PTF1A

Protein identityUniProt · HPA

UniProt accession

Q7RTS3

Gene

PTF1A

Ensembl

ENSG00000168267

Chromosome

10

Canonical length

328 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors

Subcellular location

Nucleoplasm

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

328 residues, UniProt reviewed canonical sequence.

>Q7RTS3|PTF1A
     1  MDAVLLEHFP GGLDAFPSSY FDEDDFFTDQ SSRDPLEDGD ELLADEQAEV EFLSHQLHEY
    61  CYRDGACLLL QPAPPAAPLA LAPPSSGGLG EPDDGGGGGY CCETGAPPGG FPYSPGSPPS
   121  CLAYPCAGAA VLSPGARLRG LSGAAAAAAR RRRRVRSEAE LQQLRQAANV RERRRMQSIN
   181  DAFEGLRSHI PTLPYEKRLS KVDTLRLAIG YINFLSELVQ ADLPLRGGGA GGCGGPGGGG
   241  RLGGDSPGSQ AQKVIICHRG TRSPSPSDPD YGLPPLAGHS LSWTDEKQLK EQNIIRTAKV
   301  WTPEDPRKLN SKSSFNNIEN EPPFEFVS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PTF1A can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.64

Highest tissue expression

99 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PTF1A.

Disease | AllUniProt

Conditions PTF1A is implicated in, by any mechanism.

• Pancreatic and cerebellar agenesis (PACA) MIM:609069
• Pancreatic agenesis 2 (PAGEN2) MIM:615935

Disease | GeneticClinVar

7 pathogenic / likely-pathogenic of 175 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
• Pancreatic agenesis 2
• Kallikrein, decreased urinary activity of
• Syndromic Monogenic Diabetes
• Permanent neonatal diabetes mellitus

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.01

gnomAD pLI

0.17

gnomAD missense Z

0.51

DepMap mean gene effect

-0.01

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• amacrine cell differentiation
• cerebellum development
• developmental process
• exocrine pancreas development
• neuron fate commitment
• pancreas development
• regulation of DNA-templated transcription
• regulation of neural retina development
• regulation of transcription by RNA polymerase II
• retina layer formation
• retinoic acid receptor signaling pathway
• tissue development
• transcription by RNA polymerase II

Molecular functions

• chromatin binding
• DNA binding
• DNA-binding transcription activator activity, RNA polymerase II-specific
• DNA-binding transcription factor activity, RNA polymerase II-specific
• E-box binding
• protein dimerization activity
• RNA polymerase II transcription regulatory region sequence-specific DNA binding
• sequence-specific double-stranded DNA binding

Cellular components

• chromatin
• cytoplasm
• nucleus
• transcription regulator complex

Protein domainsUniProt · Pfam · InterPro

• Myc-type, basic helix-loop-helix (bHLH) domain
• Helix-loop-helix DNA-binding domain superfamily
• E-box Binding Transcriptional Regulators
• Helix-loop-helix DNA-binding domain

KeywordsUniProt

• Cytoplasm
• Developmental protein
• Diabetes mellitus
• Differentiation
• DNA-binding
• Neurogenesis
• Nucleus
• Transcription
• Transcription regulation

InteractionsUniProt · HPA

Protein binding partners of PTF1A in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• TCF3
• TCF12
• RBPJ