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Entry version 158 (17 Jun 2020)
Sequence version 2 (18 May 2010)
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Protein

Cytochrome P450 4V2

Gene

CYP4V2

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 fatty acid metabolism in the eye. Catalyzes the omega-hydroxylation of polyunsaturated fatty acids (PUFAs) docosahexaenoate (DHA) and its precursor eicosapentaenoate (EPA), and may contribute to the homeostasis of these retinal PUFAs (PubMed:22772592). Omega hydroxylates saturated fatty acids such as laurate, myristate and palmitate, the catalytic efficiency decreasing in the following order: myristate > laurate > palmitate (C14>C12>C16) (PubMed:19661213). 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).2 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 N-hydroxy-N'-(4-n-butyl-2-methylphenyl formamidine)(HET0016) with an IC50 of 38 nM.1 Publication

<p>This subsection of the 'Function' section describes biophysical and chemical properties, such as maximal absorption, kinetic parameters, pH dependence, redox potentials and temperature dependence.<p><a href='/help/biophysicochemical_properties' target='_top'>More...</a></p>Kineticsi

Vmax is nearly the same for myristic acid and for lauric acid and reduced about 30% for palmitic acid.1 Publication
  1. KM=65 µM for myristic acid1 Publication
  2. KM=140 µM for lauric acid1 Publication
  3. KM=430 µM for palmitic acid1 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: fatty acid metabolism

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

    Sites

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei329Heme (covalent; via 1 link)By similarity1
    <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 bindingi467Iron (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 processLipid metabolism, Sensory transduction, Vision
    LigandHeme, Iron, Metal-binding, NADP

    Enzyme and pathway databases

    BRENDA Comprehensive Enzyme Information System

    More...
    BRENDAi
    1.14.13.199 2681

    Reactome - a knowledgebase of biological pathways and processes

    More...
    Reactomei
    R-HSA-211976 Endogenous sterols
    R-HSA-2453902 The canonical retinoid cycle in rods (twilight vision)

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

    More...
    UniPathwayi
    UPA00199

    Chemistry databases

    SwissLipids knowledge resource for lipid biology

    More...
    SwissLipidsi
    SLP:000000542

    <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 4V2
    Alternative name(s):
    Docosahexaenoic acid omega-hydroxylase CYP4V21 Publication (EC:1.14.14.791 Publication)
    Long-chain fatty acid omega-monooxygenase1 Publication (EC:1.14.14.801 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:CYP4V2
    <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 4

    Organism-specific databases

    Eukaryotic Pathogen Database Resources

    More...
    EuPathDBi
    HostDB:ENSG00000145476.15

    Human Gene Nomenclature Database

    More...
    HGNCi
    HGNC:23198 CYP4V2

    Online Mendelian Inheritance in Man (OMIM)

    More...
    MIMi
    608614 gene

    neXtProt; the human protein knowledge platform

    More...
    neXtProti
    NX_Q6ZWL3

    <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>Transmembranei13 – 33HelicalSequence analysisAdd BLAST21

    Keywords - Cellular componenti

    Endoplasmic reticulum, Membrane

    <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

    Bietti crystalline corneoretinal dystrophy (BCD)2 Publications
    The disease is caused by mutations affecting the gene represented in this entry.
    Disease descriptionAn autosomal recessive ocular disease characterized by retinal degeneration and marginal corneal dystrophy. Typical features include multiple glistening intraretinal crystals scattered over the fundus, a characteristic degeneration of the retina, and sclerosis of the choroidal vessels, ultimately resulting in progressive night blindness and constriction of the visual field. Most patients have similar crystals at the corneoscleral limbus. Patients develop decreased vision, nyctalopia, and paracentral scotomata between the 2nd and 4th decade of life. Later, they develop peripheral visual field loss and marked visual impairment, usually progressing to legal blindness by the 5th or 6th decade of life.
    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_02308444W → R in BCD. 1 PublicationCorresponds to variant dbSNP:rs119103282EnsemblClinVar.1
    Natural variantiVAR_02308561G → S in BCD. 1 PublicationCorresponds to variant dbSNP:rs119103285EnsemblClinVar.1
    Natural variantiVAR_02308679E → D in BCD. 1 PublicationCorresponds to variant dbSNP:rs199476185EnsemblClinVar.1
    Natural variantiVAR_023087111I → T in BCD. 1 PublicationCorresponds to variant dbSNP:rs119103283EnsemblClinVar.1
    Natural variantiVAR_023088123M → V in BCD. 1 PublicationCorresponds to variant dbSNP:rs149684063EnsemblClinVar.1
    Natural variantiVAR_023089331H → P in BCD; impaired omega hydroxylase activity. 2 PublicationsCorresponds to variant dbSNP:rs199476197EnsemblClinVar.1
    Natural variantiVAR_023090341S → P in BCD. 1 PublicationCorresponds to variant dbSNP:rs199476199EnsemblClinVar.1
    Natural variantiVAR_023091508R → H in BCD. 1 PublicationCorresponds to variant dbSNP:rs119103284EnsemblClinVar.1

    Keywords - Diseasei

    Corneal dystrophy, Disease mutation

    Organism-specific databases

    DisGeNET

    More...
    DisGeNETi
    285440

    GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

    More...
    GeneReviewsi
    CYP4V2

    MalaCards human disease database

    More...
    MalaCardsi
    CYP4V2
    MIMi210370 phenotype

    Open Targets

    More...
    OpenTargetsi
    ENSG00000145476

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

    More...
    Orphaneti
    41751 Bietti crystalline dystrophy

    The Pharmacogenetics and Pharmacogenomics Knowledge Base

    More...
    PharmGKBi
    PA134912942

    Miscellaneous databases

    Pharos NIH Druggable Genome Knowledgebase

    More...
    Pharosi
    Q6ZWL3 Tbio

    Polymorphism and mutation databases

    BioMuta curated single-nucleotide variation and disease association database

    More...
    BioMutai
    CYP4V2

    Domain mapping of disease mutations (DMDM)

    More...
    DMDMi
    296434466

    <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_00000518591 – 525Cytochrome P450 4V2Add BLAST525

    Proteomic databases

    jPOST - Japan Proteome Standard Repository/Database

    More...
    jPOSTi
    Q6ZWL3

    MassIVE - Mass Spectrometry Interactive Virtual Environment

    More...
    MassIVEi
    Q6ZWL3

    MaxQB - The MaxQuant DataBase

    More...
    MaxQBi
    Q6ZWL3

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

    More...
    PaxDbi
    Q6ZWL3

    PeptideAtlas

    More...
    PeptideAtlasi
    Q6ZWL3

    PRoteomics IDEntifications database

    More...
    PRIDEi
    Q6ZWL3

    ProteomicsDB: a multi-organism proteome resource

    More...
    ProteomicsDBi
    68494 [Q6ZWL3-1]
    68495 [Q6ZWL3-2]

    PTM databases

    iPTMnet integrated resource for PTMs in systems biology context

    More...
    iPTMneti
    Q6ZWL3

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

    More...
    PhosphoSitePlusi
    Q6ZWL3

    <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

    Broadly expressed. Detected in heart, brain, placenta, lung, liver, skeletal muscle, kidney, pancreas, retina, retinal pigment epithelium (RPE) and lymphocytes.2 Publications

    Gene expression databases

    Bgee dataBase for Gene Expression Evolution

    More...
    Bgeei
    ENSG00000145476 Expressed in liver and 197 other tissues

    Organism-specific databases

    Human Protein Atlas

    More...
    HPAi
    ENSG00000145476 Tissue enhanced (liver)

    <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)

    More...
    BioGRIDi
    130113, 7 interactors

    Protein interaction database and analysis system

    More...
    IntActi
    Q6ZWL3, 4 interactors

    STRING: functional protein association networks

    More...
    STRINGi
    9606.ENSP00000368079

    Miscellaneous databases

    RNAct, Protein-RNA interaction predictions for model organisms.

