KEGG   Homo sapiens (human): 57520
Entry
57520             CDS       T01001                                 
Symbol
HECW2, NDHSAL, NEDL2
Name
(RefSeq) HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2
  KO
K12168  E3 ubiquitin-protein ligase HECW2 [EC:2.3.2.26]
Organism
hsa  Homo sapiens (human)
Disease
H02715  Neurodevelopmental disorder with defects of ubiquitin-proteasome system
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04121 Ubiquitin system [BR:hsa04121]
    57520 (HECW2)
Enzymes [BR:hsa01000]
 2. Transferases
  2.3  Acyltransferases
   2.3.2  Aminoacyltransferases
    2.3.2.26  HECT-type E3 ubiquitin transferase
     57520 (HECW2)
Ubiquitin system [BR:hsa04121]
 Ubiquitin ligases (E3)
  HECT type E3
   57520 (HECW2)
SSDB
Motif
Pfam: HECT HECW_N HECW1_helix WW C2 RFXA_RFXANK_bdg
Other DBs
NCBI-GeneID: 57520
NCBI-ProteinID: NP_065811
OMIM: 617245
HGNC: 29853
Ensembl: ENSG00000138411
UniProt: Q9P2P5
Structure
LinkDB
Position
2:complement(196194072..196593554)
AA seq 1572 aa
MASSAREHLLFVRRRNPQMRYTLSPENLQSLAAQSSMPENMTLQRANSDTDLVTSESRSS
LTASMYEYTLGQAQNLIIFWDIKEEVDPSDWIGLYHIDENSPANFWDSKNRGVTGTQKGQ
IVWRIEPGPYFMEPEIKICFKYYHGISGALRATTPCITVKNPAVMMGAEGMEGGASGNLH
SRKLVSFTLSDLRAVGLKKGMFFNPDPYLKMSIQPGKKSSFPTCAHHGQERRSTIISNTT
NPIWHREKYSFFALLTDVLEIEIKDKFAKSRPIIKRFLGKLTIPVQRLLERQAIGDQMLS
YNLGRRLPADHVSGYLQFKVEVTSSVHEDASPEAVGTILGVNSVNGDLGSPSDDEDMPGS
HHDSQVCSNGPVSEDSAADGTPKHSFRTSSTLEIDTEELTSTSSRTSPPRGRQDSLNDYL
DAIEHNGHSRPGTATCSERSMGASPKLRSSFPTDTRLNAMLHIDSDEEDHEFQQDLGYPS
SLEEEGGLIMFSRASRADDGSLTSQTKLEDNPVENEEASTHEAASFEDKPENLPELAESS
LPAGPAPEEGEGGPEPQPSADQGSAELCGSQEVDQPTSGADTGTSDASGGSRRAVSETES
LDQGSEPSQVSSETEPSDPARTESVSEASTRPEGESDLECADSSCNESVTTQLSSVDTRC
SSLESARFPETPAFSSQEEEDGACAAEPTSSGPAEGSQESVCTAGSLPVVQVPSGEDEGP
GAESATVPDQEELGEVWQRRGSLEGAAAAAESPPQEEGSAGEAQGTCEGATAQEEGATGG
SQANGHQPLRSLPSVRQDVSRYQRVDEALPPNWEARIDSHGRIFYVDHVNRTTTWQRPTA
PPAPQVLQRSNSIQQMEQLNRRYQSIRRTMTNERPEENTNAIDGAGEEADFHQASADFRR
ENILPHSTSRSRITLLLQSPPVKFLISPEFFTVLHSNPSAYRMFTNNTCLKHMITKVRRD
THHFERYQHNRDLVGFLNMFANKQLELPRGWEMKHDHQGKAFFVDHNSRTTTFIDPRLPL
QSSRPTSALVHRQHLTRQRSHSAGEVGEDSRHAGPPVLPRPSSTFNTVSRPQYQDMVPVA
YNDKIVAFLRQPNIFEILQERQPDLTRNHSLREKIQFIRTEGTPGLVRLSSDADLVMLLS
LFEEEIMSYVPPHALLHPSYCQSPRGSPVSSPQNSPGTQRANARAPAPYKRDFEAKLRNF
YRKLETKGYGQGPGKLKLIIRRDHLLEDAFNQIMGYSRKDLQRNKLYVTFVGEEGLDYSG
PSREFFFLVSRELFNPYYGLFEYSANDTYTVQISPMSAFVDNHHEWFRFSGRILGLALIH
QYLLDAFFTRPFYKALLRILCDLSDLEYLDEEFHQSLQWMKDNDIHDILDLTFTVNEEVF
GQITERELKPGGANIPVTEKNKKEYIERMVKWRIERGVVQQTESLVRGFYEVVDARLVSV
