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

Gene name
SMC1A, CDLS2, DXS423E, SB1.8, SMC1, SMC1L1, SMC1alpha, SMCB
Definition
(RefSeq) structural maintenance of chromosomes 1A
  KO
K06636  structural maintenance of chromosome 1
Organism
hsa  Homo sapiens (human)
Pathway
hsa04110  Cell cycle
hsa04114  Oocyte meiosis
Disease
H00631  Cornelia de Lange syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09143 Cell growth and death
   04110 Cell cycle
    8243 (SMC1A)
   04114 Oocyte meiosis
    8243 (SMC1A)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03036 Chromosome and associated proteins [BR:hsa03036]
    8243 (SMC1A)
Chromosome and associated proteins [BR:hsa03036]
 Eukaryotic Type
  Sister chromatid cohesion proteins
   Cohesin complex
    8243 (SMC1A)
  Meiosis-specific sister chromatid cohesion proteins
    8243 (SMC1A)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: SMC_N SMC_hinge AAA_21 AAA_23 AAA_15 AAA_29 ABC_tran SbcCD_C
Motif
Other DBs
NCBI-GeneID: 8243
NCBI-ProteinID: NP_006297
OMIM: 300040
HGNC: 11111
Ensembl: ENSG00000072501
Vega: OTTHUMG00000021614
Pharos: Q14683(Tbio)
UniProt: Q14683 A0A384MR33 Q68EN4
Position
Xp11.22
AA seq 1233 aa AA seqDB search
MGFLKLIEIENFKSYKGRQIIGPFQRFTAIIGPNGSGKSNLMDAISFVLGEKTSNLRVKT
LRDLIHGAPVGKPAANRAFVSMVYSEEGAEDRTFARVIVGGSSEYKINNKVVQLHEYSEE
LEKLGILIKARNFLVFQGAVESIAMKNPKERTALFEEISRSGELAQEYDKRKKEMVKAEE
DTQFNYHRKKNIAAERKEAKQEKEEADRYQRLKDEVVRAQVQLQLFKLYHNEVEIEKLNK
ELASKNKEIEKDKKRMDKVEDELKEKKKELGKMMREQQQIEKEIKEKDSELNQKRPQYIK
AKENTSHKIKKLEAAKKSLQNAQKHYKKRKGDMDELEKEMLSVEKARQEFEERMEEESQS
QGRDLTLEENQVKKYHRLKEEASKRAATLAQELEKFNRDQKADQDRLDLEERKKVETEAK
IKQKLREIEENQKRIEKLEEYITTSKQSLEEQKKLEGELTEEVEMAKRRIDEINKELNQV
MEQLGDARIDRQESSRQQRKAEIMESIKRLYPGSVYGRLIDLCQPTQKKYQIAVTKVLGK
NMDAIIVDSEKTGRDCIQYIKEQRGEPETFLPLDYLEVKPTDEKLRELKGAKLVIDVIRY
EPPHIKKALQYACGNALVCDNVEDARRIAFGGHQRHKTVALDGTLFQKSGVISGGASDLK
AKARRWDEKAVDKLKEKKERLTEELKEQMKAKRKEAELRQVQSQAHGLQMRLKYSQSDLE
QTKTRHLALNLQEKSKLESELANFGPRINDIKRIIQSREREMKDLKEKMNQVEDEVFEEF
CREIGVRNIREFEEEKVKRQNEIAKKRLEFENQKTRLGIQLDFEKNQLKEDQDKVHMWEQ
TVKKDENEIEKLKKEEQRHMKIIDETMAQLQDLKNQHLAKKSEVNDKNHEMEEIRKKLGG
ANKEMTHLQKEVTAIETKLEQKRSDRHNLLQACKMQDIKLPLSKGTMDDISQEEGSSQGE
DSVSGSQRISSIYAREALIEIDYGDLCEDLKDAQAEEEIKQEMNTLQQKLNEQQSVLQRI
AAPNMKAMEKLESVRDKFQETSDEFEAARKRAKKAKQAFEQIKKERFDRFNACFESVATN
IDEIYKALSRNSSAQAFLGPENPEEPYLDGINYNCVAPGKRFRPMDNLSGGEKTVAALAL
LFAIHSYKPAPFFVLDEIDAALDNTNIGKVANYIKEQSTCNFQAIVISLKEEFYTKAESL
IGVYPEQGDCVISKVLTFDLTKYPDANPNPNEQ
NT seq 3702 nt NT seq  +upstreamnt  +downstreamnt
atggggttcctgaaactgattgagattgagaactttaagtcgtacaagggtcgacagatt
atcggaccatttcagaggttcaccgccatcattggacccaatggctctggtaagtcaaat
ctcatggatgccatcagctttgtgctaggtgaaaaaaccagcaacctgcgggtaaagacc
ctgcgggacctgatccatggagctcctgtgggcaagccagctgccaaccgggcctttgtc
agcatggtctactctgaggagggtgctgaggaccgtacctttgcccgtgtcattgtagga
ggttcttctgagtacaagatcaacaacaaagtggtccaactacatgagtacagtgaggaa
ttagagaagttgggcattctcatcaaagctcgtaacttcctcgttttccagggtgctgtg
gaatctattgccatgaagaaccccaaagagaggacagctctatttgaagagattagtcgt
tctggggagctggcgcaggagtatgacaagcgaaagaaggaaatggtgaaggctgaagag
gacacacagtttaattaccatcgcaagaaaaatattgcggctgaacgcaaggaagcaaag
caggagaaagaagaggctgaccggtaccagcgcctgaaggatgaggtagtacgggctcag
