ENSMUSG00000024054


Mus musculus

Features
Gene ID: ENSMUSG00000024054
  
Biological name :Smchd1
  
Synonyms : Q6P5D8 / Smchd1 / Structural maintenance of chromosomes flexible hinge domain-containing protein 1
  
Possible biological names infered from orthology : A6NHR9 / structural maintenance of chromosomes flexible hinge domain containing 1
  
Species: Mus musculus
  
Chr. number: 17
Strand: -1
Band: E1.3
Gene start: 71344489
Gene end: 71475343
  
Corresponding Affymetrix probe sets: 10452658 (MoGene1.0st)   10452701 (MoGene1.0st)   1428251_at (Mouse Genome 430 2.0 Array)   1442497_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000121835
NCBI entrez gene - 74355     See in Manteia.
MGI - MGI:1921605
RefSeq - NM_028887
RefSeq - XM_006525030
RefSeq Peptide - NP_083163
swissprot - Q6P5D8
Ensembl - ENSMUSG00000024054
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 smchd1ENSDARG00000104374Danio rerio
 SMCHD1ENSGALG00000014811Gallus gallus
 A6NHR9ENSG00000101596Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR003594  Histidine kinase/HSP90-like ATPase
 IPR010935  SMCs flexible hinge
 IPR036277  SMCs flexible hinge superfamily
 IPR036890  Histidine kinase/HSP90-like ATPase superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0009048 dosage compensation by inactivation of X chromosome IMP
 biological_processGO:0043584 nose development IEA
 biological_processGO:0051276 chromosome organization IEA
 biological_processGO:0060821 inactivation of X chromosome by DNA methylation IMP
 cellular_componentGO:0000784 nuclear chromosome, telomeric region IEA
 cellular_componentGO:0001740 Barr body IDA
 cellular_componentGO:0005694 chromosome IEA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0016887 ATPase activity IDA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0003136 yellow coat color "amount and distribution of yellow pigment (phaeomelanin) relative to black or brown pigment (eumelanin) is increased compared to wild-type agouti" [llw2:Linda L. Washburn, Mouse Genome Informatics Curator]
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Allelic Composition: Avy/A,Smchd1MommeD1/Smchd1+
Genetic Background: involves: C57BL/6J * FVB/NJ

 MP:0003787 abnormal imprinting "defect in the normal inactivation of specific loci during gametogenesis" [llw2:Linda Washburn , Mouse Genome Informatics Curator]
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Allelic Composition: Nr0b2tm1Rus/Nr0b2tm1Rus
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Smchd1MommeD1/Smchd1MommeD1
Genetic Background: FVB/NJ-Smchd1MommeD1

 MP:0004256 abnormal maternal decidual layer morphology "anomaly in the structure of the maternal uterine-derived portion of the placenta" [PMID:11433360]
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Allelic Composition: Ahrtm4.1Bra/Ahrtm4.1Bra
Genetic Background: involves: 129/Sv * C57BL/6

 MP:0005031 abnormal trophoblast "malformation of the mesectodermal cell layer covering the blastocyst that erodes the uterine mucosa and contributes to the formation of the placenta" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Ahrtm4.1Bra/Ahrtm4.1Bra
Genetic Background: involves: 129/Sv * C57BL/6

 MP:0005033 abnormal trophoblast cells "anomaly of the cells covering the blastocyst that erode the uterine mucosa and contribute to the formation of the placenta " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, dlb:Donna Burkart , Mouse Genome Informatics Curator, J:57761]
Show

Allelic Composition: Ahrtm4.1Bra/Ahrtm4.1Bra
Genetic Background: involves: 129/Sv * C57BL/6

 MP:0008877 abnormal DNA methylation "any anomaly in the covalent transfer of a methyl group to either N-6 of adenine or C-5 or N-4 of cytosine of DNA" [GO:0006306]
Show

Allelic Composition: Ahrtm4.1Bra/Ahrtm4.1Bra
Genetic Background: involves: 129/Sv * C57BL/6

Allelic Composition: Smchd1MommeD1/Smchd1MommeD1
Genetic Background: involves: C57BL/6 * FVB/N

 MP:0011101 partial prenatal lethality "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between fertilization and birth (Mus: approximately E18.5)" [MGI:csmith]
Show

Allelic Composition: Smchd1MommeD1/Smchd1MommeD1
Genetic Background: involves: C57BL/6 * FVB/N

 MP:0011108 partial embryonic lethality during organogenesis "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between embryo turning and the completion of organogenesis (Mus: E9 to less than E14)" [MGI:csmith]
Show

Allelic Composition: Smchd1MommeD1/Smchd1MommeD1
Genetic Background: FVB/NJ-Smchd1MommeD1

Allelic Composition: Smchd1Gt(AD0165)Wtsi/Smchd1Gt(AD0165)Wtsi
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB/N

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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