PTF1A - pancreas associated transcription factor 1a Gene

Also Known as p48; PACA; PAGEN2; bHLHa29; PTF1-p48

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 256297

About PTF1A

Cytogenetic location: 10p12.2 Genomic coordinates (GRCh38): 10:23,192,312-23,194,245 (from NCBI)

This gene has 6 transcripts (splice variants), 184 orthologues, 13 paralogues and is associated with 6 phenotypes. Biased expression in pancreas (RPKM 4.5), testis (RPKM 0.5) and 1 other tissue.

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]

PTF1A Products (1)

mRNA	Protein	Name
NM_178161.3	NP_835455.1	pancreas transcription factor 1 subunit alpha

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables sequence-specific double-stranded DNA binding	IDA IDA: Inferred from direct assay	28473536	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in cerebellum development	IMP IMP: Inferred from mutant phenotype	15543146	GOA
involved in pancreas development	IMP IMP: Inferred from mutant phenotype	15543146	GOA
involved in tissue development	IDA IDA: Inferred from direct assay	12185368	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PTF1A Protein Structure

HLH

0
100
200
300
328 a.a.

Protein Preferred Names	Protein Names
pancreas transcription factor 1 subunit alpha	bHLH transcription factor p48

Related Diseases

Diseases	Alias
Pancreatic And Cerebellar Agenesis	Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome PACA Diabetes Mellitus, Permanent Neonatal, With Cerebellar Agenesis Diabetes Mellitus And Cerebellar Hypoplasia/Agenesis Permanent Neonatal Diabetes Mellitus With Cerebellar Agenesis Agenesis, Pancreatic And Cerebellar
Pancreatic Agenesis 2	PAGEN2 Pancreatic Hypoplasia, Congenital 2 Congenital Pancreatic Hypoplasia 2 Agenesis, Pancreatic, Type 2
Pancreatic Agenesis	Partial Pancreatic Agenesis Congenital Pancreatic Agenesis Partial Agenesis Of The Pancreas Agenesis, Pancreatic Pancreatic Agenesis, Congenital
Cerebellar Agenesis
Neonatal Diabetes	Neonatal Diabetes Mellitus Diabetes Mellitus Syndrome In Newborn Infant Ndm
Exocrine Pancreatic Insufficiency
Heart Defects, Congenital, And Other Congenital Anomalies	Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome Pancreatic Agenesis And Congenital Heart Defects HDCA PACHD Congenital Pancreatic Hypoplasia With Diabetes Mellitus And Congenital Heart Disease Yorifuji-Okuno Syndrome Yorifuji Okuno Syndrome Pancreatic Hypoplasia, Congenital, With Diabetes Mellitus And Congenital Heart Disease Congenital Heart Defects And Other Congenital Anomalies Hereditary Pancreatic Hypoplasia, Diabetes Mellitus And Congenital Heart Disease Congenital Pancreatic Agenesis With Diabetes Mellitus And Congenital Heart Disease Heart Disease, Congenital, And Other Congenital Anomalies
Pancreatic Mucinous Cystadenoma	Pancreatic Mucinous Cystic Neoplasm Pancreatic Mucinous-Cystic Neoplasm
Permanent Neonatal Diabetes Mellitus	Pndm Permanent Diabetes Mellitus Of Infancy Pdmi Neonatal Diabetes Mellitus, Permanent
Currarino Syndrome	Currarino Triad Partial Sacral Agenesis With Intact First Sacral Vertebra, Presacral Mass And Anorectal Malformation CURRAS
Diabetes Mellitus	Diabetes
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Wolcott-Rallison Syndrome Med-Iddm Syndrome Iddm-Med Syndrome Wolcott Rallison Syndrome WRS Epiphyseal Dysplasia Multiple With Early-Onset Diabetes Mellitus Early-Onset Diabetes Mellitus With Multiple Epiphyseal Dysplasia Multiple Epiphyseal Dysplasia With Early-Onset Diabetes Mellitus
Pancreas, Annular	Annular Pancreas Pancreas Annulare Congenital Annular Pancreas
Renal Cysts And Diabetes Syndrome	RCAD Mody5 Congenital Anomalies Of The Kidney And Urinary Tract With Diabetes Cakut With Diabetes Maturity-Onset Diabetes Of The Young Type 5 Tubulointerstitial Kidney Disease, Autosomal Dominant, 3 Adtkd3 Atypical Familial Juvenile Hyperuricemic Nephropathy Atypical Fjhn Familial Hypoplastic Glomerulocystic Kidney Maturity-Onset Diabetes Of The Young, Type 5 Hyperuricemic Nephropathy, Familial Juvenile, Atypical Fjhn, Atypical Glomerulocystic Kidney Disease, Hypoplastic Type Glomerulocystic Kidney, Familial Hypoplastic Hypoplastic Type Glomerulocystic Kidney Disease Glomerulocystic Kidney Disease Hypoplastic Type Renal-Diabetes Mody5 Syndrome
Transient Neonatal Diabetes Mellitus	Diabetes Mellitus, Transient Neonatal Tndm Chromosome 6-Associated Transient Diabetes Mellitus Dmtn Diabetes Mellitus, 6q24-Related Transient Neonatal Tndm1 Neonatal Diabetes Mellitus, Transient Tndm -[Transient Neonatal Diabetes Mellitus]
Maturity-Onset Diabetes Of The Young	MODY Maturity Onset Diabetes Mellitus In Young Mason-Type Diabetes Mason Type Diabetes Maturity Onset Diabetes Of The Young Mody Syndrome Diabetes Of The Young, Maturity-Onset
Intestinal Atresia
Maturity-Onset Diabetes Of The Young, Type 1	Maturity-Onset Diabetes Of The Young Type 1 MODY1 Mild Juvenile Diabetes Mellitus Mody, Type I Diabetes Mellitus Type 2 Mody Type 1 Mody, Type 1 Maturity-Onset Diabetes Of The Young 1 Mody-1 Diabetes Of The Young, Maturity-Onset, Type 1
Neural Tube Defects	Spina Bifida Neural Tube Defect NTD Neural Tube Defects, Susceptibility To Spinal Dysraphism Spina Bifida, Susceptibility To Rachischisis Cleft Spine Open Spine Hydrocele Spinalis Neural Tube Defect Nos Sb - [Spina Bifida] Spinal Hernia Nos Spinal Fissure Nos
Sacral Defect With Anterior Meningocele	Caudal Regression Syndrome Caudal Regression Sequence Sacral Agenesis Caudal Dysgenesis Syndrome SDAM Caudal Dysplasia Sequence Caudal Dysplasia Sacral Agenesis Syndrome Sacral Regression Syndrome Sacral Defect And Anterior Sacral Meningocele Rudd Klimek Syndrome Sirenomelia
Maturity-Onset Diabetes Of The Young, Type 3	Maturity-Onset Diabetes Of The Young Type 3 MODY3 Mody, Type Iii Mody Type 3 Mody, Type 3 Maturity-Onset Diabetes Of The Young 3 Mody-3 Diabetes Of The Young, Maturity-Onset, Type 3

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS11367	PTF1A Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	PTF1A	VGNC	VGNC:106094
Bos taurus	PTF1A	VGNC	VGNC:33498
Canis familiaris	PTF1A	VGNC	VGNC:52912
Mus musculus	PTF1A	MGD	MGI:1328312
Rattus norvegicus	PTF1A	RGD	RGD:621709
Others	PTF1A	NCBI