gtacagctgcagctctttaagctttaccataatgaagtggaaattgagaagctcaacaag
gaactggcctcaaagaacaaggagatcgagaaggacaagaagcgtatggacaaggtggag
gatgaactgaaggagaagaagaaggagctgggcaaaatgatgcgggagcagcagcagatt
gagaaggagatcaaggagaaggactcagaattgaaccagaagcggcctcagtacatcaaa
gccaaggagaacacctcccacaaaatcaagaagctggaagcagccaagaagtctctgcag
aatgctcagaagcactacaagaagcgtaaaggtgacatggatgagctggagaaggagatg
ctgtcagtggagaaggctcggcaggagtttgaagaacggatggaagaagagagtcagagt
cagggcagagatttgacgttggaggagaatcaggtgaagaaataccaccggttgaaagaa
gaagccagcaagagagcagctaccctggcccaggagctggagaaattcaatcgagaccag
aaagctgaccaggaccgtctggatctggaagaacggaagaaagtagagacagaggccaag
atcaagcaaaagctgcgggaaattgaagagaatcagaagcggattgagaaactggaggaa
tacatcaccactagcaagcagtccctagaagagcagaagaagctagagggggagctgaca
gaggaggtggagatggccaagcggcgtattgatgaaatcaataaggagctgaaccaggtg
atggagcagctaggggatgcccgcatcgaccgccaggagagcagccgccagcagcgaaag
gcagagataatggaaagcatcaagcgcctttaccctggctctgtgtacggccgcctcatt
gacctatgccagcccacacaaaagaagtatcagattgctgtaaccaaggttttgggcaag
aacatggatgccattattgtggactcggagaagacaggccgggactgtattcagtatatc
aaggagcagcgtggggagcctgagaccttcttgcctcttgactacctggaggtgaagcct
acagatgagaaactccgggagctgaagggggccaagctagtgattgatgtgattcgctat
gagccacctcatatcaaaaaggccctgcagtatgcttgtggcaatgcccttgtctgtgac
aacgtggaagatgcccgccgcattgcctttggaggccaccagcgccacaagacagtggca
ctggatggaaccctattccagaagtcaggagtgatctctggtggggccagtgacctgaag
gccaaggcacggcgctgggatgagaaagcagtagacaagttgaaagagaagaaggagcgc
ttgacagaggagctgaaagagcagatgaaggcaaaacggaaagaggcagagctgcgtcag
gtgcagtctcaggcccatggactgcagatgcggctcaagtactcccagagtgacctagaa
cagaccaagacacgacatctagccctgaatctgcaggaaaaatccaagctggagagtgag
ctagccaactttgggcctcgcattaatgatatcaagaggatcattcagagccgagagagg
gaaatgaaagacttgaaggagaagatgaaccaggtagaggatgaggtgtttgaagagttt
tgtcgggagattggtgtgcgcaacatccgggagtttgaggaagaaaaggtgaaacggcag
aatgaaatcgccaagaagcgtttggagtttgagaatcagaagactcgcttgggcattcag
ttggattttgaaaagaaccaactgaaggaggaccaagataaagtacacatgtgggagcag
acagtgaaaaaagatgaaaatgagatagaaaagctcaaaaaggaggaacaaagacacatg
aagatcatagatgagaccatggctcagctacaagacctgaagaatcagcatctggccaag
aagtcggaagtgaatgacaagaatcatgagatggaggagattcgtaagaaactcgggggc
gccaacaaggaaatgacccatttacagaaggaggtgacagccattgagaccaagcttgaa
cagaagcgcagtgaccgtcacaacttgctacaggcctgtaagatgcaggacattaagttg
ccactgtcaaaaggcaccatggatgatattagtcaggaagagggtagctcccagggggag
gactcagtgagtggttcacagagaatttccagtatctatgcacgagaggccctcattgag
attgactacggtgatctgtgtgaggatctgaaggatgcccaggctgaggaagagatcaag
caagagatgaacacactgcagcagaagctgaatgagcagcagagtgtgcttcagcgtatt
gccgcccccaacatgaaggccatggaaaagctggaaagtgtccgagacaagttccaggag
acctcagatgagtttgaagcagcccgaaagcgagcaaagaaggccaagcaggcattcgaa
cagatcaagaaggagcgctttgaccgcttcaatgcttgttttgaatctgtggctaccaac
attgatgagatctataaggccctgtcccgcaatagcagtgcccaggcattcctgggccct
gagaaccctgaagagccctacttggatggcatcaactacaactgtgtggctcctgggaaa
cgcttccggcctatggacaacttgtcaggcggggagaagacagtggcagctctggccctg
ctctttgccatccacagctacaagccagcccccttcttcgtcctggatgagattgatgct
gccttggataacaccaacattggcaaggtggcaaattacatcaaggagcagtcgacttgc
aacttccaggccatcgtcatctctctcaaggaggagttctacaccaaggccgagagcctc
attggagtctatcctgagcaaggggactgtgtgatcagcaaagtcctgaccttcgacctc
accaagtacccagatgccaaccccaaccccaatgagcagtag

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