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Aliases for PTF1A Gene

Aliases for PTF1A Gene

  • Pancreas Specific Transcription Factor, 1a 2 3
  • P48 DNA-Binding Subunit Of Transcription Factor PTF1 3 4
  • Class A Basic Helix-Loop-Helix Protein 29 3 4
  • Pancreas-Specific Transcription Factor 1a 3 4
  • BHLH Transcription Factor P48 3 4
  • PTF1-P48 3 4
  • BHLHa29 3 4
  • Exocrine Pancreas-Specific Transcription Factor P48 3
  • Pancreas Transcription Factor 1 Subunit Alpha 3
  • Class II BHLH Protein PTF1A 3
  • PTF1P48 4
  • PAGEN2 3
  • PACA 3

External Ids for PTF1A Gene

Previous GeneCards Identifiers for PTF1A Gene

  • GC10U900012
  • GC10P023485
  • GC10P023521

Summaries for PTF1A Gene

Entrez Gene Summary for PTF1A Gene

  • 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]

GeneCards Summary for PTF1A Gene

PTF1A (Pancreas Specific Transcription Factor, 1a) is a Protein Coding gene. Diseases associated with PTF1A include pancreatic and cerebellar agenesis and pancreatic agenesis 2. Among its related pathways are L1CAM interactions and Regulation of beta-cell development. GO annotations related to this gene include sequence-specific DNA binding and RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription. An important paralog of this gene is FERD3L.

UniProtKB/Swiss-Prot for PTF1A Gene

  • 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.

Gene Wiki entry for PTF1A Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PTF1A Gene

Genomics for PTF1A Gene

Regulatory Elements for PTF1A Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for PTF1A Gene

Start:
23,192,327 bp from pter
End:
23,194,252 bp from pter
Size:
1,926 bases
Orientation:
Plus strand

Genomic View for PTF1A Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PTF1A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PTF1A Gene

Proteins for PTF1A Gene

  • Protein details for PTF1A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7RTS3-PTF1A_HUMAN
    Recommended name:
    Pancreas transcription factor 1 subunit alpha
    Protein Accession:
    Q7RTS3
    Secondary Accessions:
    • Q9HC25

    Protein attributes for PTF1A Gene

    Size:
    328 amino acids
    Molecular mass:
    34970 Da
    Quaternary structure:
    • 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).
    Miscellaneous:
    • An excellent marker of acinar cell differentiation in the pancreas

neXtProt entry for PTF1A Gene

Proteomics data for PTF1A Gene at MOPED

Post-translational modifications for PTF1A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PTF1A Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for PTF1A Gene

Domains for PTF1A Gene

Gene Families for PTF1A Gene

HGNC:
  • bHLH :Basic helix-loop-helix proteins

Protein Domains for PTF1A Gene

Suggested Antigen Peptide Sequences for PTF1A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q7RTS3

UniProtKB/Swiss-Prot:

PTF1A_HUMAN :
  • Q7RTS3
Domain:
  • Contains 1 bHLH (basic helix-loop-helix) domain.
genes like me logo Genes that share domains with PTF1A: view

Function for PTF1A Gene

Molecular function for PTF1A Gene

UniProtKB/Swiss-Prot Function: 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.

Gene Ontology (GO) - Molecular Function for PTF1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001077 RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription IEA --
GO:0003677 DNA binding ISS --
GO:0003682 chromatin binding IEA --
GO:0005515 protein binding --
GO:0043565 sequence-specific DNA binding IEA --
genes like me logo Genes that share ontologies with PTF1A: view
genes like me logo Genes that share phenotypes with PTF1A: view

Animal Models for PTF1A Gene

MGI Knock Outs for PTF1A:

Animal Model Products

CRISPR Products

Targeting motifs for PTF1A Gene
HOMER Transcription Factor Regulatory Elements motif PTF1A
  • Consensus sequence: ACAGCTGTTN Submotif: canonical Cell Type: Panc1 GeoId: GSE47459

No data available for Enzyme Numbers (IUBMB) , miRNA and Transcription Factor Targeting for PTF1A Gene

Localization for PTF1A Gene

Subcellular locations from UniProtKB/Swiss-Prot for PTF1A Gene

Nucleus. Cytoplasm. Note=In chronic pancreatitis associated with pancreas cancer preferentially accumulates in the cytoplasm of acinar/ductular complexes. In the cytoplasm loses its ability to form the PTF1 complex (By similarity). {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PTF1A Gene COMPARTMENTS Subcellular localization image for PTF1A gene
Compartment Confidence
nucleus 4

Gene Ontology (GO) - Cellular Components for PTF1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular --
GO:0005634 nucleus ISS --
GO:0005667 transcription factor complex ISS --
GO:0005737 cytoplasm ISS --
genes like me logo Genes that share ontologies with PTF1A: view

Pathways for PTF1A Gene

genes like me logo Genes that share pathways with PTF1A: view

Pathways by source for PTF1A Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for PTF1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated ISS --
GO:0009790 embryo development IEA --
GO:0009888 tissue development IDA 12185368
GO:0010842 retina layer formation ISS --
genes like me logo Genes that share ontologies with PTF1A: view

