Protein: Structural maintenance of chromosomes flexible hinge domain-containing protein 1 (SMC hinge domain-containing protein 1) (EC 3.6.1.-) (Q6P5D8)
Organism: Mus musculus (Mouse)
Function: Non-canonical member of the structural maintenance of chromosomes (SMC) protein family that plays a key role in epigenetic silencing by regulating chromatin architecture. Promotes heterochromatin formation in both autosomes and chromosome X, probably by mediating the merge of chromatin compartments. Plays a key role in chromosome X inactivation in females by promoting the spreading of heterochromatin. Recruited to inactivated chromosome X by Xist RNA and acts by mediating the merge of chromatin compartments: promotes random chromatin interactions that span the boundaries of existing structures, leading to create a compartment-less architecture typical of inactivated chromosome X. Required to facilitate Xist RNA spreading. Also required for silencing of a subset of clustered autosomal loci in somatic cells, such as the DUX4 locus. Has ATPase activity; may participate in structural manipulation of chromatin in an ATP-dependent manner as part of its role in gene expression regulation. Also plays a role in DNA repair: localizes to sites of DNA double-strand breaks in response to DNA damage to promote the repair of DNA double-strand breaks (By similarity). Acts by promoting non-homologous end joining (NHEJ) and inhibiting homologous recombination (HR) repair (By similarity). Required during preimplantation development, probably acts by regulating chromatin architecture.
Subcellular location: Chromosome {ECO:0000269|PubMed:18425126, ECO:0000269|PubMed:26391951, ECO:0000269|PubMed:29887375}. Note=Recruited to inactivated chromosome X in females by Xist RNA (PubMed:29887375). Localizes at sites of DNA damage at double-strand breaks (DSBs) (By similarity). {ECO:0000250|UniProtKB:A6NHR9, ECO:0000269|PubMed:29887375}.
Interaction partners:
- Ligand-dependent nuclear receptor-interacting factor 1
- EMILIN-2
- Sister chromatid cohesion protein PDS5 homolog A
Sequence:
MAAEGASDPAGLSEGSGRDGAVDGCRTVYLFDRRGKDSELGDRALQVSEHADYAGFRASVCQTIGISSEEKFVITTTSRKEITCNNFDHTVKDGVTLYLLQSVDQSLLTATKERIDFLPHYDTLVKSGMYEYYASEGQNPLPFALAELIDNSLSATSRNNGVRRIQIKLLFDETQGKPAVAVVDNGRGMTSKQLNNWAVYRLSKFTRQGDFESDHSGYVRPLPVPRSLNSDISYFGVGGKQAVFFVGQSARMISKPIDSKDVHELVLSKEDFEKKEKNKEAIYSGYIRNRKPADSAHITNDDERFLHNLIEEEKEKDSFTAVVITGVQPEHIQYLKNYLHLWTRQLTHIYHYYIHGPKGNEISTAKAIGPFNNIDIEISLFEKGKTPKIINLREIQDDMQTLYINTASDSFEFKAHVEGDGVVEGVIRYHPFLYDRETFPDDPCFPSKLKDEDDDDDCFISEKAARGKRPIFECFWNGRLIPYTSVGDFDWCAPPKKRGLVPIECFNRISGALFTNDKFQVSTNKLTFMDLELKLKDKNTLFTRILNGQEQRMKIDREFALWLKDCHEKHDKQIKFTLFKGIITRPDLPTKKQGPWATFSAIEWDGKIYKAGQLVKTIKTLPLCYGSIVRFFLHGDHDGEVYATGGEVQIAMEPQALYDEIKTVPIAKLDRTVAEKTIRKYVEDEMARLPDRLSVTWPEGDELLPNEVRPAGTPIGALRIEILNKKGEAMQKLPGTSHGGSKKLLVELKVILHTSSGNKEIISHISQHGGKWPYWFKKMENIQKLGNYTLKLQVVLNESNADTYAGRSLPSKVIKFSVKEGKPEKFSFGLLDSPFRVGVPFNIPLELQDEFGHTTQLLSDIEPVLEASGLSLHYEGITKGPNCVIQGVVAKGPVNSCQGKNFNLKVILPGLKEDSQILKIRLLPGPPHQLKVKPDSEVLVIENGTAFPFQVEVVDESDNITAQPKLIVHCKFLGAPNLPVYTVDCSSSGTSILTGSPIQVQNIKKDQKTLTARIEIPSCKDVSPVEKTIKLLPSSHAACLQIFSVEEQKAIQIKHQDEVTWVAGDVIRNLIFQMYDEGEREINITPSLAEKIKVNWTPEVNKEHLVQGLLPDVQVPTSVKDVRYCHVSFQDDHVCLESAFTVRPLPDDPKHLKCELKGGKTVQMGQELQGEIVVIIADQYGNQISSFSPDSLSTLSITGDGLDSSNLKITLEANSQSVSVQGIRFTPGPPGPKDLCFTWREFSDFLRVQLVSGPPTKLLLMDWPELKESIPVINGRQLENPLIVQLCDQWDNPALVPNVKICLIKASSLRLLPSNQQHKTDDKGRANLGVFTVCAPRGEHTVQVKGVYNKSTIEGPTIKLTILPDPEKPIRLNVKYDQDASFIAGDIFTDFMVSVISESGSVIKNINPTRISMKMWKLSSGMSRPPANAETFSCNKIKGNDKEDGCFYFREKTIPNKVGAYCIQFDFMIDKTNILSSQQVIVDVLPNQPMKLVPDSQPATPAVSNVRSIASRTLVKDLRLSITDNYGNHTGMDLVGTVVATIKGFNEEDTDTPLFIGKVRTLEFPFVKGSAEITTLVLAENSPGRDSTEYFIIFEPRLSTVSGTLESYSLPFMFYNDVKKQQQMAALTKEKDELSKSITMYRSLFDANKQLVDEMKCQAEEAKLKETQLRNELKAYNIDIPATQQTTHIEALLEKKITEQNELKKRPRRLCTLPNYTKRSGDILGKIAHLAQIEDDRAAMVISWHLASDMDCVVTLTTDAARAIYDETQGRQQVLPLDSIYRKTLPDWKRPLPHFRNGKLHFKPFGNPVFARDLLTFPDNIEHCETVFGMLLGDTIILDNLDAANHYRKEVVKITHCPTLLTRDGDRIRSNGKFGGLQNKAPPMDKLRGMVFGAPVPKQCVVLGKQIDLIQQYRTALYRLSSVNEDLDNQLQYLHTPDMKKKKQELDEQEKSLKRIEQKLGMTPVRRCNESLCHSPKIEVTECPIPTKRMRRESTRQNRRPKGDVPN