KEGG   Homo sapiens (human): 7337Help
Entry
7337              CDS       T01001                                 

Gene name
UBE3A, ANCR, AS, E6-AP, EPVE6AP, HPVE6A
Definition
(RefSeq) ubiquitin protein ligase E3A
  KO
K10587  ubiquitin-protein ligase E3 A [EC:2.3.2.26]
Organism
hsa  Homo sapiens (human)
Pathway
hsa04120  Ubiquitin mediated proteolysis
hsa05165  Human papillomavirus infection
hsa05203  Viral carcinogenesis
Disease
H01732  Angelman syndrome (AS)
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Genetic Information Processing
  Folding, sorting and degradation
   04120 Ubiquitin mediated proteolysis
    7337 (UBE3A)
 Human Diseases
  Cancers
   05203 Viral carcinogenesis
    7337 (UBE3A)
  Infectious diseases
   05165 Human papillomavirus infection
    7337 (UBE3A)
Enzymes [BR:hsa01000]
 2. Transferases
  2.3  Acyltransferases
   2.3.2  Aminoacyltransferases
    2.3.2.26  HECT-type E3 ubiquitin transferase
     7337 (UBE3A)
Ubiquitin system [BR:hsa04121]
 Ubiquitin ligases (E3)
  HECT type E3
   7337 (UBE3A)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: HECT AZUL PCM1_C Ribosomal_S17e
Motif
Other DBs
NCBI-GeneID: 7337
NCBI-ProteinID: NP_000453
OMIM: 601623
HGNC: 12496
Ensembl: ENSG00000114062
Vega: OTTHUMG00000171548
Pharos: Q05086(Tbio)
UniProt: Q05086
Structure
PDB: 

