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Aliases for PTF1A Gene

Aliases for PTF1A Gene

  • Pancreas Specific Transcription Factor, 1a 2 3 5
  • 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
  • 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 Developmental Biology and Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers. GO annotations related to this gene include sequence-specific DNA binding and protein dimerization activity. 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

Genomic Location for PTF1A Gene

Chromosome:
10
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

Genes around PTF1A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PTF1A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for PTF1A Gene

Domains & Families for PTF1A Gene

Gene Families for PTF1A Gene

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 :
  • Contains 1 bHLH (basic helix-loop-helix) domain.
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 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding IEA --
GO:0003682 chromatin binding IEA --
GO:0043565 sequence-specific DNA binding IEA --
GO:0046983 protein dimerization activity IEA --
genes like me logo Genes that share ontologies with PTF1A: view
genes like me logo Genes that share phenotypes with PTF1A: view

Human Phenotype Ontology for PTF1A Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PTF1A Gene

MGI Knock Outs for PTF1A:

Animal Model Products

CRISPR Products

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

No data available for Enzyme Numbers (IUBMB) , miRNA and Transcription Factor Targets 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 5

No data available for Gene Ontology (GO) - Cellular Components for PTF1A Gene

Pathways & Interactions for PTF1A Gene

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

Gene Ontology (GO) - Biological Process for PTF1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006366 transcription from RNA polymerase II promoter IEA --
GO:0010842 retina layer formation IEA,ISS --
GO:0021549 cerebellum development IEA,IMP 15543146
GO:0030154 cell differentiation IEA --
GO:0031017 exocrine pancreas development IEA,ISS --
genes like me logo Genes that share ontologies with PTF1A: view

No data available for SIGNOR curated interactions for PTF1A Gene

Drugs & Compounds for PTF1A Gene

No Compound Related Data Available

Transcripts for PTF1A Gene

mRNA/cDNA for PTF1A Gene

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

Unigene Clusters for PTF1A Gene

Pancreas specific transcription factor, 1a:
Representative Sequences:

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 (x48.2).

Protein differential expression in normal tissues from HIPED for PTF1A Gene

This gene is overexpressed in Synovial fluid (68.3).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with PTF1A: view

Protein tissue co-expression partners for PTF1A Gene

Primer Products

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 36
  • 83 (a)
OneToOne
PTF1A 35
  • 86.73 (n)
  • 84.83 (a)
mouse
(Mus musculus)
Mammalia Ptf1a 36
  • 87 (a)
OneToOne
Ptf1a 16
Ptf1a 35
  • 83.28 (n)
  • 87.93 (a)
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 36
  • 68 (a)
OneToOne
ptf1a 35
  • 65.4 (n)
  • 71.59 (a)
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

(4) 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
rs7918487 - 23,193,706(+) CAGGG(A/C/T)CCCCC reference, missense
rs10828415 -- 23,193,921(+) GACTC(A/G)GCTGA utr-variant-3-prime
rs12267589 -- 23,194,654(+) TAAGC(A/G)AATGG downstream-variant-500B
rs35414028 -- 23,191,035(+) ACTCC(-/C)TTTCA upstream-variant-2KB
rs35423472 -- 23,191,089(+) CTCCC(-/C)GGGGT upstream-variant-2KB

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

Variation tolerance for PTF1A Gene

Gene Damage Index Score: 2.13; 38.69% of all genes are more intolerant (likely to be disease-causing)

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

MalaCards: The human disease database

(17) MalaCards diseases for PTF1A Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
pancreatic and cerebellar agenesis
  • diabetes mellitus, permanent neonatal, with cerebellar agenesis
pancreatic agenesis 2
  • pagen2
permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
  • pancreatic and cerebellar agenesis
pancreatic agenesis
  • partial pancreatic agenesis
cerebellar agenesis
- elite association - COSMIC cancer census association via MalaCards
Search PTF1A in MalaCards View complete list of genes associated with diseases

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}.

Relevant External Links for PTF1A

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PTF1A
genes like me logo Genes that share disorders with PTF1A: view

No data available for Genatlas for PTF1A Gene

Publications for PTF1A Gene

  1. Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis. (PMID: 24212882) Weedon M.N. … Hattersley A.T. (Nat. Genet. 2014) 3 4 67
  2. 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
  3. 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
  4. Mutations in PTF1A are not a common cause for human VATER/VACTERL association or neural tube defects mirroring Danforth's short tail mouse. (PMID: 25775927) Gurung N. … Ludwig M. (Mol Med Rep 2015) 3
  5. The E3 ubiquitin ligase thyroid hormone receptor-interacting protein 12 targets pancreas transcription factor 1a for proteasomal degradation. (PMID: 25355311) Hanoun N. … Dufresne M. (J. Biol. Chem. 2014) 3

Products for PTF1A Gene

Sources for PTF1A Gene

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