Gene
ptf1a
- ID
- ZDB-GENE-030616-579
- Name
- pancreas associated transcription factor 1a
- Symbol
- ptf1a Nomenclature History
- Previous Names
-
- Ptfa (1)
- si:zc142h2.2
- zgc:112216
- Type
- protein_coding_gene
- Location
- Chr: 2 Mapping Details/Browsers
- Description
- Enables DNA-binding transcription factor activity and sequence-specific DNA binding activity. Acts upstream of or within several processes, including exocrine pancreas development; neuron differentiation; and positive regulation of DNA-templated transcription. Predicted to be located in cytoplasm and nucleus. Predicted to be part of transcription regulator complex. Is expressed in several structures, including exocrine cell; intestinal bulb primordium; mid intestine; nervous system; and pancreatic system. Human ortholog(s) of this gene implicated in pancreatic agenesis 2. Orthologous to human PTF1A (pancreas associated transcription factor 1a).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 80 figures from 52 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- eu536 (18 images)
Wild Type Expression Summary
- All Phenotype Data
- 11 figures from 7 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Allele | Type | Localization | Consequence | Mutagen | Supplier |
---|---|---|---|---|---|
ihb164 | Allele with one deletion | Unknown | Unknown | CRISPR | |
ihb165 | Allele with one insertion | Unknown | Unknown | CRISPR | |
nub34 | Allele with one deletion | Exon 1 | Unknown | CRISPR | |
nub35 | Allele with one delins | Exon 1 | Unknown | CRISPR | |
nub121Tg | Transgenic insertion | Unknown | Unknown | DNA | |
s922 | Allele with one point mutation | Unknown | Missense | ENU | |
sa126 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa44533 | Allele with one point mutation | Unknown | Unknown | ENU | |
zf3781 | Allele with one deletion | Unknown | Unknown | CRISPR | |
zf3782 | Allele with one deletion | Unknown | Unknown | CRISPR |
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Targeting Reagent | Created Alleles | Citations |
---|---|---|
CRISPR1-ptf1a | Zebrafish Nomenclature Committee | |
CRISPR2-ptf1a | (2) | |
CRISPR3-ptf1a | (3) | |
CRISPR4-ptf1a | Wang et al., 2020 | |
CRISPR5-ptf1a | Wang et al., 2020 | |
CRISPR6-ptf1a | Wang et al., 2020 | |
CRISPR7-ptf1a | Wang et al., 2020 | |
MO1-ptf1a | N/A | (14) |
MO2-ptf1a | N/A | (5) |
MO3-ptf1a | N/A | (3) |
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Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
pancreatic agenesis 2 | Alliance | Pancreatic agenesis 2 | 615935 |
Pancreatic and cerebellar agenesis | 609069 |
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Domain, Family, and Site Summary
Domain Details Per Protein
Protein | Additional Resources | Length | E-box Binding Transcriptional Regulators | Helix-loop-helix DNA-binding domain superfamily | Myc-type, basic helix-loop-helix (bHLH) domain |
---|---|---|---|---|---|
UniProtKB:Q7ZSX3 | InterPro | 265 |
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Interactions and Pathways
No data available
Plasmids
No data available
Construct | Regulatory Region | Coding Sequence | Species | Tg Lines | Citations |
---|---|---|---|---|---|
Tg(ptf1a:EGFP) |
|
| 1 | (125) | |
Tg1(ptf1a-Mmu.Fos:EGFP) |
|
| 1 | (2) | |
Tg2(ptf1a-Mmu.Fos:EGFP) |
|
| 1 | (2) | |
Tg3(ptf1a-Mmu.Fos:EGFP) |
|
| 1 | (2) | |
Tg(-5.5ptf1a:DsRed) |
|
| 1 | (29) | |
Tg(-5.5ptf1a:mCherry-2A-Cre-ERT2) |
|
| 1 | Kaslin et al., 2017 | |
Tg(5xUAS:ptf1a,myl7:Cerulean) |
|
| 1 | Engerer et al., 2021 | |
TgBAC1(ptf1a:ptf1a-EGFP) |
|
| 1 | (2) | |
TgBAC2(ptf1a:ptf1a-EGFP) |
