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Protein

Polyglutamine-binding protein 1

Gene

PQBP1

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

Intrinsically disordered protein that acts as a scaffold, and which is involved in different processes, such as pre-mRNA splicing, transcription regulation, innate immunity and neuron development (PubMed:10198427, PubMed:10332029, PubMed:12062018, PubMed:20410308, PubMed:23512658). Interacts with splicing-related factors via the intrinsically disordered region and regulates alternative splicing of target pre-mRNA species (PubMed:10332029, PubMed:12062018, PubMed:23512658, PubMed:20410308). May suppress the ability of POU3F2 to transactivate the DRD1 gene in a POU3F2 dependent manner. Can activate transcription directly or via association with the transcription machinery (PubMed:10198427). May be involved in ATXN1 mutant-induced cell death (PubMed:12062018). The interaction with ATXN1 mutant reduces levels of phosphorylated RNA polymerase II large subunit (PubMed:12062018). Involved in the assembly of cytoplasmic stress granule, possibly by participating to the transport of neuronal RNA granules (PubMed:21933836). Also acts as an innate immune sensor of infection by retroviruses, such as HIV, by detecting the presence of reverse-transcribed DNA in the cytosol (PubMed:26046437). Directly binds retroviral reverse-transcribed DNA in the cytosol and interacts with CGAS, leading to activate the cGAS-STING signaling pathway, triggering type-I interferon production (PubMed:26046437).7 Publications

<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

  • DNA binding Source: ProtInc
  • double-stranded DNA binding Source: UniProtKB
  • ribonucleoprotein complex binding Source: MGI
  • transcription coactivator activity Source: ProtInc

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 processImmunity, Innate immunity, mRNA processing, mRNA splicing, Transcription, Transcription regulation

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-72163 mRNA Splicing - Major Pathway

SignaLink: a signaling pathway resource with multi-layered regulatory networks

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SignaLinki
O60828

<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:
Polyglutamine-binding protein 12 Publications
Short name:
PQBP-12 Publications
Alternative name(s):
38 kDa nuclear protein containing a WW domain1 Publication
Short name:
Npw381 Publication
Polyglutamine tract-binding protein 11 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:PQBP12 PublicationsImported
Synonyms:NPW381 Publication
ORF Names:JM26
<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

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000102103.15

Human Gene Nomenclature Database

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HGNCi
HGNC:9330 PQBP1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
300463 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_O60828

<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; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

<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

Renpenning syndrome 1 (RENS1)6 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA X-linked mental retardation syndrome characterized by mental retardation, microcephaly, short stature, and small testes. The craniofacies tends to be narrow and tall with upslanting palpebral fissures, abnormal nasal configuration, cupped ears, and short philtrum. The nose may appear long or bulbous, with overhanging columella. Less consistent manifestations include ocular colobomas, cardiac malformations, cleft palate, and anal anomalies.
See also OMIM:309500
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_07106365Y → C in RENS1; impairs interaction with WBP11, CGAS, SF3B1 and ATN1. 4 PublicationsCorresponds to variant dbSNP:rs121917899EnsemblClinVar.1

