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Protein

Pancreas transcription factor 1 subunit alpha

Gene

PTF1A

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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 cells allocated to the pancreatic buds continue towards pancreatic organogenesis or revert back to duodenal fates. May be involved in the maintenance of exocrine pancreas-specific gene expression including ELA1 and amylase. Required for the formation of pancreatic acinar and ductal cells. Plays an important role in cerebellar development. Directly regulated by FOXN4 and RORC during retinal development, FOXN4-PTF1A pathway plays a central role in directing the differentiation of retinal progenitors towards horizontal and amacrine fates.2 Publications

Miscellaneous

An excellent marker of acinar cell differentiation in the pancreas.

GO - Molecular functioni

GO - Biological processi

  • amacrine cell differentiation Source: UniProtKB
  • cerebellum development Source: UniProtKB
  • embryo development Source: Ensembl
  • exocrine pancreas development Source: UniProtKB
  • neuron fate commitment Source: Ensembl
  • pancreas development Source: UniProtKB
  • regulation of neural retina development Source: UniProtKB
  • regulation of transcription, DNA-templated Source: UniProtKB
  • retina layer formation Source: UniProtKB
  • retinoic acid receptor signaling pathway Source: Ensembl
  • tissue development Source: UniProtKB

Keywordsi

Molecular functionDevelopmental protein, DNA-binding
Biological processDifferentiation, Neurogenesis, Transcription, Transcription regulation

Enzyme and pathway databases

ReactomeiR-HSA-210747. Regulation of gene expression in early pancreatic precursor cells.

Names & Taxonomyi

Protein namesi
Recommended name:
Pancreas transcription factor 1 subunit alpha
Alternative name(s):
Class A basic helix-loop-helix protein 29
Short name:
bHLHa29
Pancreas-specific transcription factor 1a
bHLH transcription factor p48
p48 DNA-binding subunit of transcription factor PTF1
Short name:
PTF1-p48
Gene namesi
Name:PTF1A
Synonyms:BHLHA29, PTF1P48
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

EuPathDBiHostDB:ENSG00000168267.5.
HGNCiHGNC:23734. PTF1A.

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Involvement in diseasei

Pancreatic and cerebellar agenesis (PACA)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disease characterized by neonatal diabetes mellitus, cerebellar agenesis or hypoplasia, severe intrauterine growth retardation, the presence of very little subcutaneous fat, and dysmorphic facial features.
See also OMIM:609069
Pancreatic agenesis 2 (PAGEN2)1 Publication
The disease is caused by mutations affecting the gene represented in this entry. In some families with pancreatic agenesis, disease causing mutations affect the sequence and activity of an enhancer region of 400-bp located 25 kb downstream of PTF1A (PubMed:24212882).1 Publication
Disease descriptionA disease characterized by isolated hypoplasia or agenesis of the pancreas, pancreatic beta-cell failure resulting in neonatal insulin-dependent diabetes mellitus, and exocrine pancreatic insufficiency.
See also OMIM:615935

Keywords - Diseasei

Diabetes mellitus

Organism-specific databases

DisGeNETi256297.
MalaCardsiPTF1A.
MIMi609069. phenotype.
615935. phenotype.
OpenTargetsiENSG00000168267.
Orphaneti2805. Partial pancreatic agenesis.
65288. Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis.
PharmGKBiPA134864129.

Polymorphism and mutation databases

BioMutaiPTF1A.
DMDMi74749931.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002331431 – 328Pancreas transcription factor 1 subunit alphaAdd BLAST328

Proteomic databases

MaxQBiQ7RTS3.
PaxDbiQ7RTS3.
PeptideAtlasiQ7RTS3.
PRIDEiQ7RTS3.

PTM databases

iPTMnetiQ7RTS3.
PhosphoSitePlusiQ7RTS3.

