Gene
pah
- ID
- ZDB-GENE-031006-2
- Name
- phenylalanine hydroxylase
- Symbol
- pah Nomenclature History
- Previous Names
-
- cb877 (1)
- wu:fb02f10
- Type
- protein_coding_gene
- Location
- Chr: 4 Mapping Details/Browsers
- Description
- Predicted to enable phenylalanine 4-monooxygenase activity. Acts upstream of or within cellular response to estrogen stimulus. Is expressed in several structures, including digestive system; epidermis; eye; optic vesicle; and periderm. Human ortholog(s) of this gene implicated in intellectual disability and phenylketonuria. Orthologous to human PAH (phenylalanine hydroxylase).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 12 figures from 5 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cb877 (15 images)
- IMAGE:7144221 (7 images)
Wild Type Expression Summary
- All Phenotype Data
- 2 figures from Phenotype Annotation (1994-2006)
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
No data available
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| phenylketonuria | Alliance | Phenylketonuria | 261600 |
| phenylketonuria | Alliance | [Hyperphenylalaninemia, non-PKU mild] | 261600 |
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Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Binding_site | IPR018301 | Aromatic amino acid hydroxylase, iron/copper binding site |
| Domain | IPR002912 | ACT domain |
| Domain | IPR019774 | Aromatic amino acid hydroxylase, C-terminal |
| Domain | IPR041912 | Eukaryotic phenylalanine-4-hydroxylase, catalytic domain |
| Family | IPR001273 | Aromatic amino acid hydroxylase |
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Domain Details Per Protein
| Protein | Additional Resources | Length | ACT domain | ACT-like domain | Aromatic amino acid hydroxylase | Aromatic amino acid hydroxylase, C-terminal | Aromatic amino acid hydroxylase, iron/copper binding site | Aromatic amino acid hydroxylase superfamily | Aromatic amino acid monoxygenase, C-terminal domain superfamily | Eukaryotic phenylalanine-4-hydroxylase, catalytic domain | Phenylalanine-4-hydroxylase, tetrameric form | Tyrosine 3-monooxygenase-like |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:Q6PHI7 | InterPro | 449 |
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Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH211-260P3 | ZFIN Curated Data | |
| Contained in | BAC | DKEY-264K15 | ZFIN Curated Data | |
| Encodes | EST | cb877 | Thisse et al., 2001 | |
| Encodes | EST | fb02f10 | ||
| Encodes | EST | IMAGE:7144221 | Thisse et al., 2004 | |
| Encodes | cDNA | MGC:65981 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_200551 (1) | 2167 nt | ||
| Genomic | GenBank:BX511171 (1) | 166242 nt | ||
| Polypeptide | UniProtKB:Q6PHI7 (1) | 449 aa |
- Fabian, P., Tseng, K.C., Thiruppathy, M., Arata, C., Chen, H.J., Smeeton, J., Nelson, N., Crump, J.G. (2022) Lifelong single-cell profiling of cranial neural crest diversification in zebrafish. Nature communications. 13:13
- Zhang, J., Qian, L., Wang, C., Teng, M., Duan, M., Chen, X., Li, X., Wang, C. (2020) UPLC-TOF-MS/MS metabolomics analysis of zebrafish metabolism by spirotetramat. Environmental pollution (Barking, Essex : 1987). 266:115310
- Breuer, M., Guglielmi, L., Zielonka, M., Hemberger, V., Kölker, S., Okun, J.G., Hoffmann, G.F., Carl, M., Sauer, S.W., Opladen, T. (2019) QDPR homologues in Danio rerio regulate melanin synthesis, early gliogenesis, and glutamine homeostasis. PLoS One. 14:e0215162
- Fu, J., Tan, Y.X.R., Gong, Z., Bae, S. (2019) The toxic effect of triclosan and methyl-triclosan on biological pathways revealed by metabolomics and gene expression in zebrafish embryos. Ecotoxicology and environmental safety. 189:110039
- Lewis, V.M., Saunders, L.M., Larson, T.A., Bain, E.J., Sturiale, S.L., Gur, D., Chowdhury, S., Flynn, J.D., Allen, M.C., Deheyn, D.D., Lee, J.C., Simon, J.A., Lippincott-Schwartz, J., Raible, D.W., Parichy, D.M. (2019) Fate plasticity and reprogramming in genetically distinct populations of Danio leucophores. Proceedings of the National Academy of Sciences of the United States of America. 116(24):11806-11811
- Safian, D., Bogerd, J., Schulz, R.W. (2019) Regulation of spermatogonial development by Fsh: the complementary roles of locally produced Igf and Wnt signaling molecules in adult zebrafish testis. General and comparative endocrinology. 284:113244
- 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
- Steiner, A.B., Kim, T., Cabot, V., Hudspeth, A.J. (2014) Dynamic gene expression by putative hair-cell progenitors during regeneration in the zebrafish lateral line. Proceedings of the National Academy of Sciences of the United States of America. 111:E1393-401
- Ren, G., Li, S., Zhong, H., and Lin, S. (2013) Zebrafish tyrosine hydroxylase 2 Gene Encodes Tryptophan Hydroxylase. The Journal of biological chemistry. 288(31):22451-9
- Wu, Z., Zhang, W., Lu, Y., and Lu, C. (2010) Transcriptome profiling of zebrafish infected with Streptococcus suis. Microbial pathogenesis. 48(5):178-187
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