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Entry version 130 (13 Feb 2019)
Sequence version 1 (01 Oct 2000)
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Protein

PIH1 domain-containing protein 1

Gene

PIH1D1

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

Involved in the assembly of C/D box small nucleolar ribonucleoprotein (snoRNP) particles (PubMed:17636026). Recruits the SWI/SNF complex to the core promoter of rRNA genes and enhances pre-rRNA transcription (PubMed:22368283, PubMed:24036451). Mediates interaction of TELO2 with the R2TP complex which is necessary for the stability of MTOR and SMG1 (PubMed:20864032). Positively regulates the assembly and activity of the mTORC1 complex (PubMed:24036451).4 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection describes interesting single amino acid sites on the sequence that are not defined in any other subsection. This subsection can be displayed in different sections (‘Function’, ‘PTM / Processing’, ‘Pathology and Biotech’) according to its content.<p><a href='/help/site' target='_top'>More...</a></p>Sitei57Interacts with TELO21 Publication1
Sitei64Interacts with TELO21 Publication1
Sitei113Interacts with TELO2By 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

  • ATPase binding Source: UniProtKB
  • histone binding Source: UniProtKB
  • phosphoprotein binding Source: UniProtKB
  • protein kinase binding Source: UniProtKB
  • RNA polymerase I CORE element sequence-specific DNA binding Source: UniProtKB

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

Biological processTranscription, Transcription regulation

<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:
PIH1 domain-containing protein 1
Alternative name(s):
Nucleolar protein 17 homolog
<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:PIH1D1
Synonyms:NOP17
<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 19

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000104872.10

Human Gene Nomenclature Database

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HGNCi
HGNC:26075 PIH1D1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
611480 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9NWS0

<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

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi54F → A: Abolishes binding to histone H4. 1 Publication1
Mutagenesisi55C → A: No effect on binding to histone H4. 1 Publication1
Mutagenesisi57K → A: Abolishes binding to TELO2. 1 Publication1
Mutagenesisi64K → A: Abolishes binding to ECD, EFTUD2, RPB1, TELO2 and UBR5. 1 Publication1
Mutagenesisi113K → A: Reduces binding to TELO2. 1 Publication1
Mutagenesisi163R → A: Reduces binding to TELO2. 1 Publication1
Mutagenesisi166K → A: Reduces binding to TELO2. 1 Publication1
Mutagenesisi168R → A: Abolishes binding to TELO2. 1 Publication1

Organism-specific databases

DisGeNET

More...
DisGeNETi
55011

Open Targets

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OpenTargetsi
ENSG00000104872

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA162399535

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
PIH1D1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
74719379

<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_00003073281 – 290PIH1 domain-containing protein 1Add BLAST290

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei12PhosphoserineBy similarity1
Modified residuei173PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q9NWS0

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q9NWS0

MaxQB - The MaxQuant DataBase

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MaxQBi
Q9NWS0

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

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PaxDbi
Q9NWS0

PeptideAtlas

More...
PeptideAtlasi
Q9NWS0

PRoteomics IDEntifications database

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PRIDEi
Q9NWS0

ProteomicsDB human proteome resource

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ProteomicsDBi
82964

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q9NWS0

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

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PhosphoSitePlusi
Q9NWS0

<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

Expressed at low levels in normal mammary epithelial cells (at protein level) (PubMed:24036451). Highest expression in lung, leukocyte and placenta. Expressed at lower levels in brain, prostate, colon, heart, small intestine, liver, ovary, pancreas, skeletal muscle, spleen, testis and thymus (PubMed:21078300).2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000104872 Expressed in 221 organ(s), highest expression level in small intestine Peyer's patch

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q9NWS0 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q9NWS0 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA047258

<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

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Component of the R2TP complex composed at least of PIHD1, RUVBL1, RUVBL2 and RPAP3 (PubMed:20864032). Interacts with phosphorylated TELO2 and mediates interaction of TELO2 with the R2TP complex (PubMed:20864032, PubMed:24656813). Interacts with phosphorylated ECD, EFTUD2/SNRP116, RPB1 and UBR5 and with RPB1 in a phosphorylation-independent manner (PubMed:24656813). Interacts with the core C/D box snoRNP particle components NOP58 and FBL and with RUVBL1/TIP49 (PubMed:17636026). Interacts with RPAP3 and WDR92 (PubMed:21078300). Interacts with histone H4 and with SWI/SNF complex member SMARCB1/SNF5 (PubMed:22368283). Interacts with the mTORC1 complex member RPTOR (PubMed:24036451).6 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
120343, 654 interactors

Protein interaction database and analysis system

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IntActi
Q9NWS0, 69 interactors

