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Entry version 158 (16 Oct 2019)
Sequence version 3 (24 Nov 2009)
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Protein

Pseudouridine-5'-phosphatase

Gene

PUDP

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

Dephosphorylates pseudouridine 5'-phosphate, a potential intermediate in rRNA degradation. Pseudouridine is then excreted intact in urine.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

Mg2+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=0.38 µM for 5'-PsiMP1 Publication
  2. KM=1.5 mM for 3'-AMP1 Publication
  3. KM=5.9 mM for Fructose-6-P1 Publication
  4. KM=9.4 mM for 5'-UMP1 Publication

    Sites

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> 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 sitei14NucleophileBy similarity1
    <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 bindingi14MagnesiumBy similarity1
    Active sitei16Proton donorBy similarity1
    Metal bindingi16MagnesiumBy 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 functionHydrolase
    Biological processNucleotide metabolism
    LigandMagnesium, Metal-binding

    Enzyme and pathway databases

    Reactome - a knowledgebase of biological pathways and processes

    More...
    Reactomei
    R-HSA-73614 Pyrimidine salvage

    <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:
    Pseudouridine-5'-phosphataseImported (EC:3.1.3.96)
    Alternative name(s):
    Haloacid dehalogenase-like hydrolase domain-containing protein 1
    Haloacid dehalogenase-like hydrolase domain-containing protein 1A
    Protein GS1
    Pseudouridine-5'-monophosphatase
    Short name:
    5'-PsiMPase
    <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:PUDPImported
    Synonyms:DXF68S1E, FAM16AX, GS1, HDHD1, HDHD1A
    <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 X

    Organism-specific databases

    Human Gene Nomenclature Database

    More...
    HGNCi
    HGNC:16818 PUDP

    Online Mendelian Inheritance in Man (OMIM)

    More...
    MIMi
    306480 gene

    neXtProt; the human protein knowledge platform

    More...
    neXtProti
    NX_Q08623

    <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

    <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

    Organism-specific databases

    DisGeNET

    More...
    DisGeNETi
    8226

    Open Targets

    More...
    OpenTargetsi
    ENSG00000130021

    The Pharmacogenetics and Pharmacogenomics Knowledge Base

    More...
    PharmGKBi
    PA165756731

    Miscellaneous databases

    Pharos NIH Druggable Genome Knowledgebase

    More...
    Pharosi
    Q08623

    Polymorphism and mutation databases

    BioMuta curated single-nucleotide variation and disease association database

    More...
    BioMutai
    PUDP

    Domain mapping of disease mutations (DMDM)

    More...
    DMDMi
    269849688

    <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_00001080681 – 228Pseudouridine-5'-phosphataseAdd BLAST228

    Proteomic databases

    Encyclopedia of Proteome Dynamics

    More...
    EPDi
    Q08623

    jPOST - Japan Proteome Standard Repository/Database

    More...
    jPOSTi
    Q08623

    MassIVE - Mass Spectrometry Interactive Virtual Environment

    More...
    MassIVEi
    Q08623

    MaxQB - The MaxQuant DataBase

    More...
    MaxQBi
    Q08623

    PeptideAtlas

    More...
    PeptideAtlasi
    Q08623

    PRoteomics IDEntifications database

    More...
    PRIDEi
    Q08623

    ProteomicsDB: a multi-organism proteome resource

    More...
    ProteomicsDBi
    19089
    58634 [Q08623-1]
    58635 [Q08623-2]
    58636 [Q08623-3]

    PTM databases

    DEPOD human dephosphorylation database

    More...
    DEPODi
    Q08623

    iPTMnet integrated resource for PTMs in systems biology context

    More...
    iPTMneti
    Q08623

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

    More...
    PhosphoSitePlusi
    Q08623

    <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 reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>Inductioni

    Inhibited by low concentrations of calcium.

    Gene expression databases

    Bgee dataBase for Gene Expression Evolution

    More...
    Bgeei
    ENSG00000130021 Expressed in 219 organ(s), highest expression level in chorionic villus

    ExpressionAtlas, Differential and Baseline Expression

    More...
    ExpressionAtlasi
    Q08623 baseline and differential

    Genevisible search portal to normalized and curated expression data from Genevestigator

    More...
    Genevisiblei
    Q08623 HS

    Organism-specific databases

    Human Protein Atlas

    More...
    HPAi
    HPA072672

    <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
    113859, 10 interactors

    Protein interaction database and analysis system

    More...
    IntActi
    Q08623, 3 interactors

    STRING: functional protein association networks

    More...
    STRINGi
    9606.ENSP00000396452

    <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

    Secondary structure

    1228
    Legend: HelixTurnBeta strandPDB Structure known for this area
    Show more details

    3D structure databases

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

    More...
    SMRi
    Q08623

    Database of comparative protein structure models

    More...
    ModBasei
    Search...

