Q7RTS3 (PTF1A_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

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 names

Name:	PTF1A
Synonyms:	BHLHA29, PTF1P48

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	328 AA.
Sequence status	Complete.
Protein existence	Evidence 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 process	Differentiation Transcription Transcription regulation
Cellular component	Cytoplasm Nucleus
Coding sequence diversity	Polymorphism
Disease	Diabetes mellitus
Ligand	DNA-binding
Molecular function	Developmental protein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	embryo development Inferred from electronic annotation. Source: Compara 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: Compara neuron fate commitment Inferred from electronic annotation. Source: Compara regulation of transcription, DNA-dependent Inferred from sequence or structural similarity. Source: UniProtKB retina morphogenesis in camera-type eye Inferred from electronic annotation. Source: Compara retinoic acid receptor signaling pathway Inferred from electronic annotation. Source: Compara tissue development Inferred from direct assay PubMed 12185368. Source: UniProtKB
Cellular_component	cytoplasm Inferred from sequence or structural similarity. Source: UniProtKB transcription factor complex Inferred from sequence or structural similarity. Source: UniProtKB
Molecular_function	DNA 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: Compara sequence-specific DNA binding Inferred from electronic annotation. Source: Compara
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 328	328	Pancreas transcription factor 1 subunit alpha		PRO_0000233143
Regions
	Domain	163 – 215	53	bHLH
	Compositional bias	227 – 248	22	Gly-rich
Natural variations
	Natural variant	263	1	S → P. Corresponds to variant rs7918487 [ dbSNP | Ensembl ].		VAR_049548

Sequences

	Sequence		Length	Mass (Da)
	Q7RTS3 [UniParc]. Last modified December 15, 2003. Version 1. Checksum: 5AC84B482C55CEC3	FASTA	328	34,970
	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

References

	« Hide 'large scale' referencesShow '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. , 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

GeneReviews

Cross-references

Sequence databases
EMBL GenBank DDBJ	AL139281 Genomic DNA. Translation: CAI12668.1. AF181999 mRNA. Translation: AAG09441.1. BK000272 Genomic DNA. Translation: DAA01052.1.
IPI	IPI00160766.
RefSeq	NP_835455.1. NM_178161.2.
UniGene	Hs.351503.
3D structure databases
ProteinModelPortal	Q7RTS3.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000365687.
PTM databases
PhosphoSite	Q7RTS3.
Polymorphism databases
DMDM	74749931.
Proteomic databases
PaxDb	Q7RTS3.
PRIDE	Q7RTS3.
Protocols and materials databases
DNASU	256297.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000376504; ENSP00000365687; ENSG00000168267.
GeneID	256297.
KEGG	hsa:256297.
UCSC	uc001irp.3. human.
Organism-specific databases
CTD	256297.
GeneCards	GC10P023521.
HGNC	HGNC:23734. PTF1A.
HPA	CAB022612.
MIM	607194. gene. 609069. phenotype.
neXtProt	NX_Q7RTS3.
Orphanet	65288. Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis.
PharmGKB	PA134864129.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG288112.
HOGENOM	HOG000231913.
HOVERGEN	HBG082224.
InParanoid	Q7RTS3.
KO	K09073.
OMA	HQLHEYC.
OrthoDB	EOG4RXZ16.
PhylomeDB	Q7RTS3.
Enzyme and pathway databases
Reactome	REACT_111045. Developmental Biology.
Gene expression databases
Bgee	Q7RTS3.
CleanEx	HS_PTF1A.
Genevestigator	Q7RTS3.
Family and domain databases
Gene3D	4.10.280.10. 1 hit.
InterPro	IPR011598. bHLH_dom. [Graphical view]
Pfam	PF00010. HLH. 1 hit. [Graphical view]
SMART	SM00353. HLH. 1 hit. [Graphical view]
SUPFAM	SSF47459. HLH_basic. 1 hit.
PROSITE	PS50888. BHLH. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	256297.
NextBio	92768.
SOURCE	Search...

Entry information

Entry name

PTF1A_HUMAN

Accession

Primary (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:	May 1, 2013
This is version 90 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.