KEGG   Homo sapiens (human): 9354
Entry
9354              CDS       T01001                                 
Symbol
UBE4A, E4, NEDHMS, UBOX2, UFD2
Name
(RefSeq) ubiquitination factor E4A
  KO
K10596  ubiquitin conjugation factor E4 A [EC:2.3.2.27]
Organism
hsa  Homo sapiens (human)
Pathway
hsa04120  Ubiquitin mediated proteolysis
Disease
H02397  Neurodevelopmental disorder with movement abnormalities or hypotonia
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09120 Genetic Information Processing
  09123 Folding, sorting and degradation
   04120 Ubiquitin mediated proteolysis
    9354 (UBE4A)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04121 Ubiquitin system [BR:hsa04121]
    9354 (UBE4A)
Enzymes [BR:hsa01000]
 2. Transferases
  2.3  Acyltransferases
   2.3.2  Aminoacyltransferases
    2.3.2.27  RING-type E3 ubiquitin transferase
     9354 (UBE4A)
Ubiquitin system [BR:hsa04121]
 Ubiquitin ligases (E3)
  U-box type E3
   9354 (UBE4A)
SSDB
Motif
Pfam: Ufd2P_core U-box
Other DBs
NCBI-GeneID: 9354
NCBI-ProteinID: NP_001191006
OMIM: 603753
HGNC: 12499
Ensembl: ENSG00000110344
UniProt: Q14139
Structure
Position
11:118359600..118399211
AA seq 1066 aa
MTDQENNNNISSNPFAALFGSLADAKQFAAIQKEQLKQQSDELPASPDDSDNSVSESLDE
FDYSVAEISRSFRSQQEICEQLNINHMIQRIFLITLDNSDPSLKSGNGIPSRCVYLEEMA
VELEDQDWLDMSNVEQALFARLLLQDPGNHLINMTSSTTLNLSADRDAGERHIFCYLYSC
FQRAKEEITKVPENLLPFAVQCRNLTVSNTRTVLLTPEIYVDQNIHEQLVDLMLEAIQGA
HFEDVTEFLEEVIEALILDEEVRTFPEVMIPVFDILLGRIKDLELCQILLYAYLDILLYF
TRQKDMAKVFVEYIQPKDPTNGQMYQKTLLGVILSISCLLKTPGVVENHGYFLNPSRSSP
QEIKVQEANIHQFMAQFHEKIYQMLKNLLQLSPETKHCILSWLGNCLHANAGRTKIWANQ
MPEIFFQMYASDAFFLNLGAALLKLCQPFCKPRSSRLLTFNPTYCALKELNDEERKIKNV
HMRGLDKETCLIPAVQEPKFPQNYNLVTENLALTEYTLYLGFHRLHDQMVKINQNLHRLQ
VAWRDAQQSSSPAADNLREQFERLMTIYLSTKTAMTEPQMLQNCLNLQVSMAVLLVQLAI
GNEGSQPIELTFPLPDGYSSLAYVPEFFADNLGDFLIFLRRFADDILETSADSLEHVLHF
ITIFTGSIERMKNPHLRAKLAEVLEAVMPHLDQTPNPLVSSVFHRKRVFCNFQYAPQLAE
ALIKVFVDIEFTGDPHQFEQKFNYRRPMYPILRYMWGTDTYRESIKDLADYASKNLEAMN
PPLFLRFLNLLMNDAIFLLDEAIQYLSKIKIQQIEKDRGEWDSLTPEARREKEAGLQMFG
QLARFHNIMSNETIGTLAFLTSEIKSLFVHPFLAERIISMLNYFLQHLVGPKMGALKVKD
FSEFDFKPQQLVSDICTIYLNLGDEENFCATVPKDGRSYSPTLFAQTVRVLKKINKPGNM
IMAFSNLAERIKSLADLQQQEEETYADACDEFLDPIMSTLMCDPVVLPSSRVTVDRSTIA
RHLLSDQTDPFNRSPLTMDQIRPNTELKEKIQRWLAERKQQKEQLE
NT seq 3201 nt   +upstreamnt  +downstreamnt
atgacagaccaggagaataacaacaacatctcaagtaacccctttgctgctctttttggc
tccctggctgatgccaaacagtttgcggcaatccaaaaagagcagctgaagcaacaatct
gatgaactcccagctagcccagatgactcggataatagcgtgtcagagagcctggatgaa
ttcgattactctgtggctgagattagccgctcattccgatcacagcaggaaatatgtgag
caactcaacatcaatcacatgatccaaaggatcttccttattactctggacaacagtgat
cccagcttgaaaagcgggaatggcatccctagccgttgtgtgtatttggaagaaatggca
gtagagctagaagatcaagactggcttgatatgagcaatgttgagcaggccctcttcgct
cgcttattacttcaagatccaggcaaccacttaattaacatgacttcttctacaacgcta
