KEGG   Homo sapiens (human): 23347
Entry
23347             CDS       T01001                                 
Symbol
SMCHD1, BAMS, FSHD2
Name
(RefSeq) structural maintenance of chromosomes flexible hinge domain containing 1
  KO
K23113  structural maintenance of chromosomes flexible hinge domain-containing protein 1
Organism
hsa  Homo sapiens (human)
Disease
H00591  Facioscapulohumeral muscular dystrophy
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03036 Chromosome and associated proteins [BR:hsa03036]
    23347 (SMCHD1)
   03400 DNA repair and recombination proteins [BR:hsa03400]
    23347 (SMCHD1)
Chromosome and associated proteins [BR:hsa03036]
 Eukaryotic type
  Heterochromatin formation proteins
   Other heterochromatin formation proteins
    23347 (SMCHD1)
DNA repair and recombination proteins [BR:hsa03400]
 Eukaryotic type
  DSBR (double strand breaks repair)
   NHEJ (non-homologous end-joining)
    Other NHEJ factors
     23347 (SMCHD1)
SSDB
Motif
Pfam: SMC_hinge HATPase_c_3 HATPase_c
Other DBs
NCBI-GeneID: 23347
NCBI-ProteinID: NP_056110
OMIM: 614982
HGNC: 29090
Ensembl: ENSG00000101596
UniProt: A6NHR9
Structure
Position
18:2655726..2805017
AA seq 2005 aa
MAAADGGGPGGASVGTEEDGGGVGHRTVYLFDRREKESELGDRPLQVGERSDYAGFRACV
CQTLGISPEEKFVITTTSRKEITCDNFDETVKDGVTLYLLQSVNQLLLTATKERIDFLPH
YDTLVKSGMYEYYASEGQNPLPFALAELIDNSLSATSRNIGVRRIQIKLLFDETQGKPAV
AVIDNGRGMTSKQLNNWAVYRLSKFTRQGDFESDHSGYVRPVPVPRSLNSDISYFGVGGK
QAVFFVGQSARMISKPADSQDVHELVLSKEDFEKKEKNKEAIYSGYIRNRKPSDSVHITN
DDERFLHHLIIEEKEKDSFTAVVITGVQPEHIQYLKNYFHLWTRQLAHIYHYYIHGPKGN
EIRTSKEVEPFNNIDIEISMFEKGKVPKIVNLREIQDDMQTLYVNTAADSFEFKAHVEGD
GVVEGIIRYHPFLYDRETYPDDPCFPSKLKDEDDEDDCFILEKAARGKRPIFECFWNGRL
IPYTSVEDFDWCTPPKKRGLAPIECYNRISGALFTNDKFQVSTNKLTFMDLELKLKDKNT
LFTRILNGQEQRMKIDREFALWLKDCHEKYDKQIKFTLFKGVITRPDLPSKKQGPWATYA
AIEWDGKIYKAGQLVKTIKTLPLFYGSIVRFFLYGDHDGEVYATGGEVQIAMEPQALYDE
VRTVPIAKLDRTVAEKAVKKYVEDEMARLPDRLSVTWPEGDELLPNEVRPAGTPIGALRI
EILNKKGEAMQKLPGTSHGGSKKLLVELKVILHSSSGNKEIISHISQHGGKWPYWFKKME
NIQKLGNYTLKLQVVLNESNADTYAGRPLPSKAIKFSVKEGKPEKFSFGLLDLPFRVGVP
FNIPLEFQDEFGHTSQLVTDIQPVLEASGLSLHYEEITKGPNCVIRGVTAKGPVNSCQGK
NYNLKVTLPGLKEDSQILKIRLLPGHPRRLKVKPDSEILVIENGTAFPFQVEVLDESDNI
TAQPKLIVHCKFSGAPNLPVYVVDCSSSGTSILTGSAIQVQNIKKDQTLKARIEIPSCKD
VAPVEKTIKLLPSSHVARLQIFSVEGQKAIQIKHQDEVNWIAGDIMHNLIFQMYDEGERE
INITSALAEKIKVNWTPEINKEHLLQGLLPDVQVPTSVKDMRYCQVSFQDDHVSLESAFT
