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Pancreas transcription factor 1 subunit alpha (Class A basic helix-loop-helix protein 29) (bHLHa29) (Pancreas-specific transcription factor 1a) (bHLH transcription factor p48) (p48 DNA-binding subunit of transcription factor PTF1) (PTF1-p48)

 PTF1A_HUMAN             Reviewed;         328 AA.
Q7RTS3; Q9HC25;
02-MAY-2006, integrated into UniProtKB/Swiss-Prot.
15-DEC-2003, sequence version 1.
23-MAY-2018, entry version 129.
RecName: Full=Pancreas transcription factor 1 subunit alpha;
AltName: Full=Class A basic helix-loop-helix protein 29;
Short=bHLHa29;
AltName: Full=Pancreas-specific transcription factor 1a;
AltName: Full=bHLH transcription factor p48;
AltName: Full=p48 DNA-binding subunit of transcription factor PTF1;
Short=PTF1-p48;
Name=PTF1A; Synonyms=BHLHA29, PTF1P48;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=15164054; DOI=10.1038/nature02462;
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.;
"The DNA sequence and comparative analysis of human chromosome 10.";
Nature 429:375-381(2004).
[2]
NUCLEOTIDE SEQUENCE [MRNA] OF 168-215, FUNCTION, SUBCELLULAR LOCATION,
AND TISSUE SPECIFICITY.
PubMed=10768861;
Adell T., Gomez-Cuadrado A., Skoudy A., Pettengill O.S.,
Longnecker D.S., Real F.X.;
"Role of the basic helix-loop-helix transcription factor p48 in the
differentiation phenotype of exocrine pancreas cancer cells.";
Cell Growth Differ. 11:137-147(2000).
[3]
IDENTIFICATION.
PubMed=12617822; DOI=10.1016/S0925-4773(02)00390-8;
McLellan A.S., Langlands K., Kealey T.;
"Exhaustive identification of human class II basic helix-loop-helix
proteins by virtual library screening.";
Gene Expr. Patterns 2:329-335(2002).
[4]
INVOLVEMENT IN PACA, AND FUNCTION IN PANCREAS AND CEREBELLAR
DEVELOPMENT.
PubMed=15543146; DOI=10.1038/ng1475;
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.;
"Mutations in PTF1A cause pancreatic and cerebellar agenesis.";
Nat. Genet. 36:1301-1305(2004).
[5]
INVOLVEMENT IN PAGEN2.
PubMed=24212882; DOI=10.1038/ng.2826;
International Pancreatic Agenesis Consortium;
Weedon M.N., Cebola I., Patch A.M., Flanagan S.E., De Franco E.,
Caswell R., Rodriguez-Segui S.A., Shaw-Smith C., Cho C.H.,
Lango Allen H., Houghton J.A., Roth C.L., Chen R., Hussain K.,
Marsh P., Vallier L., Murray A., Ellard S., Ferrer J.,
Hattersley A.T.;
"Recessive mutations in a distal PTF1A enhancer cause isolated
pancreatic agenesis.";
Nat. Genet. 46:61-64(2014).
-!- FUNCTION: 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.
{ECO:0000269|PubMed:10768861, ECO:0000269|PubMed:15543146}.
-!- SUBUNIT: 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).
{ECO:0000250}.
-!- SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-
ProRule:PRU00981}. Cytoplasm {ECO:0000250}. 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). {ECO:0000250}.
-!- TISSUE SPECIFICITY: Pancreas-specific (at protein level). Loss of
expression is seen in ductal type pancreas cancers.
{ECO:0000269|PubMed:10768861}.
-!- 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. {ECO:0000269|PubMed:15543146}. Note=The disease
is caused by mutations affecting the gene represented in this
entry.
-!- DISEASE: Pancreatic agenesis 2 (PAGEN2) [MIM:615935]: A 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. {ECO:0000269|PubMed:24212882}. Note=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).
{ECO:0000269|PubMed:24212882}.
-!- MISCELLANEOUS: An excellent marker of acinar cell differentiation
in the pancreas.
-----------------------------------------------------------------------
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-----------------------------------------------------------------------
EMBL; AL139281; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; AF181999; AAG09441.1; -; mRNA.
EMBL; BK000272; DAA01052.1; -; Genomic_DNA.
CCDS; CCDS7143.1; -.
RefSeq; NP_835455.1; NM_178161.2.
UniGene; Hs.351503; -.
ProteinModelPortal; Q7RTS3; -.
SMR; Q7RTS3; -.
BioGrid; 129154; 13.
CORUM; Q7RTS3; -.
STRING; 9606.ENSP00000365687; -.
iPTMnet; Q7RTS3; -.
PhosphoSitePlus; Q7RTS3; -.
BioMuta; PTF1A; -.
DMDM; 74749931; -.
MaxQB; Q7RTS3; -.
PaxDb; Q7RTS3; -.
PeptideAtlas; Q7RTS3; -.
PRIDE; Q7RTS3; -.
DNASU; 256297; -.
Ensembl; ENST00000376504; ENSP00000365687; ENSG00000168267.
GeneID; 256297; -.
KEGG; hsa:256297; -.
UCSC; uc001irp.4; human.
