KEGG   Homo sapiens (human): 378884
Entry
378884            CDS       T01001                                 
Symbol
NHLRC1, EPM2A, EPM2B, MALIN, MELF2, bA204B7.2
Name
(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
Network
nt06532  Autophagy
  Element
N01719  Autophagy-vesicle nucleation/elongation/maturation, E3 ubiquitin-ligase Malin
Disease
H00810  Progressive myoclonic epilepsy
H01994  Myoclonic epilepsy of Lafora
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_UBOX zf-RING_2 Baculo_IE-1 zf-C3HC4_4 Prok-RING_4
Other DBs
NCBI-GeneID: 378884
NCBI-ProteinID: NP_940988
OMIM: 608072
HGNC: 21576
Ensembl: ENSG00000187566
UniProt: Q6VVB1
Position
6:complement(18120440..18122677)
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

  All links  
Ontology (3)   
   KEGG BRITE (3)   
Pathway (1)   
   KEGG PATHWAY (1)   
Network (2)   
   KEGG NETWORK (2)   
Disease (4)   
   KEGG DISEASE (2)   
   OMIM (2)   
Chemical reaction (1)   
   KEGG ENZYME (1)   
Genome (1)   
   KEGG GENOME (1)   
Gene (13)   
   KEGG ORTHOLOGY (1)   
   RefGene (6)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (1)   
   OC (1)   
Protein sequence (3)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (1)   
DNA sequence (11)   
   RefSeq(nuc) (1)   
   GenBank (5)   
   EMBL (5)   
Protein domain (7)   
   Pfam (7)   
All databases (46)   

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