Skip Header

You are using a version of Internet Explorer that may not display all features of this website. Please upgrade to a modern browser.
Contribute Send feedback
Read comments (?) or add your own

Q7RTS3 (PTF1A_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 98. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:PTF1A
Synonyms:BHLHA29, PTF1P48
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length328 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Transcriptional activator. Binds to the E-box consensus sequence 5'-CANNTG-3'. Plays an important role in 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 By similarity. Plays an important role in cerebellar development. Ref.2

Subunit structure

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.

Subcellular location

Nucleus By similarity. Cytoplasm By similarity. Note: In chronic pancreatitis associated with pancreas cancer preferentially accumulates in the cytoplasm of acinar/ductular complexes. In the cytoplasm loses its ability to form the PTF1 complex By similarity. Ref.2

Tissue specificity

Pancreas-specific (at protein level). Loss of expression is seen in ductal type pancreas cancers. Ref.2

Involvement in disease

Pancreatic and cerebellar agenesis (PACA) [MIM:609069]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.4

Miscellaneous

An excellent marker of acinar cell differentiation in the pancreas.

Sequence similarities

Contains 1 bHLH (basic helix-loop-helix) domain.

Ontologies

Keywords
   Biological processDifferentiation
Transcription
Transcription regulation
   Cellular componentCytoplasm
Nucleus
   Coding sequence diversityPolymorphism
   DiseaseDiabetes mellitus
   LigandDNA-binding
   Molecular functionDevelopmental protein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processembryo development

Inferred from electronic annotation. Source: Ensembl

endocrine pancreas development

Traceable author statement. Source: Reactome

exocrine pancreas development

Inferred from sequence or structural similarity. Source: UniProtKB

hindbrain development

Inferred from electronic annotation. Source: Ensembl

neuron fate commitment

Inferred from electronic annotation. Source: Ensembl

regulation of transcription, DNA-templated

Inferred from sequence or structural similarity. Source: UniProtKB

retina morphogenesis in camera-type eye

Inferred from electronic annotation. Source: Ensembl

retinoic acid receptor signaling pathway

Inferred from electronic annotation. Source: Ensembl

tissue development

Inferred from direct assay PubMed 12185368. Source: UniProtKB

   Cellular_componentcytoplasm

Inferred from sequence or structural similarity. Source: UniProtKB

nucleus

Inferred from sequence or structural similarity. Source: UniProtKB

transcription factor complex

Inferred from sequence or structural similarity. Source: UniProtKB

   Molecular_functionDNA binding

Inferred from sequence or structural similarity. Source: UniProtKB

RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription

Inferred from electronic annotation. Source: Ensembl

sequence-specific DNA binding

Inferred from electronic annotation. Source: Ensembl

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 328328Pancreas transcription factor 1 subunit alpha
PRO_0000233143

Regions

Domain163 – 21553bHLH
Compositional bias227 – 24822Gly-rich

Natural variations

Natural variant2631S → P.
Corresponds to variant rs7918487 [ dbSNP | Ensembl ].
VAR_049548

Sequences

Sequence LengthMass (Da)Tools
Q7RTS3 [UniParc].

Last modified December 15, 2003. Version 1.
Checksum: 5AC84B482C55CEC3

FASTA32834,970
        10         20         30         40         50         60 
MDAVLLEHFP GGLDAFPSSY FDEDDFFTDQ SSRDPLEDGD ELLADEQAEV EFLSHQLHEY 

        70         80         90        100        110        120 
CYRDGACLLL QPAPPAAPLA LAPPSSGGLG EPDDGGGGGY CCETGAPPGG FPYSPGSPPS 

       130        140        150        160        170        180 
CLAYPCAGAA VLSPGARLRG LSGAAAAAAR RRRRVRSEAE LQQLRQAANV RERRRMQSIN 

       190        200        210        220        230        240 
DAFEGLRSHI PTLPYEKRLS KVDTLRLAIG YINFLSELVQ ADLPLRGGGA GGCGGPGGGG 

