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Entry version 140 (13 Feb 2019)
Sequence version 1 (01 Mar 2003)
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Protein

Prolyl 3-hydroxylase 2

Gene

P3H2

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

Prolyl 3-hydroxylase that catalyzes the post-translational formation of 3-hydroxyproline on collagens (PubMed:18487197). Contributes to proline 3-hydroxylation of collagen COL4A1 and COL1A1 in tendons, the eye sclera and in the eye lens capsule (By similarity). Has high activity with the type IV collagen COL4A1, and lower activity with COL1A1 (PubMed:18487197). Catalyzes hydroxylation of the first Pro in Gly-Pro-Hyp sequences where Hyp is 4-hydroxyproline (PubMed:18487197). Has no activity on substrates that lack 4-hydroxyproline in the third position (PubMed:18487197).By similarity1 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

Protein has several cofactor binding sites:

<p>This subsection of the ‘Function’ 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 pyridine 2,4-dicarboxylate, an analog of 2-oxoglutarate.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

  1. KM=80 µM for 2-oxoglutarate1 Publication
  2. KM=110 µM for ascorbate1 Publication
  3. KM=0.5 µM for Fe2+1 Publication

    Sites

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the ‘Function’ 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 bindingi580Iron1
    Metal bindingi582Iron1
    Metal bindingi652Iron1
    <p>This subsection of the ‘Function’ section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei662By 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 functionDioxygenase, Oxidoreductase
    LigandIron, Metal-binding, Vitamin C

    Enzyme and pathway databases

    BRENDA Comprehensive Enzyme Information System

    More...
    BRENDAi
    1.14.11.7 2681

    Reactome - a knowledgebase of biological pathways and processes

    More...
    Reactomei
    R-HSA-1650814 Collagen biosynthesis and modifying enzymes

    <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:
    Prolyl 3-hydroxylase 2Imported (EC:1.14.11.71 Publication)
    Alternative name(s):
    Leprecan-like protein 11 Publication
    Myxoid liposarcoma-associated protein 41 Publication
    <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:P3H2Imported
    Synonyms:LEPREL11 Publication, MLAT41 Publication
    <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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    <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 3

    Organism-specific databases

    Eukaryotic Pathogen Database Resources

    More...
    EuPathDBi
    HostDB:ENSG00000090530.9

    Human Gene Nomenclature Database

    More...
    HGNCi
    HGNC:19317 P3H2

    Online Mendelian Inheritance in Man (OMIM)

    More...
    MIMi
    610341 gene

    neXtProt; the human protein knowledge platform

    More...
    neXtProti
    NX_Q8IVL5

    <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

    Keywords - Cellular componenti

    Endoplasmic reticulum, Golgi apparatus, Sarcoplasmic reticulum

    <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

    Myopia, high, with cataract and vitreoretinal degeneration (MCVD)1 Publication
    The disease is caused by mutations affecting the gene represented in this entry.
    Disease descriptionA disorder characterized by severe myopia with variable expressivity of cataract and vitreoretinal degeneration. Some patients manifest lens subluxation, lens instability and retinal detachment.
    See also OMIM:614292
    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_066637508G → V in MCVD; loss of function. 1 PublicationCorresponds to variant dbSNP:rs724159988EnsemblClinVar.1

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    DisGeNET

    More...
    DisGeNETi
    55214

    MalaCards human disease database

    More...
    MalaCardsi
    P3H2
    MIMi614292 phenotype

    Open Targets

    More...
    OpenTargetsi
    ENSG00000090530

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

    More...
    Orphaneti
    98619 Rare isolated myopia

    The Pharmacogenetics and Pharmacogenomics Knowledge Base

    More...
    PharmGKBi
    PA134922807

    Chemistry databases

    Drug and drug target database

    More...
    DrugBanki
    DB00172 L-Proline
    DB00139 Succinic acid
    DB00126 Vitamin C

    Polymorphism and mutation databases

    BioMuta curated single-nucleotide variation and disease association database

    More...
    BioMutai
    P3H2

    Domain mapping of disease mutations (DMDM)

