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WormBase Tree Display for Gene: WBGene00004886

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Name Class

WBGene00004886SMapS_parentSequenceY39A3CR
IdentityVersion1
NameCGC_namesmi-1Person_evidenceWBPerson1430
Sequence_nameY39A3CR.1
Molecular_name (12)
Other_nameCELE_Y39A3CR.1Accession_evidenceNDBBX284603
Public_namesmi-1
DB_infoDatabase (11)
SpeciesCaenorhabditis elegans
HistoryVersion_change107 Apr 2004 11:29:36WBPerson1971EventImportedInitial conversion from geneace
StatusLive
Gene_info (8)
Disease_infoExperimental_modelDOID:12377Homo sapiensPaper_evidenceWBPaper00028478
Accession_evidenceOMIM253300
253400
253550
271150
Curator_confirmedWBPerson324
Date_last_updated28 Oct 2013 00:00:00
Disease_relevanceMutations in the human genes SMN1 and SMN2, which encode a RNA-binding protein, SMN, cause the inherited neuromuscular disorder, spinal muscular atrophy; this affects the control of muscle movement due to a loss of motor neurons in the spinal cord and the brainstem, leading to weakness and wasting (atrophy) of muscles; deletion of C. elegans smn-1/SMN, leads to several muscular defects (locomotive and pharyngeal pumping), and reduced lifespan; C. elegans has shown to be an effective genetic model to study SMN loss of functions defects; in mammals, SMN is tightly associated with SIP1/Gemin2; in C. elegans, the SMN and SIP orthologs, SMN-1 and SMI-1, interact and SMI-1 expression pattern and RNA interference phenotype show considerable overlap with those of smn-1; further, a yeast two-hybrid screen has identified several elegans smn-1 interacting proteins: F08F8.9c, K05C4.5, K07F5.1 (sequence similarity to proteins involved in RNA processing), F56D12.5a, RAN-2, ZK1320.7 (contain domains involved in RNA processing/metabolism, such as RNA-binding domains) and LET-418, MOG-4 (DEAD box helicase domains).Homo sapiensPaper_evidenceWBPaper00028478
Accession_evidenceOMIM253300
253550
253400
271150
600354
Curator_confirmedWBPerson324
Date_last_updated28 Oct 2013 00:00:00
Models_disease_in_annotationWBDOannot00000243
Molecular_infoCorresponding_CDSY39A3CR.1a
Y39A3CR.1b
Y39A3CR.1c
Y39A3CR.1d
Corresponding_CDS_historyY39A3CR.1:wp91
Y39A3CR.1b:wp278
Corresponding_transcriptY39A3CR.1a.1
Y39A3CR.1b.1
Y39A3CR.1c.1
Y39A3CR.1d.1
Other_sequenceMHC03264_1
CBC04805_1
MH01708
Associated_featureWBsf991410
WBsf1014321
WBsf224477
Experimental_infoRNAi_resultWBRNAi00103032Inferred_automaticallyRNAi_primary
WBRNAi00103033Inferred_automaticallyRNAi_primary
WBRNAi00020360Inferred_automaticallyRNAi_primary
Expr_patternExpr4282
Expr1027897
Expr1032425
Expr1159661
Expr2015918
Expr2034151
Drives_constructWBCnstr00011881
Construct_productWBCnstr00011881
Microarray_results (23)
Expression_cluster (56)
Interaction (23)
Map_infoMapIIIPosition-15.8236Error0.017184
PositivePositive_cloneY39A3CRInferred_automaticallyFrom CDS info
From sequence, transcript, pseudogene data
Pseudo_map_position
ReferenceWBPaper00028478
WBPaper00038491
WBPaper00055090
RemarkMap 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
MethodGene