VRPLPDEPKHLKCEMKGGKTVQMGQELQGEVVIIITDQYGNQIQAFSPSSLSSLSIAGVG
LDSSNLKTTFQENTQSISVRGIKFIPGPPGNKDLCFTWREFSDFIRVQLISGPPAKLLLI
DWPELKESIPVINGRDLQNPIIVQLCDQWDNPAPVQHVKISLTKASNLKLMPSNQQHKTD
EKGRANLGVFSVFAPRGEHTLQVKAIYNKSIIEGPIIKLMILPDPEKPVRLNVKYDKDAS
FLAGGLFTDFMISVISEDDSIIKNINPARISMKMWKLSTSGNRPPANAETFSCNKIKDND
KEDGCFYFRDKVIPNKVGTYCIQFGFMMDKTNILNSEQVIVEVLPNQPVKLVPKIKPPTP
AVSNVRSVASRTLVRDLHLSITDDYDNHTGIDLVGTIIATIKGSNEEDTDTPLFIGKVRT
LEFPFVNGSAEIMSLVLAESSPGRDSTEYFIVFEPRLPLLSRTLEPYILPFMFYNDVKKQ
QQMAALTKEKDQLSQSIVMYKSLFEASQQLLNEMKCQVEEARLKEAQLRNELKIHNIDIP
TTQQVPHIEALLKRKLSEQEELKKKPRRSCTLPNYTKGSGDVLGKIAHLAQIEDDRAAMV
ISWHLASDMDCVVTLTTDAARRIYDETQGRQQVLPLDSIYKKTLPDWKRSLPHFRNGKLY
FKPIGDPVFARDLLTFPDNVEHCETVFGMLLGDTIILDNLDAANHYRKEVVKITHCPTLL
TRDGDRIRSNGKFGGLQNKAPPMDKLRGMVFGAPVPKQCLILGEQIDLLQQYRSAVCKLD
SVNKDLNSQLEYLRTPDMRKKKQELDEHEKNLKLIEEKLGMTPIRKCNDSLRHSPKVETT
DCPVPPKRMRREATRQNRIITKTDV
NT seq 6018 nt   +upstreamnt  +downstreamnt
atggcagcggcggacggcggcgggcctggtggggcctctgtggggactgaggaggatggc
ggaggcgtcggccacaggacggtgtacttgtttgatcggcgcgaaaaggagtccgagctc
ggggaccggcctctgcaggtcggggagcgctcggactacgcgggatttcgcgcgtgtgtg
tgtcagacacttggcatttcacctgaagaaaaatttgttattacaacaacaagtaggaaa
gaaattacctgtgataattttgatgaaactgttaaagatggagtcaccttatacctgcta
cagtcggtcaatcagttactactgacagctacgaaagaacgaattgacttcttacctcac
tatgacacactggttaaaagtggcatgtatgaatattatgccagtgaaggacaaaatcct
ttgccatttgctcttgcggaattaattgacaattcattgtctgctacttctcgtaacatt
ggggttagaagaatacagatcaaattgctttttgatgaaacacaaggaaaacctgctgtt
gcagtgatagataatggaagaggaatgacctctaaacagcttaacaactgggccgtgtat
aggttgtcaaaattcacaaggcaaggtgactttgaaagtgatcattcaggatatgttcgt
ccagtaccagtgccacgcagtttaaatagtgatatttcctattttggtgttgggggcaag
caagctgtcttctttgttggacaatcagccagaatgataagcaaacctgcagattcccaa
gatgttcacgagcttgtgctttctaaagaagattttgagaagaaggagaaaaataaagag
gcaatatatagtggatatattagaaacagaaagccctctgattctgttcacattacaaat
gatgatgaaagatttctacatcatcttatcatagaggagaaggaaaaagatagctttact
gctgtggttatcacaggggtacaaccagaacacatacagtacttgaaaaattatttccac
ctttggacacgacagttagcgcatatttatcactactatattcatggcccaaaaggaaat
gaaatacgaacatcaaaagaagttgaacctttcaacaatattgatattgaaatttctatg
tttgaaaaagggaaggtacctaagattgtcaacctaagggaaatacaagacgacatgcag
acgttgtatgtaaacacagcagctgatagttttgaattcaaagctcatgttgaaggagat
ggtgtagtggaagggattatccgttatcatccattcttatatgatagagaaacttaccct
gatgatccatgctttccatcaaaattaaaagatgaagatgatgaagatgattgtttcata
cttgagaaagcagctagagggaaaaggcctatttttgaatgtttttggaatggacgatta