    More...
    DMDMi
    74714365

    <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 denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 24Sequence analysisAdd BLAST24
    <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_000024035625 – 708Prolyl 3-hydroxylase 2Add BLAST684

    Amino acid modifications

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi449N-linked (GlcNAc...) asparagineSequence analysis1
    Glycosylationi549N-linked (GlcNAc...) asparagineSequence analysis1

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    Encyclopedia of Proteome Dynamics

    More...
    EPDi
    Q8IVL5

    jPOST - Japan Proteome Standard Repository/Database

    More...
    jPOSTi
    Q8IVL5

    MaxQB - The MaxQuant DataBase

    More...
    MaxQBi
    Q8IVL5

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

    More...
    PaxDbi
    Q8IVL5

    PeptideAtlas

    More...
    PeptideAtlasi
    Q8IVL5

    PRoteomics IDEntifications database

    More...
    PRIDEi
    Q8IVL5

    ProteomicsDB human proteome resource

    More...
    ProteomicsDBi
    70737

    PTM databases

    iPTMnet integrated resource for PTMs in systems biology context

    More...
    iPTMneti
    Q8IVL5

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

    More...
    PhosphoSitePlusi
    Q8IVL5

    <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

    Expression localized to the epithelia of bile ducts and to the sacroplasm of heart muscle and skeletal muscle. In the pancreas, localized to a subpopulation of Langerhans islet cells and in the salivary gland, expressed in acinar cells (at protein level) (PubMed:15063763). Expressed in adult heart, placenta, lung, liver, skeletal muscle and kidney (PubMed:15063763, PubMed:18487197). Detected in fetal heart, spleen, lung, liver skeletal muscle and kidney (PubMed:18487197).2 Publications

    Gene expression databases

    Bgee dataBase for Gene Expression Evolution

    More...
    Bgeei
    ENSG00000090530 Expressed in 158 organ(s), highest expression level in adrenal tissue

    ExpressionAtlas, Differential and Baseline Expression

    More...
    ExpressionAtlasi
    Q8IVL5 baseline and differential

    Genevisible search portal to normalized and curated expression data from Genevestigator

    More...
    Genevisiblei
    Q8IVL5 HS

    Organism-specific databases

    Human Protein Atlas

    More...
    HPAi
    HPA007890
    HPA013355

    <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
    120510, 16 interactors

    Protein interaction database and analysis system

    More...
    IntActi
    Q8IVL5, 9 interactors

    STRING: functional protein association networks

    More...
    STRINGi
    9606.ENSP00000316881

    <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

    Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

    More...
    ProteinModelPortali
    Q8IVL5

    Database of comparative protein structure models

    More...
    ModBasei
    Search...

    MobiDB: a database of protein disorder and mobility annotations

    More...
    MobiDBi
    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

    Domains and Repeats

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the ‘Family and Domains’ section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati44 – 77TPR 1Add BLAST34
    Repeati148 – 181TPR 2Add BLAST34
    Repeati210 – 243TPR 3Add BLAST34
    Repeati306 – 339TPR 4Add BLAST34
    <p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini557 – 671Fe2OG dioxygenasePROSITE-ProRule annotationAdd BLAST115

    Motif

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi705 – 708Prevents secretion from ERPROSITE-ProRule annotation4

    Compositional bias

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi93 – 99Poly-Pro7

    <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 leprecan family.Curated

    Keywords - Domaini

    Repeat, Signal, TPR repeat

    Phylogenomic databases

    evolutionary genealogy of genes: Non-supervised Orthologous Groups

    More...
    eggNOGi
    KOG4459 Eukaryota
    ENOG410XPXF LUCA

    Ensembl GeneTree

    More...
    GeneTreei
    ENSGT00940000159593

    The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

    More...
    HOGENOMi
    HOG000231087

    The HOVERGEN Database of Homologous Vertebrate Genes

    More...
    HOVERGENi
    HBG053224

    InParanoid: Eukaryotic Ortholog Groups

    More...
    InParanoidi
    Q8IVL5

    KEGG Orthology (KO)

