Smchd1 MGI Mouse Gene Detail - MGI:1921605 - SMC hinge domain containing 1

Smchd1 Gene Detail

Symbol

Smchd1
Name

SMC hinge domain containing 1
Synonyms

4931400A14Rik, mKIAA0650, MommeD1

Feature Type

protein coding gene
IDs

MGI:1921605
NCBI Gene: 74355

Sequence Map

Chr17:71344489-71475343 bp, - strand
From VEGA annotation of GRCm38

Mouse Genome Browser
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Sequence

130855 bp ± kb flank
Genome Browsers

VEGA | Ensembl | UCSC | NCBI

Genetic Map

Chromosome 17, 41.87 cM
Mapping Data

3 experiments

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

HGNC:29090

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

Diseases

1 with human SMCHD1 associations

				Human Disease	Mouse Models
				facioscapulohumeral muscular dystrophy IDs facioscapulohumeral muscular dystrophy DOID:11727 ICD10CM:G71.0 MESH:D020391 NCI:C84704 OMIM:158900 OMIM:158901 UMLS_CUI:C0238288

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

7 phenotypes from 2 alleles in 3 genetic backgrounds
1 phenotype from multigenic genotypes
12 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

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.

All Mutations and Alleles

61
Chemically induced (ENU)

3
Gene trapped

58
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

88 strains or lines available

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.

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All GO Annotations

10
GO References

6

External Resources

FuncBase

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	receptor	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.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

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

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase smchd1

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Smchd1 interacts with 234 markers (Mir7-1, Mir7-2, Mir7b, ...) View All

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All Sequences

45
RefSeq

4
UniProt

1
CCDS

CCDS28958.2
UniGene

194450

			Length	Strain/Species	Flank
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

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SNPs within 2kb

493 from dbSNP Build 142

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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-like ATPase, C-terminal domain

IPR010935 SMCs flexible hinge

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All nucleic 169

cDNA 169

Microarray probesets 4

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MGI:2147087, MGI:3586534

Summaries

All 37

Developmental Gene Expression 4

Gene Ontology 6

Phenotypes 12
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:241466 Chen K, et al., The epigenetic regulator Smchd1 contains a functional GHKL-type ATPase domain. Biochem J. 2016 Jun 15;473(12):1733-44

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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