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PTF1A (pancreas associated transcription factor 1a)

Identity

Alias (NCBI)PACA
PAGEN2
PTF1-p48
bHLHa29
p48
HGNC (Hugo) PTF1A
HGNC Alias symbPTF1-p48
bHLHa29
p48
HGNC Previous namepancreas specific transcription factor, 1a
LocusID (NCBI) 256297
Atlas_Id 55733
Location 10p12.2  [Link to chromosome band 10p12]
Location_base_pair Starts at 23192312 and ends at 23194245 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 



External links

 

Nomenclature
HGNC (Hugo)PTF1A   23734
Cards
Entrez_Gene (NCBI)PTF1A    pancreas associated transcription factor 1a
AliasesPACA; PAGEN2; PTF1-p48; bHLHa29; 
p48
GeneCards (Weizmann)PTF1A
Ensembl hg19 (Hinxton)ENSG00000168267 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000168267 [Gene_View]  ENSG00000168267 [Sequence]  chr10:23192312-23194245 [Contig_View]  PTF1A [Vega]
ICGC DataPortalENSG00000168267
TCGA cBioPortalPTF1A
AceView (NCBI)PTF1A
Genatlas (Paris)PTF1A
SOURCE (Princeton)PTF1A
Genetics Home Reference (NIH)PTF1A
Genomic and cartography
GoldenPath hg38 (UCSC)PTF1A  -     chr10:23192312-23194245 +  10p12.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PTF1A  -     10p12.2   [Description]    (hg19-Feb_2009)
GoldenPathPTF1A - 10p12.2 [CytoView hg19]  PTF1A - 10p12.2 [CytoView hg38]
ImmunoBaseENSG00000168267
Genome Data Viewer NCBIPTF1A [Mapview hg19]  
OMIM607194   609069   615935   
Gene and transcription
Genbank (Entrez)AF181999 BM055347 CK904916
RefSeq transcript (Entrez)NM_178161
Consensus coding sequences : CCDS (NCBI)PTF1A
Gene ExpressionPTF1A [ NCBI-GEO ]   PTF1A [ EBI - ARRAY_EXPRESS ]   PTF1A [ SEEK ]   PTF1A [ MEM ]
Gene Expression Viewer (FireBrowse)PTF1A [ Firebrowse - Broad ]
GenevisibleExpression of PTF1A in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)256297
GTEX Portal (Tissue expression)PTF1A
Human Protein AtlasENSG00000168267-PTF1A [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ7RTS3   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ7RTS3  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ7RTS3
PhosPhoSitePlusQ7RTS3
Domaine pattern : Prosite (Expaxy)BHLH (PS50888)   
Domains : Interpro (EBI)bHLH_dom    HLH_DNA-bd_sf   
Domain families : Pfam (Sanger)HLH (PF00010)   
Domain families : Pfam (NCBI)pfam00010   
Domain families : Smart (EMBL)HLH (SM00353)  
Conserved Domain (NCBI)PTF1A
SuperfamilyQ7RTS3
AlphaFold pdb e-kbQ7RTS3   
Human Protein Atlas [tissue]ENSG00000168267-PTF1A [tissue]
HPRD09526
Protein Interaction databases
DIP (DOE-UCLA)Q7RTS3
IntAct (EBI)Q7RTS3
BioGRIDPTF1A
STRING (EMBL)PTF1A
ZODIACPTF1A
Ontologies - Pathways
QuickGOQ7RTS3
Ontology : AmiGOchromatin  RNA polymerase II transcription regulatory region sequence-specific DNA binding  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription activator activity, RNA polymerase II-specific  DNA binding  chromatin binding  nucleus  transcription regulator complex  cytoplasm  regulation of transcription, DNA-templated  regulation of transcription by RNA polymerase II  tissue development  retina layer formation  cerebellum development  pancreas development  exocrine pancreas development  developmental process  amacrine cell differentiation  positive regulation of transcription by RNA polymerase II  protein dimerization activity  retinoic acid receptor signaling pathway  neuron fate commitment  regulation of neural retina development  E-box binding  sequence-specific double-stranded DNA binding  
Ontology : EGO-EBIchromatin  RNA polymerase II transcription regulatory region sequence-specific DNA binding  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription activator activity, RNA polymerase II-specific  DNA binding  chromatin binding  nucleus  transcription regulator complex  cytoplasm  regulation of transcription, DNA-templated  regulation of transcription by RNA polymerase II  tissue development  retina layer formation  cerebellum development  pancreas development  exocrine pancreas development  developmental process  amacrine cell differentiation  positive regulation of transcription by RNA polymerase II  protein dimerization activity  retinoic acid receptor signaling pathway  neuron fate commitment  regulation of neural retina development  E-box binding  sequence-specific double-stranded DNA binding  
NDEx NetworkPTF1A
Atlas of Cancer Signalling NetworkPTF1A
Wikipedia pathwaysPTF1A
Orthology - Evolution
OrthoDB256297
GeneTree (enSembl)ENSG00000168267
Phylogenetic Trees/Animal Genes : TreeFamPTF1A
Homologs : HomoloGenePTF1A
Homology/Alignments : Family Browser (UCSC)PTF1A
Gene fusions - Rearrangements
Fusion : QuiverPTF1A
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPTF1A [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PTF1A
dbVarPTF1A
ClinVarPTF1A
MonarchPTF1A
1000_GenomesPTF1A 
Exome Variant ServerPTF1A
GNOMAD BrowserENSG00000168267
Varsome BrowserPTF1A
ACMGPTF1A variants
VarityQ7RTS3
Genomic Variants (DGV)PTF1A [DGVbeta]
DECIPHERPTF1A [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPTF1A 
Mutations
ICGC Data PortalPTF1A 
TCGA Data PortalPTF1A 
Broad Tumor PortalPTF1A
OASIS PortalPTF1A [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPTF1A  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DPTF1A
Mutations and Diseases : HGMDPTF1A
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaPTF1A
DgiDB (Drug Gene Interaction Database)PTF1A
DoCM (Curated mutations)PTF1A
CIViC (Clinical Interpretations of Variants in Cancer)PTF1A
Cancer3DPTF1A
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607194    609069    615935   
Orphanet2548    10870   
DisGeNETPTF1A
MedgenPTF1A
Genetic Testing Registry PTF1A
NextProtQ7RTS3 [Medical]
GENETestsPTF1A
Target ValidationPTF1A
Huge Navigator PTF1A [HugePedia]
ClinGenPTF1A
Clinical trials, drugs, therapy
MyCancerGenomePTF1A
Protein Interactions : CTDPTF1A
Pharm GKB GenePA134864129
PharosQ7RTS3
Clinical trialPTF1A
Miscellaneous
canSAR (ICR)PTF1A
HarmonizomePTF1A
DataMed IndexPTF1A
Probes
Litterature
PubMed30 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXPTF1A
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:27:24 CEST 2021

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