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UniProtKB - P52945 (PDX1_HUMAN)

Entry version 197 (02 Dec 2020)
Sequence version 1 (01 Oct 1996)
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Protein

Pancreas/duodenum homeobox protein 1

Gene

PDX1

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

Activates insulin, somatostatin, glucokinase, islet amyloid polypeptide and glucose transporter type 2 gene transcription. Particularly involved in glucose-dependent regulation of insulin gene transcription. As part of a PDX1:PBX1b:MEIS2b complex in pancreatic acinar cells is involved in the transcriptional activation of the ELA1 enhancer; the complex binds to the enhancer B element and cooperates with the transcription factor 1 complex (PTF1) bound to the enhancer A element. Binds preferentially the DNA motif 5'-[CT]TAAT[TG]-3'. During development, specifies the early pancreatic epithelium, permitting its proliferation, branching and subsequent differentiation. At adult stage, required for maintaining the hormone-producing phenotype of the beta-cell.

Miscellaneous

According to PubMed:16141209, it may be methylated by SETD7 in vitro. However, the relevance of methylation is unsure in vivo.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section specifies the position and type of each DNA-binding domain present within the protein.<p><a href='/help/dna_bind' target='_top'>More...</a></p>DNA bindingi146 – 205HomeoboxPROSITE-ProRule annotationAdd BLAST60

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionActivator, Developmental protein, DNA-binding
Biological processTranscription, Transcription regulation

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		P52945

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-210745, Regulation of gene expression in beta cells
R-HSA-210747, Regulation of gene expression in early pancreatic precursor cells

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

More...SignaLinki		P52945

SIGNOR Signaling Network Open Resource

More...SIGNORi		P52945

<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%5Fand%5Ftaxonomy%5Fsection">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:
Pancreas/duodenum homeobox protein 1
Short name:
PDX-1
Alternative name(s):
Glucose-sensitive factor
Short name:
GSF
Insulin promoter factor 1
Short name:
IPF-1
Insulin upstream factor 1
Short name:
IUF-1
Islet/duodenum homeobox-1
Short name:
IDX-1
Somatostatin-transactivating factor 1
Short name:
STF-1
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:PDX1
Synonyms:IPF1, STF1
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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 13

Organism-specific databases

Eukaryotic Pathogen and Host Database Resources

More...EuPathDBi		HostDB:ENSG00000139515.5

Human Gene Nomenclature Database

More...HGNCi		HGNC:6107, PDX1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		600733, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P52945

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, 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

Pancreatic agenesis 1 (PAGEN1)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disease characterized by isolated hypoplasia or agenesis of the pancreas, pancreatic beta-cell failure resulting in neonatal insulin-dependent diabetes mellitus, and exocrine pancreatic insufficiency.
Related information in OMIM
Diabetes mellitus, non-insulin-dependent (NIDDM)
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionA multifactorial disorder of glucose homeostasis caused by a lack of sensitivity to the body's own insulin. Affected individuals usually have an obese body habitus and manifestations of a metabolic syndrome characterized by diabetes, insulin resistance, hypertension and hypertriglyceridemia. The disease results in long-term complications that affect the eyes, kidneys, nerves, and blood vessels.
Related information in OMIM
Maturity-onset diabetes of the young 4 (MODY4)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease.
Related information in OMIM

Keywords - Diseasei

Diabetes mellitus, Disease mutation

Organism-specific databases

DisGeNET

More...DisGeNETi		3651

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		PDX1

MalaCards human disease database

More...MalaCardsi		PDX1
MIMi125853, phenotype
260370, phenotype
606392, phenotype

Open Targets

More...OpenTargetsi		ENSG00000139515

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

More...Orphaneti		552, MODY
2805, Partial pancreatic agenesis
99885, Permanent neonatal diabetes mellitus

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA162399173

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		P52945, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		PDX1

Domain mapping of disease mutations (DMDM)

More...DMDMi		1708540

<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 or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000491471 – 283Pancreas/duodenum homeobox protein 1Add BLAST283

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 residuei151Phosphothreonine; by PASKBy similarity1
Modified residuei268Phosphoserine; by HIPK21 Publication1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Phosphorylated by the SAPK2 pathway at high intracellular glucose concentration. Phosphorylated by HIPK2 on Ser-268 upon glucose accumulation. This phosphorylation mediates subnuclear localization shifting. Phosphorylation by PASK may lead to translocation into the cytosol (By similarity).By similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		P52945

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		P52945

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

More...PaxDbi		P52945

PeptideAtlas

More...PeptideAtlasi		P52945

PRoteomics IDEntifications database

More...PRIDEi		P52945

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		56554

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P52945

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

More...PhosphoSitePlusi		P52945

<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

Duodenum and pancreas (Langerhans islet beta cells and small subsets of endocrine non-beta-cells, at low levels in acinar cells).