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>Mutagenesisi52W → A: Enhances transcriptional activation. Reduces transcriptional activation; when associated with A-75. Markedly reduced transcriptional activation; when associated with A-64; A-65 and A-66. Abolishes transcriptional activation; when associated with A-64; A-65; A-66 and A-75. 1 Publication1
Mutagenesisi64Y → A: No effect on transcriptional activation; when associated with A-65 and A-66. Markedly reduced transcriptional activation; when associated with A-52; A-65 and A-66. Abolishes transcriptional activation; when associated with A-52; A-65; A-66 and A-75. 1 Publication1
Mutagenesisi65Y → A: No effect on transcriptional activation; when associated with A-64 and A-66. Markedly reduced transcriptional activation; when associated with A-52; A-64 and A-66. Abolishes transcriptional activation; when associated with A-52; A-64; A-66 and A-75. 1 Publication1
Mutagenesisi66W → A: No effect on transcriptional activation; when associated with A-64 and A-65. Markedly reduced transcriptional activation; when associated with A-52; A-64 and A-65. Abolishes transcriptional activation; when associated with A-52; A-64; A-65 and A-75. 1 Publication1
Mutagenesisi75W → A: No effect on transcriptional activation. Reduces transcriptional activation; when associated with A-52. Abolishes transcriptional activation; when associated with A-52; A-64; A-65 and A-66. 1 Publication1
Mutagenesisi78P → G: No effect on transcriptional activation. 1 Publication1
Mutagenesisi245Y → D: Abolishes interaction with TXNL4A. 1 Publication1
Mutagenesisi248P → D: Abolishes interaction with TXNL4A. 1 Publication1
Mutagenesisi251V → D: Abolishes interaction with TXNL4A. 1 Publication1
Mutagenesisi252L → D: Abolishes interaction with TXNL4A. 1 Publication1
Mutagenesisi253R → D: Strongly reduces affinity for TXNL4A. 1 Publication1
Mutagenesisi255N → D: Strongly reduces affinity for TXNL4A. 1 Publication1

Keywords - Diseasei

Mental retardation

Organism-specific databases

DisGeNET

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DisGeNETi
10084

MalaCards human disease database

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MalaCardsi
PQBP1
MIMi309500 phenotype

Open Targets

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OpenTargetsi
ENSG00000102103

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

More...
Orphaneti
93946 Hamel cerebro-palato-cardiac syndrome
93947 X-linked intellectual disability, Golabi-Ito-Hall type
93945 X-linked intellectual disability, Porteous type
93950 X-linked intellectual disability, Sutherland-Haan type

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA33693

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
PQBP1

<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 <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemoved1 Publication
<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_00000760892 – 265Polyglutamine-binding protein 1Add BLAST264

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 residuei94PhosphoserineCombined sources1
Modified residuei247PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
O60828

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
O60828

MaxQB - The MaxQuant DataBase

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MaxQBi
O60828

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

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PaxDbi
O60828

PeptideAtlas

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PeptideAtlasi
O60828

PRoteomics IDEntifications database

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PRIDEi
O60828

ProteomicsDB human proteome resource

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ProteomicsDBi
49611
49612 [O60828-10]
49613 [O60828-2]
49614 [O60828-3]
49615 [O60828-4]
49616 [O60828-5]
49617 [O60828-6]
49618 [O60828-7]
49619 [O60828-8]
49620 [O60828-9]

Consortium for Top Down Proteomics

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TopDownProteomicsi
O60828-1 [O60828-1]
O60828-2 [O60828-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
O60828

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

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PhosphoSitePlusi
O60828

Miscellaneous databases

CutDB - Proteolytic event database

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PMAP-CutDBi
O60828

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Widely expressed with high level in heart, skeletal muscle, pancreas, spleen, thymus, prostate, ovary, small intestine and peripheral blood leukocytes.2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000102103 Expressed in 231 organ(s), highest expression level in ectocervix

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
O60828 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
O60828 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA001880

<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

Interacts with POU3F2/Brn-2, ATXN1, TXNL4A, HTT and AR (PubMed:10332029, PubMed:10873650, PubMed:19303059, PubMed:24781215). Interaction with ATXN1 correlates positively with the length of the polyglutamine tract (PubMed:12062018). Interacts with RNA polymerase II large subunit in a phosphorylation-dependent manner (PubMed:12062018). Forms a ternary complex with ATXN1 mutant and phosphorylated RNA polymerase II (PubMed:12062018). Interacts (via C-terminus) with TXNL4A and CD2BP2 (PubMed:10873650, PubMed:19303059, PubMed:24781215). Interacts (via WW domain) with ATN1 and SF3B1, and may interact with additional splice factors (PubMed:23512658, PubMed:20410308). Interacts (via WW domain) with WBP11; Leading to reduce interaction between PQBP1 and TXNL4A (PubMed:23512658, PubMed:20410308, PubMed:27314904). Interacts with CAPRIN1 (PubMed:21933836). Interacts with DDX1 (PubMed:21933836). Interacts with SFPQ (PubMed:21933836). Interacts with KHSRP (PubMed:21933836).10 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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
115393, 52 interactors

