WormBase Tree Display for Gene: WBGene00000240
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| WBGene00000240 | SMap | S_parent | Sequence | K08F8 | |||||
|---|---|---|---|---|---|---|---|---|---|
| Identity | Version | 2 | |||||||
| Name | CGC_name | pah-1 | Person_evidence | WBPerson384 | |||||
| Sequence_name | K08F8.4 | ||||||||
| Molecular_name | K08F8.4a | ||||||||
| K08F8.4a.1 | |||||||||
| CE21050 | |||||||||
| K08F8.4b | |||||||||
| CE47563 | |||||||||
| K08F8.4b.1 | |||||||||
| Other_name | AAH/1 | ||||||||
| bas-2 | Person_evidence | WBPerson384 | |||||||
| CELE_K08F8.4 | Accession_evidence | NDB | BX284602 | ||||||
| Public_name | pah-1 | ||||||||
| DB_info | Database (12) | ||||||||
| Species | Caenorhabditis elegans | ||||||||
| History | Version_change | 1 | 07 Apr 2004 11:29:20 | WBPerson1971 | Event | Imported | Initial conversion from geneace | ||
| 2 | 06 May 2005 10:44:15 | WBPerson2970 | Name_change | CGC_name | pah-1 | ||||
| Status | Live | ||||||||
| Gene_info | Biotype | SO:0001217 | |||||||
| Gene_class | pah | ||||||||
| Allele (59) | |||||||||
| Legacy_information | [C.elegansII] NMK. Encodes predicted biogenic amine synthesis enzyme. [LC] | ||||||||
| [Loer CM] Encodes a biopterin-dependent aromatic amino acid hydroxylase believed to be phenylalanine hydroxylase (phenylalanine 4-monooxygenase, EC 1.14.16.1, PheH, PAH). Loer et al., 1999, Journal of Neurogenetics, 13(3): 157-180 | |||||||||
| Strain | WBStrain00024113 | ||||||||
| WBStrain00024114 | |||||||||
| WBStrain00031570 | |||||||||
| WBStrain00055119 | |||||||||
| WBStrain00055118 | |||||||||
| WBStrain00055120 | |||||||||
| WBStrain00055121 | |||||||||
| RNASeq_FPKM (74) | |||||||||
| GO_annotation (36) | |||||||||
| Ortholog (34) | |||||||||
| Paralog | WBGene00000296 | Caenorhabditis elegans | From_analysis | TreeFam | |||||
| Panther | |||||||||
| WormBase-Compara | |||||||||
| WBGene00006600 | Caenorhabditis elegans | From_analysis | TreeFam | ||||||
| Panther | |||||||||
| WormBase-Compara | |||||||||
| Structured_description | Concise_description | pah-1 encodes a biochemically active phenylalanine-4-hydroxylase orthologous to human PAH; recombinant PAH-1 has hydroxylase activity on phenylalanine and tryptophan substrates in vitro; pah-1 is expressed in seam cells, tail hypodermal cells, and ventral hypodermis, with stronger posterior than anterior expression; PAH-1 might help provide tyrosine for cross-linking in the cuticle, and is partially required for the tyrosinemic phenotype of K10C2.4(RNAi) animals; pah-1 is also required for melanin biosynthesis, the loss of which is associated with increased superoxide dismutase activity; animals doubly mutant for pah-1 and bli-3 exhibit severe cuticle defects. | Paper_evidence | WBPaper00003783 | |||||
| WBPaper00003903 | |||||||||
| WBPaper00004637 | |||||||||
| WBPaper00031468 | |||||||||
| WBPaper00031861 | |||||||||
| Curator_confirmed | WBPerson1843 | ||||||||
| WBPerson1823 | |||||||||
| WBPerson567 | |||||||||
| Date_last_updated | 06 Feb 2009 00:00:00 | ||||||||
| Automated_description | Enables phenylalanine 4-monooxygenase activity and tryptophan 5-monooxygenase activity. Involved in several processes, including aromatic amino acid metabolic process; determination of adult lifespan; and melanin biosynthetic process. Predicted to be located in cytoplasm. Expressed in hypodermis; seam cell; and tail. Used to study phenylketonuria. Human ortholog(s) of this gene implicated in intellectual disability and phenylketonuria. Is an ortholog of human PAH (phenylalanine hydroxylase). | Paper_evidence | WBPaper00065943 | ||||||
| Curator_confirmed | WBPerson324 | ||||||||
| WBPerson37462 | |||||||||
| Inferred_automatically | This description was generated automatically by a script based on data from the WS291 version of WormBase | ||||||||
