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PTF1A pancreas associated transcription factor 1a [ Homo sapiens (human) ]

Gene ID: 256297, updated on 13-Mar-2020

Summary

Official Symbol
PTF1Aprovided by HGNC
Official Full Name
pancreas associated transcription factor 1aprovided by HGNC
Primary source
HGNC:HGNC:23734
See related
Ensembl:ENSG00000168267 MIM:607194
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
p48; PACA; PAGEN2; bHLHa29; PTF1-p48
Summary
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]
Expression
Biased expression in pancreas (RPKM 4.5), testis (RPKM 0.5) and 1 other tissue See more
Orthologs

Genomic context

See PTF1A in Genome Data Viewer
Location:
10p12.2
Exon count:
2
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (23192312..23194245)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (23481460..23483181)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene methionine sulfoxide reductase B2 Neighboring gene tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta pseudogene 3 Neighboring gene chromosome 10 open reading frame 67 Neighboring gene uncharacterized LOC105376453 Neighboring gene MIR1254-2-OTUD1 intergenic CAGE-defined monocyte enhancer

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding ISS
Inferred from Sequence or Structural Similarity
more info
 
DNA-binding transcription activator activity, RNA polymerase II-specific IEA
Inferred from Electronic Annotation
more info
 
DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
 
DNA-binding transcription factor activity, RNA polymerase II-specific ISM
Inferred from Sequence Model
more info
PubMed 
E-box binding IEA
Inferred from Electronic Annotation
more info
 
RNA polymerase II regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
chromatin binding IEA
Inferred from Electronic Annotation
more info
 
protein dimerization activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
amacrine cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
cerebellum development IMP
Inferred from Mutant Phenotype
more info
PubMed 
developmental process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
exocrine pancreas development ISS
Inferred from Sequence or Structural Similarity
more info
 
neuron fate commitment IEA
Inferred from Electronic Annotation
more info
 
pancreas development IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
regulation of neural retina development ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of transcription, DNA-templated ISS
Inferred from Sequence or Structural Similarity
more info
 
retina layer formation ISS
Inferred from Sequence or Structural Similarity
more info
 
retinoic acid receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
tissue development IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
nuclear chromatin ISA
Inferred from Sequence Alignment
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus ISS
Inferred from Sequence or Structural Similarity
more info
 
transcription factor complex ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
pancreas transcription factor 1 subunit alpha
Names
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
pancreas specific transcription factor, 1a

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_009798.1 RefSeqGene

    Range
    4782..6715
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_178161.3NP_835455.1  pancreas transcription factor 1 subunit alpha

    See identical proteins and their annotated locations for NP_835455.1

    Status: REVIEWED

    Source sequence(s)
    AL139281, BM055347, CK904916
    Consensus CDS
    CCDS7143.1
    UniProtKB/Swiss-Prot
    Q7RTS3
    Related
    ENSP00000365687.3, ENST00000376504.4
    Conserved Domains (1) summary
    cd00083
    Location:165220
    HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

    Range
    23192312..23194245
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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