       250        260        270        280        290        300 
RLGGDSPGSQ AQKVIICHRG TRSPSPSDPD YGLPPLAGHS LSWTDEKQLK EQNIIRTAKV 

       310        320 
WTPEDPRKLN SKSSFNNIEN EPPFEFVS 

« Hide

References

« Hide 'large scale' references
[1]"The DNA sequence and comparative analysis of human chromosome 10."
Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J. expand/collapse author list , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.
Nature 429:375-381(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[2]"Role of the basic helix-loop-helix transcription factor p48 in the differentiation phenotype of exocrine pancreas cancer cells."
Adell T., Gomez-Cuadrado A., Skoudy A., Pettengill O.S., Longnecker D.S., Real F.X.
Cell Growth Differ. 11:137-147(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 168-215, FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
[3]"Exhaustive identification of human class II basic helix-loop-helix proteins by virtual library screening."
McLellan A.S., Langlands K., Kealey T.
Gene Expr. Patterns 2:329-335(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION.
[4]"Mutations in PTF1A cause pancreatic and cerebellar agenesis."
Sellick G.S., Barker K.T., Stolte-Dijkstra I., Fleischmann C., Coleman R.J., Garrett C., Gloyn A.L., Edghill E.L., Hattersley A.T., Wellauer P.K., Goodwin G., Houlston R.S.
Nat. Genet. 36:1301-1305(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN PACA.
+Additional computationally mapped references.

Web resources

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AL139281 Genomic DNA. Translation: CAI12668.1.
AF181999 mRNA. Translation: AAG09441.1.
BK000272 Genomic DNA. Translation: DAA01052.1.
RefSeqNP_835455.1. NM_178161.2.
UniGeneHs.351503.

3D structure databases

ProteinModelPortalQ7RTS3.
SMRQ7RTS3. Positions 165-219.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000365687.

PTM databases

PhosphoSiteQ7RTS3.

Polymorphism databases

DMDM74749931.

Proteomic databases

PaxDbQ7RTS3.
PRIDEQ7RTS3.

Protocols and materials databases

DNASU256297.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000376504; ENSP00000365687; ENSG00000168267.
GeneID256297.
KEGGhsa:256297.
UCSCuc001irp.3. human.

Organism-specific databases

CTD256297.
GeneCardsGC10P023521.
HGNCHGNC:23734. PTF1A.
HPACAB022612.
MIM607194. gene.
609069. phenotype.
neXtProtNX_Q7RTS3.
Orphanet65288. Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis.
PharmGKBPA134864129.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG288112.
HOGENOMHOG000231913.
HOVERGENHBG082224.
InParanoidQ7RTS3.
KOK09073.
OMAHEYCYRD.
OrthoDBEOG79PJQR.
PhylomeDBQ7RTS3.
TreeFamTF315153.

Enzyme and pathway databases

ReactomeREACT_111045. Developmental Biology.

Gene expression databases

BgeeQ7RTS3.
CleanExHS_PTF1A.
GenevestigatorQ7RTS3.

Family and domain databases

Gene3D4.10.280.10. 1 hit.
InterProIPR011598. bHLH_dom.
[Graphical view]
PfamPF00010. HLH. 1 hit.
[Graphical view]
SMARTSM00353. HLH. 1 hit.
[Graphical view]
SUPFAMSSF47459. SSF47459. 1 hit.
PROSITEPS50888. BHLH. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiPTF1A.
GenomeRNAi256297.
NextBio92768.
PROQ7RTS3.
SOURCESearch...

Entry information

Entry namePTF1A_HUMAN
AccessionPrimary (citable) accession number: Q7RTS3
Secondary accession number(s): Q9HC25
Entry history
Integrated into UniProtKB/Swiss-Prot: May 2, 2006
Last sequence update: December 15, 2003
Last modified: April 16, 2014
This is version 98 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 10

Human chromosome 10: entries, gene names and cross-references to MIM