Molecular INTeraction database

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MINTi
Q9NWS0

STRING: functional protein association networks

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STRINGi
9606.ENSP00000262265

<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

1290
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4PSFX-ray1.58A/B51-174[»]
4PSIX-ray2.45A/B51-174[»]
6GXZX-ray2.96D/E199-290[»]

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q9NWS0

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

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SMRi
Q9NWS0

Database of comparative protein structure models

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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

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The N-terminal region is required for binding to phosphorylated substrates while the C-terminal region binds to the other R2TP complex components.1 Publication

<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 PIH1 family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG4356 Eukaryota
ENOG410XQ8C LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00510000048192

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000213589

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG108251

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q9NWS0

Identification of Orthologs from Complete Genome Data

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OMAi
AYIPLRI

Database of Orthologous Groups

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OrthoDBi
1130314at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q9NWS0

TreeFam database of animal gene trees

More...
TreeFami
TF324376

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR012981 PIH1_N

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF08190 PIH1, 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 (3+)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 3 <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 3 described isoforms and 13 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9NWS0-1) [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
MANPKLLGMG LSEAEAIGAD SARFEELLLQ ASKELQQAQT TRPESTQIQP
60 70 80 90 100
QPGFCIKTNS SEGKVFINIC HSPSIPPPAD VTEEELLQML EEDQAGFRIP
110 120 130 140 150
MSLGEPHAEL DAKGQGCTAY DVAVNSDFYR RMQNSDFLRE LVITIAREGL
160 170 180 190 200
EDKYNLQLNP EWRMMKNRPF MGSISQQNIR SEQRPRIQEL GDLYTPAPGR
210 220 230 240 250
AESGPEKPHL NLWLEAPDLL LAEVDLPKLD GALGLSLEIG ENRLVMGGPQ
260 270 280 290
QLYHLDAYIP LQINSHESKA AFHRKRKQLM VAMPLLPVPS
Length:290
Mass (Da):32,363
Last modified:October 1, 2000 - 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:i074A9CD4037A4882
GO
Isoform 2 (identifier: Q9NWS0-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     31-290: ASKELQQAQT...VAMPLLPVPS → LSCIRIAPFE...ARDHHRQGGP

Show »
Length:180
Mass (Da):19,911
Checksum:iA5D8D025BB07B746
GO
Isoform 3 (identifier: Q9NWS0-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     113-290: KGQGCTAYDV...VAMPLLPVPS → SQCPQRTQES...GGLGRVLFVH

Show »
Length:199
Mass (Da):21,376
Checksum:iEFAF44E772FDD8E1
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 13 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
M0R0J2M0R0J2_HUMAN
PIH1 domain-containing protein 1
PIH1D1
82Annotation 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>
M0QXD5M0QXD5_HUMAN
PIH1 domain-containing protein 1
PIH1D1
236Annotation 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>
M0R3A8M0R3A8_HUMAN
PIH1 domain-containing protein 1
PIH1D1
115Annotation 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>
M0R2P8M0R2P8_HUMAN
PIH1 domain-containing protein 1
PIH1D1
114Annotation 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>
M0QZ61M0QZ61_HUMAN
PIH1 domain-containing protein 1
PIH1D1
54Annotation 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>
M0QYF4M0QYF4_HUMAN
PIH1 domain-containing protein 1
PIH1D1
164Annotation 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>
M0QYA2M0QYA2_HUMAN
PIH1 domain-containing protein 1
PIH1D1
273Annotation 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>
M0QZM3M0QZM3_HUMAN
PIH1 domain-containing protein 1
PIH1D1
129Annotation 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>
M0R3A4M0R3A4_HUMAN
PIH1 domain-containing protein 1
PIH1D1
183Annotation 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>
M0R028M0R028_HUMAN
PIH1 domain-containing protein 1
PIH1D1
87Annotation 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>
There are more potential isoformsShow all

