KEGG   Homo sapiens (human): 27127
Entry
27127             CDS       T01001                                 
Symbol
SMC1B, SMC1BETA, SMC1L2
Name
(RefSeq) structural maintenance of chromosomes 1B
  KO
K06636  structural maintenance of chromosome 1
Organism
hsa  Homo sapiens (human)
Pathway
hsa04110  Cell cycle
hsa04114  Oocyte meiosis
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09143 Cell growth and death
   04110 Cell cycle
    27127 (SMC1B)
   04114 Oocyte meiosis
    27127 (SMC1B)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03036 Chromosome and associated proteins [BR:hsa03036]
    27127 (SMC1B)
Chromosome and associated proteins [BR:hsa03036]
 Eukaryotic type
  Sister chromatid cohesion proteins
   Cohesin complex
    27127 (SMC1B)
  Meiosis-specific proteins
   Cohesin complex and associated proteins
    27127 (SMC1B)
SSDB
Motif
Pfam: SMC_N SMC_hinge AAA_21 AAA_15 AAA_29 AAA_23 ABC_tran
Other DBs
NCBI-GeneID: 27127
NCBI-ProteinID: NP_683515
OMIM: 608685
HGNC: 11112
Ensembl: ENSG00000077935
UniProt: Q8NDV3
LinkDB
Position
22:complement(45344063..45413599)
AA seq 1235 aa
MAHLELLLVENFKSWRGRQVIGPFRRFTCIIGPNGSGKSNVMDALSFVMGEKIANLRVKN
IQELIHGAHIGKPISSSASVKIIYVEESGEEKTFARIIRGGCSEFRFNDNLVSRSVYIAE
LEKIGIIVKAQNCLVFQGTVESISVKKPKERTQFFEEISTSGELIGEYEEKKRKLQKAEE
DAQFNFNKKKNIAAERRQAKLEKEEAERYQSLLEELKMNKIQLQLFQLYHNEKKIHLLNT
KLEHVNRDLSVKRESLSHHENIVKARKKEHGMLTRQLQQTEKELKSVETLLNQKRPQYIK
AKENTSHHLKKLDVAKKSIKDSEKQCSKQEDDIKALETELADLDAAWRSFEKQIEEEILH
KKRDIELEASQLDRYKELKEQVRKKVATMTQQLEKLQWEQKTDEERLAFEKRRHGEVQGN
LKQIKEQIEDHKKRIEKLEEYTKTCMDCLKEKKQQEETLVDEIEKTKSRMSEVNEELNLI
RSELQNAGIDTHEGKRQQKRAEVLEHLKRLYPDSVFGRLFDLCHPIHKKYQLAVTKVFGR
FITAIVVASEKVAKDCIRFLKEERAEPETFLALDYLDIKPINERLRELKGCKMVIDVIKT
QFPQLKKVIQFVCGNGLVCETMEEARHIALSGPERQKTVALDGTLFLKSGVISGGSSDLK
YKARCWDEKELKNLRDRRSQKIQELKGLMKTLRKETDLKQIQTLIQGTQTRLKYSQNELE
MIKKKHLVAFYQEQSQLQSELLNIESQCIMLSEGIKERQRRIKEFQEKIDKVEDDIFQHF
CEEIGVENIREFENKHVKRQQEIDQKRLEFEKQKTRLNVQLEYSRSHLKKKLNKINTLKE
TIQKGSEDIDHLKKAEENCLQTVNELMAKQQQLKDIRVTQNSSAEKVQTQIEEERKKFLA
VDREVGKLQKEVVSIQTSLEQKRLEKHNLLLDCKVQDIEIILLSGSLDDIIEVEMGTEAE
STQATIDIYEKEEAFEIDYSSLKEDLKALQSDQEIEAHLRLLLQQVASQEDILLKTAAPN
LRALENLKTVRDKFQESTDAFEASRKEARLCRQEFEQVKKRRYDLFTQCFEHVSISIDQI
YKKLCRNNSAQAFLSPENPEEPYLEGISYNCVAPGKRFMPMDNLSGGEKCVAALALLFAV
HSFRPAPFFVLDEVDAALDNTNIGKVSSYIKEQTQDQFQMIVISLKEEFYSRADALIGIY
PEYDDCMFSRVLTLDLSQYPDTEGQESSKRHGESR
NT seq 3708 nt   +upstreamnt  +downstreamnt
atggcccacctggagctgctgcttgtggaaaatttcaagtcgtggcggggccgccaggtc
attggccccttccggaggttcacctgcatcatcggccccaacggctctggaaaatctaat
gtaatggatgcacttagttttgtaatgggagagaaaatagctaatttaagagtgaaaaat
attcaagaactcattcatggagcacatattggaaaacctatttcttcttctgcaagtgta
aaaattatatatgtggaggaaagtggcgaagagaaaacatttgcaaggattatccgaggg
ggatgctcagaatttcgctttaatgataatcttgtgagtcgttctgtttacattgcagag
ttggaaaagataggcataatagtcaaagcacaaaattgtttggtttttcagggaactgta
gagtcaatttcagtgaagaaacccaaagaaaggacccagttttttgaggaaatcagcact
tcaggagagcttataggagaatatgaagaaaagaaaagaaagttacaaaaagccgaagag
gatgcacagtttaactttaataagaaaaaaaatatagcggcagagcgcagacaagcaaaa
ttagagaaggaagaggcagaacgttaccagagtctccttgaagaactgaaaatgaacaag
atacaactgcagctttttcaactataccataatgagaaaaagattcatctcctgaacacc
aagttagagcatgtgaatagggatttgagtgtcaaaagagagtctttgtctcatcatgaa
aacatagttaaagccaggaaaaaggaacatggaatgctaactagacaactacaacaaaca
gaaaaagaattaaaatcggttgaaacccttttaaatcagaagaggcctcagtacattaaa
gccaaagaaaacacttctcaccaccttaagaaattagatgtggctaagaaatcaataaag
gacagcgaaaaacaatgttctaaacaggaagatgatataaaagccctggagacagagctg
gctgatttagatgctgcatggagaagttttgaaaagcagattgaggaagaaattttacat
aaaaagcgagacattgaactggaagccagtcagctggatcgttataaagaacttaaggaa
