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ZIRC
ZFIN ID: ZDB-GENE-030131-9111
Gene Name: TSC complex subunit 1a
Gene Symbol: tsc1a    Nomenclature History

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Previous Names: fa99f04, wu:fa99f04, zgc:63657

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(Including Attributions)
Gene Type: protein_coding_gene
Location: Chr: 5 Mapping Details/Browsers
Description: Involved in several processes, including cilium assembly; pronephros development; and regulation of TOR signaling. Localizes to the Golgi apparatus. Human ortholog(s) of this gene implicated in intellectual disability; lymphangioleiomyomatosis; tuberous sclerosis; and tuberous sclerosis 1. Is expressed in notochord; polster; pronephric duct; and somite. Orthologous to human TSC1 (TSC complex subunit 1).
Genome Resources: Alliance (1),  Gene:337167 (1),  Ensembl(GRCz11):ENSDARG00000026048 (1)
GENE EXPRESSION
All Expression Data: 7 figures from 2 publications
Directly Submitted Expression Data: 6 figures (12 images) from Thisse et al., 2004 [MGC:63657]
Wild-type Stages, Structures: Blastula:High (3.33h-3.66h) to Hatching:Long-pec (48.0h-60.0h)
 
Curated Microarray Expression: GEO (1)
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Allele Type Localization Consequence Mutagen Suppliers
sa12047 Point Mutation Unknown Splice Site ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa20445 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa31448 Point Mutation Unknown Splice Site ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa33623 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • Sequence Targeting Reagents
    Targeting Reagent Created Alleles Publications
    MO1-tsc1a N/A 3
    MO2-tsc1a N/A 2
    DISEASE ASSOCIATED WITH tsc1a HUMAN ORTHOLOG
    Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
    lymphangioleiomyomatosis Alliance Lymphangioleiomyomatosis 606690
    tuberous sclerosis 1 Alliance Tuberous sclerosis-1 191100
    Focal cortical dysplasia, type II, somatic 607341
    DISEASE ASSOCIATED WITH tsc1a VIA EXPERIMENTAL MODELS No data available
    GENE ONTOLOGY
    Ontology GO Term
    Biological Process pronephros development (more)
    Cellular Component Golgi apparatus (more)
    GO Terms (all 9)
    PROTEIN FAMILIES, DOMAINS AND SITES
  • InterPro:IPR007483 (1)
  • Pfam:PF04388 (1)
  • TRANSCRIPTS
    Type Name Length (nt) Analysis
    mRNA tsc1a-201 (1)    Ensembl 3687
    Browsers: UCSCNCBIEnsemblZFIN
    INTERACTIONS AND PATHWAYS
    ANTIBODIES No data available
    PLASMIDS No data available
    CONSTRUCTS WITH SEQUENCES FROM tsc1a No data available
    MARKER RELATIONSHIPS
    tsc1a Contained in: [BAC] CH211-215C18 (1) (order this)
    tsc1a Encodes: [cDNA] MGC:63657 (1) (order this)
    tsc1a Has Artifact: [EST] fa99f04
    SEQUENCE INFORMATION
    Type Accession # Length (bp/aa) Analysis
    RNA RefSeq:NM_200052 (1) 3690 bp
    Genomic GenBank:BX276128 (1) 176461 bp
    Select Tool
    Polypeptide UniProtKB:A0A2R8QHE1 (1) 1137 aa
    Sequence Clusters UniGene:76398 (1)
    Sequence Information (all 21)
    ORTHOLOGY for tsc1a ( Chr: 5 )
    CITATIONS (25)