Homo sapiens (human): 7957
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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)
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
DSPc
CBM_20
Y_phosphatase2
AlaDh_PNT_N
Motif
Other DBs
NCBI-GeneID:
7957
NCBI-ProteinID:
NP_005661
OMIM:
607566
HGNC:
3413
Ensembl:
ENSG00000112425
UniProt:
O95278
Structure
PDB
LinkDB
All DBs
Position
6:complement(145383353..145736023)
Genome browser
AA seq
331 aa
AA seq
DB search
MRFRFGVVVPPAVAGARPELLVVGSRPELGRWEPRGAVRLRPAGTAAGDGALALQEPGLW
LGEVELAAEEAAQDGAEPGRVDTFWYKFLKREPGGELSWEGNGPHHDRCCTYNENNLVDG
VYCLPIGHWIEATGHTNEMKHTTDFYFNIAGHQAMHYSRILPNIWLGSCPRQVEHVTIKL
KHELGITAVMNFQTEWDIVQNSSGCNRYPEPMTPDTMIKLYREEGLAYIWMPTPDMSTEG
RVQMLPQAVCLLHALLEKGHIVYVHCNAGVGRSTAAVCGWLQYVMGWNLRKVQYFLMAKR
PAVYIDEEALARAQEDFFQKFGKVRSSVCSL
NT seq
996 nt
NT seq
+upstream
nt +downstream
nt
atgcgcttccgctttggggtggtggtgccacccgccgtggccggcgcccggccggagctg
ctggtggtggggtcgcggcccgagctggggcgttgggagccgcgcggtgccgtccgcctg
aggccggccggcaccgcggcgggcgacggggccctggccctgcaggagccgggcctgtgg
ctcggggaggtggagctggcggccgaggaggcggcgcaggacggggcggagccgggccgc
gtggacacgttctggtacaagttcctgaagcgggagccgggaggagagctctcctgggaa
ggcaatggacctcatcatgaccgttgctgtacttacaatgaaaacaacttggtggatggt
gtgtattgtctcccaataggacactggattgaggccactgggcacaccaatgaaatgaag
cacacaacagacttctattttaatattgcaggccaccaagccatgcattattcaagaatt
ctaccaaatatctggctgggtagctgccctcgtcaggtggaacatgtaaccatcaaactg
aagcatgaattggggattacagctgtaatgaatttccagactgaatgggatattgtacag
aattcctcaggctgtaaccgctacccagagcccatgactccagacactatgattaaacta
tatagggaagaaggcttggcctacatctggatgccaacaccagatatgagcaccgaaggc
cgagtacagatgctgccccaggcggtgtgcctgctgcatgcgctgctggagaagggacac
atcgtgtacgtgcactgcaacgctggggtgggccgctccaccgcggctgtctgcggctgg
ctccagtatgtgatgggctggaatctgaggaaggtgcagtatttcctcatggccaagagg
ccggctgtctacattgacgaagaggccttggcccgggcacaagaagattttttccagaaa
tttgggaaggttcgttcttctgtgtgtagcctgtag
Homo sapiens (human): 378884
Help
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)
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
NHL
zf-RING_5
zf-RING_UBOX
zf-RING_2
Baculo_IE-1
zf-C3HC4_4
Prok-RING_4
Motif
Other DBs
NCBI-GeneID:
378884
NCBI-ProteinID:
NP_940988
OMIM:
608072
HGNC:
21576
Ensembl:
ENSG00000187566
UniProt:
Q6VVB1
LinkDB
All DBs
Position
6:complement(18120440..18122677)
Genome browser
AA seq
395 aa
AA seq
DB search
MAAEASESGPALHELMREAEISLLECKVCFEKFGHRQQRRPRNLSCGHVVCLACVAALAH
PRTLALECPFCRRACRGCDTSDCLPVLHLIELLGSALRQSPAAHRAAPSAPGALTCHHTF
GGWGTLVNPTGLALCPKTGRVVVVHDGRRRVKIFDSGGGCAHQFGEKGDAAQDIRYPVDV
TITNDCHVVVTDAGDRSIKVFDFFGQIKLVIGGQFSLPWGVETTPQNGIVVTDAEAGSLH
LLDVDFAEGVLRRTERLQAHLCNPRGVAVSWLTGAIAVLEHPLALGTGVCSTRVKVFSSS
MQLVGQVDTFGLSLYFPSKITASAVTFDHQGNVIVADTSGPAILCLGKPEEFPVPKPMVT
HGLSHPVALTFTKENSLLVLDTASHSIKVYKVDWG
NT seq
1188 nt
NT seq
+upstream
nt +downstream
nt
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