KEGG   Homo sapiens (human): 27127
Entry
27127             CDS       T01001                                 

Gene name
SMC1B, SMC1BETA, SMC1L2
Definition
(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 sister chromatid cohesion proteins
   Cohesin complex and associated proteins
    27127 (SMC1B)
SSDB
Motif
Pfam: SMC_N SMC_hinge AAA_15 AAA_21 AAA_29 SbcCD_C ABC_tran
Other DBs
NCBI-GeneID: 27127
NCBI-ProteinID: NP_683515
OMIM: 608685
HGNC: 11112
Ensembl: ENSG00000077935
Vega: OTTHUMG00000151334
Pharos: Q8NDV3(Tbio)
UniProt: Q8NDV3
LinkDB
Position
22q13.31
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                                 

Gene name
SMC1A, CDLS2, DEE85, DXS423E, EIEE85, 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
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 sister chromatid cohesion proteins
   Cohesin complex and associated proteins
    8243 (SMC1A)
SSDB
Motif
Pfam: SMC_N SMC_hinge AAA_21 AAA_23 AAA_15 AAA_29 ABC_tran SlyX SbcCD_C
Other DBs
NCBI-GeneID: 8243
NCBI-ProteinID: NP_006297
OMIM: 300040
HGNC: 11111
Ensembl: ENSG00000072501
Vega: OTTHUMG00000021614
Pharos: Q14683(Tbio)
UniProt: Q14683 A0A384MR33 Q68EN4
LinkDB
Position
Xp11.22
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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