PTF1A
Pancreas Associated Transcription Factor 1a
Gene Information Card
| Symbol | PTF1A |
|---|---|
| Full Name | Pancreas Associated Transcription Factor 1a |
| Gene Type | protein-coding |
| Chromosomal Location | 10p12.3 |
| NCBI Gene ID | 256297 ncbi.nlm.nih.gov/gene/256297 |
| Ensembl ID | ENSG00000168256 |
| UniProt ID | Q7RTS3 |
| OMIM ID | 607194 |
| HGNC ID | 23734 |
| Aliases | PTF1-p48, bHLHa29, p48 |
Description
PTF1A encodes a basic helix-loop-helix (bHLH) transcription factor that is essential for the development of the pancreas and cerebellum. It forms a heterotrimeric complex with RBPJ and one of the E-protein family members to regulate gene expression. Mutations in PTF1A are associated with pancreatic and cerebellar agenesis, as well as neonatal diabetes mellitus.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Pancreatic agenesis | Loss-of-function mutations disrupt pancreatic development, leading to complete absence of pancreatic tissue. | OMIM #260370 |
| Cerebellar agenesis | PTF1A deficiency impairs cerebellar development, resulting in cerebellar agenesis or hypoplasia. | OMIM #607194 |
| Neonatal diabetes mellitus | Pancreatic agenesis due to PTF1A mutations causes permanent neonatal diabetes. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Pancreas | 12.5 | Medium |
| Cerebellum | 8.3 | Low |
| Duodenum | 3.1 | Low |
| Stomach | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| PANC-1 | 15.2 | Pancreatic cancer cell line |
| MIA PaCa-2 | 10.8 | Pancreatic cancer cell line |
| SH-SY5Y | 0.5 | Neuroblastoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.466C>T (p.Arg156*) | Nonsense | Rare | Loss of function; associated with pancreatic agenesis |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of function; associated with pancreatic and cerebellar agenesis |
| c.197G>A (p.Arg66Gln) | Missense | Rare | Loss of function; reduced DNA binding |
Mutation functional classification
Loss of Function (LOF)
Most PTF1A mutations result in loss of function, leading to pancreatic and/or cerebellar agenesis.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • DNA-binding transcription factor activity | • RNA polymerase II cis-regulatory region sequence-specific DNA binding |
| • protein dimerization activity | • regulation of transcription by RNA polymerase II |
| • pancreas development | • cerebellum development |
Pathways
• Notch signaling pathway
• Pancreatic development
Protein Summary
PTF1A is a 48 kDa basic helix-loop-helix transcription factor that forms a complex with RBPJ and E-proteins to activate target genes involved in pancreatic and cerebellar development. It is critical for the specification and maintenance of pancreatic acinar cells and cerebellar granule neurons.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PTF1A Knockout HEK293 Cell Line | EDJ-KQ11824 | Human | 256297 | Details Get a Quote |
| PTF1A Knockout HeLa Cell Line | EDJ-KQ59300 | Human | 256297 | Details Get a Quote |
| PTF1A Knockout A-549 Cell Line | EDJ-KQ67767 | Human | 256297 | Details Get a Quote |
| PTF1A Knockout HCT 116 Cell Line | EDJ-KQ76152 | Human | 256297 | Details Get a Quote |
