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Protein

Pancreas transcription factor 1 subunit alpha

Gene

PTF1A

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

Transcription factor implicated in the cell fate determination in various organs. Binds to the E-box consensus sequence 5'-CANNTG-3'. Plays a role in early and late pancreas development and differentiation. Important for determining whether cells allocated to the pancreatic buds continue towards pancreatic organogenesis or revert back to duodenal fates. May be involved in the maintenance of exocrine pancreas-specific gene expression including ELA1 and amylase. Required for the formation of pancreatic acinar and ductal cells. Plays an important role in cerebellar development. Directly regulated by FOXN4 and RORC during retinal development, FOXN4-PTF1A pathway plays a central role in directing the differentiation of retinal progenitors towards horizontal and amacrine fates.2 Publications

Miscellaneous

An excellent marker of acinar cell differentiation in the pancreas.

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

GO - Biological processi

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

Molecular functionDevelopmental protein, DNA-binding
Biological processDifferentiation, Neurogenesis, Transcription, Transcription regulation

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

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

<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:
Pancreas transcription factor 1 subunit alpha
Alternative name(s):
Class A basic helix-loop-helix protein 29
Short name:
bHLHa29
Pancreas-specific transcription factor 1a
bHLH transcription factor p48
p48 DNA-binding subunit of transcription factor PTF1
Short name:
PTF1-p48
<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:PTF1A
Synonyms:BHLHA29, PTF1P48
<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 10

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000168267.5

Human Gene Nomenclature Database

More...
HGNCi
HGNC:23734 PTF1A

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
607194 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q7RTS3

<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

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 and cerebellar agenesis (PACA)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disease characterized by neonatal diabetes mellitus, cerebellar agenesis or hypoplasia, severe intrauterine growth retardation, the presence of very little subcutaneous fat, and dysmorphic facial features.
See also OMIM:609069
Pancreatic agenesis 2 (PAGEN2)1 Publication
The disease is caused by mutations affecting the gene represented in this entry. In some families with pancreatic agenesis, disease causing mutations affect the sequence and activity of an enhancer region of 400-bp located 25 kb downstream of PTF1A (PubMed:24212882).1 Publication
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.
See also OMIM:615935

Keywords - Diseasei

Diabetes mellitus

Organism-specific databases

DisGeNET

More...
DisGeNETi
256297

MalaCards human disease database

More...
MalaCardsi
PTF1A
MIMi609069 phenotype
615935 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000168267

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

More...
Orphaneti
2805 Partial pancreatic agenesis
65288 Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134864129

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
PTF1A

Domain mapping of disease mutations (DMDM)

More...
DMDMi
74749931

<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_00002331431 – 328Pancreas transcription factor 1 subunit alphaAdd BLAST328

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q7RTS3

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q7RTS3

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

More...
PaxDbi
Q7RTS3

PeptideAtlas

More...
PeptideAtlasi
Q7RTS3

PRoteomics IDEntifications database

More...
PRIDEi
Q7RTS3

ProteomicsDB human proteome resource

More...
ProteomicsDBi
68892

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q7RTS3

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

More...
PhosphoSitePlusi
Q7RTS3

<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

Pancreas-specific (at protein level). Loss of expression is seen in ductal type pancreas cancers.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000168267 Expressed in 24 organ(s), highest expression level in body of pancreas

CleanEx database of gene expression profiles

More...
CleanExi
HS_PTF1A

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q7RTS3 baseline and differential

Organism-specific databases

Human Protein Atlas

More...
HPAi
CAB022612

<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 pancreas transcription factor 1 complex (PTF1) which is composed of TCF3/p75, TCF12/p64 and PTF1A/p48. TCF3 is responsible for the nuclear import of the p48/p64 complex. Interacts with TCF3 and RBPSUH/RBP-Jkappa (By similarity).By similarity

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
129154, 13 interactors

CORUM comprehensive resource of mammalian protein complexes

More...
CORUMi
Q7RTS3

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000365687

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

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
Q7RTS3

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

More...
SMRi
Q7RTS3

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <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>Domaini163 – 215bHLHPROSITE-ProRule annotationAdd BLAST53

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 biasi227 – 248Gly-richAdd BLAST22

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG4029 Eukaryota
ENOG411227D LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000161000

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000231913

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG082224

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q7RTS3

KEGG Orthology (KO)

More...
KOi
K09073

Identification of Orthologs from Complete Genome Data

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OMAi
YCCEAGA

Database of Orthologous Groups

More...
OrthoDBi
1104596at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q7RTS3

TreeFam database of animal gene trees

More...
TreeFami
TF315153

Family and domain databases

Conserved Domains Database

More...
CDDi
cd00083 HLH, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
4.10.280.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR011598 bHLH_dom
IPR036638 HLH_DNA-bd_sf

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00010 HLH, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00353 HLH, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF47459 SSF47459, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50888 BHLH, 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>Sequence (1+)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 has 1 described isoform and 5 potential isoforms that are computationally mapped.Show allAlign All

