KEGG   Homo sapiens (human): 286053
Entry
286053            CDS       T01001                                 
Symbol
NSMCE2, C8orf36, MMS21, NSE2, ZMIZ7
Name
(RefSeq) NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase
  KO
K22756  E3 SUMO-protein ligase NSE2 [EC:2.3.2.-]
Organism
hsa  Homo sapiens (human)
Network
nt06506  Double-strand break repair
  Element
N01636  Loading of the SMC5-SMC6 complex
Disease
H00992  Seckel syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04121 Ubiquitin system [BR:hsa04121]
    286053 (NSMCE2)
   03400 DNA repair and recombination proteins [BR:hsa03400]
    286053 (NSMCE2)
Ubiquitin system [BR:hsa04121]
 Ubiquitin ligases (E3)
  UBL E3 ligases
   286053 (NSMCE2)
DNA repair and recombination proteins [BR:hsa03400]
 Eukaryotic type
  DSBR (double strand breaks repair)
   HR (homologous recombination)
    SMC5-SMC6 complex
     286053 (NSMCE2)
SSDB
Motif
Pfam: zf-Nse zf-RING_UBOX U-box zf-MIZ zf-C3HC4_2 Rtf2 zf-C3HC4 EIF3I
Other DBs
NCBI-GeneID: 286053
NCBI-ProteinID: NP_775956
OMIM: 617246
HGNC: 26513
Ensembl: ENSG00000156831
UniProt: Q96MF7
Structure
Position
8:125091860..125367120
AA seq 247 aa
MPGRSSSNSGSTGFISFSGVESALSSLKNFQACINSGMDTASSVALDLVESQTEVSSEYS
MDKAMVEFATLDRQLNHYVKAVQSTINHVKEERPEKIPDLKLLVEKKFLALQSKNSDADF
QNNEKFVQFKQQLKELKKQCGLQADREADGTEGVDEDIIVTQSQTNFTCPITKEEMKKPV
KNKVCGHTYEEDAIVRMIESRQKRKKKAYCPQIGCSHTDIRKSDLIQDEALRRAIENHNK
KRHRHSE
NT seq 744 nt   +upstreamnt  +downstreamnt
atgccaggacgttccagttcaaattcaggttcaactggtttcatctccttcagtggtgta
gagtctgctctctcctccttgaaaaacttccaagcctgtatcaactctggtatggacaca
gcttctagtgttgctttggatcttgtggaaagtcagactgaagtgagtagtgaatatagt
atggacaaggcaatggttgaatttgctacattggatcggcaactaaaccattatgtaaag
gctgttcaatctacaataaatcatgtgaaagaagaacgtccagaaaaaataccagattta
aaattattggtagagaagaaatttttggctttacagagcaagaattctgatgcagacttt
caaaataatgaaaaatttgtacagtttaaacaacagctgaaagaactaaagaagcaatgt
ggtcttcaagctgacagagaagctgacggaacagaaggagtggatgaagatataattgtg
acccaaagtcagaccaacttcacctgccccattacaaaggaggaaatgaagaagccagtg
aaaaataaagtgtgtggccacacctatgaagaggacgccattgttcgcatgattgagtcc
aggcaaaagcggaagaaaaaggcctattgccctcaaattggctgtagccacacggatata
agaaagtcagatcttatccaggatgaagcacttagaagggcaattgagaaccataacaag
aaaagacatcgtcattccgagtag

  All links  
Disease (2)   
   OMIM (2)   
Gene (24)   
   RefGene (17)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (2)   
   OC (1)   
Protein sequence (25)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (23)   
DNA sequence (43)   
   RefSeq(nuc) (25)   
   GenBank (9)   
   EMBL (9)   
3D Structure (1)   
   PDB (1)   
Protein domain (8)   
   Pfam (8)   
All databases (103)   

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