    More...
    KOi
    K22459

    Identification of Orthologs from Complete Genome Data

    More...
    OMAi
    HCAARRP

    Database of Orthologous Groups

    More...
    OrthoDBi
    660619at2759

    Database for complete collections of gene phylogenies

    More...
    PhylomeDBi
    Q8IVL5

    TreeFam database of animal gene trees

    More...
    TreeFami
    TF320837

    Family and domain databases

    Integrated resource of protein families, domains and functional sites

    More...
    InterProi
    View protein in InterPro
    IPR005123 Oxoglu/Fe-dep_dioxygenase
    IPR039575 P3H
    IPR039838 P3H2
    IPR006620 Pro_4_hyd_alph
    IPR011990 TPR-like_helical_dom_sf

    The PANTHER Classification System

    More...
    PANTHERi
    PTHR14049 PTHR14049, 1 hit
    PTHR14049:SF1 PTHR14049:SF1, 1 hit

    Pfam protein domain database

    More...
    Pfami
    View protein in Pfam
    PF13640 2OG-FeII_Oxy_3, 1 hit

    Simple Modular Architecture Research Tool; a protein domain database

    More...
    SMARTi
    View protein in SMART
    SM00702 P4Hc, 1 hit

    Superfamily database of structural and functional annotation

    More...
    SUPFAMi
    SSF48452 SSF48452, 1 hit

    PROSITE; a protein domain and family database

    More...
    PROSITEi
    View protein in PROSITE
    PS00014 ER_TARGET, 1 hit
    PS51471 FE2OG_OXY, 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>.<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.

    <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 in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

    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 2 potential isoforms that are computationally mapped.Show allAlign All

    Isoform 1 (identifier: Q8IVL5-1) [UniParc]FASTAAdd to basket

    This isoform has been chosen as the 'canonical' 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
    MRERIWAPPL LLLLPLLLPP PLWGGPPDSP RRELELEPGP LQPFDLLYAS
    60 70 80 90 100
    GAAAYYSGDY ERAVRDLEAA LRSHRRLREI RTRCARHCAA RHPLPPPPPG
    110 120 130 140 150
    EGPGAELPLF RSLLGRARCY RSCETQRLGG PASRHRVSED VRSDFQRRVP
    160 170 180 190 200
    YNYLQRAYIK LNQLEKAVEA AHTFFVANPE HMEMQQNIEN YRATAGVEAL
    210 220 230 240 250
    QLVDREAKPH MESYNAGVKH YEADDFEMAI RHFEQALREY FVEDTECRTL
    260 270 280 290 300
    CEGPQRFEEY EYLGYKAGLY EAIADHYMQV LVCQHECVRE LATRPGRLSP
    310 320 330 340 350
    IENFLPLHYD YLQFAYYRVG EYVKALECAK AYLLCHPDDE DVLDNVDYYE
    360 370 380 390 400
    SLLDDSIDPA SIEAREDLTM FVKRHKLESE LIKSAAEGLG FSYTEPNYWI
    410 420 430 440 450
    RYGGRQDENR VPSGVNVEGA EVHGFSMGKK LSPKIDRDLR EGGPLLYENI
    460 470 480 490 500
    TFVYNSEQLN GTQRVLLDNV LSEEQCRELH SVASGIMLVG DGYRGKTSPH
    510 520 530 540 550
    TPNEKFEGAT VLKALKSGYE GRVPLKSARL FYDISEKARR IVESYFMLNS
    560 570 580 590 600
    TLYFSYTHMV CRTALSGQQD RRNDLSHPIH ADNCLLDPEA NECWKEPPAY
    610 620 630 640 650
    TFRDYSALLY MNDDFEGGEF IFTEMDAKTV TASIKPKCGR MISFSSGGEN
    660 670 680 690 700
    PHGVKAVTKG KRCAVALWFT LDPLYRELER IQADEVIAIL DQEQQGKHEL

    NINPKDEL
    Length:708
    Mass (Da):80,984
    Last modified:March 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:iB9E680C90D607291
    GO
    Isoform 2 (identifier: Q8IVL5-2) [UniParc]FASTAAdd to basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-181: Missing.

