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ZIRC
ZFIN ID: ZDB-GENE-050211-6
Gene Name: structural maintenance of chromosomes flexible hinge domain containing 1
Gene Symbol: smchd1    Nomenclature History

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(Including Attributions)
Gene Type: protein_coding_gene
Location: Chr: 7 Mapping Details/Browsers
Description: Predicted to have ATP binding activity. Involved in embryonic cranial skeleton morphogenesis. Predicted to localize to the chromosome. Human ortholog(s) of this gene implicated in facioscapulohumeral muscular dystrophy 2. Is expressed in blood cell; intermediate cell mass of mesoderm; and posterior lateral mesoderm. Orthologous to human SMCHD1 (structural maintenance of chromosomes flexible hinge domain containing 1).
Genome Resources: Alliance (1),  Gene:497282 (1),  Ensembl(GRCz11):ENSDARG00000104374 (1)
GENE EXPRESSION
All Expression Data: 4 figures from 2 publications
Wild-type Stages, Structures: Segmentation:5-9 somites (11.66h-14.0h) to Pharyngula:Prim-25 (36.0h-42.0h)
 
Curated Microarray Expression: GEO (1)
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Allele Type Localization Consequence Mutagen Suppliers
sa18180 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa27111 Point Mutation Unknown Premature Stop ENU
    sa34256 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
    CRISPR1-smchd1
    1
    MO1-smchd1 N/A 2
    MO2-smchd1 N/A 1
    MO3-smchd1 N/A 1
    DISEASE ASSOCIATED WITH smchd1 HUMAN ORTHOLOG
    Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
    facioscapulohumeral muscular dystrophy 2 Alliance Fascioscapulohumeral muscular dystrophy 2, digenic 158901
    Bosma arhinia microphthalmia syndrome 603457
    DISEASE ASSOCIATED WITH smchd1 VIA EXPERIMENTAL MODELS
    Human Disease Fish Conditions Citations
    choanal atresia zf195Tg + CRISPR1-smchd1(AB) standard conditions Shaw et al., 2017
    GENE ONTOLOGY
    Ontology GO Term
    Biological Process embryonic cranial skeleton morphogenesis (more)
    Cellular Component chromosome (more)
    Molecular Function ATP binding (more)
    GO Terms (all 5)
    TRANSCRIPTS
    Type Name Length (nt) Analysis
    mRNA smchd1-201 (1)    Ensembl 6420
    Browsers: NCBIEnsemblZFIN
    INTERACTIONS AND PATHWAYS
    ANTIBODIES No data available
    PLASMIDS No data available
    CONSTRUCTS WITH SEQUENCES FROM smchd1 No data available
    MARKER RELATIONSHIPS
    smchd1 Contained in: [BAC] CH73-310J3 (1) (order this)
    SEQUENCE INFORMATION
    Type Accession # Length (bp/aa) Analysis
    RNA RefSeq:XM_009303635 (1)
    Genomic GenBank:FP016237 (1) 90568 bp
    Select Tool
    Polypeptide UniProtKB:A0A0G2L6F5 (1) 1983 aa
    Sequence Clusters UniGene:115612 (1)
    Sequence Information (all 11)
    ORTHOLOGY for smchd1 ( Chr: 7 )
    CITATIONS (15)