Protein interaction database and analysis system

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IntActi
O60828, 25 interactors

Molecular INTeraction database

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MINTi
O60828

STRING: functional protein association networks

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STRINGi
9606.ENSP00000218224

<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

1265
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
4BWQX-ray2.10B/D/F/H223-265[»]
4BWSX-ray2.50B/E229-265[»]
4CDOX-ray2.50A/C223-265[»]

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
O60828

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

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SMRi
O60828

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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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 <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>Domaini46 – 80WWPROSITE-ProRule annotationAdd BLAST35
<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>Repeati104 – 1101-17
Repeati111 – 1171-27
Repeati118 – 1241-37
Repeati125 – 1311-47
Repeati132 – 1381-57
Repeati139 – 1402-12
Repeati141 – 1422-22
Repeati143 – 1442-32
Repeati150 – 1513-12
Repeati152 – 1533-22
Repeati154 – 1553-32
Repeati156 – 1573-42
Repeati158 – 1593-52
Repeati160 – 1613-62
Repeati162 – 1633-72

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni94 – 265Intrinsically disordered1 PublicationAdd BLAST172
Regioni104 – 1385 X 7 AA approximate tandem repeats of D-R-[SG]-H-D-K-SAdd BLAST35
Regioni139 – 1443 X 2 AA tandem repeats of [DE]-R6
Regioni150 – 1637 X 2 AA tandem repeats of [DE]-RAdd BLAST14
Regioni245 – 255Important for interaction with TXNL4AAdd BLAST11

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 biasi140 – 181Arg-richAdd BLAST42

<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 WW domain may play a role as a transcriptional activator directly or via association with the transcription machinery. The WW domain mediates interaction with WBP11, ATN1, SF3B1 and the C-terminal domain of the RNA polymerase II large subunit.2 Publications
Except for the WW domain, the protein is intrinsically disordered.2 Publications

Keywords - Domaini

Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG3427 Eukaryota
ENOG4111MHA LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000153827

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000231359

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG053064

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
O60828

KEGG Orthology (KO)

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KOi
K12865

Identification of Orthologs from Complete Genome Data

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OMAi
SHEKSDR

Database of Orthologous Groups

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OrthoDBi
1547704at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
O60828

TreeFam database of animal gene trees

More...
TreeFami
TF320689

Family and domain databases

Conserved Domains Database

More...
CDDi
cd00201 WW, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR001202 WW_dom
IPR036020 WW_dom_sf

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00456 WW, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF51045 SSF51045, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50020 WW_DOMAIN_2, 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 (10+)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 10 <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 10 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: O60828-1) [UniParc]FASTAAdd to basket
Also known as: PQBP-1

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
MPLPVALQTR LAKRGILKHL EPEPEEEIIA EDYDDDPVDY EATRLEGLPP
60 70 80 90 100
SWYKVFDPSC GLPYYWNADT DLVSWLSPHD PNSVVTKSAK KLRSSNADAE
110 120 130 140 150
EKLDRSHDKS DRGHDKSDRS HEKLDRGHDK SDRGHDKSDR DRERGYDKVD
160 170 180 190 200
RERERDRERD RDRGYDKADR EEGKERRHHR REELAPYPKS KKAVSRKDEE
210 220 230 240 250
LDPMDPSSYS DAPRGTWSTG LPKRNEAKTG ADTTAAGPLF QQRPYPSPGA
260
VLRANAEASR TKQQD
Length:265
Mass (Da):30,472
Last modified:August 1, 1998 - 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:i98C3BEF18CFF0297
GO
Isoform 2 (identifier: O60828-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     193-193: Missing.

