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

Gene name
NHLRC1, EPM2A, EPM2B, MALIN, bA204B7.2
Definition
(RefSeq) NHL repeat containing E3 ubiquitin protein ligase 1
  KO
K10602  E3 ubiquitin-protein ligase NHLRC1 [EC:2.3.2.27]
Organism
hsa  Homo sapiens (human)
Pathway
hsa04120  Ubiquitin mediated proteolysis
Disease
H00810  Progressive myoclonic epilepsy
H01994  Lafora disease
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09120 Genetic Information Processing
  09123 Folding, sorting and degradation
   04120 Ubiquitin mediated proteolysis
    378884 (NHLRC1)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04121 Ubiquitin system [BR:hsa04121]
    378884 (NHLRC1)
Enzymes [BR:hsa01000]
 2. Transferases
  2.3  Acyltransferases
   2.3.2  Aminoacyltransferases
    2.3.2.27  RING-type E3 ubiquitin transferase
     378884 (NHLRC1)
Ubiquitin system [BR:hsa04121]
 Ubiquitin ligases (E3)
  Single Ring-finger type E3
   Other single Ring-finger type E3
    378884 (NHLRC1)
SSDB
Motif
Pfam: NHL zf-RING_5 zf-RING_2 zf-RING_UBOX Baculo_IE-1 Prok-RING_4 zf-C3HC4_4 zf-C3HC4
Other DBs
NCBI-GeneID: 378884
NCBI-ProteinID: NP_940988
OMIM: 608072
HGNC: 21576
Ensembl: ENSG00000187566
Vega: OTTHUMG00000014315
Pharos: Q6VVB1(Tbio)
UniProt: Q6VVB1
Position
6p22.3
AA seq 395 aa
MAAEASESGPALHELMREAEISLLECKVCFEKFGHRQQRRPRNLSCGHVVCLACVAALAH
PRTLALECPFCRRACRGCDTSDCLPVLHLIELLGSALRQSPAAHRAAPSAPGALTCHHTF
GGWGTLVNPTGLALCPKTGRVVVVHDGRRRVKIFDSGGGCAHQFGEKGDAAQDIRYPVDV
TITNDCHVVVTDAGDRSIKVFDFFGQIKLVIGGQFSLPWGVETTPQNGIVVTDAEAGSLH
LLDVDFAEGVLRRTERLQAHLCNPRGVAVSWLTGAIAVLEHPLALGTGVCSTRVKVFSSS
MQLVGQVDTFGLSLYFPSKITASAVTFDHQGNVIVADTSGPAILCLGKPEEFPVPKPMVT
HGLSHPVALTFTKENSLLVLDTASHSIKVYKVDWG
NT seq 1188 nt   +upstreamnt  +downstreamnt
atggcggccgaagcctcggagagcgggccagcgctgcatgagctcatgcgcgaggcggag
atcagcctgctcgagtgcaaggtgtgctttgagaagtttggccaccggcagcagcggcgc
ccgcgcaacctgtcctgcggccacgtggtctgcctggcctgcgtggccgccctggcgcac
ccgcgcactctggccctcgagtgcccattctgcaggcgagcttgccggggctgcgacacc
agcgactgcctgccggtgctgcacctcatagagctcctgggctcagcgcttcgccagtcc
ccggccgcccatcgcgccgcccccagcgcccccggagccctcacctgccaccacaccttc
ggcggctgggggaccctggtcaaccccaccggactggcgctttgtcccaagacggggcgt
gtcgtggtggtgcacgacggcaggaggcgtgtcaagatttttgactcagggggaggatgc
gcgcatcagtttggagagaagggggacgctgcccaagacattaggtaccctgtggatgtc
accatcaccaacgactgccatgtggttgtcactgacgccggcgatcgctccatcaaagtg
tttgatttttttggccagatcaagcttgtcattggaggccaattctccttaccttggggt
gtggagaccacccctcagaatgggattgtggtaactgatgcggaggcagggtccctgcac
ctcctggacgtcgacttcgcggaaggggtccttcggagaactgaaaggttgcaagctcat
ctgtgcaatccccgaggggtggcagtgtcttggctcaccggggccattgcggtcctggag
caccccctggccctggggactggggtttgcagcaccagggtgaaagtgtttagctcaagt
atgcagcttgtcggccaagtggatacctttgggctgagcctctactttccctccaaaata
actgcctccgctgtgacctttgatcaccagggaaatgtgattgttgcagatacatctggt
ccagctatcctttgcttaggaaaacctgaggagtttccagtaccgaagcccatggtcact
catggtctttcgcatcctgtggctcttaccttcaccaaggagaattctcttcttgtgctg
gacacagcatctcattctataaaagtctataaagttgactgggggtga

DBGET integrated database retrieval system