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Smchd1
Gene Detail
Symbol

Name
ID
Smchd1
SMC hinge domain containing 1
MGI:1921605
Synonyms
4931400A14Rik, mKIAA0650, MommeD1
Feature Type
protein coding gene
Genetic Map
Chromosome 17
41.87 cM
Detailed Genetic Map ± 1 cM


Mapping data(3)
Sequence Map
Chr17:71344489-71475343 bp, - strand
From VEGA annotation of GRCm38

  130855 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:23665  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: SMCHD1
Gene Tree: Smchd1

Human
homologs
SMCHD1, structural maintenance of chromosomes flexible hinge domain containing 1
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 23347
neXtProt AC: NX_A6NHR9

Human Chr (Location): 18p11.32; chr18:2655887-2805017 (+)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human SMCHD1

Mutations,
alleles, and
phenotypes
All mutations/alleles(59) : Chemically induced (ENU)(1) Gene trapped(58)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
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.
 
Interactions
Smchd1 interacts with 234 markers (Mir7-1, Mir7-2, Mir7b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (7 annotations)
Process chromosome organization, dosage compensation by inactivation of X chromosome, ...
Component Barr body, chromosome
Function ATP binding
External Resources: FuncBase
Expression
Literature Summary: (4 records)
Data Summary: Results (19)    Tissues (14)    Images (3)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 19
cDNA source data(169)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase smchd1    NEW 
Molecular
reagents
All nucleic(169) cDNA(169)
Microarray probesets(4)
Other database
links
VEGA Gene Model OTTMUSG00000033170 (Evidence)
Ensembl Gene Model ENSMUSG00000024054 (Evidence)
Entrez Gene 74355 (Evidence)
UniGene 194450
DFCI TC1583486, TC1575655, TC1598087, TC1602750, TC1616481, TC1715971
DoTS DT.91391737, DT.534846
Consensus CDS Project CCDS28958.2
International Mouse Phenotyping Consortium Status Smchd1
Sequences
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 sequences
All sequences(53) RefSeq(4) UniProt(1)
Polymorphisms
SNPs within 2kb(504 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR003594 Histidine kinase-like ATPase, ATP-binding domain
InterPro IPR010935 SMCs flexible hinge
Protein Ontology PR:000030591 structural maintenance of chromosomes flexible hinge domain-containing protein 1
References
(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:204566 Gendrel AV, et al., Epigenetic functions of smchd1 repress gene clusters on the inactive X chromosome and on autosomes. Mol Cell Biol. 2013 Aug;33(16):3150-65
All references(36)
Other
accession IDs
MGI:2147087, MGI:3586534

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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last database update
07/21/2015
MGI 5.22
The Jackson Laboratory