Entity Details

Primary name PTF1A_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ7RTS3
EntryNamePTF1A_HUMAN
FullNamePancreas transcription factor 1 subunit alpha
TaxID9606
Evidenceevidence at protein level
Length328
SequenceStatuscomplete
DateCreated2006-05-02
DateModified2021-06-02

Ontological Relatives

GenesPTF1A

GO terms

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GOName
GO:0000785 chromatin
GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific
GO:0003677 DNA binding
GO:0003682 chromatin binding
GO:0005634 nucleus
GO:0005667 transcription regulator complex
GO:0005737 cytoplasm
GO:0006355 regulation of transcription, DNA-templated
GO:0006357 regulation of transcription by RNA polymerase II
GO:0009888 tissue development
GO:0010842 retina layer formation
GO:0021549 cerebellum development
GO:0031016 pancreas development
GO:0031017 exocrine pancreas development
GO:0032502 developmental process
GO:0035881 amacrine cell differentiation
GO:0046983 protein dimerization activity
GO:0048384 retinoic acid receptor signaling pathway
GO:0048663 neuron fate commitment
GO:0061074 regulation of neural retina development
GO:0070888 E-box binding
GO:1990837 sequence-specific double-stranded DNA binding

Subcellular Location

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Subcellular Location
Cytoplasm
Nucleus

Domains

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DomainNameCategoryType
IPR011598 Myc-type, basic helix-loop-helix (bHLH) domainDomainDomain
IPR036638 Helix-loop-helix DNA-binding domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
609069 OMIMPancreatic and cerebellar agenesis (PACA)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. The disease is caused by variants affecting the gene represented in this entry.
615935 OMIMPancreatic agenesis 2 (PAGEN2)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. The disease is caused by variants 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).