    More...
    RNActi
    Q6ZWL3 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

    More...
    SMRi
    Q6ZWL3

    Database of comparative protein structure models

    More...
    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

    More...
    eggNOGi
    KOG0157 Eukaryota
    COG2124 LUCA

    Ensembl GeneTree

    More...
    GeneTreei
    ENSGT00940000157278

    The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

    More...
    HOGENOMi
    CLU_001570_5_1_1

    InParanoid: Eukaryotic Ortholog Groups

    More...
    InParanoidi
    Q6ZWL3

    KEGG Orthology (KO)

    More...
    KOi
    K07427

    Identification of Orthologs from Complete Genome Data

    More...
    OMAi
    VPEHYEH

    Database of Orthologous Groups

    More...
    OrthoDBi
    1247045at2759

    Database for complete collections of gene phylogenies

    More...
    PhylomeDBi
    Q6ZWL3

    TreeFam database of animal gene trees

    More...
    TreeFami
    TF105088

    Family and domain databases

    Gene3D Structural and Functional Annotation of Protein Families

    More...
    Gene3Di
    1.10.630.10, 1 hit

    Integrated resource of protein families, domains and functional sites

    More...
    InterProi
    View protein in InterPro
    IPR001128 Cyt_P450
    IPR017972 Cyt_P450_CS
    IPR002401 Cyt_P450_E_grp-I
    IPR036396 Cyt_P450_sf

    Pfam protein domain database

    More...
    Pfami
    View protein in Pfam
    PF00067 p450, 1 hit

    Protein Motif fingerprint database; a protein domain database

    More...
    PRINTSi
    PR00463 EP450I
    PR00385 P450

    Superfamily database of structural and functional annotation

    More...
    SUPFAMi
    SSF48264 SSF48264, 1 hit

    PROSITE; a protein domain and family database

    More...
    PROSITEi
    View protein in PROSITE
    PS00086 CYTOCHROME_P450, 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>Sequences (2)i

    <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.

    This entry describes 2 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
    Isoform 1 (identifier: Q6ZWL3-1) [UniParc]FASTAAdd to basket

    This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide
            10         20         30         40         50
    MAGLWLGLVW QKLLLWGAAS ALSLAGASLV LSLLQRVASY ARKWQQMRPI
    60 70 80 90 100
    PTVARAYPLV GHALLMKPDG REFFQQIIEY TEEYRHMPLL KLWVGPVPMV
    110 120 130 140 150
    ALYNAENVEV ILTSSKQIDK SSMYKFLEPW LGLGLLTSTG NKWRSRRKML
    160 170 180 190 200
    TPTFHFTILE DFLDIMNEQA NILVKKLEKH INQEAFNCFF YITLCALDII
    210 220 230 240 250
    CETAMGKNIG AQSNDDSEYV RAVYRMSEMI FRRIKMPWLW LDLWYLMFKE
    260 270 280 290 300
    GWEHKKSLQI LHTFTNSVIA ERANEMNANE DCRGDGRGSA PSKNKRRAFL
    310 320 330 340 350
    DLLLSVTDDE GNRLSHEDIR EEVDTFMFEG HDTTAAAINW SLYLLGSNPE
    360 370 380 390 400
    VQKKVDHELD DVFGKSDRPA TVEDLKKLRY LECVIKETLR LFPSVPLFAR
    410 420 430 440 450
    SVSEDCEVAG YRVLKGTEAV IIPYALHRDP RYFPNPEEFQ PERFFPENAQ
    460 470 480 490 500
    GRHPYAYVPF SAGPRNCIGQ KFAVMEEKTI LSCILRHFWI ESNQKREELG
    510 520
    LEGQLILRPS NGIWIKLKRR NADER
    Length:525
    Mass (Da):60,724
    Last modified:May 18, 2010 - 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:iA26F0A517C9569AD
    GO
    Isoform 2 (identifier: Q6ZWL3-2) [UniParc]FASTAAdd to basket

    The sequence of this isoform differs from the canonical sequence as follows:
         42-63: Missing.