Show »
Length:264
Mass (Da):30,401
Checksum:i56BBC35A4CFB41C0
GO
Isoform 3 (identifier: O60828-3) [UniParc]FASTAAdd to basket
Also known as: PQBP-1b/c

The sequence of this isoform differs from the canonical sequence as follows:
     193-224: AVSRKDEELDPMDPSSYSDAPRGTWSTGLPKR → GKLGRMGLGETNKVQGALREEAFPQKDAWTWG
     225-265: Missing.

Show »
Length:224
Mass (Da):26,158
Checksum:i7DAC3C07D84492F0
GO
Isoform 4 (identifier: O60828-4) [UniParc]FASTAAdd to basket
Also known as: PQBP-1d

The sequence of this isoform differs from the canonical sequence as follows:
     98-192: Missing.

Show »
Length:170
Mass (Da):18,827
Checksum:iD01C0EAB17B61307
GO
Isoform 5 (identifier: O60828-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     68-167: Missing.

Show »
Length:165
Mass (Da):18,706
Checksum:iA32760CAAEFE5751
GO
Isoform 6 (identifier: O60828-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     149-149: V → Q
     150-265: Missing.

Show »
Length:149
Mass (Da):17,183
Checksum:i88C7259FF95C0501
GO
Isoform 7 (identifier: O60828-7) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     99-128: AEEKLDRSHDKSDRGHDKSDRSHEKLDRGH → LCPQMLKKSWTGAMTSRTGAMTSRTAAMRN
     129-265: Missing.

Show »
Length:128
Mass (Da):14,383
Checksum:i1000C586B57B3758
GO
Isoform 8 (identifier: O60828-8) [UniParc]FASTAAdd to basket
Also known as: PQBP-1a

The sequence of this isoform differs from the canonical sequence as follows:
     55-73: VFDPSCGLPYYWNADTDLV → RAPLLLECRHRPCILALPT
     74-265: Missing.

Show »
Length:73
Mass (Da):8,404
Checksum:iEF932C61145DC023
GO
Isoform 9 (identifier: O60828-9) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     61-67: GLPYYWN → PGWSAMV
     68-265: Missing.

Show »
Length:67
Mass (Da):7,627
Checksum:iF7FA61EC5E06DE6D
GO
Isoform 10 (identifier: O60828-10) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     60-60: C → W
     61-265: Missing.

Show »
Length:60
Mass (Da):6,981
Checksum:i1025785C46650A62
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
H7C053H7C053_HUMAN
Polyglutamine-binding protein 1
PQBP1
150Annotation 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>

