Sequence Detail

ID/Version

Q6P5D8 Q6ZQ78 Q9D4M7 Q6PE93 Q6PDM8 Q811H3 Q8BP09 (UniProt | EBI)

Last sequence update: 2008-04-29
Last annotation update: 2025-02-05

Sequence description from provider

RecName: Full=Structural maintenance of chromosomes flexible hinge domain-containing protein 1 {ECO:0000303|PubMed:18425126}; Short=SMC hinge domain-containing protein 1 {ECO:0000303|PubMed:18425126}; EC=3.6.1.- {ECO:0000269|PubMed:2639195

Provider

SWISS-PROT

Sequence

Polypeptide 2007 aa

Source

Organism mouse

See UniProt | EBI for source

Annotated genes and markers

Follow the symbol links to get more information on the GO terms, expression assays, orthologs, phenotypic alleles, and other information for the genes or markers below.

Type	Symbol	Name	GO Terms	Expression Assays	Orthologs	Phenotypic Alleles
Gene	Smchd1	SMC hinge domain containing 1	46	109	3	44

Sequence references in MGI

J:86686 Okazaki N, et al., Prediction of the coding sequences of mouse homologues of KIAA gene: III. the complete nucleotide sequences of 500 mouse KIAA-homologous cDNAs identified by screening of terminal sequences of cDNA clones randomly sampled from size-fractionated libraries. DNA Res. 2003 Aug 31;10(4):167-80
J:99680 The FANTOM Consortium and RIKEN Genome Exploration Research Group and Genome Science Group (Genome Network Project Core Group), The Transcriptional Landscape of the Mammalian Genome. Science. 2005;309(5740):1559-1563
J:142334 Blewitt ME, et al., SmcHD1, containing a structural-maintenance-of-chromosomes hinge domain, has a critical role in X inactivation. Nat Genet. 2008 May;40(5):663-9
J:193101 Tirard M, et al., In vivo localization and identification of SUMOylated proteins in the brain of His6-HA-SUMO1 knock-in mice. Proc Natl Acad Sci U S A. 2012 Dec 18;109(51):21122-7
J:201510 Roberts AR, et al., Reduced dosage of the modifiers of epigenetic reprogramming Dnmt1, Dnmt3L, SmcHD1 and Foxo3a has no detectable effect on mouse telomere length in vivo. Chromosoma. 2011 Aug;120(4):377-85
J:203468 Park J, et al., SIRT5-mediated lysine desuccinylation impacts diverse metabolic pathways. Mol Cell. 2013 Jun 27;50(6):919-30
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
J:223744 Chen K, et al., Genome-wide binding and mechanistic analyses of Smchd1-mediated epigenetic regulation. Proc Natl Acad Sci U S A. 2015 Jul 7;112(27):E3535-44
J:235840 Brideau NJ, et al., Independent Mechanisms Target SMCHD1 to Trimethylated Histone H3 Lysine 9-Modified Chromatin and the Inactive X Chromosome. Mol Cell Biol. 2015 Dec;35(23):4053-68
J:239506 Chen K, et al., The hinge domain of the epigenetic repressor Smchd1 adopts an unconventional homodimeric configuration. Biochem J. 2016 Mar 15;473(6):733-42
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
J:265664 Wang CY, et al., SMCHD1 Merges Chromosome Compartments and Assists Formation of Super-Structures on the Inactive X. Cell. 2018 Jul 12;174(2):406-421.e25
J:266348 Midic U, et al., Novel key roles for structural maintenance of chromosome flexible domain containing 1 (Smchd1) during preimplantation mouse development. Mol Reprod Dev. 2018 Jul;85(7):635-648
J:292518 Huttlin EL, et al., A tissue-specific atlas of mouse protein phosphorylation and expression. Cell. 2010 Dec 23;143(7):1174-89
J:355918 Mould AW, et al., Smchd1 regulates a subset of autosomal genes subject to monoallelic expression in addition to being critical for X inactivation. Epigenetics Chromatin. 2013 Jul 2;6(1):19