Q7RTS3-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MDAVLLEHFP GGLDAFPSSY FDEDDFFTDQ SSRDPLEDGD ELLADEQAEV
60 70 80 90 100
EFLSHQLHEY CYRDGACLLL QPAPPAAPLA LAPPSSGGLG EPDDGGGGGY
110 120 130 140 150
CCETGAPPGG FPYSPGSPPS CLAYPCAGAA VLSPGARLRG LSGAAAAAAR
160 170 180 190 200
RRRRVRSEAE LQQLRQAANV RERRRMQSIN DAFEGLRSHI PTLPYEKRLS
210 220 230 240 250
KVDTLRLAIG YINFLSELVQ ADLPLRGGGA GGCGGPGGGG RLGGDSPGSQ
260 270 280 290 300
AQKVIICHRG TRSPSPSDPD YGLPPLAGHS LSWTDEKQLK EQNIIRTAKV
310 320
WTPEDPRKLN SKSSFNNIEN EPPFEFVS
Length:328
Mass (Da):34,970
Last modified:December 15, 2003 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i5AC84B482C55CEC3
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 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A1W2PQC4A0A1W2PQC4_HUMAN
Pancreas transcription factor 1 sub...
PTF1A
52Annotation 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>
A0A1W2PR29A0A1W2PR29_HUMAN
Pancreas transcription factor 1 sub...
PTF1A
31Annotation 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>
A0A1W2PPH2A0A1W2PPH2_HUMAN
Pancreas transcription factor 1 sub...
PTF1A
38Annotation 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>
A0A1W2PRT5A0A1W2PRT5_HUMAN
Pancreas transcription factor 1 sub...
PTF1A
66Annotation 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>
A0A1W2PQF5A0A1W2PQF5_HUMAN
Pancreas transcription factor 1 sub...
PTF1A
28Annotation 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>

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_049548263S → P. Corresponds to variant dbSNP:rs7918487EnsemblClinVar.1

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
AL139281 Genomic DNA No translation available.
AF181999 mRNA Translation: AAG09441.1
BK000272 Genomic DNA Translation: DAA01052.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS7143.1

NCBI Reference Sequences

More...
RefSeqi
NP_835455.1, NM_178161.2

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.351503

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000376504; ENSP00000365687; ENSG00000168267

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
256297

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:256297

UCSC genome browser

More...
UCSCi
uc001irp.4 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

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL139281 Genomic DNA No translation available.
AF181999 mRNA Translation: AAG09441.1
BK000272 Genomic DNA Translation: DAA01052.1
CCDSiCCDS7143.1
RefSeqiNP_835455.1, NM_178161.2
UniGeneiHs.351503

3D structure databases

ProteinModelPortaliQ7RTS3
SMRiQ7RTS3
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi129154, 13 interactors
CORUMiQ7RTS3
STRINGi9606.ENSP00000365687

PTM databases

iPTMnetiQ7RTS3
PhosphoSitePlusiQ7RTS3

Polymorphism and mutation databases

BioMutaiPTF1A
DMDMi74749931

Proteomic databases

jPOSTiQ7RTS3
MaxQBiQ7RTS3
PaxDbiQ7RTS3
PeptideAtlasiQ7RTS3
PRIDEiQ7RTS3
ProteomicsDBi68892

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
256297
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000376504; ENSP00000365687; ENSG00000168267
GeneIDi256297
KEGGihsa:256297
UCSCiuc001irp.4 human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
256297
DisGeNETi256297
EuPathDBiHostDB:ENSG00000168267.5

GeneCards: human genes, protein and diseases

More...
GeneCardsi
PTF1A
HGNCiHGNC:23734 PTF1A
HPAiCAB022612
MalaCardsiPTF1A
MIMi607194 gene
609069 phenotype
615935 phenotype
neXtProtiNX_Q7RTS3
OpenTargetsiENSG00000168267
Orphaneti2805 Partial pancreatic agenesis
65288 Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
PharmGKBiPA134864129

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG4029 Eukaryota
ENOG411227D LUCA
GeneTreeiENSGT00940000161000
HOGENOMiHOG000231913
HOVERGENiHBG082224
InParanoidiQ7RTS3
KOiK09073
OMAiYCCEAGA
OrthoDBi1104596at2759
PhylomeDBiQ7RTS3
TreeFamiTF315153

Enzyme and pathway databases

ReactomeiR-HSA-210747 Regulation of gene expression in early pancreatic precursor cells

Miscellaneous databases

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
PTF1A

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

More...
GenomeRNAii
256297

Protein Ontology

More...
PROi
PR:Q7RTS3

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000168267 Expressed in 24 organ(s), highest expression level in body of pancreas
CleanExiHS_PTF1A
ExpressionAtlasiQ7RTS3 baseline and differential

Family and domain databases

CDDicd00083 HLH, 1 hit
Gene3Di4.10.280.10, 1 hit
InterProiView protein in InterPro
IPR011598 bHLH_dom
IPR036638 HLH_DNA-bd_sf
PfamiView protein in Pfam
PF00010 HLH, 1 hit
SMARTiView protein in SMART
SM00353 HLH, 1 hit
SUPFAMiSSF47459 SSF47459, 1 hit
PROSITEiView protein in PROSITE
PS50888 BHLH, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
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<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 nameiPTF1A_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: Q7RTS3
Secondary accession number(s): Q9HC25
<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: May 2, 2006
Last sequence update: December 15, 2003
Last modified: January 16, 2019
This is version 134 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
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