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 conflicti8Q → L in CAJ00539 (Ref. 4) Curated1
Sequence conflicti57D → N in CAJ00548 (Ref. 4) Curated1
Sequence conflicti107 – 113Missing in CAJ00538 (Ref. 4) Curated7
Sequence conflicti107 – 113Missing in CAJ00539 (Ref. 4) Curated7
Sequence conflicti107 – 113Missing in CAJ00540 (Ref. 4) Curated7
Sequence conflicti107 – 113Missing in CAJ00541 (Ref. 4) Curated7
Sequence conflicti107H → Q in CAJ00549 (Ref. 4) Curated1
Sequence conflicti147D → G in CAJ00549 (Ref. 4) Curated1
Sequence conflicti198D → G in CAJ00549 (Ref. 4) Curated1
Sequence conflicti236A → V in CAJ00548 (Ref. 4) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07106365Y → C in RENS1; impairs interaction with WBP11, CGAS, SF3B1 and ATN1. 4 PublicationsCorresponds to variant dbSNP:rs121917899EnsemblClinVar.1
Natural variantiVAR_036357224R → W in a colorectal cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_078695244P → L Probable disease-associated mutation found in a patient with autism. 1 PublicationCorresponds to variant dbSNP:rs878853145EnsemblClinVar.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. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_01589655 – 73VFDPS…DTDLV → RAPLLLECRHRPCILALPT in isoform 8. 1 PublicationAdd BLAST19
Alternative sequenceiVSP_01589760C → W in isoform 10. 1 Publication1
Alternative sequenceiVSP_01589861 – 265Missing in isoform 10. 1 PublicationAdd BLAST205
Alternative sequenceiVSP_01589961 – 67GLPYYWN → PGWSAMV in isoform 9. 1 Publication7
Alternative sequenceiVSP_01590168 – 265Missing in isoform 9. 1 PublicationAdd BLAST198
Alternative sequenceiVSP_01590068 – 167Missing in isoform 5. 1 PublicationAdd BLAST100
Alternative sequenceiVSP_01590274 – 265Missing in isoform 8. 1 PublicationAdd BLAST192
Alternative sequenceiVSP_01590398 – 192Missing in isoform 4. 2 PublicationsAdd BLAST95
Alternative sequenceiVSP_01590499 – 128AEEKL…LDRGH → LCPQMLKKSWTGAMTSRTGA MTSRTAAMRN in isoform 7. 1 PublicationAdd BLAST30
Alternative sequenceiVSP_015905129 – 265Missing in isoform 7. 1 PublicationAdd BLAST137
Alternative sequenceiVSP_015906149V → Q in isoform 6. 1 Publication1
Alternative sequenceiVSP_015907150 – 265Missing in isoform 6. 1 PublicationAdd BLAST116
Alternative sequenceiVSP_015908193 – 224AVSRK…GLPKR → GKLGRMGLGETNKVQGALRE EAFPQKDAWTWG in isoform 3. 2 PublicationsAdd BLAST32
Alternative sequenceiVSP_015909193Missing in isoform 2. 1 Publication1
Alternative sequenceiVSP_015910225 – 265Missing in isoform 3. 2 PublicationsAdd BLAST41

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
AJ242829 mRNA Translation: CAB44309.1
AB016533 mRNA Translation: BAA76400.1
AB041832 Genomic DNA Translation: BAB16702.1
AB041832 Genomic DNA Translation: BAB16703.1
AB041832 Genomic DNA Translation: BAB16704.1
AB041832 Genomic DNA Translation: BAB16705.1
AB041833 mRNA Translation: BAB16706.1
AB041834 mRNA Translation: BAB16707.1
AB041835 mRNA Translation: BAB16708.1
AB041836 mRNA Translation: BAB16709.1
AJ973593 mRNA Translation: CAJ00537.1
AJ973594 mRNA Translation: CAJ00538.1
AJ973595 mRNA Translation: CAJ00539.1
AJ973596 mRNA Translation: CAJ00540.1
AJ973597 mRNA Translation: CAJ00541.1
AJ973598 mRNA Translation: CAJ00542.1
AJ973599 mRNA Translation: CAJ00543.1
AJ973600 mRNA Translation: CAJ00544.1
AJ973601 mRNA Translation: CAJ00545.1
AJ973602 mRNA Translation: CAJ00546.1
AJ973603 mRNA Translation: CAJ00547.1
AJ973605 mRNA Translation: CAJ00548.1
AJ973606 mRNA Translation: CAJ00549.1
AJ973607 mRNA Translation: CAJ00550.1
AJ005893 mRNA Translation: CAA06750.1
AC233300 Genomic DNA No translation available.
BC012358 mRNA Translation: AAH12358.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS14309.1 [O60828-1]
CCDS55412.1 [O60828-4]

