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
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

  All links  
Ontology (2)   
   KEGG BRITE (2)   
Pathway (2)   
   KEGG PATHWAY (2)   
Network (2)   
   KEGG NETWORK (2)   
Disease (5)   
   KEGG DISEASE (2)   
   OMIM (3)   
Genome (1)   
   KEGG GENOME (1)   
Gene (36)   
   KEGG ORTHOLOGY (1)   
   RefGene (27)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (3)   
   OC (1)   
Protein sequence (6)   
   UniProt (3)   
   SWISS-PROT (1)   
   RefSeq(pep) (2)   
DNA sequence (34)   
   RefSeq(nuc) (2)   
   GenBank (16)   
   EMBL (16)   
3D Structure (5)   
   PDB (5)   
Protein domain (8)   
   Pfam (8)   
All databases (101)   

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