    Show »
    Length:503
    Mass (Da):58,166
    Checksum:i117B6B2EC969AF96
    GO

    Natural variant

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Natural variantiVAR_03860622L → V1 PublicationCorresponds to variant dbSNP:rs1055138EnsemblClinVar.1
    Natural variantiVAR_02308444W → R in BCD. 1 PublicationCorresponds to variant dbSNP:rs119103282EnsemblClinVar.1
    Natural variantiVAR_02308561G → S in BCD. 1 PublicationCorresponds to variant dbSNP:rs119103285EnsemblClinVar.1
    Natural variantiVAR_02308679E → D in BCD. 1 PublicationCorresponds to variant dbSNP:rs199476185EnsemblClinVar.1
    Natural variantiVAR_023087111I → T in BCD. 1 PublicationCorresponds to variant dbSNP:rs119103283EnsemblClinVar.1
    Natural variantiVAR_023088123M → V in BCD. 1 PublicationCorresponds to variant dbSNP:rs149684063EnsemblClinVar.1
    Natural variantiVAR_038607213S → N1 PublicationCorresponds to variant dbSNP:rs34331648EnsemblClinVar.1
    Natural variantiVAR_033821259Q → K3 PublicationsCorresponds to variant dbSNP:rs13146272EnsemblClinVar.1
    Natural variantiVAR_055379275E → K1 PublicationCorresponds to variant dbSNP:rs34745240EnsemblClinVar.1
    Natural variantiVAR_023089331H → P in BCD; impaired omega hydroxylase activity. 2 PublicationsCorresponds to variant dbSNP:rs199476197EnsemblClinVar.1
    Natural variantiVAR_023090341S → P in BCD. 1 PublicationCorresponds to variant dbSNP:rs199476199EnsemblClinVar.1
    Natural variantiVAR_055380372V → I1 PublicationCorresponds to variant dbSNP:rs61755911EnsemblClinVar.1
    Natural variantiVAR_055381443R → Q1 PublicationCorresponds to variant dbSNP:rs72646291EnsemblClinVar.1
    Natural variantiVAR_023091508R → H in BCD. 1 PublicationCorresponds to variant dbSNP:rs119103284EnsemblClinVar.1

    Alternative sequence

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_01491842 – 63Missing in isoform 2. 1 PublicationAdd BLAST22

    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

    More...
    DDBJi
    Links Updated
    AY422002 mRNA Translation: AAR31180.1
    AK122600 mRNA Translation: BAC85487.1
    AK126473 mRNA Translation: BAC86562.1
    FJ440682 Genomic DNA Translation: ACK44069.1
    AC110771 Genomic DNA No translation available.
    BC060857 mRNA Translation: AAH60857.1

    The Consensus CDS (CCDS) project

    More...
    CCDSi
    CCDS34119.1 [Q6ZWL3-1]

    NCBI Reference Sequences

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    RefSeqi
    NP_997235.3, NM_207352.3 [Q6ZWL3-1]

    Genome annotation databases

    Ensembl eukaryotic genome annotation project

    More...
    Ensembli
    ENST00000378802; ENSP00000368079; ENSG00000145476 [Q6ZWL3-1]

    Database of genes from NCBI RefSeq genomes

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    GeneIDi
    285440

    KEGG: Kyoto Encyclopedia of Genes and Genomes

    More...
    KEGGi
    hsa:285440

    UCSC genome browser

    More...
    UCSCi
    uc003iyw.5 human [Q6ZWL3-1]

    Keywords - Coding sequence diversityi

    Alternative splicing, 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

    NIEHS-SNPs

    Sequence databases

    Select the link destinations:
    EMBLi
    GenBanki
    DDBJi
    Links Updated
    AY422002 mRNA Translation: AAR31180.1
    AK122600 mRNA Translation: BAC85487.1
    AK126473 mRNA Translation: BAC86562.1
    FJ440682 Genomic DNA Translation: ACK44069.1
    AC110771 Genomic DNA No translation available.
    BC060857 mRNA Translation: AAH60857.1
    CCDSiCCDS34119.1 [Q6ZWL3-1]
    RefSeqiNP_997235.3, NM_207352.3 [Q6ZWL3-1]

    3D structure databases

    SMRiQ6ZWL3
    ModBaseiSearch...

