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Q7RTS3

- PTF1A_HUMAN

UniProt

Q7RTS3 - PTF1A_HUMAN

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
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    • History
      Entry version 103 (01 Oct 2014)
      Sequence version 1 (15 Dec 2003)
      Previous versions | rss
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    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. DNA binding Source: UniProtKB
    2. RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription Source: Ensembl
    3. 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

    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

    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.
    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

    MDAVLLEHFP GGLDAFPSSY FDEDDFFTDQ SSRDPLEDGD ELLADEQAEV    50
    EFLSHQLHEY CYRDGACLLL QPAPPAAPLA LAPPSSGGLG EPDDGGGGGY 100
    CCETGAPPGG FPYSPGSPPS CLAYPCAGAA VLSPGARLRG LSGAAAAAAR 150
    RRRRVRSEAE LQQLRQAANV RERRRMQSIN DAFEGLRSHI PTLPYEKRLS 200
    KVDTLRLAIG YINFLSELVQ ADLPLRGGGA GGCGGPGGGG RLGGDSPGSQ 250
    AQKVIICHRG TRSPSPSDPD YGLPPLAGHS LSWTDEKQLK EQNIIRTAKV 300
    WTPEDPRKLN SKSSFNNIEN EPPFEFVS 328
    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:
    EMBL
    GenBank
    DDBJ
    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:
    EMBL
    GenBank
    DDBJ
    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.
    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

    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 1, 2014
    This is version 103 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