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

Gene Tree: Smchd1

Human
homologs

Human Homolog		SMCHD1, structural maintenance of chromosomes flexible hinge domain containing 1
NCBI Gene ID		23347
neXtProt AC		NX_A6NHR9
Human Chr (Location)		18p11.32; chr18:2655887-2805017 (+)  GRCh38
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 )
 

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 235 markers (Mir7-1, Mir7-2, Mir7b, ...)

View All

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 Type	Results
RNA in situ	19

cDNA source data(169)
External Resources: Allen Institute   GEO   Expression Atlas

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	TC1602750, TC1598087, TC1583486, TC1575655, TC1715971, TC1616481
DoTS	DT.534846, DT.91391737
Consensus CDS Project	CCDS28958.2
International Mouse Knockout Project Status	Smchd1

Sequences

Length	Strain/Species
genomic	OTTMUSG00000033170	VEGA Gene Model | MGI Sequence Detail	130855	C57BL/6J
transcript	OTTMUST00000082972	VEGA | MGI Sequence Detail	7052	Not Applicable
polypeptide	OTTMUSP00000044523	VEGA | MGI Sequence Detail	2007	Not Applicable

All sequences(53) RefSeq(4) UniProt(1)

Polymorphisms

SNPs within 2kb(504 from dbSNP Build 137)

Protein-related
information

Resource	ID	Description
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(38)

Other
accession IDs

MGI:2147087, MGI:3586534