    Note: No experimental confirmation available.
    Show »
    Length:527
    Mass (Da):60,387
    Checksum:iD3B80AE780F6D8DD
    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 are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
    EntryEntry nameProtein names
    Gene namesLengthAnnotation
    C9J313C9J313_HUMAN
    Prolyl 3-hydroxylase 2
    P3H2
    137Annotation 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>
    C9JSL4C9JSL4_HUMAN
    Prolyl 3-hydroxylase 2
    P3H2
    134Annotation 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>

    <p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

    The sequence BAA91769 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

    Experimental Info

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti477R → Q in BAG51712 (PubMed:14702039).Curated1

    Natural variant

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Natural variantiVAR_066637508G → V in MCVD; loss of function. 1 PublicationCorresponds to variant dbSNP:rs724159988EnsemblClinVar.1
    Natural variantiVAR_036123613D → N in a breast cancer sample; somatic mutation. 1 Publication1

    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_0538141 – 181Missing in isoform 2. CuratedAdd BLAST181

    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
    AJ430351 mRNA Translation: CAD23039.2
    AK001580 mRNA Translation: BAA91769.1 Different initiation.
    AK056447 mRNA Translation: BAG51712.1
    AK125134 mRNA Translation: BAG54151.1
    AC016966 Genomic DNA No translation available.
    AC063939 Genomic DNA No translation available.
    AC099660 Genomic DNA No translation available.
    CH471052 Genomic DNA Translation: EAW78109.1
    CH471052 Genomic DNA Translation: EAW78110.1
    CH471052 Genomic DNA Translation: EAW78111.1
    BC005029 mRNA Translation: AAH05029.1

    The Consensus CDS (CCDS) project

    More...
    CCDSi
    CCDS3294.1 [Q8IVL5-1]
    CCDS46981.1 [Q8IVL5-2]

    NCBI Reference Sequences

    More...
    RefSeqi
    NP_001127890.1, NM_001134418.1 [Q8IVL5-2]
    NP_060662.2, NM_018192.3 [Q8IVL5-1]
    XP_011511257.1, XM_011512955.1 [Q8IVL5-2]

    UniGene gene-oriented nucleotide sequence clusters

    More...
    UniGenei
    Hs.374191

    Genome annotation databases

    Ensembl eukaryotic genome annotation project

    More...
    Ensembli
    ENST00000319332; ENSP00000316881; ENSG00000090530 [Q8IVL5-1]
    ENST00000427335; ENSP00000408947; ENSG00000090530 [Q8IVL5-2]

    Database of genes from NCBI RefSeq genomes

    More...
    GeneIDi
    55214

    KEGG: Kyoto Encyclopedia of Genes and Genomes

    More...
    KEGGi
    hsa:55214

    UCSC genome browser

    More...
    UCSCi
    uc003fsg.4 human [Q8IVL5-1]

    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

    Sequence databases

    Select the link destinations:
    EMBLi
    GenBanki
    DDBJi
    Links Updated
    AJ430351 mRNA Translation: CAD23039.2
    AK001580 mRNA Translation: BAA91769.1 Different initiation.
    AK056447 mRNA Translation: BAG51712.1
    AK125134 mRNA Translation: BAG54151.1
    AC016966 Genomic DNA No translation available.
    AC063939 Genomic DNA No translation available.
    AC099660 Genomic DNA No translation available.
    CH471052 Genomic DNA Translation: EAW78109.1
    CH471052 Genomic DNA Translation: EAW78110.1
    CH471052 Genomic DNA Translation: EAW78111.1
    BC005029 mRNA Translation: AAH05029.1
    CCDSiCCDS3294.1 [Q8IVL5-1]
    CCDS46981.1 [Q8IVL5-2]
    RefSeqiNP_001127890.1, NM_001134418.1 [Q8IVL5-2]
    NP_060662.2, NM_018192.3 [Q8IVL5-1]
    XP_011511257.1, XM_011512955.1 [Q8IVL5-2]
    UniGeneiHs.374191

    3D structure databases

    ProteinModelPortaliQ8IVL5
    ModBaseiSearch...
    MobiDBiSearch...

