Gene
hnf1a
- ID
- ZDB-GENE-021206-12
- Name
- HNF1 homeobox a
- Symbol
- hnf1a Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 8 Mapping Details/Browsers
- Description
- Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific; RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; and protein dimerization activity. Acts upstream of or within type B pancreatic cell development. Predicted to be active in nucleus. Human ortholog(s) of this gene implicated in several diseases, including artery disease (multiple); cerebral infarction; glucose metabolism disease (multiple); liver disease (multiple); and renal cell carcinoma. Orthologous to human HNF1A (HNF1 homeobox A).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 6 figures from 6 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- eu405 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- 4 figures from O'Hare et al., 2016
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Allele | Type | Localization | Consequence | Mutagen | Supplier |
---|---|---|---|---|---|
zf4081 | Allele with one deletion | Exon 2 | Unknown | CRISPR |
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Targeting Reagent | Created Alleles | Citations |
---|---|---|
CRISPR1-hnf1a | O'Hare et al., 2016 | |
CRISPR2-hnf1a | Chen et al., 2022 | |
MO1-hnf1a | N/A | O'Hare et al., 2016 |
MO2-hnf1a | N/A | O'Hare et al., 2016 |
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Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
familial hepatic adenoma | Alliance | Hepatic adenoma, somatic | 142330 |
maturity-onset diabetes of the young type 3 | Alliance | MODY, type III | 600496 |
nonpapillary renal cell carcinoma | Alliance | Renal cell carcinoma | 144700 |
type 1 diabetes mellitus | Alliance | {Diabetes mellitus, insulin-dependent} | 222100 |
type 1 diabetes mellitus 20 | Alliance | Diabetes mellitus, insulin-dependent, 20 | 612520 |
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Domain, Family, and Site Summary
Type | InterPro ID | Name |
---|---|---|
Domain | IPR001356 | Homeodomain |
Domain | IPR006897 | Hepatocyte nuclear factor 1, beta isoform, C-terminal |
Domain | IPR006898 | Hepatocyte nuclear factor 1, alpha isoform C-terminal |
Domain | IPR006899 | Hepatocyte nuclear factor 1, N-terminal |
Domain | IPR044866 | HNF-1, dimerization domain |
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Domain Details Per Protein
Protein | Additional Resources | Length | Hepatocyte nuclear factor 1 | Hepatocyte nuclear factor 1, alpha isoform C-terminal | Hepatocyte nuclear factor 1, beta isoform, C-terminal | Hepatocyte nuclear factor 1, N-terminal | HNF-1, dimerization domain | HNF-1, POU-specific (POUs) atypical domain | Homedomain-like superfamily | Homeodomain | Lambda repressor-like, DNA-binding domain superfamily |
---|---|---|---|---|---|---|---|---|---|---|---|
UniProtKB:Q8UVH4 | InterPro | 560 |
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Interactions and Pathways
No data available
Plasmids
No data available
Relationship | Marker Type | Marker | Accession Numbers | Citations |
---|---|---|---|---|
Contained in | BAC | CH211-170D8 | ZFIN Curated Data | |
Contained in | BAC | DKEY-117K10 | ZFIN Curated Data | |
Encodes | EST | af244934 | ||
Encodes | EST | eu405 | Thisse et al., 2005 | |
Encodes | cDNA | MGC:194574 | ZFIN Curated Data | |
Encodes | cDNA | MGC:194584 | ZFIN Curated Data |
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Type | Accession # | Sequence | Length (nt/aa) | Analysis |
---|---|---|---|---|
RNA | RefSeq:NM_170764 (1) | 2979 nt | ||
Genomic | GenBank:CR376731 (2) | 130762 nt | ||
Polypeptide | UniProtKB:Q8UVH4 (1) | 560 aa |
- Deebani, A., Mary, J., Dhinoja, S., Al Qaryoute, A., Fallatah, W., Jagadeeswaran, P. (2025) Knockdown of zebrafish tmem242 enhances the production of ROS that signals to increase f9a expression resulting in DIC-like condition. Scientific Reports. 15:30583058
- Lin, B., Wan, H., Yang, J., Yu, L., Zhou, H., Wan, H. (2024) Lipid regulation of protocatechualdehyde and hydroxysafflor yellow A via AMPK/SREBP2/PCSK9/LDLR signaling pathway in hyperlipidemic zebrafish. Heliyon. 10:e24908e24908
- Chen, Y., Jia, J., Zhao, Q., Zhang, Y., Huang, B., Wang, L., Tian, J., Huang, C., Li, M., Li, X. (2022) Novel Loss-of-Function Variant in HNF1a Induces β-Cell Dysfunction through Endoplasmic Reticulum Stress. International Journal of Molecular Sciences. 23(21):
- Ruggiero, G., Ben-Moshe Livne, Z., Wexler, Y., Geyer, N., Vallone, D., Gothilf, Y., Foulkes, N.S. (2021) Period 2: A Regulator of Multiple Tissue-Specific Circadian Functions. Frontiers in molecular neuroscience. 14:718387
- Qiu, W., Chen, B., Greer, J., Magnuson, J., Xiong, Y., Zhong, H., Andrzejczyk, N.E., Zheng, C., Schlenk, D. (2019) Transcriptomic responses of Bisphenol S predict involvement of immune function in the cardiotoxicity of early life stage zebrafish (Danio rerio). Environmental science & technology. 54(5):2869-2877
- O'Hare, E.A., Yerges-Armstrong, L.M., Perry, J.A., Shuldiner, A.R., Zaghloul, N.A. (2016) Assignment of Functional Relevance to Genes at Type 2 Diabetes-Associated Loci Through Investigation of β-Cell Mass Deficits. Molecular endocrinology (Baltimore, Md.). 30(4):429-45
- Elkon, R., Milon, B., Morrison, L., Shah, M., Vijayakumar, S., Racherla, M., Leitch, C.C., Silipino, L., Hadi, S., Weiss-Gayet, M., Barras, E., Schmid, C.D., Ait-Lounis, A., Barnes, A., Song, Y., Eisenman, D.J., Eliyahu, E., Frolenkov, G.I., Strome, S.E., Durand, B., Zaghloul, N.A., Jones, S.M., Reith, W., Hertzano, R. (2015) RFX transcription factors are essential for hearing in mice. Nature communications. 6:8549
- Wehner, D., Cizelsky, W., Vasudevaro, M.D., Özhan, G., Haase, C., Kagermeier-Schenk, B., Röder, A., Dorsky, R.I., Moro, E., Argenton, F., Kühl, M., and Weidinger, G. (2014) Wnt/β-Catenin Signaling Defines Organizing Centers that Orchestrate Growth and Differentiation of the Regenerating Zebrafish Caudal Fin. Cell Reports. 6(3):467-481
- Li, Y., Li, G., Wang, H., Du, J., and Yan, J. (2013) Analysis of a gene regulatory cascade mediating circadian rhythm in zebrafish. PLoS Computational Biology. 9(2):e1002940
- Eroglu, B., Wang, G., Tu, N., Sun, X., and Mivechi, N.F. (2006) Critical role of Brg1 member of the SWI/SNF chromatin remodeling complex during neurogenesis and neural crest induction in zebrafish. Developmental Dynamics : an official publication of the American Association of Anatomists. 235(10):2722-2735
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