LOCUS       NM_178161               1545 bp    mRNA    linear   PRI 18-NOV-2024
DEFINITION  Homo sapiens pancreas associated transcription factor 1a (PTF1A),
            mRNA.
ACCESSION   NM_178161
VERSION     NM_178161.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1545)
  AUTHORS   Demirbilek,H., Cayir,A., Flanagan,S.E., Yildirim,R., Kor,Y.,
            Gurbuz,F., Haliloglu,B., Yildiz,M., Baran,R.T., Akbas,E.D.,
            Demiral,M., Unal,E., Arslan,G., Vuralli,D., Buyukyilmaz,G.,
            Al-Khawaga,S., Saeed,A., Al Maadheed,M., Khalifa,A., Onal,H.,
            Yuksel,B., Ozbek,M.N., Bereket,A., Hattersley,A.T., Hussain,K. and
            De Franco,E.
  TITLE     Clinical Characteristics and Long-term Follow-up of Patients with
            Diabetes Due To PTF1A Enhancer Mutations
  JOURNAL   J Clin Endocrinol Metab 105 (12), e4351-e4359 (2020)
   PUBMED   32893856
  REMARK    GeneRIF: Clinical Characteristics and Long-term Follow-up of
            Patients with Diabetes Due To PTF1A Enhancer Mutations.
REFERENCE   2  (bases 1 to 1545)
  AUTHORS   Abali,Z.Y., De Franco,E., Karakilic Ozturan,E., Poyrazoglu,S.,
            Bundak,R., Bas,F., Flanagan,S.E. and Darendeliler,F.
  TITLE     Clinical Characteristics, Molecular Features, and Long-Term
            Follow-Up of 15 Patients with Neonatal Diabetes: A Single-Centre
            Experience
  JOURNAL   Horm Res Paediatr 93 (7-8), 423-432 (2020)
   PUBMED   33498041
  REMARK    GeneRIF: Clinical Characteristics, Molecular Features, and
            Long-Term Follow-Up of 15 Patients with Neonatal Diabetes: A
            Single-Centre Experience.
REFERENCE   3  (bases 1 to 1545)
  AUTHORS   Xiao,D., Liu,X., Zhang,M., Zou,M., Deng,Q., Sun,D., Bian,X.,
            Cai,Y., Guo,Y., Liu,S., Li,S., Shiang,E., Zhong,H., Cheng,L.,
            Xu,H., Jin,K. and Xiang,M.
  TITLE     Direct reprogramming of fibroblasts into neural stem cells by
            single non-neural progenitor transcription factor Ptf1a
  JOURNAL   Nat Commun 9 (1), 2865 (2018)
   PUBMED   30030434
  REMARK    GeneRIF: non-neural progenitor transcription factor Ptf1a alone is
            sufficient to directly reprogram mouse and human fibroblasts into
            self-renewable induced neural stem cells capable of differentiating
            into functional neurons, astrocytes and oligodendrocytes, and
            improving cognitive dysfunction of Alzheimer's disease mouse models
            when transplanted
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1545)
  AUTHORS   Yin,Y., Morgunova,E., Jolma,A., Kaasinen,E., Sahu,B.,
            Khund-Sayeed,S., Das,P.K., Kivioja,T., Dave,K., Zhong,F.,
            Nitta,K.R., Taipale,M., Popov,A., Ginno,P.A., Domcke,S., Yan,J.,
            Schubeler,D., Vinson,C. and Taipale,J.
  TITLE     Impact of cytosine methylation on DNA binding specificities of
            human transcription factors
  JOURNAL   Science 356 (6337) (2017)
   PUBMED   28473536
REFERENCE   5  (bases 1 to 1545)
  AUTHORS   Hoang,C.Q., Hale,M.A., Azevedo-Pouly,A.C., Elsasser,H.P.,
            Deering,T.G., Willet,S.G., Pan,F.C., Magnuson,M.A., Wright,C.V.,
            Swift,G.H. and MacDonald,R.J.
  TITLE     Transcriptional Maintenance of Pancreatic Acinar Identity,
            Differentiation, and Homeostasis by PTF1A
  JOURNAL   Mol Cell Biol 36 (24), 3033-3047 (2016)
   PUBMED   27697859
  REMARK    GeneRIF: Study describes the wide range of gene control by PTF1A
            that maintains the specific characteristics of pancreatic acinar
            cell identity and differentiation. PTF1A controls the pancreatic
            acinar transcription program by direct action at a thousand genes
            and in collaboration with other less cell type-restricted factors
            to ensure acinar cell homeostasis and to suppress other
            cell-type-specific programs.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1545)
  AUTHORS   Knofler,M., Krapp,A., Hagenbuchle,O. and Wellauer,P.K.