caagtaagaaagaaagtagctacaatgactcaacaactggaaaaactgcagtgggaacag
aagacagatgaagaaagactggcatttgaaaagaggaggcatggagaagttcagggaaat
ctaaaacaaataaaagaacaaatagaagatcataaaaaacgaatagagaagttagaggag
tatacaaagacatgcatggattgcttgaaagagaaaaaacagcaagaggaaaccctagtg
gatgaaattgaaaaaacaaaatcaagaatgtctgaagttaatgaagaattgaatcttatt
agaagtgaattgcagaatgctgggattgatacccatgagggaaaacgtcagcaaaagaga
gcagaggttctggaacaccttaaaagactgtacccagattctgtgtttggaagactattt
gacctgtgtcatcctattcataagaaataccagctggctgttactaaggtttttggccgg
ttcatcactgccattgttgtagcctctgaaaaggtagcaaaagattgtattcgatttctg
aaggaggaaagagctgaacctgagacattcctcgctctagattaccttgatatcaagcca
atcaatgaaagactaagggagcttaaaggctgtaaaatggtgattgatgtcataaagact
cagtttcctcagctgaagaaagtgattcagtttgtgtgtggaaatggtcttgtttgtgag
actatggaagaagcaaggcatattgcactcagtggacctgaaagacagaaaacagtagct
cttgatggaacattatttttaaaatctggagtgatctctggagggtcaagtgacttaaaa
tacaaggctagatgctgggatgagaaagagttaaagaatctaagagacagacgaagccag
aaaatccaagagctaaagggtttaatgaagacactccgcaaagaaacagatttgaaacaa
atacagaccctgatacagggaactcaaacacgactcaaatattcacaaaatgaactagag
atgattaagaagaagcaccttgttgctttttaccaggaacaatctcagttacaaagtgaa
ctactaaatattgagtctcaatgtattatgttgagtgaaggaatcaaggaacgacaacga
agaattaaagaatttcaagaaaagatagataaggtagaagacgatatcttccaacacttc
tgtgaagaaattggcgtggaaaatattcgtgaatttgagaacaaacatgttaaacggcaa
caagaaattgatcaaaaaagattagaatttgaaaaacaaaaaactcggcttaatgttcaa
cttgagtatagtcgcagtcaccttaagaagaaactgaataagatcaacacattaaaagaa
actatccagaaaggtagtgaagatattgatcacctaaagaaggctgaagaaaactgtctg
cagacagtgaatgaactcatggcaaagcagcagcaacttaaggacatacgtgtcactcag
aactccagtgccgagaaagttcaaactcaaattgaagaggaacggaagaagtttctggct
gttgatagggaagtggggaaattgcaaaaagaagttgtaagtattcaaacttctctggaa
cagaaacgattagagaagcataacttgctgcttgattgcaaagtgcaagacattgagata
atccttttgtcggggtcactggatgacatcattgaagtggagatgggaactgaagcagaa
agtacccaggcaacaattgatatctatgaaaaagaagaagcctttgaaatagactacagc
tctctaaaagaggatttgaaggctctacagtctgatcaagaaatcgaggcccaccttagg
ctcttattgcagcaagtagcatcccaggaagatatcttactgaaaacagcagccccaaac
ctacgagcactggagaacttaaagactgtcagagacaagtttcaagagtccacagatgct
tttgaggccagcagaaaggaagccagactgtgtaggcaagagttcgagcaagtgaaaaaa
aggagatacgatcttttcacccagtgttttgagcatgtctcaatctcaattgatcaaatc
tacaagaagctctgcagaaacaacagcgcccaagcatttcttagcccagagaaccctgaa
gaaccttacttggagggaattagctataactgtgtggccccaggcaaacggtttatgcca
atggacaatttgtcagggggagaaaagtgtgtggcagccttggctctcctgtttgctgtg
cacagttttcgtcctgccccattctttgttttagatgaagtggatgcagccctagacaat
actaacataggcaaagtgtcaagttacatcaaagagcaaactcaagaccagtttcagatg
atagtcatctccctaaaagaagagttctattccagagccgacgcgctgatcggcatctat
cctgagtacgatgactgcatgttcagccgagttttgaccctagatctttctcagtatcca
gacactgaaggccaagaaagcagcaagagacacggagagtcccgctag

KEGG   Homo sapiens (human): 8243
Entry
8243              CDS       T01001                                 
Symbol
SMC1A, CDLS2, DEE85, DXS423E, EIEE85, SB1.8, SMC1, SMC1L1, SMC1alpha, SMCB
Name
(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
Network
nt06512  Chromosome cohesion and segregation
  Element
N01482  Cohesin loading
Disease
H00606  Early infantile epileptic encephalopathy
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 proteins
   Cohesin complex and associated proteins
    8243 (SMC1A)
SSDB
Motif
Pfam: SMC_N SMC_hinge AAA_23 AAA_21 AAA_15 AAA_29 ABC_tran Mce4_CUP1
Other DBs
NCBI-GeneID: 8243
NCBI-ProteinID: NP_006297
OMIM: 300040
HGNC: 11111
Ensembl: ENSG00000072501
UniProt: Q14683 A0A384MR33 Q68EN4
Structure
LinkDB
Position
X:complement(53374149..53422728)
AA seq 1233 aa
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   +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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