NCBI Reference Sequences

More...
RefSeqi
NP_001027553.1, NM_001032381.1 [O60828-1]
NP_001027554.1, NM_001032382.1 [O60828-1]
NP_001027555.1, NM_001032383.1 [O60828-1]
NP_001027556.1, NM_001032384.1 [O60828-1]
NP_001161461.1, NM_001167989.1 [O60828-2]
NP_001161462.1, NM_001167990.1
NP_001161464.1, NM_001167992.1 [O60828-5]
NP_005701.1, NM_005710.2 [O60828-1]
NP_652766.1, NM_144495.2 [O60828-4]
XP_005272628.1, XM_005272571.3 [O60828-2]
XP_005272629.1, XM_005272572.4 [O60828-4]
XP_011542186.1, XM_011543884.2 [O60828-1]
XP_016884696.1, XM_017029207.1 [O60828-2]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.534384

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000218224; ENSP00000218224; ENSG00000102103 [O60828-1]
ENST00000247140; ENSP00000247140; ENSG00000102103 [O60828-4]
ENST00000376563; ENSP00000365747; ENSG00000102103 [O60828-1]
ENST00000376566; ENSP00000365750; ENSG00000102103 [O60828-4]
ENST00000396763; ENSP00000379985; ENSG00000102103 [O60828-1]
ENST00000447146; ENSP00000391759; ENSG00000102103 [O60828-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
10084

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:10084

UCSC genome browser

More...
UCSCi
uc004dle.4 human [O60828-1]

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
AJ242829 mRNA Translation: CAB44309.1
AB016533 mRNA Translation: BAA76400.1
AB041832 Genomic DNA Translation: BAB16702.1
AB041832 Genomic DNA Translation: BAB16703.1
AB041832 Genomic DNA Translation: BAB16704.1
AB041832 Genomic DNA Translation: BAB16705.1
AB041833 mRNA Translation: BAB16706.1
AB041834 mRNA Translation: BAB16707.1
AB041835 mRNA Translation: BAB16708.1
AB041836 mRNA Translation: BAB16709.1
AJ973593 mRNA Translation: CAJ00537.1
AJ973594 mRNA Translation: CAJ00538.1
AJ973595 mRNA Translation: CAJ00539.1
AJ973596 mRNA Translation: CAJ00540.1
AJ973597 mRNA Translation: CAJ00541.1
AJ973598 mRNA Translation: CAJ00542.1
AJ973599 mRNA Translation: CAJ00543.1
AJ973600 mRNA Translation: CAJ00544.1
AJ973601 mRNA Translation: CAJ00545.1
AJ973602 mRNA Translation: CAJ00546.1
AJ973603 mRNA Translation: CAJ00547.1
AJ973605 mRNA Translation: CAJ00548.1
AJ973606 mRNA Translation: CAJ00549.1
AJ973607 mRNA Translation: CAJ00550.1
AJ005893 mRNA Translation: CAA06750.1
AC233300 Genomic DNA No translation available.
BC012358 mRNA Translation: AAH12358.1
CCDSiCCDS14309.1 [O60828-1]
CCDS55412.1 [O60828-4]
RefSeqiNP_001027553.1, NM_001032381.1 [O60828-1]
NP_001027554.1, NM_001032382.1 [O60828-1]
NP_001027555.1, NM_001032383.1 [O60828-1]
NP_001027556.1, NM_001032384.1 [O60828-1]
NP_001161461.1, NM_001167989.1 [O60828-2]
NP_001161462.1, NM_001167990.1
NP_001161464.1, NM_001167992.1 [O60828-5]
NP_005701.1, NM_005710.2 [O60828-1]
NP_652766.1, NM_144495.2 [O60828-4]
XP_005272628.1, XM_005272571.3 [O60828-2]
XP_005272629.1, XM_005272572.4 [O60828-4]
XP_011542186.1, XM_011543884.2 [O60828-1]
XP_016884696.1, XM_017029207.1 [O60828-2]
UniGeneiHs.534384

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4BWQX-ray2.10B/D/F/H223-265[»]
4BWSX-ray2.50B/E229-265[»]
4CDOX-ray2.50A/C223-265[»]
ProteinModelPortaliO60828
SMRiO60828
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115393, 52 interactors
IntActiO60828, 25 interactors
MINTiO60828
STRINGi9606.ENSP00000218224

