• Gene id: 256297

Gene Summary

• Gene Symbol: PTF1A   Gene   UCSC   Ensembl
• Aliases: PACA, PAGEN2, PTF1-p48, bHLHa29, p48
• Gene name: pancreas associated transcription factor 1a
• Alternate names: pancreas transcription factor 1 subunit alpha, bHLH transcription factor p48, class A basic helix-loop-helix protein 29, class II bHLH protein PTF1A, exocrine pancreas-specific transcription factor p48, p48 DNA-binding subunit of transcription factor PTF1, panc,
• Gene location: 10p12.2 (23192311: 23194244)     Exons: 2     NC_000010.11
• Gene summary(Entrez): 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 c
• OMIM: 137217

Protein Summary

• Protein general information: Q7RTS3  
  • Name: Pancreas transcription factor 1 subunit alpha (Class A basic helix loop helix protein 29) (bHLHa29) (Pancreas specific transcription factor 1a) (bHLH transcription factor p48) (p48 DNA binding subunit of transcription factor PTF1) (PTF1 p48)
  • Length: 328  
  • Mass: 34970
  • Tissue specificity: Pancreas-specific (at protein level). Loss of expression is seen in ductal type pancreas cancers. {ECO
• Sequence:

  MDAVLLEHFPGGLDAFPSSYFDEDDFFTDQSSRDPLEDGDELLADEQAEVEFLSHQLHEYCYRDGACLLLQPAPP
  AAPLALAPPSSGGLGEPDDGGGGGYCCETGAPPGGFPYSPGSPPSCLAYPCAGAAVLSPGARLRGLSGAAAAAAR
  RRRRVRSEAELQQLRQAANVRERRRMQSINDAFEGLRSHIPTLPYEKRLSKVDTLRLAIGYINFLSELVQADLPL
  RGGGAGGCGGPGGGGRLGGDSPGSQAQKVIICHRGTRSPSPSDPDYGLPPLAGHSLSWTDEKQLKEQNIIRTAKV
  WTPEDPRKLNSKSSFNNIENEPPFEFVS

• Structural information:
  • Protein Domains: (163..21-)
    (/note="bHLH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00981"-)
  • Interpro: IPR011598  IPR036638  
  • Prosite: PS50888
  • CDD: cd00083
  • STRING: ENSP00000365687
• Other Databases: GeneCards:  PTF1A  Malacards:  PTF1A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0006357	regulation of transcription by RNA polymerase II	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	molecular function
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0035881	amacrine cell differentiation	ISS	biological process
GO:0021549	cerebellum development	IMP	biological process
GO:0010842	retina layer formation	ISS	biological process
GO:0061074	regulation of neural retina development	ISS	biological process
GO:0031016	pancreas development	IMP	biological process
GO:0046983	protein dimerization activity	IEA	molecular function
GO:0030154	cell differentiation	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0007399	nervous system development	IEA	biological process
GO:0070888	E-box binding	IEA	molecular function
GO:0061074	regulation of neural retina development	IEA	biological process
GO:0060042	retina morphogenesis in camera-type eye	IEA	biological process
GO:0048663	neuron fate commitment	IEA	biological process
GO:0048384	retinoic acid receptor signaling pathway	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0031016	pancreas development	IEA	biological process
GO:0030902	hindbrain development	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0005667	transcription regulator complex	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0031017	exocrine pancreas development	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005667	transcription regulator complex	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0048699	generation of neurons	IEA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IEA	biological process
GO:0045165	cell fate commitment	IEA	biological process
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0035881	amacrine cell differentiation	IEA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0021549	cerebellum development	IEA	biological process
GO:0010842	retina layer formation	IEA	biological process
GO:0003682	chromatin binding	IEA	molecular function
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0009888	tissue development	IDA	biological process
GO:0006355	regulation of transcription, DNA-templated	ISS	biological process
GO:0031017	exocrine pancreas development	ISS	biological process
GO:0005737	cytoplasm	ISS	cellular component
GO:0005667	transcription regulator complex	ISS	cellular component
GO:0005634	nucleus	ISS	cellular component
GO:0003677	DNA binding	ISS	molecular function

Diseases

Associated diseases	References
Permanent neonatal diabetes mellitus	KEGG:H00512
Permanent neonatal diabetes mellitus	KEGG:H00512
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray