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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Disease related genes Human disease related genes Transcription factors
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
10
Cytoband
p12.2
Chromosome location (bp)
23192312 - 23194245
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
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....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Developmental protein, DNA-binding
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
This gene encodes a protein that is a component of the pancreas transcription factor 1 complex (PTF1) and is known to have a role in mammalian pancreatic development. The protein plays a role in determining whether cells allocated to the pancreatic buds continue towards pancreatic organogenesis or revert back to duodenal fates. The protein is thought to be involved in the maintenance of exocrine pancreas-specific gene expression including elastase 1 and amylase. Mutations in this gene cause cerebellar agenesis and loss of expression is seen in ductal type pancreas cancers. [provided by RefSeq, Jul 2008]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Basic domains Disease related genes Human disease related genes Digestive system diseases Pancreas diseases Endocrine and metabolic diseases Diabetes Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014)
Show all
GO:0000785[chromatin] GO:0000977[RNA polymerase II transcription regulatory region sequence-specific DNA binding] GO:0000978[RNA polymerase II cis-regulatory region sequence-specific DNA binding] GO:0000981[DNA-binding transcription factor activity, RNA polymerase II-specific] GO:0001228[DNA-binding transcription activator activity, RNA polymerase II-specific] GO:0003677[DNA binding] GO:0003682[chromatin binding] GO:0005634[nucleus] GO:0005667[transcription regulator complex] GO:0005737[cytoplasm] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0006366[transcription by RNA polymerase II] GO:0007399[nervous system development] GO:0009888[tissue development] GO:0010842[retina layer formation] GO:0021549[cerebellum development] GO:0030154[cell differentiation] GO:0030182[neuron differentiation] GO:0030902[hindbrain development] GO:0031016[pancreas development] GO:0031017[exocrine pancreas development] GO:0032502[developmental process] GO:0035881[amacrine cell differentiation] GO:0043565[sequence-specific DNA binding] GO:0045165[cell fate commitment] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046983[protein dimerization activity] GO:0048384[retinoic acid receptor signaling pathway] GO:0048663[neuron fate commitment] GO:0048699[generation of neurons] GO:0060042[retina morphogenesis in camera-type eye] GO:0061074[regulation of neural retina development] GO:0070888[E-box binding] GO:1990837[sequence-specific double-stranded DNA binding]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Digestive system diseases Pancreas diseases Endocrine and metabolic diseases Diabetes
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Digestive system diseases Pancreas diseases Endocrine and metabolic diseases Diabetes
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Digestive system diseases Pancreas diseases Endocrine and metabolic diseases Diabetes
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Digestive system diseases Pancreas diseases Endocrine and metabolic diseases Diabetes
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Digestive system diseases Pancreas diseases Endocrine and metabolic diseases Diabetes
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