WormBase Tree Display for Gene: WBGene00008132
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| WBGene00008132 | SMap | S_parent | Sequence | C47B2 | |||||
|---|---|---|---|---|---|---|---|---|---|
| Identity | Version | 2 | |||||||
| Name | CGC_name | gale-1 | Person_evidence | WBPerson2629 | |||||
| WBPerson1805 | |||||||||
| Sequence_name | C47B2.6 | ||||||||
| Molecular_name | C47B2.6a | ||||||||
| C47B2.6a.1 | |||||||||
| CE17566 | |||||||||
| C47B2.6b | |||||||||
| CE38295 | |||||||||
| C47B2.6a.2 | |||||||||
| C47B2.6b.1 | |||||||||
| C47B2.6b.2 | |||||||||
| Other_name | CELE_C47B2.6 | Accession_evidence | NDB | BX284601 | |||||
| Public_name | gale-1 | ||||||||
| DB_info | Database (12) | ||||||||
| Species | Caenorhabditis elegans | ||||||||
| History | Version_change | 1 | 26 May 2004 16:54:48 | WBPerson1971 | Event | Imported | Initial conversion from CDS class of WS125 | ||
| 2 | 02 Feb 2007 17:11:41 | WBPerson2970 | Name_change | CGC_name | gale-1 | ||||
| Status | Live | ||||||||
| Gene_info | Biotype | SO:0001217 | |||||||
| Gene_class | gale | ||||||||
| Allele (158) | |||||||||
| Strain | WBStrain00002441 | ||||||||
| WBStrain00001620 | |||||||||
| RNASeq_FPKM (74) | |||||||||
| GO_annotation (29) | |||||||||
| Contained_in_operon | CEOP1786 | ||||||||
| Ortholog (38) | |||||||||
| Paralog (13) | |||||||||
| Structured_description | Concise_description | gale-1 encodes a putative UDP-galactose-4-epimerase, orthologous tohuman GALE (OMIM:606953, mutated in galactose epimerase deficiency);GALE-1 is thought to interconvert UDP-N-acetylglucosamine andUDP-N-acetylgalactosamine at the end of the hexosamine pathway; gale-1is expressed in neurons, intestine and the developing reproductivesystem, but has no observed function in mass RNAi assays. | Paper_evidence | WBPaper00006525 | |||||
| WBPaper00028588 | |||||||||
| Curator_confirmed | WBPerson1823 | ||||||||
| WBPerson567 | |||||||||
| Date_last_updated | 07 Apr 2007 00:00:00 | ||||||||
| Automated_description | Enables UDP-N-acetylglucosamine 4-epimerase activity and UDP-glucose 4-epimerase activity. Involved in several processes, including gonad morphogenesis; negative regulation of endoplasmic reticulum unfolded protein response; and positive regulation of vulval development. Predicted to be located in cytosol. Expressed in head. Used to study galactosemia. Human ortholog(s) of this gene implicated in galactose epimerase deficiency. Is an ortholog of human GALE (UDP-galactose-4-epimerase). | 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:9870 | Homo sapiens | Paper_evidence | WBPaper00045849 | ||||
| Accession_evidence | OMIM | 230350 | |||||||
| Curator_confirmed | WBPerson324 | ||||||||
| Date_last_updated | 03 Oct 2018 00:00:00 | ||||||||
| Potential_model | DOID:0111458 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:4116) | |||||
| Disease_relevance | Mutations in human GALE (UDP-galactose-4-prime-epimerase) are implicated in the autosomal recessive disorder, type III galactosemia; GALE participates in the galactose metabolism pathway, catalyzing the interconversion of UDP-galactose (UDP-gal) and UDP-glucose (UDP-glc) and in some species, including humans, also the interconversion of UDP-N-acetylgalactosamine (UDP-galNAc) and UDP-N-acetylglucosamine (UDP-glcNAc; one of the symptoms of galactosemia is intolerance to a galactose-rich diet, attributed to the accumulation of toxic galactose metabolism intermediates | Homo sapiens | Paper_evidence | WBPaper00045849 | |||||
| Accession_evidence | OMIM | 606953 | |||||||
| Curator_confirmed | WBPerson324 | ||||||||
| Models_disease_in_annotation | WBDOannot00000322 | ||||||||
| Molecular_info | Corresponding_CDS | C47B2.6a | |||||||
| C47B2.6b | |||||||||
| Corresponding_transcript | C47B2.6a.1 | ||||||||
| C47B2.6a.2 | |||||||||
| C47B2.6b.1 | |||||||||
| C47B2.6b.2 | |||||||||
| Other_sequence (191) | |||||||||
| Associated_feature | WBsf657001 | ||||||||
| WBsf657002 | |||||||||
| WBsf218666 | |||||||||
| WBsf218667 | |||||||||
| WBsf218668 | |||||||||
| WBsf218669 | |||||||||
| Experimental_info | RNAi_result | WBRNAi00042653 | Inferred_automatically | RNAi_primary | |||||
| WBRNAi00003176 | Inferred_automatically | RNAi_primary | |||||||
| WBRNAi00029897 | Inferred_automatically | RNAi_primary | |||||||
| Expr_pattern | Expr5525 | ||||||||
| Expr5526 | |||||||||
| Expr1017938 | |||||||||
| Expr1033529 | |||||||||
| Expr1146641 | |||||||||
| Expr2011938 | |||||||||
| Expr2030175 | |||||||||
| Drives_construct | WBCnstr00002459 | ||||||||
| WBCnstr00004348 | |||||||||
| Construct_product | WBCnstr00019730 | ||||||||
| Microarray_results (25) | |||||||||
| Expression_cluster (209) | |||||||||
| Interaction (62) | |||||||||
| WBProcess | WBbiopr:00000046 | ||||||||
| Map_info | Map | I | Position | 16.8109 | Error | 0.002729 | |||
| Positive | Positive_clone | C47B2 | Inferred_automatically | From sequence, transcript, pseudogene data | |||||
| Pseudo_map_position | |||||||||
| Reference | WBPaper00027024 | ||||||||
| WBPaper00028564 | |||||||||
| WBPaper00029024 | |||||||||
| WBPaper00036792 | |||||||||
| WBPaper00038491 | |||||||||
| WBPaper00045849 | |||||||||
| WBPaper00055090 | |||||||||
| WBPaper00062922 | |||||||||
| WBPaper00064651 | |||||||||
| 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 |