    Protein Data Bank in Europe - Knowledge Base

    More...
    PDBe-KBi
    Search...

    Miscellaneous databases

    Relative evolutionary importance of amino acids within a protein sequence

    More...
    EvolutionaryTracei
    Q08623

    <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

    Phylogenomic databases

    Ensembl GeneTree

    More...
    GeneTreei
    ENSGT00390000014753

    The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

    More...
    HOGENOMi
    HOG000248341

    KEGG Orthology (KO)

    More...
    KOi
    K17623

    Identification of Orthologs from Complete Genome Data

    More...
    OMAi
    GMQVVWC

    Database of Orthologous Groups

    More...
    OrthoDBi
    1510544at2759

    Database for complete collections of gene phylogenies

    More...
    PhylomeDBi
    Q08623

    TreeFam database of animal gene trees

    More...
    TreeFami
    TF105946

    Family and domain databases

    Gene3D Structural and Functional Annotation of Protein Families

    More...
    Gene3Di
    1.10.150.240, 1 hit
    3.40.50.1000, 1 hit

    Integrated resource of protein families, domains and functional sites

    More...
    InterProi
    View protein in InterPro
    IPR036412 HAD-like_sf
    IPR006439 HAD-SF_hydro_IA
    IPR041492 HAD_2
    IPR023214 HAD_sf
    IPR023198 PGP-like_dom2

    Pfam protein domain database

    More...
    Pfami
    View protein in Pfam
    PF13419 HAD_2, 1 hit

    Superfamily database of structural and functional annotation

    More...
    SUPFAMi
    SSF56784 SSF56784, 1 hit

    TIGRFAMs; a protein family database

    More...
    TIGRFAMsi
    TIGR01509 HAD-SF-IA-v3, 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 (4+)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 4 <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 4 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

    Isoform 1 (identifier: Q08623-1) [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
    MAAPPQPVTH LIFDMDGLLL DTERLYSVVF QEICNRYDKK YSWDVKSLVM
    60 70 80 90 100
    GKKALEAAQI IIDVLQLPMS KEELVEESQT KLKEVFPTAA LMPGAEKLII
    110 120 130 140 150
    HLRKHGIPFA LATSSGSASF DMKTSRHKEF FSLFSHIVLG DDPEVQHGKP
    160 170 180 190 200
    DPDIFLACAK RFSPPPAMEK CLVFEDAPNG VEAALAAGMQ VVMVPDGNLS
    210 220
    RDLTTKATLV LNSLQDFQPE LFGLPSYE
    Length:228
    Mass (Da):25,249
    Last modified:November 24, 2009 - v3
    <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:iEF9B8CC51C122924
    GO
    Isoform 2 (identifier: Q08623-2) [UniParc]FASTAAdd to basket

    The sequence of this isoform differs from the canonical sequence as follows:
         51-93: Missing.

    Note: No experimental confirmation available.
    Show »
    Length:185
    Mass (Da):20,529
    Checksum:i6AEAE431AC9D25BB
    GO
    Isoform 3 (identifier: Q08623-3) [UniParc]FASTAAdd to basket

    The sequence of this isoform differs from the canonical sequence as follows:
         171-228: CLVFEDAPNG...PELFGLPSYE → SSIHRPRLLT...NQLLLCSDDT

    Note: No experimental confirmation available.Curated
    Show »
    Length:208
    Mass (Da):23,283
    Checksum:i9BE317B82AA8FF15
    GO
    Isoform 4 (identifier: Q08623-4) [UniParc]FASTAAdd to basket

    The sequence of this isoform differs from the canonical sequence as follows:
         20-20: L → LGYTGSIVAAASGESSRGLQSRWT

