Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

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
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

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

Show/Hide all(2)

miRTarBase ID	miRNA	Experiments	Reference
MIRT1272582	hsa-miR-501-3p	CLIP-seq
MIRT1272583	hsa-miR-502-3p	CLIP-seq

Show/Hide all(48)

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
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
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
GO:0003677	Function	DNA binding	IEA
GO:0003677	Function	DNA binding	ISS
GO:0003682	Function	Chromatin binding	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005667	Component	Transcription regulator complex	IEA
GO:0005667	Component	Transcription regulator complex	ISS
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	ISS
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006366	Process	Transcription by RNA polymerase II	IEA
GO:0007399	Process	Nervous system development	IEA
GO:0009888	Process	Tissue development	IDA	12185368
GO:0010842	Process	Retina layer formation	IEA
GO:0010842	Process	Retina layer formation	ISS
GO:0021549	Process	Cerebellum development	IEA
GO:0021549	Process	Cerebellum development	IMP	15543146
GO:0021953	Process	Central nervous system neuron differentiation	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0030902	Process	Hindbrain development	IEA
GO:0031016	Process	Pancreas development	IEA
GO:0031016	Process	Pancreas development	IMP	15543146
GO:0031017	Process	Exocrine pancreas development	IEA
GO:0031017	Process	Exocrine pancreas development	ISS
GO:0032502	Process	Developmental process	IBA
GO:0035881	Process	Amacrine cell differentiation	IEA
GO:0035881	Process	Amacrine cell differentiation	ISS
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0045165	Process	Cell fate commitment	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0046983	Function	Protein dimerization activity	IEA
GO:0048384	Process	Retinoic acid receptor signaling pathway	IEA
GO:0048663	Process	Neuron fate commitment	IEA
GO:0048699	Process	Generation of neurons	IEA
GO:0060042	Process	Retina morphogenesis in camera-type eye	IEA
GO:0061074	Process	Regulation of neural retina development	IEA
GO:0061074	Process	Regulation of neural retina development	ISS
GO:0070888	Function	E-box binding	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

MIM	HGNC	e!Ensembl
607194	23734	ENSG00000168267

Protein

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

Show/Hide Causal Diseases (2)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Congenital Pancreatic Agenesis	Pancreatic agenesis 2	rs1588563037	N/A
Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome	permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome	rs104894186, rs886039746, rs1588563037	N/A

Show/Hide Unknown Diseases (3)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Diabetes	Type 2 diabetes	N/A	N/A	GWAS
Diabetes Mellitus	Type 2 diabetes mellitus, permanent neonatal diabetes mellitus	N/A	N/A	ClinVar
Monogenic Diabetes	monogenic diabetes	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (18)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
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
Growth Disorders	Associate	32893856
Hyperglycemia	Associate	29624227
Maturity Onset Diabetes of the Young Type 8 with Exocrine Dysfunction	Associate	25755231
Neoplasms	Associate	34581719
Pancreas agenesis dorsal	Associate	28943513
Pancreatic Agenesis Congenital	Associate	22158542, 24212882, 27284104, 28663161, 32893856
Pancreatic Neoplasms	Associate	29624227, 34581719
Pancreatitis	Associate	27284104

PTF1A (pancreas associated transcription factor 1a)