Smchd1
entrez
74355
canonical
uniprot
Q6P5D8
canonical
ensembl
ENSMUSG00000024054
resolver
ensp
ENSMUSP00000121835
resolver
enst
ENSMUST00000127430
resolver
genesymbol
Smchd1
resolver
genesymbol_syn
Kiaa0650
resolver
uniprot
Q6PDM8
resolver
uniprot
Q6PE93
resolver
uniprot
Q6ZQ78
resolver
uniprot
Q811H3
resolver
uniprot
Q8BP09
resolver
uniprot
Q9D4M7
resolver
uniprot_entry
SMHD1_MOUSE
resolver
uniprot_sec
Q6PDM8
resolver
uniprot_sec
Q6PE93
resolver
uniprot_sec
Q6ZQ78
resolver
uniprot_sec
Q811H3
resolver
uniprot_sec
Q8BP09
resolver
uniprot_sec
Q9D4M7
resolver
amino_acid_sequence
MAAEGASDPAGLSEGSGRDGAVDGCRTVYLFDRRGKDSELGDRALQVSEHADYAGFRASVCQTIGISSEEKFVITTTSRKEITCNNFDHTVKDGVTLYLLQSVDQSLLTATKERIDFLPHYDTLVKSGMYEYYASEGQNPLPFALAELIDNSLSATSRNNGVRRIQIKLLFDETQGKPAVAVVDNGRGMTSKQLNNWAVYRLSKFTRQGDFESDHSGYVRPLPVPRSLNSDISYFGVGGKQAVFFVGQSARMISKPIDSKDVHELVLSKEDFEKKEKNKEAIYSGYIRNRKPADSAHITNDDERFLHNLIEEEKEKDSFTAVVITGVQPEHIQYLKNYLHLWTRQLTHIYHYYIHGPKGNEISTAKAIGPFNNIDIEISLFEKGKTPKIINLREIQDDMQTLYINTASDSFEFKAHVEGDGVVEGVIRYHPFLYDRETFPDDPCFPSKLKDEDDDDDCFISEKAARGKRPIFECFWNGRLIPYTSVGDFDWCAPPKKRGLVPIECFNRISGALFTNDKFQVSTNKLTFMDLELKLKDKNTLFTRILNGQEQRMKIDREFALWLKDCHEKHDKQIKFTLFKGIITRPDLPTKKQGPWATFSAIEWDGKIYKAGQLVKTIKTLPLCYGSIVRFFLHGDHDGEVYATGGEVQIAMEPQALYDEIKTVPIAKLDRTVAEKTIRKYVEDEMARLPDRLSVTWPEGDELLPNEVRPAGTPIGALRIEILNKKGEAMQKLPGTSHGGSKKLLVELKVILHTSSGNKEIISHISQHGGKWPYWFKKMENIQKLGNYTLKLQVVLNESNADTYAGRSLPSKVIKFSVKEGKPEKFSFGLLDSPFRVGVPFNIPLELQDEFGHTTQLLSDIEPVLEASGLSLHYEGITKGPNCVIQGVVAKGPVNSCQGKNFNLKVILPGLKEDSQILKIRLLPGPPHQLKVKPDSEVLVIENGTAFPFQVEVVDESDNITAQPKLIVHCKFLGAPNLPVYTVDCSSSGTSILTGSPIQVQNIKKDQKTLTARIEIPSCKDVSPVEKTIKLLPSSHAACLQIFSVEEQKAIQIKHQDEVTWVAGDVIRNLIFQMYDEGEREINITPSLAEKIKVNWTPEVNKEHLVQGLLPDVQVPTSVKDVRYCHVSFQDDHVCLESAFTVRPLPDDPKHLKCELKGGKTVQMGQELQGEIVVIIADQYGNQISSFSPDSLSTLSITGDGLDSSNLKITLEANSQSVSVQGIRFTPGPPGPKDLCFTWREFSDFLRVQLVSGPPTKLLLMDWPELKESIPVINGRQLENPLIVQLCDQWDNPALVPNVKICLIKASSLRLLPSNQQHKTDDKGRANLGVFTVCAPRGEHTVQVKGVYNKSTIEGPTIKLTILPDPEKPIRLNVKYDQDASFIAGDIFTDFMVSVISESGSVIKNINPTRISMKMWKLSSGMSRPPANAETFSCNKIKGNDKEDGCFYFREKTIPNKVGAYCIQFDFMIDKTNILSSQQVIVDVLPNQPMKLVPDSQPATPAVSNVRSIASRTLVKDLRLSITDNYGNHTGMDLVGTVVATIKGFNEEDTDTPLFIGKVRTLEFPFVKGSAEITTLVLAENSPGRDSTEYFIIFEPRLSTVSGTLESYSLPFMFYNDVKKQQQMAALTKEKDELSKSITMYRSLFDANKQLVDEMKCQAEEAKLKETQLRNELKAYNIDIPATQQTTHIEALLEKKITEQNELKKRPRRLCTLPNYTKRSGDILGKIAHLAQIEDDRAAMVISWHLASDMDCVVTLTTDAARAIYDETQGRQQVLPLDSIYRKTLPDWKRPLPHFRNGKLHFKPFGNPVFARDLLTFPDNIEHCETVFGMLLGDTIILDNLDAANHYRKEVVKITHCPTLLTRDGDRIRSNGKFGGLQNKAPPMDKLRGMVFGAPVPKQCVVLGKQIDLIQQYRTALYRLSSVNEDLDNQLQYLHTPDMKKKKQELDEQEKSLKRIEQKLGMTPVRRCNESLCHSPKIEVTECPIPTKRMRRESTRQNRRPKGDVPN
uniprot
proteins
ec_number
3.6.1.-
uniprot
proteins
function
