ZFIN ID: ZDB-GENE-110228-1
Gene Name: SAM and SH3 domain containing 1b
Gene Symbol: sash1b    Nomenclature History

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Gene Type: protein_coding_gene
Location: Chr: 17 Mapping Details/Browsers
Description: Human ortholog(s) of this gene implicated in dyschromatosis universalis hereditaria. Orthologous to human SASH1 (SAM and SH3 domain containing 1) and SAMD5 (sterile alpha motif domain containing 5).
Genome Resources: Alliance (1),  Gene:566448 (1),  Ensembl(GRCz11):ENSDARG00000058853 (2)
GENE EXPRESSION No data available
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Allele Type Localization Consequence Mutagen Suppliers
sa15107 Point Mutation Unknown Splice Site ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa42866 Point Mutation Unknown Premature Stop ENU
  • Zebrafish International Resource Center (ZIRC) (order this)
  • PHENOTYPE No data available
    DISEASE ASSOCIATED WITH sash1b HUMAN ORTHOLOG
    Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
    dyschromatosis universalis hereditaria Alliance Dyschromatosis universalis hereditaria 1 127500
    ?Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma 618373
    DISEASE ASSOCIATED WITH sash1b VIA EXPERIMENTAL MODELS No data available
    GENE ONTOLOGY No data available
    PROTEIN FAMILIES, DOMAINS AND SITES
    Type InterPro ID Name
    Domain IPR001452 SH3 domain
    Domain IPR001660 Sterile alpha motif domain
    Homologous_superfamily IPR013761 Sterile alpha motif/pointed domain superfamily
    Family IPR021090 SAM/SH3 domain-containing
    Domain IPR035720 SAM and SH3 domain-containing protein 1, SH3 domain
    Homologous_superfamily IPR036028 SH3-like domain superfamily
    TRANSCRIPTS No data available
    INTERACTIONS AND PATHWAYS
    ANTIBODIES No data available
    PLASMIDS No data available
    CONSTRUCTS WITH SEQUENCES FROM sash1b No data available
    MARKER RELATIONSHIPS
    sash1b Encodes: [EST] cb42 (1) (order this)
    SEQUENCE INFORMATION
    Type Accession # Length (bp/aa) Analysis
    RNA RefSeq:XM_017351746 (1)
    Genomic GenBank:CABZ01100792 (1) 43916 bp
    Select Tool
    Polypeptide UniProtKB:A0A2R8RT13 (1) 944 aa
    Sequence Information (all 53)
    ORTHOLOGY for sash1b ( Chr: 17 )
    CITATIONS (15)