ataccatatacatcagttgaagactttgactggtgtactcctcctaagaagagagggctt
gcaccaattgaatgctacaataggatatctggtgcattattcactaatgacaaattccag
gtcagcacaaataaattgacgtttatggatcttgagctaaaattgaaagataagaacacc
ctttttacaaggattttaaatggacaggaacagcgaatgaaaattgacagagaatttgct
ttgtggctgaaggactgtcatgagaagtatgataaacaaataaaatttacactttttaag
ggagtaattacacgtcctgatcttccttctaaaaagcaaggtccctgggcaacatatgca
gcaatagaatgggatggaaagatatacaaagcaggacagctggtcaagacaatcaagaca
cttcccctcttttatggaagcatagtaagattttttctttatggcgatcatgatggagaa
gtatatgctacaggaggagaggttcaaattgcaatggaacctcaggcactatatgatgaa
gtaagaactgtgccaattgcaaagctggataggacagttgctgagaaagctgttaaaaaa
tatgtagaagatgaaatggcaaggctccctgatagattgtcagtaacttggcctgaagga
gatgaattattgcctaatgaggttaggcctgctggaacccctattggtgcgttaagaatt
gaaatactgaataaaaaaggggaagcaatgcaaaagcttccaggaacaagccatggaggg
tcaaagaaactcctggttgagctcaaagttattttacattcttcaagtggaaataaagag
attatttcgcatattagtcaacatggaggaaaatggccttactggtttaaaaaaatggaa
aatattcagaagttggggaattataccttgaaattacaagttgtgttgaatgaaagtaat
gcagacacttatgcaggaagaccactaccatctaaagcaattaagttttctgttaaagag
ggtaagccagagaaattttcatttggtcttctggatcttccttttcgtgttggagttcca
tttaatatccctctggagtttcaggatgaatttggtcataccagtcaactagtaactgat
attcagccagttcttgaagcaagtggtttatctttacattatgaagaaataaccaaagga
ccaaattgtgtaattcgaggtgttacagccaagggccctgtaaactcttgtcaaggcaag
aattataatctgaaggttactctgcctggcttaaaagaagactcacagattttgaaaatt
agattactacctggtcaccctcgtcgactgaaagtgaaacctgattctgaaattttagtt
atagaaaatggaacagctttcccatttcaggtggaagttttagatgaatcagacaacata
acagcacaaccaaaattgattgttcattgtaagttttcaggtgctccaaaccttccagtc
tatgttgtagattgcagtagttctggaaccagtattttaacaggatctgcaattcaagtt
cagaatattaaaaaagaccagacgcttaaagcaagaattgaaatacctagttgtaaagat
gtggcacctgtggagaagactattaagttgcttcccagtagccatgttgcaagactacaa
atattcagtgtagaaggacaaaaggcaattcagatcaaacatcaggatgaggttaattgg
atagcgggtgatattatgcataatcttatttttcaaatgtatgatgaaggagaaagagaa
atcaatataacatcagctttagcagaaaaaattaaagttaattggactcctgagattaac
aaagaacacttgctacagggtctgcttcctgatgtgcaagtaccaacatctgtaaaagat
atgcgctattgccaggtttcattccaagatgatcatgtgtctttggaaagtgcgtttaca
gtaagaccacttcctgatgaacctaaacatttaaaatgtgaaatgaaaggaggaaaaaca
gtacagatgggccaagagcttcaaggagaagtagttataataattacagatcagtacgga
aatcagattcaagcattttcaccaagttctttatcttctttgtcaattgctggggttgga
cttgatagctcaaatttgaaaacaacctttcaggaaaacacacagagtataagtgtaaga
ggcatcaaatttattccaggtcctcctggaaataaggatctttgttttacttggcgtgag