Jmol
Position
15q11.2
AA seq 875 aa AA seqDB search
MEKLHQCYWKSGEPQSDDIEASRMKRAAAKHLIERYYHQLTEGCGNEACTNEFCASCPTF
LRMDNNAAAIKALELYKINAKLCDPHPSKKGASSAYLENSKGAPNNSCSEIKMNKKGARI
DFKDVTYLTEEKVYEILELCREREDYSPLIRVIGRVFSSAEALVQSFRKVKQHTKEELKS
LQAKDEDKDEDEKEKAACSAAAMEEDSEASSSRIGDSSQGDNNLQKLGPDDVSVDIDAIR
RVYTRLLSNEKIETAFLNALVYLSPNVECDLTYHNVYSRDPNYLNLFIIVMENRNLHSPE
YLEMALPLFCKAMSKLPLAAQGKLIRLWSKYNADQIRRMMETFQQLITYKVISNEFNSRN
LVNDDDAIVAASKCLKMVYYANVVGGEVDTNHNEEDDEEPIPESSELTLQELLGEERRNK
KGPRVDPLETELGVKTLDCRKPLIPFEEFINEPLNEVLEMDKDYTFFKVETENKFSFMTC
PFILNAVTKNLGLYYDNRIRMYSERRITVLYSLVQGQQLNPYLRLKVRRDHIIDDALVRL
EMIAMENPADLKKQLYVEFEGEQGVDEGGVSKEFFQLVVEEIFNPDIGMFTYDESTKLFW
FNPSSFETEGQFTLIGIVLGLAIYNNCILDVHFPMVVYRKLMGKKGTFRDLGDSHPVLYQ
SLKDLLEYEGNVEDDMMITFQISQTDLFGNPMMYDLKENGDKIPITNENRKEFVNLYSDY
ILNKSVEKQFKAFRRGFHMVTNESPLKYLFRPEEIELLICGSRNLDFQALEETTEYDGGY
TRDSVLIREFWEIVHSFTDEQKRLFLQFTTGTDRAPVGGLGKLKMIIAKNGPDTERLPTS
HTCFNVLLLPEYSSKEKLKERLLKAITYAKGFGML
NT seq 2628 nt NT seq  +upstreamnt  +downstreamnt
atggagaagctgcaccagtgttattggaaatcaggagaacctcagtctgacgacattgaa
gctagccgaatgaagcgagcagctgcaaagcatctaatagaacgctactaccaccagtta
actgagggctgtggaaatgaagcctgcacgaatgagttttgtgcttcctgtccaactttt
cttcgtatggataataatgcagcagctattaaagccctcgagctttataagattaatgca
aaactctgtgatcctcatccctccaagaaaggagcaagctcagcttaccttgagaactcg
aaaggtgcccccaacaactcctgctctgagataaaaatgaacaagaaaggcgctagaatt
gattttaaagatgtgacttacttaacagaagagaaggtatatgaaattcttgaattatgt
agagaaagagaggattattcccctttaatccgtgttattggaagagttttttctagtgct
gaggcattggtacagagcttccggaaagttaaacaacacaccaaggaagaactgaaatct
cttcaagcaaaagatgaagacaaagatgaagatgaaaaggaaaaagctgcatgttctgct
gctgctatggaagaagactcagaagcatcttcctcaaggataggtgatagctcacaggga
gacaacaatttgcaaaaattaggccctgatgatgtgtctgtggatattgatgccattaga
agggtctacaccagattgctctctaatgaaaaaattgaaactgcctttctcaatgcactt
gtatatttgtcacctaacgtggaatgtgacttgacgtatcacaatgtatactctcgagat
cctaattatctgaatttgttcattatcgtaatggagaatagaaatctccacagtcctgaa
tatctggaaatggctttgccattattttgcaaagcgatgagcaagctaccccttgcagcc
caaggaaaactgatcagactgtggtctaaatacaatgcagaccagattcggagaatgatg
gagacatttcagcaacttattacttataaagtcataagcaatgaatttaacagtcgaaat
ctagtgaatgatgatgatgccattgttgctgcttcgaagtgcttgaaaatggtttactat
gcaaatgtagtgggaggggaagtggacacaaatcacaatgaagaagatgatgaagagccc
atccctgagtccagcgagctgacacttcaggaacttttgggagaagaaagaagaaacaag
aaaggtcctcgagtggaccccctggaaactgaacttggtgttaaaaccctggattgtcga
aaaccacttatcccttttgaagagtttattaatgaaccactgaatgaggttctagaaatg
gataaagattatacttttttcaaagtagaaacagagaacaaattctcttttatgacatgt
ccctttatattgaatgctgtcacaaagaatttgggattatattatgacaatagaattcgc
atgtacagtgaacgaagaatcactgttctctacagcttagttcaaggacagcagttgaat
ccatatttgagactcaaagttagacgtgaccatatcatagatgatgcacttgtccggcta
gagatgatcgctatggaaaatcctgcagacttgaagaagcagttgtatgtggaatttgaa
ggagaacaaggagttgatgagggaggtgtttccaaagaattttttcagctggttgtggag
gaaatcttcaatccagatattggtatgttcacatacgatgaatctacaaaattgttttgg
tttaatccatcttcttttgaaactgagggtcagtttactctgattggcatagtactgggt
ctggctatttacaataactgtatactggatgtacattttcccatggttgtctacaggaag
ctaatggggaaaaaaggaacttttcgtgacttgggagactctcacccagttctatatcag
agtttaaaagatttattggagtatgaagggaatgtggaagatgacatgatgatcactttc
cagatatcacagacagatctttttggtaacccaatgatgtatgatctaaaggaaaatggt
gataaaattccaattacaaatgaaaacaggaaggaatttgtcaatctttattctgactac
attctcaataaatcagtagaaaaacagttcaaggcttttcggagaggttttcatatggtg
accaatgaatctcccttaaagtacttattcagaccagaagaaattgaattgcttatatgt
ggaagccggaatctagatttccaagcactagaagaaactacagaatatgacggtggctat
accagggactctgttctgattagggagttctgggaaatcgttcattcatttacagatgaa
cagaaaagactcttcttgcagtttacaacgggcacagacagagcacctgtgggaggacta
ggaaaattaaagatgattatagccaaaaatggcccagacacagaaaggttacctacatct
catacttgctttaatgtgcttttacttccggaatactcaagcaaagaaaaacttaaagag
agattgttgaaggccatcacgtatgccaaaggatttggcatgctgtaa

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