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Syne1 Gene Detail
Summary
  • Symbol
    Syne1
  • Name
    spectrin repeat containing, nuclear envelope 1
  • Synonyms
    A330049M09Rik, C130039F11Rik, enaptin165, MGC:62825, nesprin-1, SYNE-1
  • Feature Type
    protein coding gene
  • IDs
    MGI:1927152
    NCBI Gene: 64009
  • Alliance
    gene page
  • Transcription Start Sites
    44 TSS
Location &
Maps
more
  • Sequence Map
    Chr10:4970917-5501482 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 10, 2.01 cM, cytoband A1
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    16409 from dbSNP Build 142
  • Strain Annotations
    2
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1927152
 protein coding gene Chr10:4970192-5501482 (-)
129S1/SvImJ no annotation
A/J no annotation
AKR/J no annotation
BALB/cJ no annotation
C3H/HeJ no annotation
C57BL/6NJ no annotation
CAROLI/EiJ MGP_CAROLIEiJ_G0015087
 protein coding gene Chr10:1741029-2252489 (-)
CAST/EiJ no annotation
CBA/J no annotation
DBA/2J no annotation
FVB/NJ no annotation
LP/J no annotation
NOD/ShiLtJ no annotation
NZO/HlLtJ no annotation
PWK/PhJ no annotation
SPRET/EiJ no annotation
WSB/EiJ no annotation



Homology
more
  • Human Ortholog
    SYNE1, spectrin repeat containing nuclear envelope protein 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SYNE1, spectrin repeat containing nuclear envelope protein 1
  • Synonyms
    8B, AMC3, AMCM, ARCA1, C6orf98, CPG2, dJ45H2.2, EDMD4, KASH1, MYNE1, Nesp1, SCAR8
  • Links
    NCBI Gene ID: 23345
    neXtProt AC: NX_Q8NF91
    UniProt: Q8NF91

  • Chr Location
    6q25.2; chr6:152121687-152637801 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Syne1 mouse models; 7 with human SYNE1 associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
IDs
IDs
IDs
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    30 phenotypes from 5 alleles in 4 genetic backgrounds
    14 phenotypes from multigenic genotypes
    1 images
    18 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Mice homozygous for an allele lacking the KASH domain exhibit neonatal and postnatal lethality, progressive muscular dystrophy, and limb weakness.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    36
  • GO References
    11
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    826
  • Tissues
    110
  • cDNA Data
    53
  • Literature Summary
    12
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000096054 Ensembl Gene Model | MGI Sequence Detail 530566 C57BL/6J ±  kb
    transcript ENSMUST00000215295 Ensembl | MGI Sequence Detail 27908 Not Applicable  
    polypeptide ENSMUSP00000150262 Ensembl | MGI Sequence Detail 8799 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      12 Sequences
    • InterPro Domains
      IPR001589 Actinin-type actin-binding domain, conserved site
      IPR026696 A-kinase anchor protein 6/Centrosomal protein of 68kDa
      IPR001715 Calponin homology domain
      IPR036872 CH domain superfamily
      IPR012315 KASH domain
      IPR047290 Nesprin-1-like, first calponin homology domain
      IPR047291 Nesprin-1-like, second calponin homology domain
      IPR039906 Nuclear anchorage protein 1/Nesprin-1/2-like
      IPR018159 Spectrin/alpha-actinin
      IPR002017 Spectrin repeat
    • GlyGen
      Q6ZWR6 6 sites, 4 N-linked glycans (3 sites), 1 O-linked glycan (3 sites)
    Molecular
    Reagents
    less
    • All nucleic 55
      cDNA 53
      Primer pair 2

      Microarray probesets 7
    Other
    Accession IDs
    less
    MGI:2441878, MGI:2443486, MGI:3034487
    References
    more
    • Summaries
      All 71
      Developmental Gene Expression 12
      Diseases 1
      Gene Ontology 11
      Phenotypes 18
    • Earliest
      J:65130 Apel ED, et al., Syne-1, A dystrophin- and klarsicht-related protein associated with synaptic nuclei at the neuromuscular junction. J Biol Chem. 2000 Oct 13;275(41):31986-95
    • Latest
      J:349860 Hashimoto K, et al., Loss of connectin novex-3 leads to heart dysfunction associated with impaired cardiomyocyte proliferation and abnormal nuclear mechanics. Sci Rep. 2024 Jun 14;14(1):13727
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory