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UniProtKB - Q7Z449 (CP2U1_HUMAN)

Entry version 155 (11 Dec 2019)
Sequence version 1 (01 Oct 2003)
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Protein

Cytochrome P450 2U1

Gene

CYP2U1

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

Catalyzes the hydroxylation of arachidonic acid, docosahexaenoic acid and other long chain fatty acids. May modulate the arachidonic acid signaling pathway and play a role in other fatty acid signaling processes.1 Publication

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">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 ‘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

  1. KM=2.7 µM for arachidonic acid

    Sites

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the <a href="http://www.uniprot.org/help/function_section">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 bindingi490Iron (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

    Complete GO annotation on QuickGO ...

    GO - Biological processi

    Complete GO annotation on QuickGO ...

    <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
    LigandHeme, Iron, Metal-binding

    Enzyme and pathway databases

    Reactome - a knowledgebase of biological pathways and processes

    More...    Reactomei    		R-HSA-211958 Miscellaneous substrates
    R-HSA-2142816 Synthesis of (16-20)-hydroxyeicosatetraenoic acids (HETE)
    R-HSA-5579011 Defective CYP2U1 causes Spastic paraplegia 56, autosomal recessive (SPG56)

    SABIO-RK: Biochemical Reaction Kinetics Database

    More...    SABIO-RKi    		Q7Z449

    Chemistry databases

    SwissLipids knowledge resource for lipid biology

    More...    SwissLipidsi    		SLP:000001048

    <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_and_taxonomy_section">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 2U1 (EC:1.14.14.1)
    <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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:CYP2U1
    <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
    <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_manual">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:ENSG00000155016.17

    Human Gene Nomenclature Database

    More...    HGNCi    		HGNC:20582 CYP2U1

    Online Mendelian Inheritance in Man (OMIM)

    More...    MIMi    		610670 gene

    neXtProt; the human protein knowledge platform

    More...    neXtProti    		NX_Q7Z449

    <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_location_section">'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>Transmembranei30 – 50HelicalSequence analysisAdd BLAST21
    Transmembranei113 – 133HelicalSequence analysisAdd BLAST21
    Transmembranei261 – 281HelicalSequence analysisAdd BLAST21
    Transmembranei342 – 362HelicalSequence analysisAdd BLAST21
    Transmembranei495 – 515HelicalSequence 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 56, autosomal recessive (SPG56)1 Publication
    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. Complicated forms are recognized by additional variable features including spastic quadriparesis, seizures, dementia, amyotrophy, extrapyramidal disturbance, cerebral or cerebellar atrophy, optic atrophy, and peripheral neuropathy, as well as by extra neurological manifestations. In SPG56, upper limbs are often also affected. Some SPG56 patients may have a subclinical axonal neuropathy.
    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_069575262C → R in SPG56. 1 PublicationCorresponds to variant dbSNP:rs397514515EnsemblClinVar.1
    Natural variantiVAR_069576316D → V in SPG56. 1 PublicationCorresponds to variant dbSNP:rs397514513EnsemblClinVar.1
    Natural variantiVAR_069577380E → G in SPG56. 1 PublicationCorresponds to variant dbSNP:rs397514514EnsemblClinVar.1
    Natural variantiVAR_069578488R → W in SPG56. 1 PublicationCorresponds to variant dbSNP:rs141431913EnsemblClinVar.1

    Keywords - Diseasei

    Disease mutation, Hereditary spastic paraplegia, Neurodegeneration

    Organism-specific databases

    DisGeNET

    More...    DisGeNETi    		113612

    MalaCards human disease database

    More...    MalaCardsi    		CYP2U1
    MIMi615030 phenotype

    Open Targets

    More...    OpenTargetsi    		ENSG00000155016

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

    More...    Orphaneti    		320411 Autosomal recessive spastic paraplegia type 56

    The Pharmacogenetics and Pharmacogenomics Knowledge Base

    More...    PharmGKBi    		PA134924269

    Miscellaneous databases

    Pharos NIH Druggable Genome Knowledgebase

    More...    Pharosi    		Q7Z449 Tbio

    Polymorphism and mutation databases

    BioMuta curated single-nucleotide variation and disease association database

    More...    BioMutai    		CYP2U1

    Domain mapping of disease mutations (DMDM)