    Protein-protein interaction databases

    BioGRIDi130113, 7 interactors
    IntActiQ6ZWL3, 4 interactors
    STRINGi9606.ENSP00000368079

    Chemistry databases

    SwissLipidsiSLP:000000542

    PTM databases

    iPTMnetiQ6ZWL3
    PhosphoSitePlusiQ6ZWL3

    Polymorphism and mutation databases

    BioMutaiCYP4V2
    DMDMi296434466

    Proteomic databases

    jPOSTiQ6ZWL3
    MassIVEiQ6ZWL3
    MaxQBiQ6ZWL3
    PaxDbiQ6ZWL3
    PeptideAtlasiQ6ZWL3
    PRIDEiQ6ZWL3
    ProteomicsDBi68494 [Q6ZWL3-1]
    68495 [Q6ZWL3-2]

    Protocols and materials databases

    Antibodypedia a portal for validated antibodies

    More...
    Antibodypediai
    29101 197 antibodies

    Genome annotation databases

    EnsembliENST00000378802; ENSP00000368079; ENSG00000145476 [Q6ZWL3-1]
    GeneIDi285440
    KEGGihsa:285440
    UCSCiuc003iyw.5 human [Q6ZWL3-1]

    Organism-specific databases

    Comparative Toxicogenomics Database

    More...
    CTDi
    285440
    DisGeNETi285440
    EuPathDBiHostDB:ENSG00000145476.15

    GeneCards: human genes, protein and diseases

    More...
    GeneCardsi
    CYP4V2
    GeneReviewsiCYP4V2
    HGNCiHGNC:23198 CYP4V2
    HPAiENSG00000145476 Tissue enhanced (liver)
    MalaCardsiCYP4V2
    MIMi210370 phenotype
    608614 gene
    neXtProtiNX_Q6ZWL3
    OpenTargetsiENSG00000145476
    Orphaneti41751 Bietti crystalline dystrophy
    PharmGKBiPA134912942

    GenAtlas: human gene database

    More...
    GenAtlasi
    Search...

    Phylogenomic databases

    eggNOGiKOG0157 Eukaryota
    COG2124 LUCA
    GeneTreeiENSGT00940000157278
    HOGENOMiCLU_001570_5_1_1
    InParanoidiQ6ZWL3
    KOiK07427
    OMAiVPEHYEH
    OrthoDBi1247045at2759
    PhylomeDBiQ6ZWL3
    TreeFamiTF105088

    Enzyme and pathway databases

    UniPathwayiUPA00199
    BRENDAi1.14.13.199 2681
    ReactomeiR-HSA-211976 Endogenous sterols
    R-HSA-2453902 The canonical retinoid cycle in rods (twilight vision)

    Miscellaneous databases

    BioGRID ORCS database of CRISPR phenotype screens

    More...
    BioGRID-ORCSi
    285440 1 hit in 786 CRISPR screens

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

    More...
    ChiTaRSi
    CYP4V2 human

    The Gene Wiki collection of pages on human genes and proteins

    More...
    GeneWikii
    CYP4V2

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

    More...
    GenomeRNAii
    285440
    PharosiQ6ZWL3 Tbio

    Protein Ontology

    More...
    PROi
    PR:Q6ZWL3
    RNActiQ6ZWL3 protein

    The Stanford Online Universal Resource for Clones and ESTs

    More...
    SOURCEi
    Search...

    Gene expression databases

    BgeeiENSG00000145476 Expressed in liver and 197 other tissues

    Family and domain databases

    Gene3Di1.10.630.10, 1 hit
    InterProiView protein in InterPro
    IPR001128 Cyt_P450
    IPR017972 Cyt_P450_CS
    IPR002401 Cyt_P450_E_grp-I
    IPR036396 Cyt_P450_sf
    PfamiView protein in Pfam
    PF00067 p450, 1 hit
    PRINTSiPR00463 EP450I
    PR00385 P450
    SUPFAMiSSF48264 SSF48264, 1 hit
    PROSITEiView protein in PROSITE
    PS00086 CYTOCHROME_P450, 1 hit

    ProtoNet; Automatic hierarchical classification of proteins

    More...
    ProtoNeti
    Search...

    MobiDB: a database of protein disorder and mobility annotations

    More...
    MobiDBi
    Search...

    <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 nameiCP4V2_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: Q6ZWL3
    Secondary accession number(s): B7U6W2, Q6ZTM4
    <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: August 2, 2005
    Last sequence update: May 18, 2010
    Last modified: June 17, 2020
    This is version 158 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 4
      Human chromosome 4: entries, gene names and cross-references to MIM
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