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 conflicti9 – 10MG → LE in AAH01108 (PubMed:15489334).Curated2
Sequence conflicti102S → G in BAG57848 (PubMed:15489334).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_0354109M → L1 PublicationCorresponds to variant dbSNP:rs2293012Ensembl.1
Natural variantiVAR_03541110G → E1 PublicationCorresponds to variant dbSNP:rs2293013Ensembl.1
Natural variantiVAR_035412224V → I1 PublicationCorresponds to variant dbSNP:rs13394Ensembl.1
Natural variantiVAR_035413230D → E. Corresponds to variant dbSNP:rs34198213Ensembl.1
Natural variantiVAR_035414287P → L1 PublicationCorresponds to variant dbSNP:rs7462Ensembl.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_04442431 – 290ASKEL…LPVPS → LSCIRIAPFEEQMRGLMAQT PSLEVVFLYTGLEGAPASPD NQTRIDTNPASAWFLHKDQL LGREGFHQHLPLPLYPSSRR RDRGGAASDARGGPSWVSHP HESGRASCRTGCKRPGMYRL RRSCQQRLLPEDAEQRFLAG ARDHHRQGGP in isoform 2. 1 PublicationAdd BLAST260
Alternative sequenceiVSP_044425113 – 290KGQGC…LPVPS → SQCPQRTQESGPLGPFFPRT QESWAQDPPPSAPGDLAPRS DSFPYGRSLVPWTSHTRAVL VLPPGQAGTFPCPTPGPGGL GRVLFVH in isoform 3. 1 PublicationAdd BLAST178

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
AK000650 mRNA Translation: BAA91307.1
AK294687 mRNA Translation: BAG57848.1
AK304476 mRNA Translation: BAG65289.1
BC001108 mRNA Translation: AAH01108.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS12765.1 [Q9NWS0-1]

NCBI Reference Sequences

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RefSeqi
NP_060386.1, NM_017916.2 [Q9NWS0-1]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.5245

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000262265; ENSP00000262265; ENSG00000104872 [Q9NWS0-1]
ENST00000596049; ENSP00000470445; ENSG00000104872 [Q9NWS0-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
55011

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:55011

UCSC genome browser

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UCSCi
uc002pns.3 human [Q9NWS0-1]

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
AK000650 mRNA Translation: BAA91307.1
AK294687 mRNA Translation: BAG57848.1
AK304476 mRNA Translation: BAG65289.1
BC001108 mRNA Translation: AAH01108.1
CCDSiCCDS12765.1 [Q9NWS0-1]
RefSeqiNP_060386.1, NM_017916.2 [Q9NWS0-1]
UniGeneiHs.5245

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4PSFX-ray1.58A/B51-174[»]
4PSIX-ray2.45A/B51-174[»]
6GXZX-ray2.96D/E199-290[»]
ProteinModelPortaliQ9NWS0
SMRiQ9NWS0
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120343, 654 interactors
IntActiQ9NWS0, 69 interactors
MINTiQ9NWS0
STRINGi9606.ENSP00000262265

PTM databases

iPTMnetiQ9NWS0
PhosphoSitePlusiQ9NWS0

Polymorphism and mutation databases

BioMutaiPIH1D1
DMDMi74719379

Proteomic databases

EPDiQ9NWS0
jPOSTiQ9NWS0
MaxQBiQ9NWS0
PaxDbiQ9NWS0
PeptideAtlasiQ9NWS0
PRIDEiQ9NWS0
ProteomicsDBi82964

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
55011
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000262265; ENSP00000262265; ENSG00000104872 [Q9NWS0-1]
ENST00000596049; ENSP00000470445; ENSG00000104872 [Q9NWS0-1]
GeneIDi55011
KEGGihsa:55011
UCSCiuc002pns.3 human [Q9NWS0-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
55011
DisGeNETi55011
EuPathDBiHostDB:ENSG00000104872.10

GeneCards: human genes, protein and diseases

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GeneCardsi
PIH1D1
HGNCiHGNC:26075 PIH1D1
HPAiHPA047258
MIMi611480 gene
neXtProtiNX_Q9NWS0
OpenTargetsiENSG00000104872
PharmGKBiPA162399535

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG4356 Eukaryota
ENOG410XQ8C LUCA
GeneTreeiENSGT00510000048192
HOGENOMiHOG000213589
HOVERGENiHBG108251
InParanoidiQ9NWS0
OMAiAYIPLRI
OrthoDBi1130314at2759
PhylomeDBiQ9NWS0
TreeFamiTF324376

Miscellaneous databases

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

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ChiTaRSi
PIH1D1 human

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

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GenomeRNAii
55011

Protein Ontology

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PROi
PR:Q9NWS0

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000104872 Expressed in 221 organ(s), highest expression level in small intestine Peyer's patch
ExpressionAtlasiQ9NWS0 baseline and differential
GenevisibleiQ9NWS0 HS

Family and domain databases

InterProiView protein in InterPro
IPR012981 PIH1_N
PfamiView protein in Pfam
PF08190 PIH1, 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 nameiPIHD1_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: Q9NWS0
Secondary accession number(s): B4DGN7, B4E2X7, Q9BVL0
<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: October 23, 2007
Last sequence update: October 1, 2000
Last modified: February 13, 2019
This is version 130 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  2. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  3. SIMILARITY comments
    Index of protein domains and families
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  5. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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