CTD; 256297; -.
DisGeNET; 256297; -.
EuPathDB; HostDB:ENSG00000168267.5; -.
GeneCards; PTF1A; -.
HGNC; HGNC:23734; PTF1A.
HPA; CAB022612; -.
MalaCards; PTF1A; -.
MIM; 607194; gene.
MIM; 609069; phenotype.
MIM; 615935; phenotype.
neXtProt; NX_Q7RTS3; -.
OpenTargets; ENSG00000168267; -.
Orphanet; 2805; Partial pancreatic agenesis.
Orphanet; 65288; Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis.
PharmGKB; PA134864129; -.
eggNOG; KOG4029; Eukaryota.
eggNOG; ENOG411227D; LUCA.
GeneTree; ENSGT00730000110958; -.
HOGENOM; HOG000231913; -.
HOVERGEN; HBG082224; -.
InParanoid; Q7RTS3; -.
KO; K09073; -.
OMA; HQLHEYC; -.
OrthoDB; EOG091G0RR2; -.
PhylomeDB; Q7RTS3; -.
TreeFam; TF315153; -.
Reactome; R-HSA-210747; Regulation of gene expression in early pancreatic precursor cells.
GeneWiki; PTF1A; -.
GenomeRNAi; 256297; -.
PRO; PR:Q7RTS3; -.
Proteomes; UP000005640; Chromosome 10.
Bgee; ENSG00000168267; -.
CleanEx; HS_PTF1A; -.
ExpressionAtlas; Q7RTS3; baseline and differential.
GO; GO:0005737; C:cytoplasm; ISS:UniProtKB.
GO; GO:0005634; C:nucleus; ISS:UniProtKB.
GO; GO:0005667; C:transcription factor complex; ISS:UniProtKB.
GO; GO:0003682; F:chromatin binding; IEA:Ensembl.
GO; GO:0003677; F:DNA binding; ISS:UniProtKB.
GO; GO:0070888; F:E-box binding; IEA:Ensembl.
GO; GO:0046983; F:protein dimerization activity; IEA:InterPro.
GO; GO:0000980; F:RNA polymerase II distal enhancer sequence-specific DNA binding; IEA:Ensembl.
GO; GO:0000981; F:RNA polymerase II transcription factor activity, sequence-specific DNA binding; ISA:NTNU_SB.
GO; GO:0001077; F:transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding; IEA:Ensembl.
GO; GO:0035881; P:amacrine cell differentiation; ISS:UniProtKB.
GO; GO:0021549; P:cerebellum development; IMP:UniProtKB.
GO; GO:0031017; P:exocrine pancreas development; ISS:UniProtKB.
GO; GO:0048663; P:neuron fate commitment; IEA:Ensembl.
GO; GO:0031016; P:pancreas development; IMP:UniProtKB.
GO; GO:0061074; P:regulation of neural retina development; ISS:UniProtKB.
GO; GO:0006355; P:regulation of transcription, DNA-templated; ISS:UniProtKB.
GO; GO:0010842; P:retina layer formation; ISS:UniProtKB.
GO; GO:0048384; P:retinoic acid receptor signaling pathway; IEA:Ensembl.
GO; GO:0009888; P:tissue development; IDA:UniProtKB.
CDD; cd00083; HLH; 1.
Gene3D; 4.10.280.10; -; 1.
InterPro; IPR011598; bHLH_dom.
InterPro; IPR036638; HLH_DNA-bd_sf.
Pfam; PF00010; HLH; 1.
SMART; SM00353; HLH; 1.
SUPFAM; SSF47459; SSF47459; 1.
PROSITE; PS50888; BHLH; 1.
1: Evidence at protein level;
Complete proteome; Cytoplasm; Developmental protein;
Diabetes mellitus; Differentiation; DNA-binding; Neurogenesis;
Nucleus; Polymorphism; Reference proteome; Transcription;
Transcription regulation.
CHAIN 1 328 Pancreas transcription factor 1 subunit
alpha.
/FTId=PRO_0000233143.
DOMAIN 163 215 bHLH. {ECO:0000255|PROSITE-
ProRule:PRU00981}.
COMPBIAS 227 248 Gly-rich.
VARIANT 263 263 S -> P (in dbSNP:rs7918487).
/FTId=VAR_049548.
SEQUENCE 328 AA; 34970 MW; 5AC84B482C55CEC3 CRC64;
MDAVLLEHFP GGLDAFPSSY FDEDDFFTDQ SSRDPLEDGD ELLADEQAEV EFLSHQLHEY
CYRDGACLLL QPAPPAAPLA LAPPSSGGLG EPDDGGGGGY CCETGAPPGG FPYSPGSPPS
CLAYPCAGAA VLSPGARLRG LSGAAAAAAR RRRRVRSEAE LQQLRQAANV RERRRMQSIN
DAFEGLRSHI PTLPYEKRLS KVDTLRLAIG YINFLSELVQ ADLPLRGGGA GGCGGPGGGG
RLGGDSPGSQ AQKVIICHRG TRSPSPSDPD YGLPPLAGHS LSWTDEKQLK EQNIIRTAKV
WTPEDPRKLN SKSSFNNIEN EPPFEFVS


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