    More...    DMDMi    		74762432

    <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.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002917561 – 544Cytochrome P450 2U1Add BLAST544

    Proteomic databases

    Encyclopedia of Proteome Dynamics

    More...    EPDi    		Q7Z449

    jPOST - Japan Proteome Standard Repository/Database

    More...    jPOSTi    		Q7Z449

    MassIVE - Mass Spectrometry Interactive Virtual Environment

    More...    MassIVEi    		Q7Z449

    MaxQB - The MaxQuant DataBase

    More...    MaxQBi    		Q7Z449

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

    More...    PaxDbi    		Q7Z449

    PeptideAtlas

    More...    PeptideAtlasi    		Q7Z449

    PRoteomics IDEntifications database

    More...    PRIDEi    		Q7Z449

    ProteomicsDB: a multi-organism proteome resource

    More...    ProteomicsDBi    		69149 [Q7Z449-1]
    69150 [Q7Z449-2]

    PTM databases

    iPTMnet integrated resource for PTMs in systems biology context

    More...    iPTMneti    		Q7Z449

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

    More...    PhosphoSitePlusi    		Q7Z449

    <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 with stronger expression in thymus, heart and cerebellum.3 Publications

    <p>This subsection of the ‘Expression’ section provides information on the expression of the gene product at various stages of a cell, tissue or organism development. By default, the information is derived from experiments at the mRNA level, unless specified ‘at the protein level’.<p><a href='/help/developmental_stage' target='_top'>More...</a></p>Developmental stagei

    Expressed in fetal thymus.2 Publications

    Gene expression databases

    Bgee dataBase for Gene Expression Evolution

    More...    Bgeei    		ENSG00000155016 Expressed in 189 organ(s), highest expression level in thymus

    ExpressionAtlas, Differential and Baseline Expression

    More...    ExpressionAtlasi    		Q7Z449 baseline and differential

    Genevisible search portal to normalized and curated expression data from Genevestigator

    More...    Genevisiblei    		Q7Z449 HS

    Organism-specific databases

    Human Protein Atlas

    More...    HPAi    		HPA041622
    HPA046754
    HPA064827

    <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

    Protein interaction database and analysis system

    More...    IntActi    		Q7Z449, 1 interactor

    STRING: functional protein association networks

    More...    STRINGi    		9606.ENSP00000333212

    Miscellaneous databases

    RNAct, Protein-RNA interaction predictions for model organisms.

    More...    RNActi    		Q7Z449 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    		Q7Z449

    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    		KOG0156 Eukaryota
    COG2124 LUCA

    Ensembl GeneTree

    More...    GeneTreei    		ENSGT00940000157714

    The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

    More...    HOGENOMi    		HOG000036991

    InParanoid: Eukaryotic Ortholog Groups

    More...    InParanoidi    		Q7Z449

    KEGG Orthology (KO)

    More...    KOi    		K07422

    Identification of Orthologs from Complete Genome Data

    More...    OMAi    		KQRKFCH

    Database of Orthologous Groups

    More...    OrthoDBi    		702827at2759

    Database for complete collections of gene phylogenies

    More...    PhylomeDBi    		Q7Z449

    TreeFam database of animal gene trees

    More...    TreeFami    		TF352043

    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
    IPR008069 Cyt_P450_E_grp-I_CYP2D-like
    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
    PR01686 EP450ICYP2D
    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_length">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_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