Expressioni

Tissue specificityi

Pancreas-specific (at protein level). Loss of expression is seen in ductal type pancreas cancers.1 Publication

Gene expression databases

BgeeiENSG00000168267.
CleanExiHS_PTF1A.

Organism-specific databases

HPAiCAB022612.

Interactioni

Subunit structurei

Component of the pancreas transcription factor 1 complex (PTF1) which is composed of TCF3/p75, TCF12/p64 and PTF1A/p48. TCF3 is responsible for the nuclear import of the p48/p64 complex. Interacts with TCF3 and RBPSUH/RBP-Jkappa (By similarity).By similarity

GO - Molecular functioni

Protein-protein interaction databases

BioGridi129154. 13 interactors.
CORUMiQ7RTS3.
STRINGi9606.ENSP00000365687.

Structurei

3D structure databases

ProteinModelPortaliQ7RTS3.
SMRiQ7RTS3.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini163 – 215bHLHPROSITE-ProRule annotationAdd BLAST53

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi227 – 248Gly-richAdd BLAST22

Phylogenomic databases

eggNOGiKOG4029. Eukaryota.
ENOG411227D. LUCA.
GeneTreeiENSGT00730000110958.
HOGENOMiHOG000231913.
HOVERGENiHBG082224.
InParanoidiQ7RTS3.
KOiK09073.
OMAiHQLHEYC.
OrthoDBiEOG091G0RR2.
PhylomeDBiQ7RTS3.
TreeFamiTF315153.

Family and domain databases

CDDicd00083. HLH. 1 hit.
Gene3Di4.10.280.10. 1 hit.
InterProiView protein in InterPro
IPR011598. bHLH_dom.
IPR036638. HLH_DNA-bd_sf.
PfamiView protein in Pfam
PF00010. HLH. 1 hit.
SMARTiView protein in SMART
SM00353. HLH. 1 hit.
SUPFAMiSSF47459. SSF47459. 1 hit.
PROSITEiView protein in PROSITE
PS50888. BHLH. 1 hit.

Sequencei

Sequence statusi: Complete.

Q7RTS3-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MDAVLLEHFP GGLDAFPSSY FDEDDFFTDQ SSRDPLEDGD ELLADEQAEV
60 70 80 90 100
EFLSHQLHEY CYRDGACLLL QPAPPAAPLA LAPPSSGGLG EPDDGGGGGY
110 120 130 140 150
CCETGAPPGG FPYSPGSPPS CLAYPCAGAA VLSPGARLRG LSGAAAAAAR
160 170 180 190 200
RRRRVRSEAE LQQLRQAANV RERRRMQSIN DAFEGLRSHI PTLPYEKRLS
210 220 230 240 250
KVDTLRLAIG YINFLSELVQ ADLPLRGGGA GGCGGPGGGG RLGGDSPGSQ
260 270 280 290 300
AQKVIICHRG TRSPSPSDPD YGLPPLAGHS LSWTDEKQLK EQNIIRTAKV
310 320
WTPEDPRKLN SKSSFNNIEN EPPFEFVS
Length:328
Mass (Da):34,970
Last modified:December 15, 2003 - v1
Checksum:i5AC84B482C55CEC3
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_049548263S → P. Corresponds to variant dbSNP:rs7918487Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL139281 Genomic DNA. No translation available.
AF181999 mRNA. Translation: AAG09441.1.
BK000272 Genomic DNA. Translation: DAA01052.1.
CCDSiCCDS7143.1.
RefSeqiNP_835455.1. NM_178161.2.
UniGeneiHs.351503.

Genome annotation databases

EnsembliENST00000376504; ENSP00000365687; ENSG00000168267.
GeneIDi256297.
KEGGihsa:256297.
UCSCiuc001irp.4. human.

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiPTF1A_HUMAN
AccessioniPrimary (citable) accession number: Q7RTS3
Secondary accession number(s): Q9HC25
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 2, 2006
Last sequence update: December 15, 2003
Last modified: October 25, 2017
This is version 125 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot