Homo sapiens (human): 23347
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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)
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
SMCHD1_S5
Ig_SMCHD1_5th
Ig_SMCHD1_1st
Ig_SMCHD1_8th
Ig_SMCHD1_2nd
Ig_SMCHD1_6th
Ig_SMCHD1_7th
Ig_SMCHD1_4th
SMC_hinge
HATPase_c_3
HATPase_c
Motif
Other DBs
NCBI-GeneID:
23347
NCBI-ProteinID:
NP_056110
OMIM:
614982
HGNC:
29090
Ensembl:
ENSG00000101596
UniProt:
A6NHR9
Structure
PDB
PDBj
LinkDB
All DBs
Position
18:2655726..2805017
Genome browser
AA seq
2005 aa
AA seq
DB search
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
NT seq
+upstream
nt +downstream
nt
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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integrated database retrieval system
