KEGG   Homo sapiens (human): 378884Help
Entry
378884            CDS       T01001                                 

Gene name
NHLRC1, EPM2A, EPM2B, MALIN, bA204B7.2
Definition
NHL repeat containing E3 ubiquitin protein ligase 1
Orthology
K10602  
E3 ubiquitin-protein ligase NHLRC1 [EC:6.3.2.19]
Organism
hsa  Homo sapiens (human)
Pathway
Ubiquitin mediated proteolysis
Disease
H00810  
Progressive myoclonic epilepsy (PME/ EPM)
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Genetic Information Processing
  Folding, sorting and degradation
   04120 Ubiquitin mediated proteolysis
    378884 (NHLRC1)
Enzymes [BR:hsa01000]
 6. Ligases
  6.3  Forming carbon-nitrogen bonds
   6.3.2  Acid-D-amino-acid ligases (peptide synthases)
    6.3.2.19  ubiquitin---protein ligase
     378884 (NHLRC1)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif Motif
Other DBs
NCBI-GI: 
NCBI-GeneID: 
OMIM: 
HGNC: 
HPRD: 
Ensembl: 
Vega: 
UniProt: 
Position
6p22.3
AA seq 395 aa AA seqDB search
MAAEASESGPALHELMREAEISLLECKVCFEKFGHRQQRRPRNLSCGHVVCLACVAALAH
PRTLALECPFCRRACRGCDTSDCLPVLHLIELLGSALRQSPAAHRAAPSAPGALTCHHTF
GGWGTLVNPTGLALCPKTGRVVVVHDGRRRVKIFDSGGGCAHQFGEKGDAAQDIRYPVDV
TITNDCHVVVTDAGDRSIKVFDFFGQIKLVIGGQFSLPWGVETTPQNGIVVTDAEAGSLH
LLDVDFAEGVLRRTERLQAHLCNPRGVAVSWLTGAIAVLEHPLALGTGVCSTRVKVFSSS
MQLVGQVDTFGLSLYFPSKITASAVTFDHQGNVIVADTSGPAILCLGKPEEFPVPKPMVT
HGLSHPVALTFTKENSLLVLDTASHSIKVYKVDWG
NT seq 1188 nt NT seq  +upstreamnt  +downstreamnt
atggcggccgaagcctcggagagcgggccagcgctgcatgagctcatgcgcgaggcggag
atcagcctgctcgagtgcaaggtgtgctttgagaagtttggccaccggcagcagcggcgc
ccgcgcaacctgtcctgcggccacgtggtctgcctggcctgcgtggccgccctggcgcac
ccgcgcactctggccctcgagtgcccattctgcaggcgagcttgccggggctgcgacacc
agcgactgcctgccggtgctgcacctcatagagctcctgggctcagcgcttcgccagtcc
ccggccgcccatcgcgccgcccccagcgcccccggagccctcacctgccaccacaccttc
ggcggctgggggaccctggtcaaccccaccggactggcgctttgtcccaagacggggcgt
gtcgtggtggtgcacgacggcaggaggcgtgtcaagatttttgactcagggggaggatgc
gcgcatcagtttggagagaagggggacgctgcccaagacattaggtaccctgtggatgtc
accatcaccaacgactgccatgtggttgtcactgacgccggcgatcgctccatcaaagtg
tttgatttttttggccagatcaagcttgtcattggaggccaattctccttaccttggggt
gtggagaccacccctcagaatgggattgtggtaactgatgcggaggcagggtccctgcac
ctcctggacgtcgacttcgcggaaggggtccttcggagaactgaaaggttgcaagctcat
ctgtgcaatccccgaggggtggcagtgtcttggctcaccggggccattgcggtcctggag
caccccctggccctggggactggggtttgcagcaccagggtgaaagtgtttagctcaagt
atgcagcttgtcggccaagtggatacctttgggctgagcctctactttccctccaaaata
actgcctccgctgtgacctttgatcaccagggaaatgtgattgttgcagatacatctggt
ccagctatcctttgcttaggaaaacctgaggagtttccagtaccgaagcccatggtcact
catggtctttcgcatcctgtggctcttaccttcaccaaggagaattctcttcttgtgctg
gacacagcatctcattctataaaagtctataaagttgactgggggtga

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