PTF1A (pancreas associated transcription factor 1a)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
256297
Gene name Gene Name - the full gene name approved by the HGNC.
Pancreas associated transcription factor 1a
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PTF1A
Synonyms (NCBI Gene) Gene synonyms aliases
PACA, PAGEN2, PTF1-p48, bHLHa29, p48
Disease Acronyms (UniProt) Disease acronyms from UniProt database
PACA, PAGEN2
Chromosome Chromosome number
10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
10p12.2
Summary Summary of gene provided in NCBI Entrez Gene.
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 c
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(5)
SNP ID Visualize variation Clinical significance Consequence
rs104894186 C>T Pathogenic Stop gained, coding sequence variant
rs140097468 C>T Conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant
rs535090775 G>C,T Uncertain-significance, conflicting-interpretations-of-pathogenicity Coding sequence variant, missense variant
rs886039746 G>-,GG Pathogenic Coding sequence variant, frameshift variant
rs1588563037 C>A Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(2)
miRTarBase ID miRNA Experiments Reference
MIRT1272582 hsa-miR-501-3p CLIP-seq
MIRT1272583 hsa-miR-502-3p CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(26)
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin ISA
GO:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding IBA 21873635
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA 21873635
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific ISA
GO:0001228 Function DNA-binding transcription activator activity, RNA polymerase II-specific IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
607194 23734 ENSG00000168267
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Q7RTS3
Protein name Pancreas transcription factor 1 subunit alpha (Class A basic helix-loop-helix protein 29) (bHLHa29) (Pancreas-specific transcription factor 1a) (bHLH transcription factor p48) (p48 DNA-binding subunit of transcription factor PTF1) (PTF1-p48)
Protein function Transcription factor implicated in the cell fate determination in various organs. Binds to the E-box consensus sequence 5'-CANNTG-3'. Plays a role in early and late pancreas development and differentiation. Important for determining whether cell
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00010 HLH 164 → 216 Helix-loop-helix DNA-binding domain Domain
Tissue specificity TISSUE SPECIFICITY: Pancreas-specific (at protein level). Loss of expression is seen in ductal type pancreas cancers. {ECO:0000269|PubMed:10768861}.
Sequence 
MDAVLLEHFPGGLDAFPSSYFDEDDFFTDQSSRDPLEDGDELLADEQAEVEFLSHQLHEY
CYRDGACLLLQPAPPAAPLALAPPSSGGLGEPDDGGGGGYCCETGAPPGGFPYSPGSPPS
CLAYPCAGAAVLSPGARLRGLSGAAAAAARRRRRVRSEAELQQLRQAANVRERRRMQSIN
DAFEGLRSHIPTLPYEKRLSKVDTLRLAIGYINFLSELVQADLPLRGGGAGGCGGPGGGG
RLGGDSPGSQAQKVIICHRGTRSPSPSDPDYGLPPLAGHSLSWTDEKQLKEQNIIRTAKV
WTPEDPRKLNSKSSFNNIENEPPFEFVS
Sequence length 328
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (5)
Causal
Disease term Disease name dbSNP ID References
Anemia Anemia rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966
View all (89 more)
Diabetes mellitus Diabetes Mellitus, Neonatal diabetes mellitus rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237
View all (293 more)
Diabetes mellitus-pancreatic and cerebellar agenesis syndrome Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome rs104894186, rs886039746, rs1588563037
Microcephaly Microcephaly rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019
View all (280 more)
Show/Hide Unknown Diseases (3)
Unknown
Disease term Disease name Evidence References Source
Pancreatic hypoplasia Congenital hypoplasia of pancreas ClinVar
Congenital Pancreatic Agenesis pancreatic agenesis 2 GenCC
Diabetes Diabetes GWAS
Show/Hide Text Mining Associations (18)
Associations from Text Mining
Disease Name Relationship Type References
Anemia Associate 32893856
Cholestasis Associate 32893856
Developmental Delay Epilepsy and Neonatal Diabetes Associate 28943513
Developmental Disabilities Associate 32893856
Diabetes Mellitus Associate 28943513, 29624227, 32893856, 37897565
Diabetes Mellitus Permanent Neonatal Associate 25755231, 31441606
Diabetes Mellitus Permanent Neonatal with Cerebellar Agenesis Associate 27284104, 28663161
Diabetes Mellitus Transient Neonatal 1 Associate 27284104, 28663161, 28943513, 29624227, 37897565
Diabetes Mellitus Type 1 Associate 29624227
Exocrine Pancreatic Insufficiency Associate 29624227, 32893856