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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
    gene page
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
    VEGA | Ensembl | UCSC | NCBI
  • 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
    Smchd1
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
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.
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
    10
  • GO References
    6
Molecular Function

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

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
    19
  • Tissues
    14
  • cDNA Data
    169
  • Literature Summary
    4
Interactions
less
Sequences &
Gene Models
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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
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  • SNPs within 2kb
    493 from dbSNP Build 142
Protein
Information
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  • UniProt
    1 Sequence
  • Protein Ontology
    PR:000030591 structural maintenance of chromosomes flexible hinge domain-containing protein 1
    (term hierarchy)
  • InterPro Domains
    IPR003594 Histidine kinase/HSP90-like ATPase
    IPR036890 Histidine kinase/HSP90-like ATPase superfamily
    IPR010935 SMCs flexible hinge
    IPR036277 SMCs flexible hinge superfamily
Molecular
Reagents
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  • All nucleic 169
    cDNA 169

    Microarray probesets 4
Other
Accession IDs
less
MGI:2147087, MGI:3586534
References
more
  • Summaries
    All 41
    Developmental Gene Expression 4
    Gene Ontology 6
    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
Citing These Resources
Funding Information
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Send questions and comments to User Support. 		last database update
04/17/2018
MGI 6.11 		The Jackson Laboratory