ttttctgactttattcgagtgcaactaatttctggacctcctgctaaacttctccttata
gactggccagaactaaaggagtccattccagtgattaatggaagagatttacagaaccct
attattgttcaactttgtgatcagtgggataatccagcaccggtacaacatgttaaaata
agtcttacaaaagctagcaatttaaagctcatgccttcaaaccaacagcataaaacagat
gagaaaggcagggctaatttgggagtattcagtgtttttgcccctaggggagagcatact
cttcaggttaaagccatctataacaaaagtatcatagaaggacctataattaagttaatg
attcttccagacccagaaaaacccgttcgtctcaatgttaaatatgacaaagatgcatcc
ttcttagcagggggtcttttcactgattttatgattagtgttatttctgaagatgacagt
atcattaaaaacattaatccagcacgtatttccatgaaaatgtggaagctgtctaccagt
gggaaccgacccccagcaaatgcagaaacatttagttgtaataaaataaaagataatgac
aaagaagatggctgcttctatttcagggataaagtaattcctaataaagtggggacatat
tgtatccagtttggttttatgatggataaaacaaatattctcaacagtgaacaggttata
gttgaagtcctgcctaatcaacctgtgaagttagtacctaaaattaaaccacctacacca
gctgtttcaaatgttcgctcagttgccagtaggaccttggtcagagatctacatcttagt
atcacggatgactacgacaaccatactggaattgatttggttggcactataatagccacc
attaaaggctctaatgaggaagatactgataccccactttttattgggaaagttagaaca
cttgaattccccttcgtgaatggttcggctgaaatcatgagtctggtgctggcagaaagt
agtcctggaagggatagtactgaatattttattgtatttgagccccggctaccactttta
tcaagaaccttagaaccatatatcctaccgttcatgttttacaatgatgttaagaagcag
caacaaatggcagcacttacaaaagaaaaggaccaattatctcagtctattgttatgtat
aaaagtttatttgaagccagccaacagcttcttaatgaaatgaaatgtcaagttgaagaa
gcaagattaaaagaggcccaattgcgaaatgaactaaaaatacataatattgacattcct
acaacacaacaggtgccacacattgaagcacttctgaaaagaaagctatcagaacaagaa
gaactgaagaaaaaacctagaagatcgtgtactcttccaaactatactaaaggcagtgga
gatgttttgggaaagattgcacatctagcacaaattgaagatgatagagctgcgatggtt
atttcttggcatctggcaagtgacatggactgtgtagtcaccctaaccactgacgctgca
cgtcgtatctatgatgaaacccaaggtcgtcagcaggtgttgccccttgattctatttac
aagaagactcttccagattggaaaagatctctacctcatttccgaaatggaaaattgtat
tttaaacccattggagatccagtctttgctcgagacttgttaacatttccagataatgta
gaacattgtgaaacagtatttggtatgctgttaggagacaccattattttggataatctg
gatgcggccaatcattatagaaaagaggttgttaaaattacacactgtcctacactgctg
accagagatggagatcgaattcgaagtaatggaaagtttgggggccttcagaataaagct
cctccaatggataaacttcggggaatggtatttggagctccagttccaaaacagtgtctg
atcttaggggaacaaatagatcttcttcagcagtatcgttctgctgtgtgcaaactagac
agtgtgaataaggatcttaacagtcaattagagtaccttcgcactccggatatgaggaag
aaaaagcaagaacttgatgaacatgagaaaaatctcaaactaatagaggaaaaactaggt
atgactcccatacgtaagtgtaatgactcattgcgtcattcaccaaaggttgagacgaca
gattgtccagttcctcctaaaagaatgagacgagaagctacaagacaaaataggattata
accaaaacagatgtatga

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