WormBase Tree Display for Gene: WBGene00020930
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| WBGene00020930 | SMap | S_parent | Sequence | CHROMOSOME_IV | |||||
|---|---|---|---|---|---|---|---|---|---|
| Identity | Version | 2 | |||||||
| Name | CGC_name | hlh-30 | Person_evidence | WBPerson216 | |||||
| WBPerson1997 | |||||||||
| WBPerson346 | |||||||||
| Sequence_name | W02C12.3 | ||||||||
| Molecular_name (33) | |||||||||
| Other_name | CELE_W02C12.3 | Accession_evidence | NDB | BX284604 | |||||
| Public_name | hlh-30 | ||||||||
| DB_info | Database (11) | ||||||||
| Species | Caenorhabditis elegans | ||||||||
| History | Version_change | 1 | 28 May 2004 13:31:03 | WBPerson1971 | Event | Imported | Initial conversion from CDS class of stlace from WS125 | ||
| 2 | 16 Jun 2006 16:28:49 | WBPerson2970 | Name_change | CGC_name | hlh-30 | ||||
| Status | Live | ||||||||
| Gene_info | Biotype | SO:0001217 | |||||||
| Gene_class | hlh | ||||||||
| Allele (398) | |||||||||
| Strain | WBStrain00001702 | ||||||||
| WBStrain00002268 | |||||||||
| WBStrain00001379 | |||||||||
| WBStrain00002364 | |||||||||
| WBStrain00022468 | |||||||||
| WBStrain00051498 | |||||||||
| RNASeq_FPKM (74) | |||||||||
| GO_annotation (43) | |||||||||
| Ortholog (50) | |||||||||
| Structured_description | Concise_description | hlh-30 encodes a predicted basic helix-loop-helix (bHLH) transcription factor, one of 42 such genes in the C. elegans genome, it is spliced to give 18 different transcripts; it is orthologous to human microphthalmia-associated transcription factor (HGNC:MITF); loss of hlh-30 activity via RNAi results in reduced fat storage; HLH-30 demonstrates sequence-specific DNA binding for the E box sequence CACGTG and likely binds DNA as a homodimer; expression profiles of hlh-30 mutants indicate that, like its human ortholog, HLH-30 regulates expression of genes involved in metabolism; at least one of the bHLH protein isoforms appears to be important for an infection-specific immune response to M. nematophilum, though the overall induction of this gene following infection was not appreciable (1.3-fold). | Paper_evidence | WBPaper00005655 | |||||
| WBPaper00034761 | |||||||||
| WBPaper00027722 | |||||||||
| WBPaper00027046 | |||||||||
| Curator_confirmed | WBPerson324 | ||||||||
| Date_last_updated | 30 Nov 2009 00:00:00 | ||||||||
| Automated_description | Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in several processes, including defense response to bacterium; determination of adult lifespan; and positive regulation of metabolic process. Acts upstream of or within positive regulation of plasma membrane repair and positive regulation of xenophagy. Located in cytoplasm and nucleus. Expressed in several structures, including nerve ring; rectal valve cell; somatic cell; spermatheca; and vulva. Human ortholog(s) of this gene implicated in several diseases, including Tietz syndrome; Tietze's syndrome; and Waardenburg syndrome type 2A. Is an ortholog of human TFE3 (transcription factor binding to IGHM enhancer 3) and TFEC (transcription factor EC). | 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:4450 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:11752) | ||||
| DOID:14021 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:7105) | ||||||
| DOID:6846 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:7105) | ||||||
| DOID:0110950 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:7105) | ||||||
| DOID:1909 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:7105) | ||||||
| DOID:9258 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:7105) | ||||||
| DOID:0090002 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:7105) | ||||||
| Molecular_info | Corresponding_CDS | W02C12.3a | |||||||
| W02C12.3b | |||||||||
| W02C12.3c | |||||||||
| W02C12.3d | |||||||||
| W02C12.3e | |||||||||
| W02C12.3f | |||||||||
| W02C12.3g | |||||||||
| W02C12.3h | |||||||||
| W02C12.3i | |||||||||
| W02C12.3j | |||||||||
| Corresponding_transcript (13) | |||||||||
| Other_sequence (16) | |||||||||
| Associated_feature (50) | |||||||||
| Transcription_factor | WBTranscriptionFactor000085 | ||||||||
| Experimental_info | RNAi_result (28) | ||||||||
| Expr_pattern (18) | |||||||||
| Drives_construct (14) | |||||||||
| Construct_product | WBCnstr00016821 | ||||||||
| WBCnstr00016897 | |||||||||
| WBCnstr00018058 | |||||||||
| WBCnstr00018059 | |||||||||
| WBCnstr00018600 | |||||||||
| WBCnstr00022988 | |||||||||
| WBCnstr00024778 | |||||||||
| Regulate_expr_cluster | WBPaper00034761:hlh-30_downregulated | ||||||||
| WBPaper00034761:hlh-30_upregulated | |||||||||
| WBPaper00045314:S.aureus-induced_hlh-30(tm1978) | |||||||||
| WBPaper00050468:hlh-30-dependent_Cry5B_regulated | |||||||||
| WBPaper00065993:hlh-30(RNAi)-neuron_downregulated | |||||||||
| WBPaper00065993:hlh-30(RNAi)-neuron_upregulated | |||||||||
| Microarray_results (63) | |||||||||
| Expression_cluster (171) | |||||||||
| Interaction (63) | |||||||||
| Map_info | Map | IV | Position | -1.01381 | Error | 0.019046 | |||
| Positive | Positive_clone | W02C12 | Inferred_automatically | From sequence, transcript, pseudogene data | |||||
| Pseudo_map_position | |||||||||
| Reference (102) | |||||||||
| 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 |