Transcripts for PTF1A Gene

mRNA/cDNA for PTF1A Gene

(1) REFSEQ mRNAs :
(5) Selected AceView cDNA sequences:
(1) Additional mRNA sequences :
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for PTF1A Gene

Pancreas specific transcription factor, 1a:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PTF1A

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PTF1A Gene

No ASD Table

Relevant External Links for PTF1A Gene

GeneLoc Exon Structure for
PTF1A
ECgene alternative splicing isoforms for
PTF1A

Expression for PTF1A Gene

mRNA expression in normal human tissues for PTF1A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PTF1A Gene

This gene is overexpressed in Pancreas (48.2).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for PTF1A Gene

SOURCE GeneReport for Unigene cluster for PTF1A Gene Hs.351503

mRNA Expression by UniProt/SwissProt for PTF1A Gene

Q7RTS3-PTF1A_HUMAN
Tissue specificity: Pancreas-specific (at protein level). Loss of expression is seen in ductal type pancreas cancers.
genes like me logo Genes that share expressions with PTF1A: view

In Situ Assay Products

Orthologs for PTF1A Gene

This gene was present in the common ancestor of animals.

Orthologs for PTF1A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PTF1A 35
  • 100 (n)
  • 100 (a)
cow
(Bos Taurus)
Mammalia PTF1A 35
  • 92.02 (n)
  • 93.87 (a)
PTF1A 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PTF1A 35
  • 86.73 (n)
  • 84.83 (a)
PTF1A 36
  • 83 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ptf1a 35
  • 83.28 (n)
  • 87.93 (a)
Ptf1a 16
Ptf1a 36
  • 87 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PTF1A 36
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 30 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Ptf1a 35
  • 83.49 (n)
  • 88.24 (a)
chicken
(Gallus gallus)
Aves PTF1A 36
  • 79 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PTF1A 36
  • 69 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia ptf1a 35
tropical clawed frog
(Silurana tropicalis)
Amphibia ptf1a 35
  • 71.34 (n)
  • 71.97 (a)
zebrafish
(Danio rerio)
Actinopterygii ptf1a 35
  • 65.4 (n)
  • 71.59 (a)
ptf1a 36
  • 68 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Fer1 36
  • 34 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea hlh-13 36
  • 34 (a)
OneToMany
Species with no ortholog for PTF1A:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PTF1A Gene

ENSEMBL:
Gene Tree for PTF1A (if available)
TreeFam:
Gene Tree for PTF1A (if available)

Paralogs for PTF1A Gene

Paralogs for PTF1A Gene

Selected SIMAP similar genes for PTF1A Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with PTF1A: view

Variants for PTF1A Gene

Sequence variations from dbSNP and Humsavar for PTF1A Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type MAF
rs1886762 -- 23,193,340(+) GCTCA(A/G)GGAGA intron-variant
rs1886763 -- 23,193,434(+) CACGG(A/G)AAAAC intron-variant
rs1998769 -- 23,194,701(+) CTTGA(A/G)CTGCC downstream-variant-500B
rs7918487 Likely benign, - 23,193,706(+) CAGGG(C/T)CCCCC missense, reference
rs10592134 -- 23,193,479(+) TTTTT(-/TT)ATTTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PTF1A Gene

Variant ID Type Subtype PubMed ID
nsv825301 CNV Gain 20364138
nsv831810 CNV Gain 17160897
nsv825302 CNV Gain 20364138

Relevant External Links for PTF1A Gene

HapMap Linkage Disequilibrium report
PTF1A
Human Gene Mutation Database (HGMD)
PTF1A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PTF1A Gene

Disorders for PTF1A Gene

(1) OMIM Diseases for PTF1A Gene (607194)

UniProtKB/Swiss-Prot

PTF1A_HUMAN
  • Pancreatic and cerebellar agenesis (PACA) [MIM:609069]: A 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. {ECO:0000269 PubMed:15543146}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Pancreatic agenesis 2 (PAGEN2) [MIM:615935]: A 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. {ECO:0000269 PubMed:24212882}. Note=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). {ECO:0000269 PubMed:24212882}.
genes like me logo Genes that share disorders with PTF1A: view

Publications for PTF1A Gene

  1. p/CAF modulates the activity of the transcription factor p48/Ptf1a involved in pancreatic acinar differentiation. (PMID: 18834332) Rodolosse A. … Real F.X. (Biochem. J. 2009) 3 23
  2. Constitutive expression of the gene for the cell-specific p48 DNA-binding subunit of pancreas transcription factor 1 in cultured cells is under control of binding sites for transcription factors Sp1 and alphaCbf. (PMID: 8703005) KnAPfler M. … Wellauer P.K. (J. Biol. Chem. 1996) 2 3
  3. Role of the basic helix-loop-helix transcription factor p48 in the differentiation phenotype of exocrine pancreas cancer cells. (PMID: 10768861) Adell T. … Real F.X. (Cell Growth Differ. 2000) 3 4
  4. Exhaustive identification of human class II basic helix-loop-helix proteins by virtual library screening. (PMID: 12617822) McLellan A.S. … Kealey T. (Gene Expr. Patterns 2002) 3 4
  5. The DNA sequence and comparative analysis of human chromosome 10. (PMID: 15164054) Deloukas P. … Rogers J. (Nature 2004) 3 4

Products for PTF1A Gene

Sources for PTF1A Gene

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