aatctctctgctgatcgagatgcaggagagaggcacattttttgttacctttactcctgc
ttccagagagccaaggaagagattaccaaagttccagagaacctgctaccctttgcagtg
cagtgcagaaacctcactgtgtccaatacccgaacagttcttctcaccccagagatctat
gttgaccaaaacatccatgagcaactggtagatttgatgttagaagccatccagggagcc
cattttgaagatgtaactgagtttctggaagaggtcattgaagccttgatattggatgag
gaagttagaacatttccagaagtcatgattccagtgtttgatattttattgggccgaata
aaagatctagagctctgtcagatccttttgtatgcatatctggatattcttctctatttc
actaggcaaaaagatatggcaaaggtttttgtagaatacattcagcccaaggaccctacc
aatgggcaaatgtaccagaagaccttgctgggagtaattctgagtatctcctgcttatta
aagactccgggtgttgtagaaaatcatggctactttttgaatccatctcgttccagcccc
caggagatcaaagtacaggaggccaacatccatcagttcatggctcagttccacgaaaag
atctaccagatgctgaagaacttactccagctctctccagaaaccaaacactgtatcttg
tcctggcttggaaactgtttgcatgcaaatgcaggccgcaccaagatttgggccaatcag
atgccagaaatctttttccaaatgtatgcctcagatgctttctttctgaatctgggtgct
gctctcctgaagctatgccagccattttgcaaacccagatcctctcggctcctcaccttt
aatcccacatactgtgccctcaaggagttgaatgatgaagaacgaaaaattaaaaatgta
cacatgagaggtttggacaaagaaacctgtttgatcccagctgtgcaggagccgaagttt
ccacagaactacaaccttgtaacagagaaccttgctctgacagagtacaccttgtacttg
ggatttcacaggttgcatgatcagatggtaaaaatcaaccaaaatctgcatcggctgcag
gttgcctggcgggatgctcagcaaagttctagccctgctgctgacaatcttcgtgagcag
tttgaacgactgatgaccatctatctttctaccaagactgccatgacagagccacaaatg
ctacaaaactgcctaaacttgcaggtgtccatggctgttctactggttcaactggccata
ggcaatgagggctcacagccaatagagctaacctttcctttgccagatggctacagctct
ttggcttatgtgccagaattttttgcagataacctgggtgattttctcatttttctccgc
cgctttgccgatgacattttggagacatcagcagattccctggagcatgtccttcacttt
atcaccattttcactggaagcatagaaagaatgaagaatccccacctgagggccaaacta
gcagaggtgttggaagcagtgatgccccacctggatcagaccccaaatcccttggtatcc
agtgtgttccaccggaaacgtgtgttctgcaactttcagtatgcaccccaacttgcagag
gctctaatcaaggtttttgtggacatcgaatttacaggagacccccatcaatttgaacag
aagtttaattaccgccgtcccatgtatcctatcctaagatacatgtgggggacagatacc
tatcgggagagcattaaggatttggctgactatgcctctaagaatttagaagccatgaat
cccccacttttcctccgctttcttaacctgctaatgaatgatgccatcttccttttggat
gaagccatacagtatttgagcaagataaagattcagcaaattgagaaggatcgaggtgaa
tgggatagtctgactccagaagcccgccgagaaaaggaggctggcctacagatgtttgga
cagctggcacgtttccataacatcatgtccaatgaaacaatcggtacccttgcctttctc
acatcagagatcaagtcactctttgtgcatcccttcctggctgagcgcatcatctccatg
ttgaactacttcctgcaacacctggttggccccaagatgggtgccttaaaagtcaaggac
ttcagcgaatttgacttcaaaccccagcagcttgtatcagatatctgcactatctactta
aatcttggggatgaggagaatttctgtgccactgtgcccaaggatggacgttcctattcc
ccaactctctttgcacagacagttcgagtcttgaagaaaataaataagcctgggaatatg
attatggctttcagcaacttggcagagagaatcaagtctcttgcagacctccaacaacag
gaagaggaaacctatgcagatgcctgtgatgagttcctggatcccattatgagcacactg
atgtgtgaccctgtggtgctgccatcttccagagtcactgtggatagatccaccattgca
agacatttgctcagtgaccaaacagatccctttaaccgtagtcccctcaccatggaccag
atccggccaaacacagaactaaaagaaaaaatccaacggtggcttgcagagaggaaacaa
caaaaggagcaacttgaatag

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