WormBase Tree Display for Gene: WBGene00004259
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| WBGene00004259 | Evidence | Person_evidence | WBPerson460 | ||||||
|---|---|---|---|---|---|---|---|---|---|
| SMap | S_parent | Sequence | D2085 | ||||||
| Identity | Version | 1 | |||||||
| Name | CGC_name | pyr-1 | Person_evidence | WBPerson460 | |||||
| Sequence_name | D2085.1 | ||||||||
| Molecular_name | D2085.1 | ||||||||
| D2085.1.1 | |||||||||
| CE41886 | |||||||||
| Other_name | CELE_D2085.1 | Accession_evidence | NDB | BX284602 | |||||
| Public_name | pyr-1 | ||||||||
| DB_info | Database (13) | ||||||||
| Species | Caenorhabditis elegans | ||||||||
| History | Version_change | 1 | 07 Apr 2004 11:29:34 | WBPerson1971 | Event | Imported | Initial conversion from geneace | ||
| Status | Live | ||||||||
| Gene_info | Biotype | SO:0001217 | |||||||
| Gene_class | pyr | ||||||||
| Allele (96) | |||||||||
| Strain | WBStrain00029944 | ||||||||
| WBStrain00029948 | |||||||||
| WBStrain00036893 | |||||||||
| RNASeq_FPKM (74) | |||||||||
| GO_annotation (47) | |||||||||
| Contained_in_operon | CEOP2740 | ||||||||
| CEOP2376 | |||||||||
| Ortholog (34) | |||||||||
| Structured_description | Concise_description | pyr-1 encodes the C. elegans protein CAD which is orthologous to the human gene Carbamyl phosphate synthetase I (CPS1); pyr-1 encodes a single protein with predicted carbamoyl phosphate synthetase, aspartate transcarbamoylase, and dihydroorotase activities (CAD), which is involved in pyrimidine biosynthesis; pyr-1 mutants can be rescued by the supply of exogenous pyrimidines; genetic interaction studies indicate that pyr-1 may function upstream of sqv-1, sqv-2, rib-1 and rib-2, genes involved in heparan sulphate proteoglycan biosynthesis, by providing pyrimidine for nucleotide sugars essential for the synthesis of heparan sulphate proteoglycan; pyr-1 is essential for viability and for proper morphogenesis of the pharynx, indicating that proteoglycan synthesis is essential for pharyngeal organogenesis. | Paper_evidence | WBPaper00004637 | |||||
| WBPaper00031153 | |||||||||
| Curator_confirmed | WBPerson324 | ||||||||
| WBPerson1823 | |||||||||
| WBPerson567 | |||||||||
| Date_last_updated | 28 Feb 2011 00:00:00 | ||||||||
| Automated_description | Predicted to enable aspartate carbamoyltransferase activity and dihydroorotase activity. Predicted to contribute to carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity. Involved in several processes, including pharyngeal gland morphogenesis; pharynx development; and pyrimidine nucleobase biosynthetic process. Predicted to be located in cytosol. Expressed in intestine. Used to study carbamoyl phosphate synthetase I deficiency disease and orotic aciduria. Human ortholog(s) of this gene implicated in developmental and epileptic encephalopathy 50. Is an ortholog of human CAD (carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase). | 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:9280 | Homo sapiens | Paper_evidence | WBPaper00035924 | ||||
| Accession_evidence | OMIM | 237300 | |||||||
| Curator_confirmed | WBPerson324 | ||||||||
| Date_last_updated | 03 Oct 2018 00:00:00 | ||||||||
| DOID:0050833 | Homo sapiens | Paper_evidence | WBPaper00035924 | ||||||
| Curator_confirmed | WBPerson324 | ||||||||
| Date_last_updated | 26 Feb 2014 00:00:00 | ||||||||
| Potential_model | DOID:0080419 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:1424) | |||||
| Disease_relevance | Human Carbamoylphosphate synthetase (CPS1), a mitochondrial isozyme, acts in the urea cycle to generate carbomoyl phosphate, for the end-production of urea; CPS1 when mutated, causes hyperammonemia (Carbamoylphosphate synthetase I deficiency), an autosomal recessive metabolic disease, leading to the accumulation of toxic ammonia in the body leading to neurological problems; CPS1 is also associated with increased risk of pulmonary hypertension in newborns; C. elegans pyr-1/CPS1/CAD is required for morphogenesis of the pharynx, which requires both de novo synthesis of pyrimidines and synthesis of heparan sulfate proteoglycans (HSPG); pyr-1 functions in de novo pyrimidine synthesis and functions upstream of proteoglycan synthesizing enzymes by providing precursors of UDP-sugars essential for HSPG. | Homo sapiens | Paper_evidence | WBPaper00031153 | |||||
| WBPaper00035924 | |||||||||
| Accession_evidence | OMIM | 237300 | |||||||
| 615371 | |||||||||
| 608307 | |||||||||
| Curator_confirmed | WBPerson324 | ||||||||
| Date_last_updated | 21 Feb 2014 00:00:00 | ||||||||
| Models_disease_in_annotation | WBDOannot00000274 | ||||||||
| Models_disease_asserted | WBDOannot00000316 | ||||||||
| Molecular_info | Corresponding_CDS | D2085.1 | |||||||
| Corresponding_transcript | D2085.1.1 | ||||||||
| Other_sequence (72) | |||||||||
| Associated_feature (12) | |||||||||
| Experimental_info | RNAi_result (15) | ||||||||
| Expr_pattern | Expr7805 | ||||||||
| Expr1013513 | |||||||||
| Expr1032102 | |||||||||
| Expr1147495 | |||||||||
| Expr2015206 | |||||||||
| Expr2033440 | |||||||||
| Drives_construct | WBCnstr00012938 | ||||||||
| WBCnstr00035604 | |||||||||
| Construct_product | WBCnstr00012938 | ||||||||
| WBCnstr00035604 | |||||||||
| Microarray_results (21) | |||||||||
| Expression_cluster (226) | |||||||||
| Interaction (254) | |||||||||
| Map_info | Map | II | Position | 0.833913 | Error | 0.001725 | |||
| Positive | Positive_clone | D2085 | Inferred_automatically | From CDS info | |||||
| From sequence, transcript, pseudogene data | |||||||||
| Mapping_data | Pos_neg_data | 10785 | |||||||
| 10786 | |||||||||
| 10787 | |||||||||
| 10788 | |||||||||
| 10789 | |||||||||
| 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 |
