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)
Class
Genetic Information Processing; Folding, sorting and degradation; Ubiquitin mediated proteolysis [PATH:hsa04120]
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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