    Note: No experimental confirmation available.
    Show »
    Length:251
    Mass (Da):27,573
    Checksum:i8671CFD416181D12
    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
    E7EVH9E7EVH9_HUMAN
    Pseudouridine-5'-phosphatase
    PUDP
    191Annotation 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 AAA58622 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
    The sequence AAH12494 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
    The sequence BAD97125 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
    The sequence BAG35973 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.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 conflicti116G → R in AAH12494 (PubMed:15489334).Curated1
    Sequence conflicti153D → G in BAD97125 (PubMed:14702039).Curated1
    Sequence conflicti191V → A in AAA58622 (PubMed:1284467).Curated1
    Isoform 3 (identifier: Q08623-3)
    Sequence conflicti198C → S in BAH13339 (PubMed:14702039).Curated1

    Natural variant

    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_06109488T → M2 PublicationsCorresponds to variant dbSNP:rs1131197Ensembl.1
    Natural variantiVAR_060625165P → A. Corresponds to variant dbSNP:rs3747386Ensembl.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_04480420L → LGYTGSIVAAASGESSRGLQ SRWT in isoform 4. 1 Publication1
    Alternative sequenceiVSP_04002951 – 93Missing in isoform 2. 1 PublicationAdd BLAST43
    Alternative sequenceiVSP_042020171 – 228CLVFE…LPSYE → SSIHRPRLLTAQKCQGCRDP FSALLLLCNQLLLCSDDT in isoform 3. 1 PublicationAdd BLAST58

    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
    AK300985 mRNA Translation: BAG62605.1
    AK313155 mRNA Translation: BAG35973.1 Different initiation.
    AK223405 mRNA Translation: BAD97125.1 Different initiation.
    AK300740 mRNA Translation: BAH13339.1
    AC073583 Genomic DNA No translation available.
    CH471074 Genomic DNA Translation: EAW98748.1
    BC012494 mRNA Translation: AAH12494.1 Different initiation.
    DR156836 mRNA No translation available.
    M86934 mRNA Translation: AAA58622.1 Different initiation.

    The Consensus CDS (CCDS) project

    More...
    CCDSi
    CCDS48075.1 [Q08623-1]
    CCDS48076.1 [Q08623-4]
    CCDS55366.1 [Q08623-3]
    CCDS55367.1 [Q08623-2]

    NCBI Reference Sequences

    More...
    RefSeqi
    NP_001129037.1, NM_001135565.1 [Q08623-4]
    NP_001171606.1, NM_001178135.1 [Q08623-3]
    NP_001171607.1, NM_001178136.1 [Q08623-2]
    NP_036212.3, NM_012080.4 [Q08623-1]

    Genome annotation databases

    Ensembl eukaryotic genome annotation project

    More...
    Ensembli
    ENST00000381077; ENSP00000370467; ENSG00000130021 [Q08623-1]
    ENST00000412827; ENSP00000406260; ENSG00000130021 [Q08623-2]
    ENST00000424830; ENSP00000396452; ENSG00000130021 [Q08623-4]

    Database of genes from NCBI RefSeq genomes

    More...
    GeneIDi
    8226

    KEGG: Kyoto Encyclopedia of Genes and Genomes

    More...
    KEGGi
    hsa:8226

    UCSC genome browser

    More...
    UCSCi
    uc004crv.2 human [Q08623-1]

    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
    AK300985 mRNA Translation: BAG62605.1
    AK313155 mRNA Translation: BAG35973.1 Different initiation.
    AK223405 mRNA Translation: BAD97125.1 Different initiation.
    AK300740 mRNA Translation: BAH13339.1
    AC073583 Genomic DNA No translation available.
    CH471074 Genomic DNA Translation: EAW98748.1
    BC012494 mRNA Translation: AAH12494.1 Different initiation.
    DR156836 mRNA No translation available.
    M86934 mRNA Translation: AAA58622.1 Different initiation.
    CCDSiCCDS48075.1 [Q08623-1]
    CCDS48076.1 [Q08623-4]
    CCDS55366.1 [Q08623-3]
    CCDS55367.1 [Q08623-2]
    RefSeqiNP_001129037.1, NM_001135565.1 [Q08623-4]
    NP_001171606.1, NM_001178135.1 [Q08623-3]
    NP_001171607.1, NM_001178136.1 [Q08623-2]
    NP_036212.3, NM_012080.4 [Q08623-1]

    3D structure databases

    Select the link destinations:

    Protein Data Bank Europe

    More...
    PDBei

    Protein Data Bank RCSB

    More...
    RCSB PDBi

    Protein Data Bank Japan

    More...
    PDBji
    Links Updated
    PDB entryMethodResolution (Å)ChainPositionsPDBsum
    3L5KX-ray2.00A1-228[»]
    SMRiQ08623
    ModBaseiSearch...
    PDBe-KBiSearch...

