Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

Q7RTS3

- PTF1A_HUMAN

UniProt

Q7RTS3 - PTF1A_HUMAN

(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Protein

Pancreas transcription factor 1 subunit alpha

Gene

PTF1A

Organism
Homo sapiens (Human)
Status
Reviewed - 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

GO - Molecular functioni

  1. chromatin binding Source: Ensembl
  2. DNA binding Source: UniProtKB
  3. E-box binding Source: Ensembl
  4. RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription Source: Ensembl
  5. sequence-specific DNA binding Source: Ensembl

GO - Biological processi

  1. amacrine cell differentiation Source: UniProtKB
  2. cerebellum development Source: UniProtKB
  3. embryo development Source: Ensembl
  4. endocrine pancreas development Source: Reactome
  5. exocrine pancreas development Source: UniProtKB
  6. neuron fate commitment Source: Ensembl
  7. pancreas development Source: UniProtKB
  8. regulation of neural retina development Source: UniProtKB
  9. regulation of transcription, DNA-templated Source: UniProtKB
  10. retina layer formation Source: UniProtKB
  11. retinoic acid receptor signaling pathway Source: Ensembl
  12. tissue development Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Differentiation, Neurogenesis, Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Enzyme and pathway databases

ReactomeiREACT_13778. 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
ProteomesiUP000005640: Chromosome 10

Organism-specific databases

HGNCiHGNC:23734. PTF1A.

Subcellular locationi

Nucleus PROSITE-ProRule annotation. 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).By similarity

GO - Cellular componenti

  1. cytoplasm Source: UniProtKB
  2. nucleus Source: UniProtKB
  3. transcription factor complex Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Involvement in diseasei

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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.

Keywords - Diseasei

Diabetes mellitus

Organism-specific databases

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

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 328328Pancreas transcription factor 1 subunit alphaPRO_0000233143Add
BLAST

Proteomic databases

MaxQBiQ7RTS3.
PaxDbiQ7RTS3.
PRIDEiQ7RTS3.

PTM databases

PhosphoSiteiQ7RTS3.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiQ7RTS3.
CleanExiHS_PTF1A.
GenevestigatoriQ7RTS3.

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

Protein-protein interaction databases

STRINGi9606.ENSP00000365687.

Structurei

3D structure databases

ProteinModelPortaliQ7RTS3.
SMRiQ7RTS3. Positions 165-219.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini163 – 21553bHLHPROSITE-ProRule annotationAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi227 – 24822Gly-richAdd
BLAST

Sequence similaritiesi

Contains 1 bHLH (basic helix-loop-helix) domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiNOG288112.
GeneTreeiENSGT00730000110958.
HOGENOMiHOG000231913.
HOVERGENiHBG082224.
InParanoidiQ7RTS3.
KOiK09073.
OMAiHEYCYRD.
OrthoDBiEOG79PJQR.
PhylomeDBiQ7RTS3.
TreeFamiTF315153.

Family and domain databases

Gene3Di4.10.280.10. 1 hit.
InterProiIPR011598. bHLH_dom.
[Graphical view]
PfamiPF00010. HLH. 1 hit.
[Graphical view]
SMARTiSM00353. HLH. 1 hit.
[Graphical view]
SUPFAMiSSF47459. SSF47459. 1 hit.
PROSITEiPS50888. BHLH. 1 hit.
[Graphical view]

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti263 – 2631S → P.
Corresponds to variant rs7918487 [ dbSNP | Ensembl ].
VAR_049548

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL139281 Genomic DNA. Translation: CAI12668.1.
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.3. human.

Polymorphism databases

DMDMi74749931.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL139281 Genomic DNA. Translation: CAI12668.1 .
AF181999 mRNA. Translation: AAG09441.1 .
BK000272 Genomic DNA. Translation: DAA01052.1 .
CCDSi CCDS7143.1.
RefSeqi NP_835455.1. NM_178161.2.
UniGenei Hs.351503.

3D structure databases

ProteinModelPortali Q7RTS3.
SMRi Q7RTS3. Positions 165-219.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

STRINGi 9606.ENSP00000365687.

PTM databases

PhosphoSitei Q7RTS3.

Polymorphism databases

DMDMi 74749931.

Proteomic databases

MaxQBi Q7RTS3.
PaxDbi Q7RTS3.
PRIDEi Q7RTS3.

Protocols and materials databases

DNASUi 256297.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000376504 ; ENSP00000365687 ; ENSG00000168267 .
GeneIDi 256297.
KEGGi hsa:256297.
UCSCi uc001irp.3. human.

Organism-specific databases

CTDi 256297.
GeneCardsi GC10P023521.
HGNCi HGNC:23734. PTF1A.
HPAi CAB022612.
MIMi 607194. gene.
609069. phenotype.
neXtProti NX_Q7RTS3.
Orphaneti 2805. Partial pancreatic agenesis.
65288. Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis.
PharmGKBi PA134864129.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG288112.
GeneTreei ENSGT00730000110958.
HOGENOMi HOG000231913.
HOVERGENi HBG082224.
InParanoidi Q7RTS3.
KOi K09073.
OMAi HEYCYRD.
OrthoDBi EOG79PJQR.
PhylomeDBi Q7RTS3.
TreeFami TF315153.

Enzyme and pathway databases

Reactomei REACT_13778. Regulation of gene expression in early pancreatic precursor cells.

Miscellaneous databases

GeneWikii PTF1A.
GenomeRNAii 256297.
NextBioi 92768.
PROi Q7RTS3.
SOURCEi Search...

Gene expression databases

Bgeei Q7RTS3.
CleanExi HS_PTF1A.
Genevestigatori Q7RTS3.

Family and domain databases

Gene3Di 4.10.280.10. 1 hit.
InterProi IPR011598. bHLH_dom.
[Graphical view ]
Pfami PF00010. HLH. 1 hit.
[Graphical view ]
SMARTi SM00353. HLH. 1 hit.
[Graphical view ]
SUPFAMi SSF47459. SSF47459. 1 hit.
PROSITEi PS50888. BHLH. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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. Cited for: INVOLVEMENT IN PACA, FUNCTION IN PANCREAS AND CEREBELLAR DEVELOPMENT.

Entry informationi

Entry nameiPTF1A_HUMAN
AccessioniPrimary (citable) accession number: Q7RTS3
Secondary accession number(s): Q9HC25
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 2, 2006
Last sequence update: December 15, 2003
Last modified: October 29, 2014
This is version 104 of the entry and version 1 of the sequence. [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

Miscellaneous

An excellent marker of acinar cell differentiation in the pancreas.

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
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3