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General Information
ZIRC
ZFIN ID: ZDB-GENE-160113-49
Gene Name: SIL1 nucleotide exchange factor
Gene Symbol: sil1
Sequence Ontology ID : SO:0001217

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Attributions

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Previous Name: si:ch211-195b11.7 (1)

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(Including Attributions)
Location: Chr: 14 Mapping Details/Browsers
Nomenclature History
AUTOMATED DESCRIPTION
Involved in eye development and skeletal muscle fiber development. Used to study Marinesco-Sjogren syndrome. Human ortholog(s) of this gene implicated in primary cerebellar degeneration. Orthologous  ...
GENE EXPRESSION No data available
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Targeting reagents:
DISEASE ASSOCIATED WITH sil1 HUMAN ORTHOLOG
Disease Ontology Term OMIM Term OMIM Phenotype ID
Marinesco-Sjogren syndrome Marinesco-Sjogren syndrome 248800
DISEASE ASSOCIATED WITH sil1 VIA EXPERIMENTAL MODELS
Human Disease Fish Conditions Citations
Marinesco-Sjogren syndrome AB + MO1-sil1 standard conditions Kawahara et al., 2016
AB + MO2-sil1 standard conditions Kawahara et al., 2016
GENE ONTOLOGY
Ontology GO Term
Biological Process eye development (more)
Cellular Component cytoplasm (more)
Molecular Function adenyl-nucleotide exchange factor activity (more)
GO Terms (all 5)
PROTEIN FAMILIES, DOMAINS AND SITES
  • InterPro:IPR011989 (1)
  • InterPro:IPR013918 (1)
  • InterPro:IPR016024 (1)
  • Pfam:PF08609 (1)
  • TRANSCRIPTS
    Type Name Length (bp) Analysis
    mRNA sil1-201 (1) 1922
    GENE PRODUCT DESCRIPTION No description available
    INTERACTIONS AND PATHWAYS
    ANTIBODIES
    PLASMIDS No data available
    CONSTRUCTS WITH SEQUENCES FROM sil1 No data available
    MARKER RELATIONSHIPS
    sil1 Contained in: [BAC] CH211-195B11 (1) (order this)
    SEQUENCE INFORMATION
    Type Accession # Length (bp/aa) Analysis
    RNA RefSeq:XM_009291221 (1)
    Genomic GenBank:BX088707 (1) 137128 bp
    Select Tool
    Polypeptide UniProtKB:A0A0G2KDW7 (1) 463 aa
    Sequence Information (all 7)
    ORTHOLOGY for sil1 ( Chr: 14 )
    CITATIONS (10)