• Gene id: 23347

Gene Summary

• Gene Symbol: SMCHD1   Gene   UCSC   Ensembl
• Aliases: BAMS, FSHD2
• Gene name: structural maintenance of chromosomes flexible hinge domain containing 1
• Alternate names: structural maintenance of chromosomes flexible hinge domain-containing protein 1, SMC hinge domain-containing protein 1,
• Gene location: 18p11.32 (2655725: 2805016)     Exons: 51     NC_000018.10
• Gene summary(Entrez): This gene encodes a protein which contains a hinge region domain found in members of the SMC (structural maintenance of chromosomes) protein family. [provided by RefSeq, Dec 2011]
• OMIM: 614982

Protein Summary

• Protein general information: A6NHR9  
  • Name: Structural maintenance of chromosomes flexible hinge domain containing protein 1 (SMC hinge domain containing protein 1) (EC 3.6.1. )
  • Length: 2005  
  • Mass: 226374
• Sequence:

  MAAADGGGPGGASVGTEEDGGGVGHRTVYLFDRREKESELGDRPLQVGERSDYAGFRACVCQTLGISPEEKFVIT
  TTSRKEITCDNFDETVKDGVTLYLLQSVNQLLLTATKERIDFLPHYDTLVKSGMYEYYASEGQNPLPFALAELID
  NSLSATSRNIGVRRIQIKLLFDETQGKPAVAVIDNGRGMTSKQLNNWAVYRLSKFTRQGDFESDHSGYVRPVPVP
  RSLNSDISYFGVGGKQAVFFVGQSARMISKPADSQDVHELVLSKEDFEKKEKNKEAIYSGYIRNRKPSDSVHITN
  DDERFLHHLIIEEKEKDSFTAVVITGVQPEHIQYLKNYFHLWTRQLAHIYHYYIHGPKGNEIRTSKEVEPFNNID
  IEISMFEKGKVPKIVNLREIQDDMQTLYVNTAADSFEFKAHVEGDGVVEGIIRYHPFLYDRETYPDDPCFPSKLK
  DEDDEDDCFILEKAARGKRPIFECFWNGRLIPYTSVEDFDWCTPPKKRGLAPIECYNRISGALFTNDKFQVSTNK
  LTFMDLELKLKDKNTLFTRILNGQEQRMKIDREFALWLKDCHEKYDKQIKFTLFKGVITRPDLPSKKQGPWATYA
  AIEWDGKIYKAGQLVKTIKTLPLFYGSIVRFFLYGDHDGEVYATGGEVQIAMEPQALYDEVRTVPIAKLDRTVAE
  KAVKKYVEDEMARLPDRLSVTWPEGDELLPNEVRPAGTPIGALRIEILNKKGEAMQKLPGTSHGGSKKLLVELKV
  ILHSSSGNKEIISHISQHGGKWPYWFKKMENIQKLGNYTLKLQVVLNESNADTYAGRPLPSKAIKFSVKEGKPEK
  FSFGLLDLPFRVGVPFNIPLEFQDEFGHTSQLVTDIQPVLEASGLSLHYEEITKGPNCVIRGVTAKGPVNSCQGK
  NYNLKVTLPGLKEDSQILKIRLLPGHPRRLKVKPDSEILVIENGTAFPFQVEVLDESDNITAQPKLIVHCKFSGA
  PNLPVYVVDCSSSGTSILTGSAIQVQNIKKDQTLKARIEIPSCKDVAPVEKTIKLLPSSHVARLQIFSVEGQKAI
  QIKHQDEVNWIAGDIMHNLIFQMYDEGEREINITSALAEKIKVNWTPEINKEHLLQGLLPDVQVPTSVKDMRYCQ
  VSFQDDHVSLESAFTVRPLPDEPKHLKCEMKGGKTVQMGQELQGEVVIIITDQYGNQIQAFSPSSLSSLSIAGVG
  LDSSNLKTTFQENTQSISVRGIKFIPGPPGNKDLCFTWREFSDFIRVQLISGPPAKLLLIDWPELKESIPVINGR
  DLQNPIIVQLCDQWDNPAPVQHVKISLTKASNLKLMPSNQQHKTDEKGRANLGVFSVFAPRGEHTLQVKAIYNKS
  IIEGPIIKLMILPDPEKPVRLNVKYDKDASFLAGGLFTDFMISVISEDDSIIKNINPARISMKMWKLSTSGNRPP
  ANAETFSCNKIKDNDKEDGCFYFRDKVIPNKVGTYCIQFGFMMDKTNILNSEQVIVEVLPNQPVKLVPKIKPPTP
  AVSNVRSVASRTLVRDLHLSITDDYDNHTGIDLVGTIIATIKGSNEEDTDTPLFIGKVRTLEFPFVNGSAEIMSL
  VLAESSPGRDSTEYFIVFEPRLPLLSRTLEPYILPFMFYNDVKKQQQMAALTKEKDQLSQSIVMYKSLFEASQQL
  LNEMKCQVEEARLKEAQLRNELKIHNIDIPTTQQVPHIEALLKRKLSEQEELKKKPRRSCTLPNYTKGSGDVLGK
  IAHLAQIEDDRAAMVISWHLASDMDCVVTLTTDAARRIYDETQGRQQVLPLDSIYKKTLPDWKRSLPHFRNGKLY
  FKPIGDPVFARDLLTFPDNVEHCETVFGMLLGDTIILDNLDAANHYRKEVVKITHCPTLLTRDGDRIRSNGKFGG
  LQNKAPPMDKLRGMVFGAPVPKQCLILGEQIDLLQQYRSAVCKLDSVNKDLNSQLEYLRTPDMRKKKQELDEHEK
  NLKLIEEKLGMTPIRKCNDSLRHSPKVETTDCPVPPKRMRREATRQNRIITKTDV