    This entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

    Isoform 1 (identifier: Q7Z449-1) [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
    MSSPGPSQPP AEDPPWPARL LRAPLGLLRL DPSGGALLLC GLVALLGWSW 
            60         70         80         90        100
    LRRRRARGIP PGPTPWPLVG NFGHVLLPPF LRRRSWLSSR TRAAGIDPSV 
           110        120        130        140        150
    IGPQVLLAHL ARVYGSIFSF FIGHYLVVVL SDFHSVREAL VQQAEVFSDR 
           160        170        180        190        200
    PRVPLISIVT KEKGVVFAHY GPVWRQQRKF SHSTLRHFGL GKLSLEPKII 
           210        220        230        240        250
    EEFKYVKAEM QKHGEDPFCP FSIISNAVSN IICSLCFGQR FDYTNSEFKK 
           260        270        280        290        300
    MLGFMSRGLE ICLNSQVLLV NICPWLYYLP FGPFKELRQI EKDITSFLKK 
           310        320        330        340        350
    IIKDHQESLD RENPQDFIDM YLLHMEEERK NNSNSSFDEE YLFYIIGDLF 
           360        370        380        390        400
    IAGTDTTTNS LLWCLLYMSL NPDVQEKVHE EIERVIGANR APSLTDKAQM 
           410        420        430        440        450
    PYTEATIMEV QRLTVVVPLA IPHMTSENTV LQGYTIPKGT LILPNLWSVH 
           460        470        480        490        500
    RDPAIWEKPE DFYPNRFLDD QGQLIKKETF IPFGIGKRVC MGEQLAKMEL 
           510        520        530        540 
    FLMFVSLMQS FAFALPEDSK KPLLTGRFGL TLAPHPFNIT ISRR
    Length:544
    Mass (Da):61,987
    Last modified:October 1, 2003 - v1
    <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:i01A0729318605770
    GO
    Isoform 2 (identifier: Q7Z449-2) [UniParc]FASTAAdd to basket

    The sequence of this isoform differs from the canonical sequence as follows:
         164-168: GVVFA → ELFQE
         169-544: Missing.

    Show »
    Length:168
    Mass (Da):18,578
    Checksum:i1155F0747E11BAFC
    GO

    <p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

    There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
    EntryEntry nameProtein names
    		Gene namesLengthAnnotation
    E9PGH5E9PGH5_HUMAN
    Cytochrome P450 2U1
    CYP2U1
    		335Annotation score:

    Annotation score:1 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>

    Natural variant

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Natural variantiVAR_069575262C → R in SPG56. 1 PublicationCorresponds to variant dbSNP:rs397514515EnsemblClinVar.1
    Natural variantiVAR_069576316D → V in SPG56. 1 PublicationCorresponds to variant dbSNP:rs397514513EnsemblClinVar.1
    Natural variantiVAR_069577380E → G in SPG56. 1 PublicationCorresponds to variant dbSNP:rs397514514EnsemblClinVar.1
    Natural variantiVAR_069578488R → W in SPG56. 1 PublicationCorresponds to variant dbSNP:rs141431913EnsemblClinVar.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_026222164 – 168GVVFA → ELFQE in isoform 2. 1 Publication5
    Alternative sequenceiVSP_026223169 – 544Missing in isoform 2. 1 PublicationAdd BLAST376

    Sequence databases

    Select the link destinations:

    EMBL nucleotide sequence database

    More...    EMBLi

    GenBank nucleotide sequence database

    More...    GenBanki

    DNA Data Bank of Japan; a nucleotide sequence database

    More...    DDBJi
    Links Updated
    		AY343323 mRNA Translation: AAQ21380.1
    CH471057 Genomic DNA Translation: EAX06216.1
    BC012027 mRNA Translation: AAH12027.1
    BC132767 mRNA Translation: AAI32768.1
    BC136483 mRNA Translation: AAI36484.1

    The Consensus CDS (CCDS) project

    More...    CCDSi    		CCDS34047.1 [Q7Z449-1]

    NCBI Reference Sequences

    More...    RefSeqi    		NP_898898.1, NM_183075.2 [Q7Z449-1]

    Genome annotation databases

    Ensembl eukaryotic genome annotation project

    More...    Ensembli    		ENST00000332884; ENSP00000333212; ENSG00000155016 [Q7Z449-1]

    Database of genes from NCBI RefSeq genomes

    More...    GeneIDi    		113612

    KEGG: Kyoto Encyclopedia of Genes and Genomes

    More...    KEGGi    		hsa:113612

    UCSC genome browser

    More...    UCSCi    		uc003hyp.4 human [Q7Z449-1]

    Keywords - Coding sequence diversityi

    Alternative splicing

    <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

    Sequence databases

    Select the link destinations:
    EMBLi
    GenBanki
    DDBJi
    Links Updated
    		AY343323 mRNA Translation: AAQ21380.1
    CH471057 Genomic DNA Translation: EAX06216.1
    BC012027 mRNA Translation: AAH12027.1
    BC132767 mRNA Translation: AAI32768.1
    BC136483 mRNA Translation: AAI36484.1
    CCDSiCCDS34047.1 [Q7Z449-1]
    RefSeqiNP_898898.1, NM_183075.2 [Q7Z449-1]

    3D structure databases

    SMRiQ7Z449
    ModBaseiSearch...

