
O75881

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
O75881

PeptideAtlas

More...
PeptideAtlasi
O75881

PRoteomics IDEntifications database

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PRIDEi
O75881

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
50237

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
O75881

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
O75881

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Widely expressed. Expressed in brain, testis, ovary, prostate, liver, colon, kidney, small intestine, thymus and spleen.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000172817 Expressed in corpus callosum and 113 other tissues

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
O75881 HS

Organism-specific databases

Human Protein Atlas

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HPAi
ENSG00000172817 Low tissue specificity

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

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BioGRIDi
114813, 3 interactors

Protein interaction database and analysis system

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IntActi
O75881, 2 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000310721

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

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RNActi
O75881 protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
O75881

Database of comparative protein structure models

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ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the cytochrome P450 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG0684 Eukaryota
COG2124 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000153141

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
CLU_018012_1_2_1

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
O75881

KEGG Orthology (KO)

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KOi
K07430

Identification of Orthologs from Complete Genome Data

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OMAi
LKYFLMP

Database of Orthologous Groups

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OrthoDBi
614788at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
O75881

TreeFam database of animal gene trees

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TreeFami
TF105090

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
1.10.630.10, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR001128 Cyt_P450
IPR024204 Cyt_P450_CYP7A1-type
IPR002403 Cyt_P450_E_grp-IV
IPR036396 Cyt_P450_sf

Pfam protein domain database

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Pfami
View protein in Pfam
PF00067 p450, 1 hit

PIRSF; a whole-protein classification database

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PIRSFi
PIRSF000047 Cytochrome_CYPVIIA1, 1 hit

Protein Motif fingerprint database; a protein domain database

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PRINTSi
PR00465 EP450IV
PR00385 P450

Superfamily database of structural and functional annotation

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SUPFAMi
SSF48264 SSF48264, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequencei

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

O75881-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MAGEVSAATG RFSLERLGLP GLALAAALLL LALCLLVRRT RRPGEPPLIK
60 70 80 90 100
GWLPYLGVVL NLRKDPLRFM KTLQKQHGDT FTVLLGGKYI TFILDPFQYQ
110 120 130 140 150
LVIKNHKQLS FRVFSNKLLE KAFSISQLQK NHDMNDELHL CYQFLQGKSL
160 170 180 190 200
DILLESMMQN LKQVFEPQLL KTTSWDTAEL YPFCSSIIFE ITFTTIYGKV
210 220 230 240 250
IVCDNNKFIS ELRDDFLKFD DKFAYLVSNI PIELLGNVKS IREKIIKCFS
260 270 280 290 300
SEKLAKMQGW SEVFQSRQDV LEKYYVHEDL EIGAHHLGFL WASVANTIPT
310 320 330 340 350
MFWAMYYLLR HPEAMAAVRD EIDRLLQSTG QKKGSGFPIH LTREQLDSLI
360 370 380 390 400
CLESSIFEAL RLSSYSTTIR FVEEDLTLSS ETGDYCVRKG DLVAIFPPVL
410 420 430 440 450
HGDPEIFEAP EEFRYDRFIE DGKKKTTFFK RGKKLKCYLM PFGTGTSKCP
460 470 480 490 500
GRFFALMEIK QLLVILLTYF DLEIIDDKPI GLNYSRLLFG IQYPDSDVLF

RYKVKS
Length:506
Mass (Da):58,256
Last modified:February 11, 2002 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i07D3D4B801B6DBD9
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07550519L → P1 PublicationCorresponds to variant dbSNP:rs72554624EnsemblClinVar.1
Natural variantiVAR_04438257G → R in SPG5A. 1 PublicationCorresponds to variant dbSNP:rs121908614EnsemblClinVar.1
Natural variantiVAR_07550687G → V in SPG5A. 1 PublicationCorresponds to variant dbSNP:rs587777221EnsemblClinVar.1
Natural variantiVAR_075507106H → Y1 Publication1
Natural variantiVAR_075508147G → D in SPG5A; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs754730601EnsemblClinVar.1
Natural variantiVAR_075509198G → R in SPG5A; unknown pathological significance. 1 Publication1
Natural variantiVAR_044383216F → S in SPG5A. 1 PublicationCorresponds to variant dbSNP:rs121908612EnsemblClinVar.1
Natural variantiVAR_075510285H → L in SPG5A. 1 PublicationCorresponds to variant dbSNP:rs750781606Ensembl.1
Natural variantiVAR_075511287L → S1 Publication1
Natural variantiVAR_075512297T → A in SPG5A. 2 PublicationsCorresponds to variant dbSNP:rs587777222EnsemblClinVar.1
Natural variantiVAR_075513316A → AA in SPG5A; unknown pathological significance. 1 Publication1
Natural variantiVAR_075514324R → H2 PublicationsCorresponds to variant dbSNP:rs59035258EnsemblClinVar.1
Natural variantiVAR_044384363S → F in SPG5A. 1 PublicationCorresponds to variant dbSNP:rs121908610EnsemblClinVar.1
Natural variantiVAR_075515417R → C in SPG5A. 1 PublicationCorresponds to variant dbSNP:rs367916692EnsemblClinVar.1
Natural variantiVAR_044385417R → H in SPG5A. 2 PublicationsCorresponds to variant dbSNP:rs121908611EnsemblClinVar.1
Natural variantiVAR_075516443G → A in SPG5A. 1 PublicationCorresponds to variant dbSNP:rs1190562443EnsemblClinVar.1
Natural variantiVAR_075517470F → I in SPG5A. 1 PublicationCorresponds to variant dbSNP:rs267606758EnsemblClinVar.1
Natural variantiVAR_075518486R → C in SPG5A. 3 PublicationsCorresponds to variant dbSNP:rs116171274EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
AF029403 mRNA Translation: AAC95426.1
AF127090 mRNA Translation: AAD20021.1
AF176805 AF176804 Genomic DNA Translation: AAK11850.1
CH471068 Genomic DNA Translation: EAW86877.1
BC136574 mRNA Translation: AAI36575.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS6180.1

