PTF1A - pancreas associated transcription factor 1a Gene

Homo sapiens

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

Gene ID: 256297 | Gene type: protein coding

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

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

Bioactive Molecules (1)

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

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