WormBase Tree Display for Gene: WBGene00001948
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WBGene00001948 | SMap | S_parent | Sequence | B0304 | |||||
---|---|---|---|---|---|---|---|---|---|
Identity | Version | 1 | |||||||
Name | CGC_name | hlh-1 | Person_evidence | WBPerson346 | |||||
Sequence_name | B0304.1 | ||||||||
Molecular_name | B0304.1a | ||||||||
B0304.1a.1 | |||||||||
CE31766 | |||||||||
B0304.1b | |||||||||
CE02423 | |||||||||
B0304.1c | |||||||||
CE30067 | |||||||||
B0304.1a.2 | |||||||||
B0304.1b.1 | |||||||||
B0304.1c.1 | |||||||||
Other_name | MyoD1 | ||||||||
CELE_B0304.1 | Accession_evidence | NDB | BX284602 | ||||||
Public_name | hlh-1 | ||||||||
DB_info | Database (11) | ||||||||
Species | Caenorhabditis elegans | ||||||||
History | Version_change | 1 | 07 Apr 2004 11:29:26 | WBPerson1971 | Event | Imported | Initial conversion from geneace | ||
Status | Live | ||||||||
Gene_info | Biotype | SO:0001217 | |||||||
Gene_class | hlh | ||||||||
Allele (69) | |||||||||
Legacy_information | [C.elegansII] cc450am : recessive lethal, arrest at varying stages as lumpy dumpy with some muscle differentiation, disorganized myofilaments. Encodes member of MyoD family. Transcripts present transiently in MS descendants, stably in D daughters and C and MS lineages leading to body wall muscle. Antibody staining similar (nuclear staining, persists through development of body wall muscle cells). [Krause et al. 1990, 1994; Chen et al. 1992; KM; PD] | ||||||||
Strain (11) | |||||||||
RNASeq_FPKM (74) | |||||||||
GO_annotation (26) | |||||||||
Ortholog (43) | |||||||||
Structured_description | Concise_description | hlh-1 encodes a basic helix-loop-helix (bHLH) transcription factor that is the C. elegans ortholog of the myogenic regulatory factor (MRF) subgroup of bHLH proteins; in C. elegans, HLH-1 activity is required during embryogenesis for proper bodywall muscle development and function, but not for bodywall muscle cell fate specification, per se: hlh-1 null mutants generate the normal number of bodywall muscle cells, but the arrangement of these cells is disrupted and mutant animals exhibit weak and disorganized muscle contractions; however, ectopic expression of HLH-1 in the embryo is sufficient to convert nearly all embryonic cell types to a bodywall muscle-like fate; in regulating bodywall myogenesis, genetic studies indicate that HLH-1 acts together with the UNC-120/SRF and HND-1/HAND transcription factors, both of which can also induce muscle-like fates when overexpressed in embryos; hlh-1 expression is positively regulated by the PAL-1 homeodomain protein which binds an hlh-1 enhancer element and is required for specification of the C and D founder cell fates; HLH-1 is also able to bind enhancer elements in its upstream region, thus positively regulating its own expression; HLH-1 is expressed in nuclei and first appears in bodywall muscle precursors beginning at the ~80-cell stage of embryogenesis; expression then continues in these cells and their differentiated descendants throughout embryonic, larval, and adult stages of development. | Paper_evidence | WBPaper00001358 | |||||
WBPaper00001527 | |||||||||
WBPaper00001975 | |||||||||
WBPaper00002073 | |||||||||
WBPaper00025033 | |||||||||
WBPaper00028867 | |||||||||
WBPaper00032967 | |||||||||
Curator_confirmed | WBPerson1843 | ||||||||
WBPerson1823 | |||||||||
WBPerson567 | |||||||||
Date_last_updated | 27 Apr 2009 00:00:00 | ||||||||
Automated_description | Enables DNA-binding transcription factor activity, RNA polymerase II-specific; RNA polymerase II transcription regulatory region sequence-specific DNA binding activity; and protein homodimerization activity. Involved in positive regulation of mesodermal cell fate specification; positive regulation of transcription by RNA polymerase II; and striated muscle cell differentiation. Acts upstream of or within positive regulation of muscle cell differentiation. Located in nucleus. Expressed in several structures, including C lineage cell; D lineage cell; I4 neuron; MSaaaapa; and body wall muscle cell. Used to study Duchenne muscular dystrophy. Human ortholog(s) of this gene implicated in congenital myopathy 17 and congenital structural myopathy. Is an ortholog of several human genes including MYF5 (myogenic factor 5); MYF6 (myogenic factor 6); and MYOD1 (myogenic differentiation 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:11723 | |||||||
Potential_model | DOID:0081349 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:7611) | |||||
DOID:422 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:7566) | ||||||
Models_disease_asserted (12) | |||||||||
Molecular_info | Corresponding_CDS | B0304.1a | |||||||
B0304.1b | |||||||||
B0304.1c | |||||||||
Corresponding_transcript | B0304.1a.1 | ||||||||
B0304.1a.2 | |||||||||
B0304.1b.1 | |||||||||
B0304.1c.1 | |||||||||
Other_sequence | JI170711.1 | ||||||||
AE00007 | |||||||||
Oden_isotig13024 | |||||||||
Oden_isotig13023 | |||||||||
AE00009 | |||||||||
Oden_isotig13022 | |||||||||
AYC04018_1 | |||||||||
Acan_isotig15577 | |||||||||
Dviv_isotig27120 | |||||||||
Associated_feature (15) | |||||||||
Gene_product_binds (1733) | |||||||||
Transcription_factor | WBTranscriptionFactor000062 | ||||||||
Experimental_info | RNAi_result (46) | ||||||||
Expr_pattern (28) | |||||||||
Drives_construct (25) | |||||||||
Construct_product (15) | |||||||||
Regulate_expr_cluster | WBPaper00028867:HLH-1_induced_TF | ||||||||
WBPaper00041222:hlh-1(cc561)_downregulated | |||||||||
WBPaper00041222:hlh-1(cc561)_upregulated | |||||||||
Antibody | WBAntibody00000048 | ||||||||
WBAntibody00001886 | |||||||||
Microarray_results (29) | |||||||||
Expression_cluster (127) | |||||||||
Interaction (160) | |||||||||
WBProcess | WBbiopr:00000040 | ||||||||
Map_info | Map | II | Position | -4.10737 | Error | 0.029864 | |||
Well_ordered | |||||||||
Positive | Positive_clone | B0304 | Inferred_automatically | From sequence, transcript, pseudogene data | |||||
KM#125.2 | |||||||||
Mapping_data | Multi_point | 4032 | |||||||
4033 | |||||||||
Pos_neg_data (15) | |||||||||
Reference (175) | |||||||||
Method | Gene |