    Protein-protein interaction databases

    BioGridi113859, 10 interactors
    IntActiQ08623, 3 interactors
    STRINGi9606.ENSP00000396452

    PTM databases

    DEPODiQ08623
    iPTMnetiQ08623
    PhosphoSitePlusiQ08623

    Polymorphism and mutation databases

    BioMutaiPUDP
    DMDMi269849688

    Proteomic databases

    EPDiQ08623
    jPOSTiQ08623
    MassIVEiQ08623
    MaxQBiQ08623
    PeptideAtlasiQ08623
    PRIDEiQ08623
    ProteomicsDBi19089
    58634 [Q08623-1]
    58635 [Q08623-2]
    58636 [Q08623-3]

    Protocols and materials databases

    The DNASU plasmid repository

    More...
    DNASUi
    8226

    Genome annotation databases

    EnsembliENST00000381077; ENSP00000370467; ENSG00000130021 [Q08623-1]
    ENST00000412827; ENSP00000406260; ENSG00000130021 [Q08623-2]
    ENST00000424830; ENSP00000396452; ENSG00000130021 [Q08623-4]
    GeneIDi8226
    KEGGihsa:8226
    UCSCiuc004crv.2 human [Q08623-1]

    Organism-specific databases

    Comparative Toxicogenomics Database

    More...
    CTDi
    8226
    DisGeNETi8226

    GeneCards: human genes, protein and diseases

    More...
    GeneCardsi
    PUDP
    HGNCiHGNC:16818 PUDP
    HPAiHPA072672
    MIMi306480 gene
    neXtProtiNX_Q08623
    OpenTargetsiENSG00000130021
    PharmGKBiPA165756731

    GenAtlas: human gene database

    More...
    GenAtlasi
    Search...

    Phylogenomic databases

    GeneTreeiENSGT00390000014753
    HOGENOMiHOG000248341
    KOiK17623
    OMAiGMQVVWC
    OrthoDBi1510544at2759
    PhylomeDBiQ08623
    TreeFamiTF105946

    Enzyme and pathway databases

    ReactomeiR-HSA-73614 Pyrimidine salvage

    Miscellaneous databases

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

    More...
    ChiTaRSi
    PUDP human
    EvolutionaryTraceiQ08623

    The Gene Wiki collection of pages on human genes and proteins

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    GeneWikii
    HDHD1A

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

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    GenomeRNAii
    8226
    PharosiQ08623

    Protein Ontology

    More...
    PROi
    PR:Q08623

    The Stanford Online Universal Resource for Clones and ESTs

    More...
    SOURCEi
    Search...

    Gene expression databases

    BgeeiENSG00000130021 Expressed in 219 organ(s), highest expression level in chorionic villus
    ExpressionAtlasiQ08623 baseline and differential
    GenevisibleiQ08623 HS

    Family and domain databases

    Gene3Di1.10.150.240, 1 hit
    3.40.50.1000, 1 hit
    InterProiView protein in InterPro
    IPR036412 HAD-like_sf
    IPR006439 HAD-SF_hydro_IA
    IPR041492 HAD_2
    IPR023214 HAD_sf
    IPR023198 PGP-like_dom2
    PfamiView protein in Pfam
    PF13419 HAD_2, 1 hit
    SUPFAMiSSF56784 SSF56784, 1 hit
    TIGRFAMsiTIGR01509 HAD-SF-IA-v3, 1 hit

    ProtoNet; Automatic hierarchical classification of proteins

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    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 nameiHDHD1_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: Q08623
    Secondary accession number(s): B2R7X6
    , B4DV93, B7Z6Q3, E9PAV8, F5GWZ2, Q53F84, Q96EB8
    <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: February 1, 1995
    Last sequence update: November 24, 2009
    Last modified: October 16, 2019
    This is version 158 of the entry and version 3 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

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    2. SIMILARITY comments
      Index of protein domains and families
    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 chromosome X
      Human chromosome X: entries, gene names and cross-references to MIM
    6. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
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