  TITLE     Constitutive expression of the gene for the cell-specific p48
            DNA-binding subunit of pancreas transcription factor 1 in cultured
            cells is under control of binding sites for transcription factors
            Sp1 and alphaCbf
  JOURNAL   J Biol Chem 271 (36), 21993-22002 (1996)
   PUBMED   8703005
REFERENCE   7  (bases 1 to 1545)
  AUTHORS   Krapp,A., Knofler,M., Frutiger,S., Hughes,G.J., Hagenbuchle,O. and
            Wellauer,P.K.
  TITLE     The p48 DNA-binding subunit of transcription factor PTF1 is a new
            exocrine pancreas-specific basic helix-loop-helix protein
  JOURNAL   EMBO J 15 (16), 4317-4329 (1996)
   PUBMED   8861960
REFERENCE   8  (bases 1 to 1545)
  AUTHORS   De Leon,D.D. and Pinney,S.E.
  TITLE     Permanent Neonatal Diabetes Mellitus
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301620
REFERENCE   9  (bases 1 to 1545)
  AUTHORS   Sommer,L., Hagenbuchle,O., Wellauer,P.K. and Strubin,M.
  TITLE     Nuclear targeting of the transcription factor PTF1 is mediated by a
            protein subunit that does not bind to the PTF1 cognate sequence
  JOURNAL   Cell 67 (5), 987-994 (1991)
   PUBMED   1720355
REFERENCE   10 (bases 1 to 1545)
  AUTHORS   Roux,E., Strubin,M., Hagenbuchle,O. and Wellauer,P.K.
  TITLE     The cell-specific transcription factor PTF1 contains two different
            subunits that interact with the DNA
  JOURNAL   Genes Dev 3 (10), 1613-1624 (1989)
   PUBMED   2612907
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL139281.7, BM055347.1 and
            CK904916.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_178161.2.
            
            Summary: This gene encodes a protein that is a component of the
            pancreas transcription factor 1 complex (PTF1) and is known to have
            a role in mammalian pancreatic development. The protein plays a
            role in determining whether cells allocated to the pancreatic buds
            continue towards pancreatic organogenesis or revert back to
            duodenal fates. The protein is thought to be involved in the
            maintenance of exocrine pancreas-specific gene expression including
            elastase 1 and amylase. Mutations in this gene cause cerebellar
            agenesis and loss of expression is seen in ductal type pancreas
            cancers. [provided by RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: DRR138526.192110.1,
                                           DRR138526.189802.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2147920
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000376504.4/ ENSP00000365687.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-219               AL139281.7         110458-110676
            220-646             AL139281.7         110677-111103
            647-1161            BM055347.1         1-515
            1162-1545           CK904916.1         14-397              c
FEATURES             Location/Qualifiers
     source          1..1545
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10p12.2"
     gene            1..1545
                     /gene="PTF1A"
                     /gene_synonym="bHLHa29; p48; PACA; PAGEN2; PTF1-p48"
                     /note="pancreas associated transcription factor 1a"
                     /db_xref="GeneID:256297"
                     /db_xref="HGNC:HGNC:23734"
                     /db_xref="MIM:607194"
     exon            1..1003
                     /gene="PTF1A"
                     /gene_synonym="bHLHa29; p48; PACA; PAGEN2; PTF1-p48"
                     /inference="alignment:Splign:2.1.0"
     CDS             220..1206
                     /gene="PTF1A"
                     /gene_synonym="bHLHa29; p48; PACA; PAGEN2; PTF1-p48"