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000139515, Expressed in duodenum and 27 other tissues

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P52945, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000139515, Group enriched (gallbladder, intestine, pancreas)

<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%5Fsection">'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%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with the basic helix-loop-helix domains of TCF3(E47) and NEUROD1 and with HMG-I(Y).

Interacts with SPOP (By similarity).

Interacts with the methyltransferase SETD7.

Part of a PDX1:PBX1b:MEIS2b complex.

By similarity1 Publication

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		109860, 10 interactors

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

More...ELMi		P52945

Protein interaction database and analysis system

More...IntActi		P52945, 2 interactors

Molecular INTeraction database

More...MINTi		P52945

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000370421

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		P52945, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Biological Magnetic Resonance Data Bank

More...BMRBi		P52945

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

More...SMRi		P52945

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		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

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>Regioni13 – 73Transactivation domainBy similarityAdd BLAST61

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi118 – 123Antp-type hexapeptide6
Motifi197 – 203Nuclear localization signalBy similarity7

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 biasi42 – 51Poly-Pro10
Compositional biasi216 – 219Poly-Gly4
Compositional biasi239 – 244Poly-Pro6

<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 Antp-type hexapeptide mediates heterodimerization with PBX on a regulatory element of the somatostatin promoter.By similarity
The homeodomain, which contains the nuclear localization signal, not only mediates DNA-binding, but also acts as a protein-protein interaction domain for TCF3(E47), NEUROD1 and HMG-I(Y).By similarity

<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 Antp homeobox family. IPF1/XlHbox-8 subfamily.Curated

Keywords - Domaini

Homeobox

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG0489, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000162542

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_087401_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P52945

Identification of Orthologs from Complete Genome Data

More...OMAi		HTWKGQW

Database of Orthologous Groups

More...OrthoDBi		1102286at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		P52945

TreeFam database of animal gene trees

More...TreeFami		TF326223

Family and domain databases

Conserved Domains Database

More...CDDi		cd00086, homeodomain, 1 hit

Database of protein disorder

More...DisProti		DP01597

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR009057, Homeobox-like_sf
IPR017995, Homeobox_antennapedia
IPR017970, Homeobox_CS
IPR001356, Homeobox_dom
IPR020479, Homeobox_metazoa

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00046, Homeodomain, 1 hit

Protein Motif fingerprint database; a protein domain database

More...PRINTSi		PR00025, ANTENNAPEDIA
PR00024, HOMEOBOX

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00389, HOX, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF46689, SSF46689, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS00027, HOMEOBOX_1, 1 hit
PS50071, HOMEOBOX_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%5Flength">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>Sequencei

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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.

P52945-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MNGEEQYYAA TQLYKDPCAF QRGPAPEFSA SPPACLYMGR QPPPPPPHPF 
        60         70         80         90        100
PGALGALEQG SPPDISPYEV PPLADDPAVA HLHHHLPAQL ALPHPPAGPF 
       110        120        130        140        150
PEGAEPGVLE EPNRVQLPFP WMKSTKAHAW KGQWAGGAYA AEPEENKRTR 
       160        170        180        190        200
TAYTRAQLLE LEKEFLFNKY ISRPRRVELA VMLNLTERHI KIWFQNRRMK 
       210        220        230        240        250
WKKEEDKKRG GGTAVGGGGV AEPEQDCAVT SGEELLALPP PPPPGGAVPP 
       260        270        280 
AAPVAAREGR LPPGLSASPQ PSSVAPRRPQ EPR
Length:283
Mass (Da):30,771
Last modified:October 1, 1996 - 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:i5D48EC8D3289F72B
GO

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 conflicti56A → S in AAC05157 (PubMed:9252422).Curated1
Sequence conflicti116Q → H in AAC05157 (PubMed:9252422).Curated1
Sequence conflicti210 – 211GG → SS in AAC05157 (PubMed:9252422).Curated2

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_00930918C → R Rare polymorphism; risk factor for type 2 diabetes. 1 PublicationCorresponds to variant dbSNP:rs137852785EnsemblClinVar.1
Natural variantiVAR_00931059Q → L Polymorphism; risk factor for type 2 diabetes. 1 PublicationCorresponds to variant dbSNP:rs137852784EnsemblClinVar.1
Natural variantiVAR_00931176D → N Polymorphism; risk factor for type 2 diabetes. 2 PublicationsCorresponds to variant dbSNP:rs137852783EnsemblClinVar.1
Natural variantiVAR_009312197R → H Polymorphism; risk factor for type 2 diabetes. 1 PublicationCorresponds to variant dbSNP:rs137852786EnsemblClinVar.1
Natural variantiVAR_009313243P → PP Polymorphism; risk factor for type 2 diabetes. 1 Publication1

