WormBase Tree Display for Gene: WBGene00022463
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| WBGene00022463 | SMap | S_parent | Sequence | Y110A7A | |||||
|---|---|---|---|---|---|---|---|---|---|
| Identity | Version | 2 | |||||||
| Name | CGC_name | elpc-1 | Person_evidence | WBPerson4055 | |||||
| Sequence_name | Y110A7A.16 | ||||||||
| Molecular_name | Y110A7A.16 | ||||||||
| Y110A7A.16.1 | |||||||||
| CE53984 | |||||||||
| Other_name | CELE_Y110A7A.16 | Accession_evidence | NDB | BX284601 | |||||
| Public_name | elpc-1 | ||||||||
| DB_info | Database (11) | ||||||||
| Species | Caenorhabditis elegans | ||||||||
| History | Version_change | 1 | 28 May 2004 13:31:05 | WBPerson1971 | Event | Imported | Initial conversion from CDS class of stlace from WS125 | ||
| 2 | 08 Oct 2007 16:51:06 | WBPerson2970 | Name_change | CGC_name | elpc-1 | ||||
| Status | Live | ||||||||
| Gene_info | Biotype | SO:0001217 | |||||||
| Gene_class | elpc | ||||||||
| Allele (52) | |||||||||
| RNASeq_FPKM (74) | |||||||||
| GO_annotation (23) | |||||||||
| Ortholog (39) | |||||||||
| Structured_description | Automated_description | Predicted to enable tRNA binding activity. Involved in several processes, including gamete generation; gene expression; and olfactory learning. Located in cytoplasm; neuron projection; and neuronal cell body. Expressed in CAN; HSN; pharynx; sensory neurons; and vulva. Used to study Riley-Day syndrome. Human ortholog(s) of this gene implicated in several diseases, including Riley-Day syndrome; bone structure disease (multiple); and medulloblastoma. Is an ortholog of human ELP1 (elongator acetyltransferase complex subunit 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:11589 | Homo sapiens | Paper_evidence | WBPaper00034713 | ||||
| Accession_evidence | OMIM | 223900 | |||||||
| Curator_confirmed | WBPerson324 | ||||||||
| Date_last_updated | 26 Oct 2018 00:00:00 | ||||||||
| Potential_model | DOID:0060249 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:5959) | |||||
| DOID:4667 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:5959) | ||||||
| DOID:2841 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:5959) | ||||||
| DOID:11589 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:5959) | ||||||
| DOID:0050902 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:5959) | ||||||
| Disease_relevance | Human IKBKAP (Inhibitor of kappa light polypeptide gene enhancer in B cells, kinase-complex-associated protein) is a highly conserved transcription elongation factor complex component (Elongator complex); mutations in IKBKAP result in a neurodegenerative disorder called Familial dysautonomia (FD), also called Riley-Day syndrome, which affects the development and survival of sensory, sympathetic and parasympathetic neurons; C. elegans serves as a model system to study the molecular function of IKBKAP, through the worm orthologs elpc-1 and elpc-3; similar to the yeast proteins ELP1 and ELP3, elegans elpc-1 and elpc-3 are involved in modification of wobble uridines in tRNA modification, a process required for translation of certain proteins; worms with mutations in elpc-1 or elpc-3 show a defect in a salt learning assay, and are associated with reduced expression of a neuropeptide and slow accumulation of acetylcholine in the synaptic cleft; elpc-1 and elpc-3 are also involved in embryogenesis and other developmental processes in elegans. | Homo sapiens | Paper_evidence | WBPaper00034713 | |||||
| Accession_evidence | OMIM | 223900 | |||||||
| 603722 | |||||||||
| Curator_confirmed | WBPerson324 | ||||||||
| Date_last_updated | 11 Dec 2013 00:00:00 | ||||||||
| Models_disease_asserted | WBDOannot00000254 | ||||||||
| Molecular_info | Corresponding_CDS | Y110A7A.16 | |||||||
| Corresponding_CDS_history | Y110A7A.16:wp274 | ||||||||
| Corresponding_transcript | Y110A7A.16.1 | ||||||||
| Other_sequence (13) | |||||||||
| Associated_feature | WBsf649142 | ||||||||
| WBsf664202 | |||||||||
| WBsf219373 | |||||||||
| Experimental_info | RNAi_result | WBRNAi00004522 | Inferred_automatically | RNAi_primary | |||||
| WBRNAi00116468 | Inferred_automatically | RNAi_primary | |||||||
| WBRNAi00055317 | Inferred_automatically | RNAi_primary | |||||||
| Expr_pattern | Expr8656 | ||||||||
| Expr12560 | |||||||||
| Expr12836 | |||||||||
| Expr1012801 | |||||||||
| Expr1039926 | |||||||||
| Expr1158857 | |||||||||
| Expr2011288 | |||||||||
| Expr2029524 | |||||||||
| Drives_construct | WBCnstr00005710 | ||||||||
| WBCnstr00013424 | |||||||||
| WBCnstr00024221 | |||||||||
| Construct_product | WBCnstr00005710 | ||||||||
| WBCnstr00013424 | |||||||||
| WBCnstr00023021 | |||||||||
| WBCnstr00024221 | |||||||||
| Antibody | WBAntibody00002117 | ||||||||
| Microarray_results (18) | |||||||||
| Expression_cluster (111) | |||||||||
| Interaction (79) | |||||||||
| Map_info | Map | I | Position | -0.401947 | Error | 0.002233 | |||
| Positive | Positive_clone | Y110A7A | Inferred_automatically | From sequence, transcript, pseudogene data | |||||
| Pseudo_map_position | |||||||||
| Reference | WBPaper00034713 | ||||||||
| WBPaper00036232 | |||||||||
| WBPaper00036720 | |||||||||
| WBPaper00036721 | |||||||||
| WBPaper00038491 | |||||||||
| WBPaper00040395 | |||||||||
| WBPaper00055090 | |||||||||
| WBPaper00060622 | |||||||||
| WBPaper00064339 | |||||||||
| 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 |
