Ptf1a MGI Mouse Gene Detail - MGI:1328312 - pancreas specific transcription factor, 1a

Symbol

Ptf1a
Name

pancreas specific transcription factor, 1a
Synonyms

bHLHa29, PTF1-p48

Feature Type

protein coding gene
IDs

MGI:1328312
NCBI Gene: 19213
Alliance

gene page
Transcription Start Sites

1 TSS
Regulated by

Rr499, Rr41803, Rr500 ... (4 regulatory regions)

Sequence Map

Chr2:19450474-19452312 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 2, 13.37 cM, cytoband A2
Mapping Data

2 experiments

SNPs within 2kb

104 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1328312	protein coding gene	Chr2:19450474-19452312 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0025382	protein coding gene	Chr2:17187067-17188905 (+)
A/J	MGP_AJ_G0025360	protein coding gene	Chr2:16478938-16480776 (+)
AKR/J	MGP_AKRJ_G0025328	protein coding gene	Chr2:17050952-17052790 (+)
BALB/cJ	MGP_BALBcJ_G0025355	protein coding gene	Chr2:16537205-16539043 (+)
C3H/HeJ	MGP_C3HHeJ_G0025115	protein coding gene	Chr2:16958085-16959923 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0025798	protein coding gene	Chr2:17654061-17655899 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0023213	protein coding gene	Chr2:15857611-15859437 (+)
CAST/EiJ	MGP_CASTEiJ_G0024579	protein coding gene	Chr2:16912896-16914734 (+)
CBA/J	MGP_CBAJ_G0025094	protein coding gene	Chr2:18410270-18412108 (+)
DBA/2J	MGP_DBA2J_G0025226	protein coding gene	Chr2:16419072-16420910 (+)
FVB/NJ	MGP_FVBNJ_G0025189	protein coding gene	Chr2:16223710-16225548 (+)
LP/J	MGP_LPJ_G0025313	protein coding gene	Chr2:17004231-17006069 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0025220	protein coding gene	Chr2:18357381-18359210 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0025856	protein coding gene	Chr2:16988466-16990304 (+)
PWK/PhJ	MGP_PWKPhJ_G0024328	protein coding gene	Chr2:16295031-16296869 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0024128	protein coding gene	Chr2:17122607-17124445 (+)
WSB/EiJ	MGP_WSBEiJ_G0024649	protein coding gene	Chr2:17067068-17068906 (+)

Human Ortholog

PTF1A, pancreas associated transcription factor 1a

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

PTF1A, pancreas associated transcription factor 1a
Synonyms

bHLHa29, p48, PACA, PAGEN2, PTF1-p48
Links

HGNC:23734

NCBI Gene ID: 256297

neXtProt AC: NX_Q7RTS3

UniProt: Q7RTS3
Chr Location

10p12.2; chr10:23192312-23194245 (+) GRCh38

MGI Vertebrate Homology

Ptf1a stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: PTF1A
Gene Tree

Ptf1a

Diseases

1 with human PTF1A associations

				Human Disease	Mouse Models
				pancreatic agenesis 2 IDs pancreatic agenesis 2 DOID:0060988 OMIM:615935

Click on a disease name to see all genes associated with that disease.

Mutations/Alleles

2 with disease annotations

References

6 with disease annotations

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Phenotype Summary

26 phenotypes from 4 alleles in 4 genetic backgrounds
106 phenotypes from multigenic genotypes
8 images
452 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

25
Endonuclease-mediated

4
Targeted

20
Transgenic

1
Incidental Mutations

APF , CvDC
Find Mice (IMSR)

31 strains or lines available
Comparison Matrix

Gene Expression + Phenotype
Recombinase Activity

Comparison Matrix Gene Expression + Recombinase Activity

Nullizygous mice show neonatal death, exocrine pancreas and cerebellum agenesis, hypoglycemia and relocation of endocrine cells to the spleen. Knock-in mutations can lead to neonatal death, absent pancreas, altered GABAergic neuronal fate and retinal dysplasia due to misspecified retinal precursors.

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All GO Annotations

76
GO References

26

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

1158
Tissues

207
cDNA Data

12
Literature Summary

198

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GENSAT

GEO

Expression Atlas
Other Vertebrate Links

Xenbase ptf1a

ZFIN ptf1a

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All Sequences

36
RefSeq

2
UniProt

2
CCDS

CCDS15715.1

Ensembl

ENSMUSG00000026735 (Evidence)
NCBI Gene

19213

			Length	Strain/Species	Flank
genomic	19213	NCBI Gene Model \| MGI Sequence Detail	1839	C57BL/6J	± kb
transcript	NM_018809	RefSeq \| MGI Sequence Detail	1508	C57BL/6
polypeptide	Q9QX98	UniProt \| EBI \| MGI Sequence Detail	324	Not Applicable

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UniProt

2 Sequences
Protein Ontology

PR:000013418 pancreas transcription factor 1 subunit alpha

(term hierarchy)
InterPro Domains

IPR050283 E-box Binding Transcriptional Regulators

IPR036638 Helix-loop-helix DNA-binding domain superfamily

IPR011598 Myc-type, basic helix-loop-helix (bHLH) domain

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All nucleic 33

cDNA 16

Primer pair 13

Other 4

Microarray probesets 5

Summaries

All 655

Developmental Gene Expression 198

Diseases 6

Gene Ontology 26

Phenotypes 452
Earliest

J:50645 Petrucco S, et al., The DNA-binding activity of transcription factor PTF1 parallels the synthesis of pancreas-specific mRNAs during mouse development. Mol Cell Biol. 1990 Jan;10(1):254-64
Latest

J:363223 Li H, et al., Disrupting AGR2/IGF1 paracrine and reciprocal signaling for pancreatic cancer therapy. Cell Rep Med. 2025 Feb 18;6(2):101927

Ptf1a expression regulated by:

Feature	Feature Type	Location	Reference
Rr499, regulatory region 499	enhancer	Chr2:19434901-19437198	J:139869
Rr41803, regulatory region 41803	CTCF binding site	Chr2:19436001-19436200	J:139869
Rr500, regulatory region 500	enhancer	Chr2:19452843-19465279	J:139869
Rr344, regulatory region 344	enhancer	Chr2:19476615-19477024	J:328047

TSS for Ptf1a:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr16415	Chr2:19450443-19450462 (+)	-21 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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