|
| 1 | (2) | |
TgBAC(ptf1a:Cre-ERT2) |
|
| 1 | (3) |
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Relationship | Marker Type | Marker | Accession Numbers | Citations |
---|---|---|---|---|
Contained in | BAC | CH211-142H2 | ZFIN Curated Data | |
Encodes | EST | eu536 | Thisse et al., 2005 | |
Encodes | cDNA | MGC:112216 | ZFIN Curated Data |
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Type | Accession # | Sequence | Length (nt/aa) | Analysis |
---|---|---|---|---|
RNA | RefSeq:NM_207641 (1) | 1211 nt | ||
Genomic | GenBank:AL845362 (2) | 161465 nt | ||
Polypeptide | UniProtKB:Q7ZSX3 (1) | 265 aa |
- Itoh, T., Uehara, M., Yura, S., Wang, J.C., Fujii, Y., Nakanishi, A., Shimizu, T., Hibi, M. (2024) Foxp- and Skor-family proteins control differentiation of Purkinje cells from Ptf1a and Neurogenin1-expressing progenitors in zebrafish. Development (Cambridge, England). 151(7):
- Xu, Y., Zhang, S., Bao, Y., Luan, J., Fu, Z., Sun, M., Zhao, X., Feng, X. (2024) Melatonin protects zebrafish pancreatic development and physiological rhythms from sodium propionate-induced disturbances via the hypothalamic-pituitary-thyroid axis. Journal of the science of food and agriculture. 104(12):7454-7463
- He, T., Sun, H., Xu, B., Qu, H., Cai, X., Zhou, H., Liu, Y., Lin, Z., Zhang, X. (2023) Novel bi-allelic variants of CHMP1A contribute to pontocerebellar hypoplasia type 8: additional clinical and genetic evidence. Frontiers in neurology. 14:12282181228218
- Letelier, J., Buono, L., Almuedo-Castillo, M., Zang, J., Mounieres, C., González-Díaz, S., Polvillo, R., Sanabria-Reinoso, E., Corbacho, J., Sousa-Ortega, A., Diez Del Corral, R., Neuhauss, S.C.F., Martínez-Morales, J.R. (2023) Mutation of vsx genes in zebrafish highlights the robustness of the retinal specification network. eLIFE. 12:
- Yang, F., Sun, H., Yang, Y., Wang, Y., Dai, S., Lin, Z., Shen, Y., Liu, H. (2023) Identification of POLR3B biallelic mutations -associated hypomyelinating leukodystrophy-8 in two siblings. Clinical genetics. 103(5):596-602
- Ahmed, M., Kojima, Y., Masai, I. (2022) Strip1 regulates retinal ganglion cell survival by suppressing Jun-mediated apoptosis to promote retinal neural circuit formation. eLIFE. 11:
- Bordeira-Carriço, R., Teixeira, J., Duque, M., Galhardo, M., Ribeiro, D., Acemel, R.D., Firbas, P.N., Tena, J.J., Eufrásio, A., Marques, J., Ferreira, F.J., Freitas, T., Carneiro, F., Goméz-Skarmeta, J.L., Bessa, J. (2022) Multidimensional chromatin profiling of zebrafish pancreas to uncover and investigate disease-relevant enhancers. Nature communications. 13:1945
- Coolen, M., Altin, N., Rajamani, K., Pereira, E., Siquier-Pernet, K., Puig Lombardi, E., Moreno, N., Barcia, G., Yvert, M., Laquerrière, A., Pouliet, A., Nitschké, P., Boddaert, N., Rausell, A., Razavi, F., Afenjar, A., Billette de Villemeur, T., Al-Maawali, A., Al-Thihli, K., Baptista, J., Beleza-Meireles, A., Garel, C., Legendre, M., Gelot, A., Burglen, L., Moutton, S., Cantagrel, V. (2022) Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cells differentiation. American journal of human genetics. 109(5):909-927
- Habicher, J., Manuel, R., Pedroni, A., Ferebee, C., Ampatzis, K., Boije, H. (2022) A new transgenic reporter line reveals expression of protocadherin 9 at a cellular level within the zebrafish central nervous system. Gene expression patterns : GEP. 44:119246
- Hehr, C.L., Halabi, R., McFarlane, S. (2022) Spatial regulation of amacrine cell genesis by Semaphorin 3f. Developmental Biology. 491:66-81
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