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


Clone ID RefSeq Accession Definition Vector Stock Status *Turnaround time Price Order
OHu19480 NM_178161 Homo sapiens pancreas specific transcription factor, 1a (PTF1A), mRNA. pcDNA3.1+-DYK On-demand 7-9 $159.00
OHu19480C NM_178161 Homo sapiens pancreas specific transcription factor, 1a (PTF1A), mRNA. Customized vector On-demand 7-9 $209.00

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Gene Symbol PTF1A
Entrez Gene ID 256297
Full Name pancreas specific transcription factor, 1a
Synonyms PTF1-p48, bHLHa29
General protein information
Preferred Names
pancreas transcription factor 1 subunit alpha
Names
pancreas transcription factor 1 subunit alpha
class II bHLH protein PTF1A
bHLH transcription factor p48
class A basic helix-loop-helix protein 29
pancreas-specific transcription factor 1a
exocrine pancreas-specific transcription factor p48
p48 DNA-binding subunit of transcription factor PTF1
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

10

10p12.2

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].
Disorder

MIM: 607194

Diabetes mellitus, permanent neonatal, with cerebellar agenesis,

mRNA Protein Product Sequence Price Select
NM_178161, 120433597 NP_835455, 30039710 pancreas transcription factor 1 subunit alpha ORF Sequence $400.00
Pathway Interaction Database
hes_heypathwayNotch-mediated HES/HEY network
Reactome
REACT_13698Regulation of beta-cell development
REACT_13778Regulation of gene expression in early pancreatic precursor cells
REACT_111045Developmental Biology
Homo sapiens (human)PTF1ANP_835455.1
Pan troglodytes (chimpanzee)PTF1AXP_001146416.2
Canis lupus familiaris (dog)PTF1AXP_850386.2
Bos taurus (cattle)PTF1AXP_002707767.1
Mus musculus (house mouse)Ptf1aNP_061279.2
Rattus norvegicus (Norway rat)Ptf1aNP_446416.1
Danio rerio (zebrafish)ptf1aNP_997524.1
Xenopus (Silurana) tropicalis (western clawed frog)ptf1aXP_002933181.2
Process
IDNameEvidence
GO:0006351transcription, DNA-templatedIEA
GO:0006355regulation of transcription, DNA-templatedISS
GO:0009790embryo developmentIEA
GO:0009888tissue developmentIDA
GO:0010842retina layer formationISS
GO:0021549cerebellum developmentIMP
GO:0031016pancreas developmentIMP
GO:0031017exocrine pancreas developmentISS
GO:0031018endocrine pancreas developmentTAS
GO:0035881amacrine cell differentiationISS
GO:0045944positive regulation of transcription from RNA polymerase II promoterIEA
GO:0048384retinoic acid receptor signaling pathwayIEA
GO:0048663neuron fate commitmentIEA
GO:0061074regulation of neural retina developmentISS
Component
IDNameEvidence
GO:0005634nucleusISS
GO:0005667transcription factor complexISS
GO:0005737cytoplasmISS
Function
IDNameEvidence
GO:0001077RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcriptionIEA
GO:0003677DNA bindingISS
GO:0043565sequence-specific DNA bindingIEA
GO:0046983protein dimerization activityIEA
GeneCards PTF1A
UniProt Q7RTS3
Vega OTTHUMG00000017815
MIM 607194
Ensembl ENSG00000168267
HGNC 23734
HPRD 09526

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Interactant

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