ZFIN ID: ZDB-GENE-071218-4
Gene Name: spectrin repeat containing, nuclear envelope 1b
Gene Symbol: syne1b    Nomenclature History

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(Including Attributions)
Gene Type: protein_coding_gene
Location: Chr: 17 Mapping Details/Browsers
Description: Predicted to have actin filament binding activity. Involved in heart development. Predicted to localize to the cytoplasm; meiotic nuclear membrane microtubule tethering complex; and nuclear outer membrane. Human ortholog(s) of this gene implicated in autosomal dominant Emery-Dreifuss muscular dystrophy 4; autosomal recessive cerebellar ataxia; bipolar disorder; cerebellar ataxia; and muscular dystrophy. Orthologous to human SYNE1 (spectrin repeat containing nuclear envelope protein 1).
Genome Resources: Alliance (1),  Gene:567576 (1),  Ensembl(GRCz11):ENSDARG00000063068 (2)
GENE EXPRESSION
All Expression Data: text only from Haskell et al., 2017
Wild-type Stages, Structures: Hatching:Long-pec (48.0h-60.0h) to Larval:Protruding-mouth (72.0h-96.0h, 3.5mm)
 
Curated Microarray Expression: GEO (1) , Expression Atlas (1)
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Allele Type Localization Consequence Mutagen Suppliers
sa2927 Point Mutation Unknown Premature Stop ENU
sa7443 Point Mutation Unknown Missense ENU
sa7444 Point Mutation Unknown Missense ENU
sa8519 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa8603 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa8895 Point Mutation Unknown Splice Site ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa9065 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa9773 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa10324 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa10495 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa11059 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa11189 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa11252 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa11274 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa11808 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa12762 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa13399 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa13678 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa14682 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa14747 Point Mutation Unknown Splice Site ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa16903 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa18036 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa28803 Point Mutation Unknown Premature Stop ENU
    sa28804 Point Mutation Unknown Splice Site ENU
    sa28805 Point Mutation Unknown Premature Stop ENU
    sa28806 Point Mutation Unknown Premature Stop ENU
    sa30694 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa32119 Point Mutation Unknown Splice Site ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa32120 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa36317 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa36318 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa36319 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa42869 Point Mutation Unknown Premature Stop ENU
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa45593 Point Mutation Unknown Premature Stop ENU
  • Zebrafish International Resource Center (ZIRC) (order this)
  • Sequence Targeting Reagents
    Targeting Reagent Created Alleles Publications
    MO1-syne1b N/A 1
    MO2-syne1b N/A 1
    DISEASE ASSOCIATED WITH syne1b HUMAN ORTHOLOG
    Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
    autosomal dominant Emery-Dreifuss muscular dystrophy 4 Alliance Emery-Dreifuss muscular dystrophy 4, autosomal dominant 612998
    Arthrogryposis multiplex congenita, myogenic type 618484
    Spinocerebellar ataxia, autosomal recessive 8 610743
    DISEASE ASSOCIATED WITH syne1b VIA EXPERIMENTAL MODELS No data available
    GENE ONTOLOGY
    Ontology GO Term
    Biological Process heart development (more)
    Cellular Component integral component of membrane (more)
    Molecular Function actin binding (more)
    GO Terms (all 11)
    PROTEIN FAMILIES, DOMAINS AND SITES
    Type InterPro ID Name
    Conserved_site IPR001589 Actinin-type actin-binding domain, conserved site
    Domain IPR001715 Calponin homology domain
    Repeat IPR002017 Spectrin repeat
    Domain IPR012315 KASH domain
    Repeat IPR018159 Spectrin/alpha-actinin
    Family IPR030265 Nesprin-1
    Homologous_superfamily IPR036872 CH domain superfamily
    TRANSCRIPTS
    Type Name Length (nt) Analysis
    mRNA syne1b-202 (1)    Ensembl 27036
    Select Tool
    syne1b-203 (1)    Ensembl 870
    Browsers: NCBIEnsemblZFIN
    INTERACTIONS AND PATHWAYS
    ANTIBODIES No data available
    PLASMIDS No data available
    CONSTRUCTS WITH SEQUENCES FROM syne1b No data available
    MARKER RELATIONSHIPS
    syne1b Contained in: [BAC] CH211-37K10 (1), CH211-195G8 (1), DKEY-38J10 (1) (order this), DKEY-260G24 (1) (order this)
    SEQUENCE INFORMATION
    Type Accession # Length (bp/aa) Analysis
    RNA RefSeq:XM_009292831 (1)
    Genomic GenBank:BX511113 (1) 191193 bp
    Select Tool
    Polypeptide UniProtKB:E7EZ30 (1) 8710 aa
    Sequence Information (all 23)
    ORTHOLOGY for syne1b ( Chr: 17 )
    CITATIONS (21)