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 (PubMed:26091879, PubMed:29887375). Promotes heterochromatin formation in both autosomes and chromosome X, probably by mediating the merge of chromatin compartments (PubMed:23754746, PubMed:23819640, PubMed:26391951, PubMed:28587678, PubMed:29887375). Plays a key role in chromosome X inactivation in females by promoting the spreading of heterochromatin (PubMed:18425126, PubMed:22841499, PubMed:26391951, PubMed:29887375). 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 (PubMed:29887375). Required to facilitate Xist RNA spreading (PubMed:29887375). Also required for silencing of a subset of clustered autosomal loci in somatic cells, such as the DUX4 locus (PubMed:23754746, PubMed:23819640, PubMed:28587678). Has ATPase activity; may participate in structural manipulation of chromatin in an ATP-dependent manner as part of its role in gene expression regulation (PubMed:26391951, PubMed:27059856). 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 (PubMed:29900695). {ECO:0000250|UniProtKB:A6NHR9, ECO:0000269|PubMed:18425126, ECO:0000269|PubMed:22841499, ECO:0000269|PubMed:23754746, ECO:0000269|PubMed:23819640, ECO:0000269|PubMed:26091879, ECO:0000269|PubMed:26391951, ECO:0000269|PubMed:27059856, ECO:0000269|PubMed:28587678, ECO:0000269|PubMed:29887375, ECO:0000269|PubMed:29900695}.
uniprot
proteins
mass_dalton
225648
uniprot
proteins
mutagenesis
MUTAGEN 147; /note="E->A: Abolishes ATPase activity."; /evidence="ECO:0000269|PubMed:26391951"; MUTAGEN 1867; /note="R->G: Abolishes ability to bind DNA without altering the ability of the SMC hinge domain to mediate homodimerization."; /evidence="ECO:0000269|PubMed:26091879, ECO:0000269|PubMed:26733688"; MUTAGEN 1872..1876; /note="GKFGG->AKFAA: Abolishes homodimerization."; /evidence="ECO:0000269|PubMed:26391951
uniprot
proteins
post_translational_modification
PTM: Sumoylated with SUMO1. {ECO:0000269|PubMed:23213215}.
uniprot
proteins
protein_family
SMC family
uniprot
proteins
pubmed
14621295
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16141072
uniprot
proteins
pubmed
18425126
uniprot
proteins
pubmed
19468303
uniprot
proteins
pubmed
21183079
uniprot
proteins
pubmed
21553025
uniprot
proteins
pubmed
22841499
uniprot
proteins
pubmed
23213215
uniprot
proteins
pubmed
23754746
uniprot
proteins
pubmed
23806337
uniprot
proteins
pubmed
23819640
uniprot
proteins
pubmed
26091879
uniprot
proteins
pubmed
26391951
uniprot
proteins
pubmed
26733688
uniprot
proteins
pubmed
27059856
uniprot
proteins
pubmed
28067911
uniprot
proteins
pubmed
28587678
uniprot
proteins
pubmed
29887375
uniprot
proteins
pubmed
29900695
uniprot
proteins
sequence_length
2007
uniprot
proteins
subcellular_location
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}.
uniprot
proteins