WormBase Tree Display for Gene: WBGene00000240
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WBGene00000240 | SMap | S_parent | Sequence | K08F8 | |||
---|---|---|---|---|---|---|---|
Identity (6) | |||||||
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 | WBPaper00003783 | ||||||
WBPaper00003903 | |||||||
WBPaper00004458 | |||||||
WBPaper00031861 | |||||||
WBPaper00034518 | |||||||
WBPaper00036275 | |||||||
WBPaper00038491 | |||||||
WBPaper00046585 | |||||||
WBPaper00049828 | |||||||
WBPaper00055090 | |||||||
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 |