NCBI Reference Sequences

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RefSeqi
NP_004811.1, NM_004820.4

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000310193; ENSP00000310721; ENSG00000172817

Database of genes from NCBI RefSeq genomes

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GeneIDi
9420

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:9420

UCSC genome browser

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UCSCi
uc003xvj.3 human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross%5Freferences%5Fsection">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF029403 mRNA Translation: AAC95426.1
AF127090 mRNA Translation: AAD20021.1
AF176805 AF176804 Genomic DNA Translation: AAK11850.1
CH471068 Genomic DNA Translation: EAW86877.1
BC136574 mRNA Translation: AAI36575.1
CCDSiCCDS6180.1
RefSeqiNP_004811.1, NM_004820.4

3D structure databases

SMRiO75881
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi114813, 3 interactors
IntActiO75881, 2 interactors
STRINGi9606.ENSP00000310721

Chemistry databases

SwissLipidsiSLP:000001207

PTM databases

iPTMnetiO75881
PhosphoSitePlusiO75881

Polymorphism and mutation databases

BioMutaiCYP7B1

Proteomic databases

jPOSTiO75881
MassIVEiO75881
MaxQBiO75881
PaxDbiO75881
PeptideAtlasiO75881
PRIDEiO75881
ProteomicsDBi50237

Protocols and materials databases

Antibodypedia a portal for validated antibodies

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Antibodypediai
3058 282 antibodies

Genome annotation databases

EnsembliENST00000310193; ENSP00000310721; ENSG00000172817
GeneIDi9420
KEGGihsa:9420
UCSCiuc003xvj.3 human

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
9420
DisGeNETi9420
EuPathDBiHostDB:ENSG00000172817.3

GeneCards: human genes, protein and diseases

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GeneCardsi
CYP7B1
HGNCiHGNC:2652 CYP7B1
HPAiENSG00000172817 Low tissue specificity
MalaCardsiCYP7B1
MIMi270800 phenotype
603711 gene
613812 phenotype
neXtProtiNX_O75881
OpenTargetsiENSG00000172817
Orphaneti100986 Autosomal recessive spastic paraplegia type 5A
79302 Congenital bile acid synthesis defect type 3
PharmGKBiPA27124

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG0684 Eukaryota
COG2124 LUCA
GeneTreeiENSGT00940000153141
HOGENOMiCLU_018012_1_2_1
InParanoidiO75881
KOiK07430
OMAiLKYFLMP
OrthoDBi614788at2759
PhylomeDBiO75881
TreeFamiTF105090

Enzyme and pathway databases

UniPathwayiUPA00221
BRENDAi1.14.13.100 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-211976 Endogenous sterols
R-HSA-5579013 Defective CYP7B1 causes Spastic paraplegia 5A, autosomal recessive (SPG5A) and Congenital bile acid synthesis defect 3 (CBAS3)
SIGNORiO75881

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

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BioGRID-ORCSi
9420 3 hits in 787 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
CYP7B1 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
CYP7B1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
9420
PharosiO75881 Tbio

Protein Ontology

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PROi
PR:O75881
RNActiO75881 protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000172817 Expressed in corpus callosum and 113 other tissues
GenevisibleiO75881 HS

Family and domain databases

Gene3Di1.10.630.10, 1 hit
InterProiView protein in InterPro
IPR001128 Cyt_P450
IPR024204 Cyt_P450_CYP7A1-type
IPR002403 Cyt_P450_E_grp-IV
IPR036396 Cyt_P450_sf
PfamiView protein in Pfam
PF00067 p450, 1 hit
PIRSFiPIRSF000047 Cytochrome_CYPVIIA1, 1 hit
PRINTSiPR00465 EP450IV
PR00385 P450
SUPFAMiSSF48264 SSF48264, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiCP7B1_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: O75881
Secondary accession number(s): B2RN07, Q9UNF5
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: February 11, 2002
Last modified: June 17, 2020
This is version 180 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
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