FDARELELVIAGTAEIDLSDWRNNTEYRGGYHDNHIVIRWFWAAVERFNNEQRLRLLQFV
TGTSSIPYEGFASLRGSNGPRRFCVEKWGKITALPRAHTCFNRLDLPPYPSFSMLYEKLL
TAVEETSTFGLE
NT seq 4719 nt   +upstreamnt  +downstreamnt
atggctagttcagcccgggagcacctgctttttgtgaggcgtcgaaatccccagatgcgg
tacacattgagcccagagaacctccagagccttgccgcccagagctccatgccagagaac
atgaccctgcagcgggccaacagcgacaccgacctggtgacttctgagagccgctccagc
ttaactgccagcatgtacgagtacacgctggggcaagcccagaacctcattatcttctgg
gacattaaagaggaggtggaccccagtgattggattggactttatcatatagatgagaat
tctccagccaacttctgggattctaagaacaggggtgtgactggaacacaaaaagggcaa
attgtatggagaattgagcctgggccctatttcatggaaccggagataaaaatctgtttt
aaatattaccacggcattagtggagccctgcgagccacgaccccctgcatcaccgtgaag
aacccagctgtgatgatgggggcagaaggcatggagggaggtgcttcaggaaacctgcat
tctcgaaaacttgttagctttacattgtcagatcttagggcagttgggctaaagaaaggg
atgttcttcaatcctgacccttatcttaagatgtcaattcagccaggaaagaagagcagt
ttccccacctgtgcccaccacgggcaggagagacggtctactatcatcagtaacaccacc
aatccaatttggcaccgagagaaatattccttttttgcacttcttactgatgtcttagaa
attgaaattaaagacaaatttgccaagagccgtcccatcatcaagcgttttctggggaaa
ctaaccattccagtccagaggctgctggagcgacaagccatcggtgatcaaatgctcagc
tacaaccttggcagaaggctcccagctgaccacgtgagtgggtacctccagtttaaagtg
gaggttacgtcttctgttcatgaagatgcctctccagaagctgttggcacaatacttgga
gtcaattctgtgaatggagacttaggtagcccttccgatgacgaggacatgccagggagc
catcacgacagccaggtgtgctctaatgggccagtttctgaggacagtgctgccgatgga
acccccaagcattcattcaggactagctccactctggaaatagacacagaggaattaacc
tctacgtcttcaaggacctcacctcccagaggacgtcaggattcactcaatgattactta
gatgctatcgaacacaatggccactccaggccggggacagcgacctgctctgagaggtcc
atgggtgcctctccgaaactgaggagtagttttcccactgacacaagactcaatgccatg
cttcatattgattcagatgaagaagatcacgagttccagcaagacctgggttacccatct
tccttggaggaggagggaggcctgatcatgtttagcagggcatccagagctgatgatgga
agcctgacatctcagacaaagctggaggacaaccctgttgagaatgaggaagcctccaca
cacgaagctgcttcctttgaggataagccagaaaatcttccagagcttgcagagagctcc
ttacctgcaggcccagccccagaggaaggtgaaggcggcccagagcctcaacccagtgct
gaccagggcagtgctgaactgtgtggctctcaagaggtagatcagcccacaagtggcgca
gacacagggacttccgatgcatcaggaggaagccgaagagccgtcagtgagaccgagtct
ctcgatcagggctctgagccttcccaggtgtcctctgaaacagaacccagtgatcctgcc
aggacagagagtgtgagcgaagccagcaccaggcctgagggagagagtgacctggaatgc
gctgacagctcctgcaatgagagtgtgaccacgcagctgtcctctgtggacacacggtgc
tcctctcttgagagcgcacggtttcctgaaaccccagccttttcttctcaggaggaggaa
gacggagcctgtgcagcagagcccaccagcagtggccctgccgaagggtcgcaggaatcc
gtgtgcactgctggttctttacctgtggtacaggtgcccagtggggaggatgaagggcca
ggggcagaatcggccactgtacctgaccaggaggagctgggggaggtctggcagcggagg
gggagcctggagggagctgcagctgctgccgagagcccaccgcaagaagaaggcagtgct
ggggaggcccaaggcacctgtgaaggggcaactgcccaggaggagggcgctactggaggt
tctcaagccaacggccaccagccactgcgatcactaccttcagtgcgccaggatgttagc
cggtaccagagggtggacgaggctctcccaccaaactgggaggcacgcattgacagccac
ggcaggatcttctacgtggatcacgtaaacagaaccacgacgtggcagcgaccgacagct
cccccagccccgcaggtgctgcagagatctaactccatacagcaaatggagcagctgaac
cggcgatatcagagtatccgcagaaccatgaccaatgagaggcctgaggaaaataccaat
gctattgatggggcaggggaggaagctgactttcaccaagccagtgcagatttccgacgg
gagaacatcctgcctcactctacctccagatccaggatcacgttgctgttacagtctccc
cccgtgaagttcctcatcagcccagagttcttcaccgtgctgcattctaaccctagtgcc
taccgcatgtttacaaacaacacgtgtttgaagcacatgatcaccaaagtccggagggac
acccaccactttgaacgctaccagcataaccgcgaccttgtgggattcctcaacatgttc
gcgaacaaacagctagagctgccgcggggatgggaaatgaaacatgatcaccagggcaag
gcattctttgtggaccacaactcccgcaccaccactttcattgatccccggctcccactt
cagagcagtagacccacaagtgcgctggttcatcggcaacacctgacaaggcaacgcagc
cacagtgcgggtgaggtaggagaagattctcgacatgcaggaccaccagttcttcccagg
ccatccagtacattcaatacagtcagtaggccacagtaccaggacatggttccagtggct
tacaatgacaagattgttgcatttctacgtcaacccaatatctttgaaattctacaggag
cgtcaacctgatcttaccaggaatcactcactcagggagaagatccaatttatccgaact
gaagggactccaggattggtgcgcctttcaagcgatgcagaccttgttatgttgctgagc
ttatttgaagaagagataatgtcgtatgtgcctccacatgccttactccaccccagctac
tgtcagtccccacgtggctctcccgtgtcatctcctcagaactcgccaggtacccagcgt
gccaatgcccgggctccagccccttacaagcgggatttcgaagccaaactgaggaacttt
tacaggaagttagagactaaaggatatggacaaggcccagggaagttaaagttaattatc
cgaagagatcacttactagaagatgcttttaatcagattatgggctactccagaaaagac
ctgcagagaaataagctatatgtcaccttcgttggggaggaagggctggattacagtggg
ccttctagagagtttttcttcctggtatccagagaactctttaacccatattatggctta
tttgaatattcagccaatgacacatacacagtacaaataagtcctatgtctgcttttgta
gacaatcaccatgaatggttccgattcagtggtaggatccttggtcttgcactaatacac
cagtatttgttggatgccttcttcacacggcccttttataaggctcttctcagaattcta
tgtgacctgagtgacctagaataccttgatgaagagttccatcagagcctgcagtggatg
aaagacaatgatatccatgacatcctagacctcacgttcactgtgaacgaagaagtattt
gggcagataactgaacgagaattaaagccagggggtgccaatatcccagttacagagaag
aacaagaaggagtacatcgagaggatggtgaagtggaggattgagaggggtgttgtacag
caaacagagagcttagtgcgtggcttctatgaggtggtggatgccaggctggtatctgtt
tttgatgcaagagaactggaattggtcatcgcaggcacagctgaaatagacctaagtgat
tggagaaacaacacagaatatagaggaggataccatgacaatcatattgtaattcggtgg
ttctgggctgcagtggaaagattcaacaatgaacaacgactaaggttgttacagtttgtt
acaggcacatccagcattccctatgaaggatttgcttcactccgagggagtaacggccca
agaagattctgtgtggagaaatgggggaaaatcactgctcttcccagagcgcatacatgt
tttaaccgtctggatctgcctccctacccatccttttccatgctttatgaaaaactgttg
acagcagttgaagaaaccagtacttttggacttgagtga

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