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


RefSeq Accession Definition Services Price Order
NM_178161 Homo sapiens pancreas specific transcription factor, 1a (PTF1A), mRNA. ORF Sequence $286.23
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Gene Symbol PTF1A
Entrez Gene ID 256297
Full Name pancreas specific transcription factor, 1a
Synonyms PTF1-p48, bHLHa29
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 Full Length $388.31
ORF Sequence $286.23
Pathway Interaction Database
hes_heypathwayNotch-mediated HES/HEY network
Reactome
REACT_111045Developmental Biology
REACT_13698Regulation of beta-cell development
REACT_13778Regulation of gene expression in early pancreatic precursor cells
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
GeneCards PTF1A
UniProt Q7RTS3
MIM 607194
Ensembl ENSG00000168267
HGNC 23734
HPRD 09526

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

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

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