    Protein-protein interaction databases

    BioGridi120510, 16 interactors
    IntActiQ8IVL5, 9 interactors
    STRINGi9606.ENSP00000316881

    Chemistry databases

    DrugBankiDB00172 L-Proline
    DB00139 Succinic acid
    DB00126 Vitamin C

    PTM databases

    iPTMnetiQ8IVL5
    PhosphoSitePlusiQ8IVL5

    Polymorphism and mutation databases

    BioMutaiP3H2
    DMDMi74714365

    Proteomic databases

    EPDiQ8IVL5
    jPOSTiQ8IVL5
    MaxQBiQ8IVL5
    PaxDbiQ8IVL5
    PeptideAtlasiQ8IVL5
    PRIDEiQ8IVL5
    ProteomicsDBi70737

    Protocols and materials databases

    Structural Biology KnowledgebaseSearch...

    Genome annotation databases

    EnsembliENST00000319332; ENSP00000316881; ENSG00000090530 [Q8IVL5-1]
    ENST00000427335; ENSP00000408947; ENSG00000090530 [Q8IVL5-2]
    GeneIDi55214
    KEGGihsa:55214
    UCSCiuc003fsg.4 human [Q8IVL5-1]

    Organism-specific databases

    Comparative Toxicogenomics Database

    More...
    CTDi
    55214
    DisGeNETi55214
    EuPathDBiHostDB:ENSG00000090530.9

    GeneCards: human genes, protein and diseases

    More...
    GeneCardsi
    P3H2
    HGNCiHGNC:19317 P3H2
    HPAiHPA007890
    HPA013355
    MalaCardsiP3H2
    MIMi610341 gene
    614292 phenotype
    neXtProtiNX_Q8IVL5
    OpenTargetsiENSG00000090530
    Orphaneti98619 Rare isolated myopia
    PharmGKBiPA134922807

    GenAtlas: human gene database

    More...
    GenAtlasi
    Search...

    Phylogenomic databases

    eggNOGiKOG4459 Eukaryota
    ENOG410XPXF LUCA
    GeneTreeiENSGT00940000159593
    HOGENOMiHOG000231087
    HOVERGENiHBG053224
    InParanoidiQ8IVL5
    KOiK22459
    OMAiHCAARRP
    OrthoDBi660619at2759
    PhylomeDBiQ8IVL5
    TreeFamiTF320837

    Enzyme and pathway databases

    BRENDAi1.14.11.7 2681
    ReactomeiR-HSA-1650814 Collagen biosynthesis and modifying enzymes

    Miscellaneous databases

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

    More...
    ChiTaRSi
    P3H2 human

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

    More...
    GenomeRNAii
    55214

    Protein Ontology

    More...
    PROi
    PR:Q8IVL5

    The Stanford Online Universal Resource for Clones and ESTs

    More...
    SOURCEi
    Search...

    Gene expression databases

    BgeeiENSG00000090530 Expressed in 158 organ(s), highest expression level in adrenal tissue
    ExpressionAtlasiQ8IVL5 baseline and differential
    GenevisibleiQ8IVL5 HS

    Family and domain databases

    InterProiView protein in InterPro
    IPR005123 Oxoglu/Fe-dep_dioxygenase
    IPR039575 P3H
    IPR039838 P3H2
    IPR006620 Pro_4_hyd_alph
    IPR011990 TPR-like_helical_dom_sf
    PANTHERiPTHR14049 PTHR14049, 1 hit
    PTHR14049:SF1 PTHR14049:SF1, 1 hit
    PfamiView protein in Pfam
    PF13640 2OG-FeII_Oxy_3, 1 hit
    SMARTiView protein in SMART
    SM00702 P4Hc, 1 hit
    SUPFAMiSSF48452 SSF48452, 1 hit
    PROSITEiView protein in PROSITE
    PS00014 ER_TARGET, 1 hit
    PS51471 FE2OG_OXY, 1 hit

    ProtoNet; Automatic hierarchical classification of proteins

    More...
    ProtoNeti
    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 nameiP3H2_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: Q8IVL5
    Secondary accession number(s): B3KPK0
    , B3KWI9, D3DNV8, Q9NVI2
    <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 27, 2006
    Last sequence update: March 1, 2003
    Last modified: February 13, 2019
    This is version 140 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

    Complete proteome, Reference proteome

    Documents

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