| Date_last_updated | 29 Nov 2023 00:00:00 | ||||||||
| Disease_info | Experimental_model | DOID:9281 | Homo sapiens | Paper_evidence | WBPaper00031861 | ||||
| Accession_evidence | OMIM | 261600 | |||||||
| Curator_confirmed | WBPerson324 | ||||||||
| Date_last_updated | 30 Oct 2018 00:00:00 | ||||||||
| Potential_model | DOID:9281 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:8582) | |||||
| DOID:1059 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:8582) | ||||||
| Disease_relevance | In humans, mutations in the phenylalanine hydroxylase (PAH) gene causes the autosomal recessive disease, Phenylketonuria (PKU), characterized by increased levels of the amino acid, phenylalanine (L-Phe)in the blood; if untreated, phenylalanine can build up to harmful levels in the body, causing intellectual disability, neurological damage and other problems; PAH catalyses the hydroxylation of phenylalanine to tyrosine, the rate-limiting step in phenylalanine catabolism; C. elegans PAH, pah-1 has similar molecular and kinetic properties, and though pah-1 mutants do not seem to exhibit obvious neurological defects, pah-1 is required for the synthesis of a melanin-like compound in the elegans cuticle, and pah-1 mutants show stimulation of superoxide dismutase activity, suggesting that cuticle melanin functions as an oxygen radical scavenger; oxidative stress may be involved in the neuropathology of PKU, since elevated concentrations of L-Phe have an inhibiting effect on components of the mammalian antioxidant system; studies in the elegans model will help elucidate links between oxidative stress and PKU, and the role of melanin in PKU. | Homo sapiens | Paper_evidence | WBPaper00031861 | |||||
| Accession_evidence | OMIM | 261600 | |||||||
| 612349 | |||||||||
| Curator_confirmed | WBPerson324 | ||||||||
| Date_last_updated | 01 May 2014 00:00:00 | ||||||||
| Models_disease_asserted | WBDOannot00000239 | ||||||||
| WBDOannot00000626 | |||||||||
| Molecular_info | Corresponding_CDS | K08F8.4a | |||||||
| K08F8.4b | |||||||||
| Corresponding_transcript | K08F8.4a.1 | ||||||||
| K08F8.4b.1 | |||||||||
| Other_sequence (82) | |||||||||
| Associated_feature | WBsf650364 | ||||||||
| WBsf665852 | |||||||||
| WBsf717020 | |||||||||
| WBsf988817 | |||||||||
| WBsf988818 | |||||||||
| WBsf1012743 | |||||||||
| WBsf223545 | |||||||||
| Experimental_info | RNAi_result | WBRNAi00027881 | Inferred_automatically | RNAi_primary | |||||
| WBRNAi00050330 | Inferred_automatically | RNAi_primary | |||||||
| Expr_pattern | Expr1234 | ||||||||
| Expr1235 | |||||||||
| Expr1025851 | |||||||||
| Expr1030154 | |||||||||
| Expr1154032 | |||||||||
| Expr2014685 | |||||||||
| Expr2032918 | |||||||||
| Drives_construct | WBCnstr00010168 | ||||||||
| WBCnstr00020334 | |||||||||
| WBCnstr00037637 | |||||||||
| Construct_product | WBCnstr00010168 | ||||||||
| WBCnstr00037637 | |||||||||
| Antibody | WBAntibody00000253 | ||||||||
| Microarray_results (19) | |||||||||
| Expression_cluster (189) | |||||||||
| Interaction (52) | |||||||||
| Map_info | Map | II | Position | 0.883822 | Error | 0.001623 | |||
| Positive | Positive_clone | CK#CLS12 | Person_evidence | WBPerson384 | |||||
| K08F8 | Inferred_automatically | From sequence, transcript, pseudogene data | |||||||
| Mapping_data | Multi_point | 4168 | |||||||
| 4328 | |||||||||
| Pseudo_map_position | |||||||||
| Reference (10) | |||||||||
| Remark | Map position created from combination of previous interpolated map position (based on known location of sequence) and allele information. Therefore this is not a genetic map position based on recombination frequencies or genetic experiments. This was done on advice of the CGC. | CGC_data_submission | |||||||
| Method | Gene |
