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Smchd1 Gene Detail
Summary
  • Symbol
    Smchd1
  • Name
    SMC hinge domain containing 1
  • Synonyms
    4931400A14Rik, mKIAA0650, MommeD1
  • Feature Type
    protein coding gene
  • IDs
    MGI:1921605
    NCBI Gene: 74355
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr17:71344489-71475343 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      130855 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 17, 41.87 cM
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    SMCHD1, structural maintenance of chromosomes flexible hinge domain containing 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    SMCHD1, structural maintenance of chromosomes flexible hinge domain containing 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    BAMS, FSHD2
  • Links
    NCBI Gene ID: 23347
    neXtProt AC: NX_A6NHR9
    UniProt: A6NHR9

  • Chr Location
    18p11.32; chr18:2655887-2805017 (+)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 23665
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: SMCHD1
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with human SMCHD1 associations

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

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    7 phenotypes from 2 alleles in 3 genetic backgrounds
    1 phenotype from multigenic genotypes
    14 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Females homozygous for an ENU-induced allele die at midgestation showing placental defects and hypomethylation at X-linked genes that are normally subject to X-inactivation, whereas homozygous males are viable. Females homozygous for a gene trap allele die before E13.5, whereas males remain healthy.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
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 death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
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    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000033170 VEGA Gene Model | MGI Sequence Detail 130855 C57BL/6J ±  kb
    transcript OTTMUST00000082972 VEGA | MGI Sequence Detail 7052 Not Applicable  
    polypeptide OTTMUSP00000044523 VEGA | MGI Sequence Detail 2007 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      493 from dbSNP Build 142
    Protein
    Information
    less
    • UniProt
      1 Sequence
    • Protein Ontology
      PR:000030591 structural maintenance of chromosomes flexible hinge domain-containing protein 1
    • InterPro Domains
      IPR003594 Histidine kinase/HSP90-like ATPase
      IPR036890 Histidine kinase/HSP90-like ATPase superfamily
      IPR010935 SMCs flexible hinge
      IPR036277 SMCs flexible hinge superfamily
      IPR038892 Structural maintenance of chromosomes flexible hinge domain-containing protein 1
    Molecular
    Reagents
    less
    • All nucleic 170
      cDNA 170

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:2147087, MGI:3586534
    References
    more
    • Summaries
      All 42
      Developmental Gene Expression 5
      Gene Ontology 7
      Phenotypes 14
    • Earliest
      J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
    • Latest
      J:255702 de Greef JC, et al., Smchd1 haploinsufficiency exacerbates the phenotype of a transgenic FSHD1 mouse model. Hum Mol Genet. 2018 Feb 15;27(4):716-731

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    07/31/2018
    MGI 6.12
    The Jackson Laboratory