WormBase Tree Display for Gene: WBGene00044738
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| WBGene00044738 | SMap | S_parent | Sequence | C50E3 | |||||
|---|---|---|---|---|---|---|---|---|---|
| Identity | Version | 2 | |||||||
| Name | CGC_name | folt-3 | |||||||
| Sequence_name | C50E3.16 | ||||||||
| Molecular_name | C50E3.16 | ||||||||
| C50E3.16.1 | |||||||||
| CE45273 | |||||||||
| Other_name | CELE_C50E3.16 | Accession_evidence | NDB | BX284605 | |||||
| Public_name | folt-3 | ||||||||
| DB_info | Database | WormFlux | gene | WBGene00044738 | |||||
| OMIM | disease | 249270 | |||||||
| 603941 | |||||||||
| 607483 | |||||||||
| gene | 600424 | ||||||||
| 606152 | |||||||||
| NDB | locus_tag | CELE_C50E3.16 | |||||||
| Panther | gene | CAEEL|WormBase=WBGene00044738|UniProtKB=Q22931 | |||||||
| family | PTHR10686 | ||||||||
| NCBI | gene | 4363081 | |||||||
| RefSeq | protein | NM_001047632.4 | |||||||
| SwissProt | UniProtAcc | Q22931 | |||||||
| TREEFAM | TREEFAM_ID | TF313684 | |||||||
| UniProt_GCRP | UniProtAcc | Q22931 | |||||||
| Species | Caenorhabditis elegans | ||||||||
| History | Version_change | 1 | 02 Feb 2006 08:51:41 | WBPerson1849 | Event | Created | |||
| 2 | 30 Jul 2007 15:53:43 | WBPerson2970 | Name_change | CGC_name | folt-3 | ||||
| Status | Live | ||||||||
| Gene_info | Biotype | SO:0001217 | |||||||
| Gene_class | folt | ||||||||
| Allele (214) | |||||||||
| RNASeq_FPKM (74) | |||||||||
| GO_annotation | 00076751 | ||||||||
| 00076752 | |||||||||
| 00076753 | |||||||||
| 00076754 | |||||||||
| 00076755 | |||||||||
| 00076756 | |||||||||
| 00076757 | |||||||||
| 00146125 | |||||||||
| 00146126 | |||||||||
| 00146127 | |||||||||
| Ortholog (43) | |||||||||
| Paralog | WBGene00007388 | Caenorhabditis elegans | From_analysis | TreeFam | |||||
| Panther | |||||||||
| WormBase-Compara | |||||||||
| WBGene00018138 | Caenorhabditis elegans | From_analysis | TreeFam | ||||||
| Inparanoid_8 | |||||||||
| Panther | |||||||||
| WormBase-Compara | |||||||||
| Structured_description | Concise_description | folt-3 encodes a putative folate transporter; FOLT-3 is orthologous to the human folate transporters SLC19A1, SLC19A2, and SLC19A3 (Solute Carrier Family 19 (thiamine transporter), Member 1, 2 or 3); FOLT-3 does not seem to have any obvious function, perhaps because of genetic redundancy with its paralogs FOLT-1 and FOLT-2. | Paper_evidence | WBPaper00029344 | |||||
| Curator_confirmed | WBPerson324 | ||||||||
| WBPerson567 | |||||||||
| Date_last_updated | 22 May 2012 00:00:00 | ||||||||
| Automated_description | Predicted to enable folic acid binding activity and vitamin transmembrane transporter activity. Predicted to be involved in transmembrane transport. Predicted to be located in plasma membrane. Human ortholog(s) of this gene implicated in biotin-responsive basal ganglia disease. Is an ortholog of human SLC19A3 (solute carrier family 19 member 3). | 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 | Potential_model | DOID:0050659 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:16266) | ||||
| Disease_relevance | C. elegans FOLT-1 is orthologous to the human folate transporters SLC19A1, SLC19A2 and SLC19A3; mutations in the human SLC19A3 folate transporter have been associated with Thiamine metabolism dysfunction syndrome, or Biotin-thiamine-responsive basal ganglia disease, a disorder that affects the nervous system, characterized by movement disorders that include involuntary tensing of various muscles (dystonia), muscle rigidity, muscle weakness, problems coordinating movements (ataxia), and exaggerated reflexes (hyperreflexia); mutations in SLC19A2 have been associated with Thiamine-responsive megaloblastic anemia syndrome, a rare condition characterized by hearing loss, diabetes, and a blood disorder called megaloblastic anemia which occurs when a person has a low number of red blood cells (anemia), and the remaining red blood cells are larger than normal (megaloblastic); as in other species, studies in elegans show that the elegans gene folt-1 is required for fertility, specifically for proper germline formation, proper oogenesis, normal male sperm numbers and normal life-span; folt-2 and folt-3 in elegans, do not seem to have any obvious function, perhaps because of genetic redundancy with FOLT-1. | Homo sapiens | Paper_evidence | WBPaper00029344 | |||||
| WBPaper00036214 | |||||||||
| Accession_evidence | OMIM | 603941 | |||||||
| 249270 | |||||||||
| 607483 | |||||||||
| 600424 | |||||||||
| 606152 | |||||||||
| Curator_confirmed | WBPerson324 | ||||||||
| Date_last_updated | 22 May 2012 00:00:00 | ||||||||
| Molecular_info | Corresponding_CDS | C50E3.16 | |||||||
| Corresponding_CDS_history | C50E3.16:wp217 | ||||||||
| Corresponding_transcript | C50E3.16.1 | ||||||||
| Other_sequence | Dviv_isotig18606 | ||||||||
| Experimental_info | RNAi_result | WBRNAi00042911 | Inferred_automatically | RNAi_primary | |||||
| Expr_pattern | Expr1014219 | ||||||||
| Expr1146886 | |||||||||
| Expr2011871 | |||||||||
| Expr2030109 | |||||||||
| Microarray_results (16) | |||||||||
| Expression_cluster (63) | |||||||||
| Map_info | Map | V | Position | 0.817009 | |||||
| Positive | Positive_clone | C50E3 | Inferred_automatically | From sequence, transcript, pseudogene data | |||||
| Pseudo_map_position | |||||||||
| Reference | WBPaper00038491 | ||||||||
| WBPaper00055090 | |||||||||
| WBPaper00065288 | |||||||||
| 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 | |||||||
| [171016 pad] Modified Map position as it was a reverse physical that could not be fixed by automated methods. (0.817009) | |||||||||
| Method | Gene |
