WormBase Tree Display for Gene: WBGene00010780
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| WBGene00010780 | SMap | S_parent | Sequence | K11H3 | |||||
|---|---|---|---|---|---|---|---|---|---|
| Identity | Version | 1 | |||||||
| Name | Sequence_name | K11H3.3 | |||||||
| Molecular_name | K11H3.3 | ||||||||
| K11H3.3.1 | |||||||||
| CE00474 | |||||||||
| Other_name | CELE_K11H3.3 | Accession_evidence | NDB | BX284603 | |||||
| Public_name | K11H3.3 | ||||||||
| DB_info | Database (11) | ||||||||
| Species | Caenorhabditis elegans | ||||||||
| History | Version_change | 1 | 26 May 2004 16:54:51 | WBPerson1971 | Event | Imported | Initial conversion from CDS class of WS125 | ||
| Status | Live | ||||||||
| Gene_info | Biotype | SO:0001217 | |||||||
| Allele (27) | |||||||||
| RNASeq_FPKM (74) | |||||||||
| GO_annotation | 00042763 | ||||||||
| 00042764 | |||||||||
| 00042765 | |||||||||
| 00042766 | |||||||||
| 00042767 | |||||||||
| 00042768 | |||||||||
| 00042769 | |||||||||
| Ortholog (42) | |||||||||
| Paralog (35) | |||||||||
| Structured_description | Automated_description | Predicted to enable citrate secondary active transmembrane transporter activity. Predicted to be involved in mitochondrial citrate transmembrane transport. Predicted to be located in mitochondrion. Used to study chromosome 22q11.2 deletion syndrome, distal. Human ortholog(s) of this gene implicated in combined D-2- and L-2-hydroxyglutaric aciduria and congenital myasthenic syndrome. Is an ortholog of human SLC25A1 (solute carrier family 25 member 1). | 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:0060413 | Homo sapiens | Paper_evidence | WBPaper00047004 | ||||
| Curator_confirmed | WBPerson324 | ||||||||
| Date_last_updated | 20 Sep 2018 00:00:00 | ||||||||
| Potential_model | DOID:0111619 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:10979) | |||||
| DOID:3635 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:10979) | ||||||
| DOID:0050573 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:10979) | ||||||
| Disease_relevance | 22q11.2 deletion syndrome (22q11.2DS) is the most common human deletion syndrome caused by deletion of a small piece of chromosome 22, characterized by neurodevelopmental defects, schizophrenia, congenital cardiac and craniofacial abnormalites (includes DiGeorge Syndrome and velocardiofacial syndrome); the 22q11.2 deletion overlaps several protein-coding genes including SLC25A1 (solute carrier family 25, mitochondrial carrier, citrate transporter); C. elegans K11H3.3 encodes a putative ortholog of human SLC25A1, providing a potential model system to study 22q11.2DS. | Homo sapiens | Paper_evidence | WBPaper00047004 | |||||
| Accession_evidence | OMIM | 615182 | |||||||
| 611867 | |||||||||
| 190315 | |||||||||
| Curator_confirmed | WBPerson324 | ||||||||
| Date_last_updated | 15 Sep 2015 00:00:00 | ||||||||
| Models_disease_in_annotation | WBDOannot00000364 | ||||||||
| Molecular_info | Corresponding_CDS | K11H3.3 | |||||||
| Corresponding_transcript | K11H3.3.1 | ||||||||
| Other_sequence (94) | |||||||||
| Associated_feature | WBsf659457 | ||||||||
| WBsf717098 | |||||||||
| WBsf993821 | |||||||||
| WBsf993822 | |||||||||
| WBsf1015679 | |||||||||
| WBsf225642 | |||||||||
| Experimental_info | RNAi_result | WBRNAi00034304 | Inferred_automatically | RNAi_primary | |||||
| WBRNAi00050636 | Inferred_automatically | RNAi_primary | |||||||
| WBRNAi00007012 | Inferred_automatically | RNAi_primary | |||||||
| WBRNAi00017040 | Inferred_automatically | RNAi_primary | |||||||
| WBRNAi00050635 | Inferred_automatically | RNAi_primary | |||||||
| Expr_pattern | Expr1024174 | ||||||||
| Expr1034719 | |||||||||
| Expr1154343 | |||||||||
| Expr2005083 | |||||||||
| Expr2023303 | |||||||||
| Drives_construct | WBCnstr00031152 | ||||||||
| Construct_product | WBCnstr00031152 | ||||||||
| Microarray_results (19) | |||||||||
| Expression_cluster (141) | |||||||||
| Interaction (36) | |||||||||
| Map_info | Positive | Positive_clone | K11H3 | Inferred_automatically | From sequence, transcript, pseudogene data | ||||
| Interpolated_map_position | III | 1.12627 | |||||||
| Reference | WBPaper00038491 | ||||||||
| WBPaper00041771 | |||||||||
| WBPaper00049828 | |||||||||
| WBPaper00055090 | |||||||||
| WBPaper00064071 | |||||||||
| Method | Gene |