PTM databases

iPTMnetiO60828
PhosphoSitePlusiO60828

Polymorphism and mutation databases

BioMutaiPQBP1

Proteomic databases

EPDiO60828
jPOSTiO60828
MaxQBiO60828
PaxDbiO60828
PeptideAtlasiO60828
PRIDEiO60828
ProteomicsDBi49611
49612 [O60828-10]
49613 [O60828-2]
49614 [O60828-3]
49615 [O60828-4]
49616 [O60828-5]
49617 [O60828-6]
49618 [O60828-7]
49619 [O60828-8]
49620 [O60828-9]
TopDownProteomicsiO60828-1 [O60828-1]
O60828-2 [O60828-2]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
10084
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000218224; ENSP00000218224; ENSG00000102103 [O60828-1]
ENST00000247140; ENSP00000247140; ENSG00000102103 [O60828-4]
ENST00000376563; ENSP00000365747; ENSG00000102103 [O60828-1]
ENST00000376566; ENSP00000365750; ENSG00000102103 [O60828-4]
ENST00000396763; ENSP00000379985; ENSG00000102103 [O60828-1]
ENST00000447146; ENSP00000391759; ENSG00000102103 [O60828-1]
GeneIDi10084
KEGGihsa:10084
UCSCiuc004dle.4 human [O60828-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
10084
DisGeNETi10084
EuPathDBiHostDB:ENSG00000102103.15

GeneCards: human genes, protein and diseases

More...
GeneCardsi
PQBP1
HGNCiHGNC:9330 PQBP1
HPAiHPA001880
MalaCardsiPQBP1
MIMi300463 gene
309500 phenotype
neXtProtiNX_O60828
OpenTargetsiENSG00000102103
Orphaneti93946 Hamel cerebro-palato-cardiac syndrome
93947 X-linked intellectual disability, Golabi-Ito-Hall type
93945 X-linked intellectual disability, Porteous type
93950 X-linked intellectual disability, Sutherland-Haan type
PharmGKBiPA33693

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3427 Eukaryota
ENOG4111MHA LUCA
GeneTreeiENSGT00940000153827
HOGENOMiHOG000231359
HOVERGENiHBG053064
InParanoidiO60828
KOiK12865
OMAiSHEKSDR
OrthoDBi1547704at2759
PhylomeDBiO60828
TreeFamiTF320689

Enzyme and pathway databases

ReactomeiR-HSA-72163 mRNA Splicing - Major Pathway
SignaLinkiO60828

Miscellaneous databases

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

More...
ChiTaRSi
PQBP1 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
PQBP1

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

More...
GenomeRNAii
10084
PMAP-CutDBiO60828

Protein Ontology

More...
PROi
PR:O60828

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000102103 Expressed in 231 organ(s), highest expression level in ectocervix
ExpressionAtlasiO60828 baseline and differential
GenevisibleiO60828 HS

Family and domain databases

CDDicd00201 WW, 1 hit
InterProiView protein in InterPro
IPR001202 WW_dom
IPR036020 WW_dom_sf
SMARTiView protein in SMART
SM00456 WW, 1 hit
SUPFAMiSSF51045 SSF51045, 1 hit
PROSITEiView protein in PROSITE
PS50020 WW_DOMAIN_2, 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 nameiPQBP1_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: O60828
Secondary accession number(s): C9JQA1
, Q4VY25, Q4VY26, Q4VY27, Q4VY29, Q4VY30, Q4VY34, Q4VY35, Q4VY36, Q4VY37, Q4VY38, Q9GZP2, Q9GZU4, Q9GZZ4
<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 25, 2005
Last sequence update: August 1, 1998
Last modified: January 16, 2019
This is version 169 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, Direct protein sequencing, Reference proteome

Documents

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