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
U35632 mRNA Translation: AAA88820.1
S82178, S82168 Genomic DNA Translation: AAB47101.1
U30329 mRNA Translation: AAA74012.1
X99894 mRNA Translation: CAA68169.1
AF035260, AF035259 Genomic DNA Translation: AAB88463.1
AF049893 mRNA Translation: AAC05157.1
AL353195 Genomic DNA No translation available.
CH471075 Genomic DNA Translation: EAX08420.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS9327.1

Protein sequence database of the Protein Information Resource

More...PIRi		G01926

NCBI Reference Sequences

More...RefSeqi		NP_000200.1, NM_000209.3

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000381033; ENSP00000370421; ENSG00000139515

Database of genes from NCBI RefSeq genomes

More...GeneIDi		3651

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:3651

UCSC genome browser

More...UCSCi		uc001urt.3, human

Keywords - Coding sequence diversityi

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

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross%5Freferences%5Fsection">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U35632 mRNA Translation: AAA88820.1
S82178, S82168 Genomic DNA Translation: AAB47101.1
U30329 mRNA Translation: AAA74012.1
X99894 mRNA Translation: CAA68169.1
AF035260, AF035259 Genomic DNA Translation: AAB88463.1
AF049893 mRNA Translation: AAC05157.1
AL353195 Genomic DNA No translation available.
CH471075 Genomic DNA Translation: EAX08420.1
CCDSiCCDS9327.1
PIRiG01926
RefSeqiNP_000200.1, NM_000209.3

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
6F8FX-ray2.00G223-233[»]
BMRBiP52945
SMRiP52945
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi109860, 10 interactors
ELMiP52945
IntActiP52945, 2 interactors
MINTiP52945
STRINGi9606.ENSP00000370421

PTM databases

iPTMnetiP52945
PhosphoSitePlusiP52945

Polymorphism and mutation databases

BioMutaiPDX1
DMDMi1708540

Proteomic databases

jPOSTiP52945
MassIVEiP52945
PaxDbiP52945
PeptideAtlasiP52945
PRIDEiP52945
ProteomicsDBi56554

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		22687, 849 antibodies

The DNASU plasmid repository

More...DNASUi		3651

Genome annotation databases

EnsembliENST00000381033; ENSP00000370421; ENSG00000139515
GeneIDi3651
KEGGihsa:3651
UCSCiuc001urt.3, human

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		3651
DisGeNETi3651
EuPathDBiHostDB:ENSG00000139515.5

GeneCards: human genes, protein and diseases

More...GeneCardsi		PDX1
GeneReviewsiPDX1
HGNCiHGNC:6107, PDX1
HPAiENSG00000139515, Group enriched (gallbladder, intestine, pancreas)
MalaCardsiPDX1
MIMi125853, phenotype
260370, phenotype
600733, gene
606392, phenotype
neXtProtiNX_P52945
OpenTargetsiENSG00000139515
Orphaneti552, MODY
2805, Partial pancreatic agenesis
99885, Permanent neonatal diabetes mellitus
PharmGKBiPA162399173

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG0489, Eukaryota
GeneTreeiENSGT00940000162542
HOGENOMiCLU_087401_0_0_1
InParanoidiP52945
OMAiHTWKGQW
OrthoDBi1102286at2759
PhylomeDBiP52945
TreeFamiTF326223

Enzyme and pathway databases

PathwayCommonsiP52945
ReactomeiR-HSA-210745, Regulation of gene expression in beta cells
R-HSA-210747, Regulation of gene expression in early pancreatic precursor cells
SignaLinkiP52945
SIGNORiP52945

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		3651, 4 hits in 863 CRISPR screens

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

More...ChiTaRSi		PDX1, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		PDX1

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

More...GenomeRNAii		3651
PharosiP52945, Tbio

Protein Ontology

More...PROi		PR:P52945
RNActiP52945, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000139515, Expressed in duodenum and 27 other tissues
GenevisibleiP52945, HS

Family and domain databases

CDDicd00086, homeodomain, 1 hit
DisProtiDP01597
InterProiView protein in InterPro
IPR009057, Homeobox-like_sf
IPR017995, Homeobox_antennapedia
IPR017970, Homeobox_CS
IPR001356, Homeobox_dom
IPR020479, Homeobox_metazoa
PfamiView protein in Pfam
PF00046, Homeodomain, 1 hit
PRINTSiPR00025, ANTENNAPEDIA
PR00024, HOMEOBOX
SMARTiView protein in SMART
SM00389, HOX, 1 hit
SUPFAMiSSF46689, SSF46689, 1 hit
PROSITEiView protein in PROSITE
PS00027, HOMEOBOX_1, 1 hit
PS50071, HOMEOBOX_2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiPDX1_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: P52945
Secondary accession number(s): O60594, Q5VYW2
<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%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: October 1, 1996
Last modified: December 2, 2020
This is version 197 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, Reference proteome

Documents

  1. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  4. SIMILARITY comments
    Index of protein domains and families
  5. Human chromosome 13
    Human chromosome 13: 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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