KEGG   Homo sapiens (human): 8243Help
Entry
8243              CDS       T01001                                 

Gene name
SMC1A, CDLS2, DXS423E, SB1.8, SMC1, SMC1L1, SMC1alpha, SMCB
Definition
structural maintenance of chromosomes 1A
Orthology
K06636  
structural maintenance of chromosome 1
Organism
hsa  Homo sapiens (human)
Pathway
Cell cycle
Oocyte meiosis
Disease
H00631  
Cornelia de Lange syndrome (CdLS)
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Cellular Processes
  Cell growth and death
   04110 Cell cycle
    8243 (SMC1A)
   04114 Oocyte meiosis
    8243 (SMC1A)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif Motif
Other DBs
NCBI-GI: 
NCBI-GeneID: 
OMIM: 
HGNC: 
HPRD: 
Ensembl: 
Vega: 
UniProt: 
Position
Xp11.22-p11.21
AA seq 1211 aa AA seqDB search
MLEVSIPTPHRYVRGKSNLMDAISFVLGEKTSNLRVKTLRDLIHGAPVGKPAANRAFVSM
VYSEEGAEDRTFARVIVGGSSEYKINNKVVQLHEYSEELEKLGILIKARNFLVFQGAVES
IAMKNPKERTALFEEISRSGELAQEYDKRKKEMVKAEEDTQFNYHRKKNIAAERKEAKQE
KEEADRYQRLKDEVVRAQVQLQLFKLYHNEVEIEKLNKELASKNKEIEKDKKRMDKVEDE
LKEKKKELGKMMREQQQIEKEIKEKDSELNQKRPQYIKAKENTSHKIKKLEAAKKSLQNA
QKHYKKRKGDMDELEKEMLSVEKARQEFEERMEEESQSQGRDLTLEENQVKKYHRLKEEA
SKRAATLAQELEKFNRDQKADQDRLDLEERKKVETEAKIKQKLREIEENQKRIEKLEEYI
TTSKQSLEEQKKLEGELTEEVEMAKRRIDEINKELNQVMEQLGDARIDRQESSRQQRKAE
IMESIKRLYPGSVYGRLIDLCQPTQKKYQIAVTKVLGKNMDAIIVDSEKTGRDCIQYIKE
QRGEPETFLPLDYLEVKPTDEKLRELKGAKLVIDVIRYEPPHIKKALQYACGNALVCDNV
EDARRIAFGGHQRHKTVALDGTLFQKSGVISGGASDLKAKARRWDEKAVDKLKEKKERLT
EELKEQMKAKRKEAELRQVQSQAHGLQMRLKYSQSDLEQTKTRHLALNLQEKSKLESELA
NFGPRINDIKRIIQSREREMKDLKEKMNQVEDEVFEEFCREIGVRNIREFEEEKVKRQNE
IAKKRLEFENQKTRLGIQLDFEKNQLKEDQDKVHMWEQTVKKDENEIEKLKKEEQRHMKI
IDETMAQLQDLKNQHLAKKSEVNDKNHEMEEIRKKLGGANKEMTHLQKEVTAIETKLEQK
RSDRHNLLQACKMQDIKLPLSKGTMDDISQEEGSSQGEDSVSGSQRISSIYAREALIEID
YGDLCEDLKDAQAEEEIKQEMNTLQQKLNEQQSVLQRIAAPNMKAMEKLESVRDKFQETS
DEFEAARKRAKKAKQAFEQIKKERFDRFNACFESVATNIDEIYKALSRNSSAQAFLGPEN
PEEPYLDGINYNCVAPGKRFRPMDNLSGGEKTVAALALLFAIHSYKPAPFFVLDEIDAAL
DNTNIGKVANYIKEQSTCNFQAIVISLKEEFYTKAESLIGVYPEQGDCVISKVLTFDLTK
YPDANPNPNEQ
NT seq 3636 nt NT seq  +upstreamnt  +downstreamnt
atgcttgaggtgtcgatccccaccccccaccgctatgtcagaggtaagtcaaatctcatg
gatgccatcagctttgtgctaggtgaaaaaaccagcaacctgcgggtaaagaccctgcgg
gacctgatccatggagctcctgtgggcaagccagctgccaaccgggcctttgtcagcatg
gtctactctgaggagggtgctgaggaccgtacctttgcccgtgtcattgtaggaggttct
tctgagtacaagatcaacaacaaagtggtccaactacatgagtacagtgaggaattagag
aagttgggcattctcatcaaagctcgtaacttcctcgttttccagggtgctgtggaatct
attgccatgaagaaccccaaagagaggacagctctatttgaagagattagtcgttctggg
gagctggcgcaggagtatgacaagcgaaagaaggaaatggtgaaggctgaagaggacaca
cagtttaattaccatcgcaagaaaaatattgcggctgaacgcaaggaagcaaagcaggag
aaagaagaggctgaccggtaccagcgcctgaaggatgaggtagtacgggctcaggtacag
ctgcagctctttaagctttaccataatgaagtggaaattgagaagctcaacaaggaactg
gcctcaaagaacaaggagatcgagaaggacaagaagcgtatggacaaggtggaggatgaa
ctgaaggagaagaagaaggagctgggcaaaatgatgcgggagcagcagcagattgagaag
gagatcaaggagaaggactcagaattgaaccagaagcggcctcagtacatcaaagccaag
gagaacacctcccacaaaatcaagaagctggaagcagccaagaagtctctgcagaatgct
cagaagcactacaagaagcgtaaaggtgacatggatgagctggagaaggagatgctgtca
gtggagaaggctcggcaggagtttgaagaacggatggaagaagagagtcagagtcagggc
agagatttgacgttggaggagaatcaggtgaagaaataccaccggttgaaagaagaagcc
agcaagagagcagctaccctggcccaggagctggagaaattcaatcgagaccagaaagct
gaccaggaccgtctggatctggaagaacggaagaaagtagagacagaggccaagatcaag
caaaagctgcgggaaattgaagagaatcagaagcggattgagaaactggaggaatacatc
accactagcaagcagtccctagaagagcagaagaagctagagggggagctgacagaggag
gtggagatggccaagcggcgtattgatgaaatcaataaggagctgaaccaggtgatggag
cagctaggggatgcccgcatcgaccgccaggagagcagccgccagcagcgaaaggcagag
ataatggaaagcatcaagcgcctttaccctggctctgtgtacggccgcctcattgaccta
tgccagcccacacaaaagaagtatcagattgctgtaaccaaggttttgggcaagaacatg
gatgccattattgtggactcggagaagacaggccgggactgtattcagtatatcaaggag
cagcgtggggagcctgagaccttcttgcctcttgactacctggaggtgaagcctacagat
gagaaactccgggagctgaagggggccaagctagtgattgatgtgattcgctatgagcca
cctcatatcaaaaaggccctgcagtatgcttgtggcaatgcccttgtctgtgacaacgtg
gaagatgcccgccgcattgcctttggaggccaccagcgccacaagacagtggcactggat
ggaaccctattccagaagtcaggagtgatctctggtggggccagtgacctgaaggccaag
gcacggcgctgggatgagaaagcagtagacaagttgaaagagaagaaggagcgcttgaca
gaggagctgaaagagcagatgaaggcaaaacggaaagaggcagagctgcgtcaggtgcag
tctcaggcccatggactgcagatgcggctcaagtactcccagagtgacctagaacagacc
aagacacgacatctagccctgaatctgcaggaaaaatccaagctggagagtgagctagcc
aactttgggcctcgcattaatgatatcaagaggatcattcagagccgagagagggaaatg
aaagacttgaaggagaagatgaaccaggtagaggatgaggtgtttgaagagttttgtcgg
gagattggtgtgcgcaacatccgggagtttgaggaagaaaaggtgaaacggcagaatgaa
atcgccaagaagcgtttggagtttgagaatcagaagactcgcttgggcattcagttggat
tttgaaaagaaccaactgaaggaggaccaagataaagtacacatgtgggagcagacagtg
aaaaaagatgaaaatgagatagaaaagctcaaaaaggaggaacaaagacacatgaagatc
atagatgagaccatggctcagctacaagacctgaagaatcagcatctggccaagaagtcg
gaagtgaatgacaagaatcatgagatggaggagattcgtaagaaactcgggggcgccaac
aaggaaatgacccatttacagaaggaggtgacagccattgagaccaagcttgaacagaag
cgcagtgaccgtcacaacttgctacaggcctgtaagatgcaggacattaagttgccactg
tcaaaaggcaccatggatgatattagtcaggaagagggtagctcccagggggaggactca
gtgagtggttcacagagaatttccagtatctatgcacgagaggccctcattgagattgac
tacggtgatctgtgtgaggatctgaaggatgcccaggctgaggaagagatcaagcaagag
atgaacacactgcagcagaagctgaatgagcagcagagtgtgcttcagcgtattgccgcc
cccaacatgaaggccatggaaaagctggaaagtgtccgagacaagttccaggagacctca
gatgagtttgaagcagcccgaaagcgagcaaagaaggccaagcaggcattcgaacagatc
aagaaggagcgctttgaccgcttcaatgcttgttttgaatctgtggctaccaacattgat
gagatctataaggccctgtcccgcaatagcagtgcccaggcattcctgggccctgagaac
cctgaagagccctacttggatggcatcaactacaactgtgtggctcctgggaaacgcttc
cggcctatggacaacttgtcaggcggggagaagacagtggcagctctggccctgctcttt
gccatccacagctacaagccagcccccttcttcgtcctggatgagattgatgctgccttg
gataacaccaacattggcaaggtggcaaattacatcaaggagcagtcgacttgcaacttc
caggccatcgtcatctctctcaaggaggagttctacaccaaggccgagagcctcattgga
gtctatcctgagcaaggggactgtgtgatcagcaaagtcctgaccttcgacctcaccaag
tacccagatgccaaccccaaccccaatgagcagtag

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