                     /note="bHLH transcription factor p48; class II bHLH
                     protein PTF1A; exocrine pancreas-specific transcription
                     factor p48; p48 DNA-binding subunit of transcription
                     factor PTF1; class A basic helix-loop-helix protein 29;
                     pancreas specific transcription factor, 1a"
                     /codon_start=1
                     /product="pancreas transcription factor 1 subunit alpha"
                     /protein_id="NP_835455.1"
                     /db_xref="CCDS:CCDS7143.1"
                     /db_xref="GeneID:256297"
                     /db_xref="HGNC:HGNC:23734"
                     /db_xref="MIM:607194"
                     /translation="MDAVLLEHFPGGLDAFPSSYFDEDDFFTDQSSRDPLEDGDELLA
                     DEQAEVEFLSHQLHEYCYRDGACLLLQPAPPAAPLALAPPSSGGLGEPDDGGGGGYCC
                     ETGAPPGGFPYSPGSPPSCLAYPCAGAAVLSPGARLRGLSGAAAAAARRRRRVRSEAE
                     LQQLRQAANVRERRRMQSINDAFEGLRSHIPTLPYEKRLSKVDTLRLAIGYINFLSEL
                     VQADLPLRGGGAGGCGGPGGGGRLGGDSPGSQAQKVIICHRGTRSPSPSDPDYGLPPL
                     AGHSLSWTDEKQLKEQNIIRTAKVWTPEDPRKLNSKSSFNNIENEPPFEFVS"
     exon            1004..1545
                     /gene="PTF1A"
                     /gene_synonym="bHLHa29; p48; PACA; PAGEN2; PTF1-p48"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1524..1529
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PTF1A"
                     /gene_synonym="bHLHa29; p48; PACA; PAGEN2; PTF1-p48"
                     /note="hexamer: AATAAA"
     polyA_site      1545
                     /gene="PTF1A"
                     /gene_synonym="bHLHa29; p48; PACA; PAGEN2; PTF1-p48"
                     /note="major polyA site"
ORIGIN      
        1 ccaggaagtc cgccacagcc ctccccagcg cagcgcgagc gcgggccaga gcgcagcggc
       61 cgcgggcact ccagggaggc ccgggggcgg gcagcccggc ggccgcctag ctgcccccag
      121 ccagggcccc gggagggagg ggctcggacg ggccttagaa actcaccaag aactaacacg
      181 cgcagcccgg cagtcccgct gcccactgcg gcggcgagca tggacgcggt gttgctggag
      241 cacttccccg ggggcctaga cgcctttcct tcttcgtact tcgacgagga cgacttcttc
      301 accgaccagt cttcacggga ccccctggag gacggcgatg agctgctggc ggacgagcag
      361 gccgaggtgg agttccttag ccaccagctc cacgagtact gctaccgcga cggggcgtgc
      421 ctgctgctgc agcccgcgcc cccggccgcc ccgctagcgc tcgccccgcc gtcctcgggg
      481 ggcctcggtg agccagacga cggcggcggc ggcggctact gctgcgagac gggggcgccc
      541 ccaggcggct tcccctactc gcccggctcg ccgccctcgt gcctggccta cccgtgcgcc
      601 ggggcggcag tactgtctcc cggggcgcgg ctgcgcggcc tgagcggagc ggcggctgcg
      661 gcggcgcggc gccggcggcg ggtgcgctcc gaggcggagc tgcagcagct gcggcaggcg
      721 gccaacgtgc gcgagcggcg gcgcatgcag tccatcaacg acgccttcga ggggctgcgc
      781 tcgcacatcc ccacgctgcc ctacgagaag cgcctctcca aggtggacac gctgcgcctg
      841 gccatcggct acatcaactt cctcagcgag ctcgtgcagg ccgacctgcc cttgcgcggc
      901 ggtggcgcgg gcggctgcgg ggggccgggc ggcggcgggc gcctgggcgg ggacagcccg
      961 ggcagccagg cccagaaggt catcatctgc catcggggca cccggtcccc ctcccccagc
     1021 gaccctgatt atggcctccc tcccctagca ggacactctc tctcatggac tgatgaaaaa
     1081 caactcaagg aacaaaatat tatccgaaca gccaaagtct ggaccccaga ggaccccaga
     1141 aaactcaaca gcaaatcttc cttcaacaac atagaaaacg aaccaccatt tgagtttgtg
     1201 tcctgagaag tcccagactc ggctgaagat ctgattatgt ctctgtgcat attgtacatg
     1261 taaatatcta taatgtaaat gtaatttaag aatcaaattt ttcgaatggc aatcaactgt
     1321 ttattattta tctatttatt atcctgttga gttgatgaaa tagatgattt ctttttaaat
     1381 atataattta tataacttat cctgattttc tgaaaatatg caatagccta tgattttcct
     1441 gaactctgtg ttgttgggag aactctggcc agaaaacgtc ctgcttattt attgccagat
     1501 atggtttatt tctaagcgtt gtcaataaat gctatttaca ccttt
//
