KEGG   Homo sapiens (human): 7957
Entry
7957              CDS       T01001                                 
Symbol
EPM2A, EPM2, MELF, MELF2
Name
(RefSeq) EPM2A glucan phosphatase, laforin
  KO
K14165  atypical dual specificity phosphatase [EC:3.1.3.16 3.1.3.48]
Organism
hsa  Homo sapiens (human)
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]
 09180 Brite Hierarchies
  09181 Protein families: metabolism
   01009 Protein phosphatases and associated proteins [BR:hsa01009]
    7957 (EPM2A)
Enzymes [BR:hsa01000]
 3. Hydrolases
  3.1  Acting on ester bonds
   3.1.3  Phosphoric-monoester hydrolases
    3.1.3.16  protein-serine/threonine phosphatase
     7957 (EPM2A)
    3.1.3.48  protein-tyrosine-phosphatase
     7957 (EPM2A)
Protein phosphatases and associated proteins [BR:hsa01009]
 Protein tyrosine phosphatases (PTPs)
  Class I PTPs (Dual specificity phosphatases)
   Atypical DSPs
    7957 (EPM2A)
SSDB
Motif
Pfam: DSPc CBM_20 Y_phosphatase2 AlaDh_PNT_N
Other DBs
NCBI-GeneID: 7957
NCBI-ProteinID: NP_005661
OMIM: 607566
HGNC: 3413
Ensembl: ENSG00000112425
UniProt: O95278
Structure
LinkDB
Position
6:complement(145383353..145736023)
AA seq 331 aa
MRFRFGVVVPPAVAGARPELLVVGSRPELGRWEPRGAVRLRPAGTAAGDGALALQEPGLW
LGEVELAAEEAAQDGAEPGRVDTFWYKFLKREPGGELSWEGNGPHHDRCCTYNENNLVDG
VYCLPIGHWIEATGHTNEMKHTTDFYFNIAGHQAMHYSRILPNIWLGSCPRQVEHVTIKL
KHELGITAVMNFQTEWDIVQNSSGCNRYPEPMTPDTMIKLYREEGLAYIWMPTPDMSTEG
RVQMLPQAVCLLHALLEKGHIVYVHCNAGVGRSTAAVCGWLQYVMGWNLRKVQYFLMAKR
PAVYIDEEALARAQEDFFQKFGKVRSSVCSL
NT seq 996 nt   +upstreamnt  +downstreamnt
atgcgcttccgctttggggtggtggtgccacccgccgtggccggcgcccggccggagctg
ctggtggtggggtcgcggcccgagctggggcgttgggagccgcgcggtgccgtccgcctg
aggccggccggcaccgcggcgggcgacggggccctggccctgcaggagccgggcctgtgg
ctcggggaggtggagctggcggccgaggaggcggcgcaggacggggcggagccgggccgc
gtggacacgttctggtacaagttcctgaagcgggagccgggaggagagctctcctgggaa
ggcaatggacctcatcatgaccgttgctgtacttacaatgaaaacaacttggtggatggt
gtgtattgtctcccaataggacactggattgaggccactgggcacaccaatgaaatgaag
cacacaacagacttctattttaatattgcaggccaccaagccatgcattattcaagaatt
ctaccaaatatctggctgggtagctgccctcgtcaggtggaacatgtaaccatcaaactg
aagcatgaattggggattacagctgtaatgaatttccagactgaatgggatattgtacag
aattcctcaggctgtaaccgctacccagagcccatgactccagacactatgattaaacta
tatagggaagaaggcttggcctacatctggatgccaacaccagatatgagcaccgaaggc
cgagtacagatgctgccccaggcggtgtgcctgctgcatgcgctgctggagaagggacac
atcgtgtacgtgcactgcaacgctggggtgggccgctccaccgcggctgtctgcggctgg
ctccagtatgtgatgggctggaatctgaggaaggtgcagtatttcctcatggccaagagg
ccggctgtctacattgacgaagaggccttggcccgggcacaagaagattttttccagaaa
tttgggaaggttcgttcttctgtgtgtagcctgtag

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
LinkDB
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

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