    Protein-protein interaction databases

    IntActiQ7Z449, 1 interactor
    STRINGi9606.ENSP00000333212

    Chemistry databases

    SwissLipidsiSLP:000001048

    PTM databases

    iPTMnetiQ7Z449
    PhosphoSitePlusiQ7Z449

    Polymorphism and mutation databases

    BioMutaiCYP2U1
    DMDMi74762432

    Proteomic databases

    EPDiQ7Z449
    jPOSTiQ7Z449
    MassIVEiQ7Z449
    MaxQBiQ7Z449
    PaxDbiQ7Z449
    PeptideAtlasiQ7Z449
    PRIDEiQ7Z449
    ProteomicsDBi69149 [Q7Z449-1]
    69150 [Q7Z449-2]

    Protocols and materials databases

    The DNASU plasmid repository

    More...    DNASUi    		113612

    Genome annotation databases

    EnsembliENST00000332884; ENSP00000333212; ENSG00000155016 [Q7Z449-1]
    GeneIDi113612
    KEGGihsa:113612
    UCSCiuc003hyp.4 human [Q7Z449-1]

    Organism-specific databases

    Comparative Toxicogenomics Database

    More...    CTDi    		113612
    DisGeNETi113612
    EuPathDBiHostDB:ENSG00000155016.17

    GeneCards: human genes, protein and diseases

    More...    GeneCardsi    		CYP2U1
    HGNCiHGNC:20582 CYP2U1
    HPAiHPA041622
    HPA046754
    HPA064827
    MalaCardsiCYP2U1
    MIMi610670 gene
    615030 phenotype
    neXtProtiNX_Q7Z449
    OpenTargetsiENSG00000155016
    Orphaneti320411 Autosomal recessive spastic paraplegia type 56
    PharmGKBiPA134924269

    GenAtlas: human gene database

    More...    GenAtlasi    		Search...

    Phylogenomic databases

    eggNOGiKOG0156 Eukaryota
    COG2124 LUCA
    GeneTreeiENSGT00940000157714
    HOGENOMiHOG000036991
    InParanoidiQ7Z449
    KOiK07422
    OMAiKQRKFCH
    OrthoDBi702827at2759
    PhylomeDBiQ7Z449
    TreeFamiTF352043

    Enzyme and pathway databases

    ReactomeiR-HSA-211958 Miscellaneous substrates
    R-HSA-2142816 Synthesis of (16-20)-hydroxyeicosatetraenoic acids (HETE)
    R-HSA-5579011 Defective CYP2U1 causes Spastic paraplegia 56, autosomal recessive (SPG56)
    SABIO-RKiQ7Z449

    Miscellaneous databases

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

    More...    ChiTaRSi    		CYP2U1 human

    The Gene Wiki collection of pages on human genes and proteins

    More...    GeneWikii    		CYP2U1

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

    More...    GenomeRNAii    		113612
    PharosiQ7Z449 Tbio

    Protein Ontology

    More...    PROi    		PR:Q7Z449
    RNActiQ7Z449 protein

    The Stanford Online Universal Resource for Clones and ESTs

    More...    SOURCEi    		Search...

    Gene expression databases

    BgeeiENSG00000155016 Expressed in 189 organ(s), highest expression level in thymus
    ExpressionAtlasiQ7Z449 baseline and differential
    GenevisibleiQ7Z449 HS

    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
    IPR008069 Cyt_P450_E_grp-I_CYP2D-like
    IPR036396 Cyt_P450_sf
    PfamiView protein in Pfam
    PF00067 p450, 1 hit
    PRINTSiPR00463 EP450I
    PR01686 EP450ICYP2D
    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 nameiCP2U1_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: Q7Z449
    Secondary accession number(s): B2RMV7, Q96EQ6
    <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_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 26, 2007
    Last sequence update: October 1, 2003
    Last modified: December 11, 2019
    This is version 155 of the entry and version 1 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. SIMILARITY comments
      Index of protein domains and families
    2. Human chromosome 4
      Human chromosome 4: entries, gene names and cross-references to MIM
    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
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