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

{{control.fieldName}} Edit

ID: {{control.nomenID}}
{{control.fieldName}}:
Reason:
Comments:

Attributions

{{pub.zdbID}}
Previous Name: kiaa0650l

Add new Alias

Alias
Attribution

Attributions for Alias: {{control.newAlias}}

{{pub.zdbID}}

Delete Alias:

(Including Attributions)
Location: Chr: 7 Mapping Details/Browsers
Nomenclature History
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)
  blood cell, intermediate cell mass of mesoderm, posterior lateral mesoderm, unspecified
Curated Microarray Expression: GEO (1)
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Allele Type Localization Consequence Mutagen Suppliers
sa18180 Point Mutation Unknown Premature Stop ENU
  • Zebrafish International Resource Center (ZIRC) (order this)
  • European Zebrafish Resource Center (EZRC) (order this)
  • sa27111 Point Mutation Unknown Premature Stop ENU
    sa34256 Point Mutation Unknown Premature Stop ENU
  • Zebrafish International Resource Center (ZIRC) (order this)
  • European Zebrafish Resource Center (EZRC) (order this)
  • Targeting reagents: CRISPR1-smchd1 (1), MO1-smchd1 (1), MO2-smchd1 (1)
    PHENOTYPE
    Data: Fig. 5 from Shaw et al., 2017
    Observed in: ceratobranchial cartilage, ceratohyal cartilage, embryonic cranial skeleton morphogenesis, embryonic viscerocranium morphogenesis (all 8) expand
    DISEASE ASSOCIATED WITH smchd1 HUMAN ORTHOLOG
    Disease Ontology Term OMIM Term OMIM Phenotype ID
    facioscapulohumeral muscular dystrophy Fascioscapulohumeral muscular dystrophy 2, digenic 158901
    GENE ONTOLOGY
    Ontology GO Term
    Biological Process embryonic cranial skeleton morphogenesis (more)
    Cellular Component chromosome (more)
    Molecular Function ATP binding (more)
    GO Terms (all 4)
    PROTEIN FAMILIES, DOMAINS AND SITES
  • InterPro:IPR003594 (1)
  • InterPro:IPR010935 (1)
  • Pfam:PF06470 (1)
  • TRANSCRIPTS
    Type Name Length (bp) Analysis
    mRNA smchd1-001 (1) 6420
    GENE PRODUCT DESCRIPTION
    INTERACTIONS AND PATHWAYSNo data available
    ANTIBODIESNo data available
    PLASMIDSNo data available
    CONSTRUCTS WITH SEQUENCES FROM smchd1 No data available
    SEGMENT (CLONE AND PROBE) RELATIONSHIPS
    smchd1Contained in: [BAC] CH73-310J3 (1) (order this)
    SEQUENCE INFORMATION
    Type Accession # Length (bp/aa) Analysis
    RNA RefSeq:XM_009303635 (1) 6574bp
    Genomic GenBank:FP016237 (1) 90568bp
    Select Tool
    Polypeptide UniProtKB:A0A0G2L6F5 (1) 1983aa
    Sequence Clusters UniGene:115612 (1)
    Sequence Information (all 14)
    OTHER smchd1 GENE PAGES
  • Gene:497282 (1)
  • VEGA:OTTDARG00000043211 (1)
  • Ensembl(GRCz10):ENSDARG00000104374 (1)
  • ORTHOLOGY for smchd1 (Chr: 7)
    CITATIONS (12)