• Structural information:
  • Protein Domains: (1720..184-)
    (/note="SMC-hinge)
    (/evidence="ECO:0000255"-)
  • Interpro: IPR036890  IPR010935  IPR036277  IPR038892  
  • PDB: 6MW7
  • PDBsum: 6MW7
  • STRING: ENSP00000326603
• Other Databases: GeneCards:  SMCHD1  Malacards:  SMCHD1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0009048	dosage compensation by inactivation of X chromosome	IDA	biological process
GO:0035861	site of double-strand break	IDA	cellular component
GO:0035861	site of double-strand break	IDA	cellular component
GO:0001740	Barr body	IDA	cellular component
GO:0043584	nose development	IMP	biological process
GO:0042803	protein homodimerization activity	ISS	molecular function
GO:0070868	heterochromatin organization involved in chromatin silencing	ISS	biological process
GO:0060820	inactivation of X chromosome by heterochromatin assembly	ISS	biological process
GO:2001034	positive regulation of double-strand break repair via nonhomologous end joining	IMP	biological process
GO:0043584	nose development	IMP	biological process
GO:0016887	ATPase activity	ISS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0045739	positive regulation of DNA repair	IMP	biological process
GO:2000042	negative regulation of double-strand break repair via homologous recombination	IMP	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0005694	chromosome	IEA	cellular component
GO:0006302	double-strand break repair	IEA	biological process
GO:0051276	chromosome organization	IEA	biological process
GO:0006325	chromatin organization	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0006281	DNA repair	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0005694	chromosome	IEA	cellular component
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0009048	dosage compensation by inactivation of X chromosome	IEA	biological process
GO:0042803	protein homodimerization activity	IEA	molecular function
GO:0060820	inactivation of X chromosome by heterochromatin assembly	IEA	biological process
GO:0060821	inactivation of X chromosome by DNA methylation	IEA	biological process
GO:0070868	heterochromatin organization involved in chromatin silencing	IEA	biological process
GO:0001740	Barr body	IEA	cellular component
GO:0016887	ATPase activity	IEA	molecular function
GO:0000784	nuclear chromosome, telomeric region	IDA	colocalizes with
GO:0005694	chromosome	IEA	cellular component

Diseases

Associated diseases	References
Facioscapulohumeral muscular dystrophy	KEGG:H00591
Facioscapulohumeral muscular dystrophy	KEGG:H00591
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)