KEGG   Homo sapiens (human): 55250
Entry
55250             CDS       T01001                                 
Symbol
ELP2, MRT58, SHINC-2, STATIP1, StIP
Name
(RefSeq) elongator acetyltransferase complex subunit 2
  KO
K11374  elongator complex protein 2
Organism
hsa  Homo sapiens (human)
Disease
H00768  Autosomal recessive intellectual developmental disorder
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03016 Transfer RNA biogenesis [BR:hsa03016]
    55250 (ELP2)
Transfer RNA biogenesis [BR:hsa03016]
 Eukaryotic type
  tRNA modification factors
   Elongator complex
    55250 (ELP2)
SSDB
Motif
Pfam: WD40 Beta-prop_WDR5 Beta-prop_THOC3 Beta-prop_WDR3_1st WD40_Prp19 WD40_CDC20-Fz WD40_WDHD1_1st Beta-prop_EML_2 Beta-prop_WDR3_2nd Beta-prop_TEP1_2nd Beta-prop_CAF1B_HIR1 WDR55 WD40_Gbeta Beta-prop_WDR36-Utp21_2nd WD40_MABP1-WDR62_2nd EIF3I Beta-prop_EIPR1 Beta-prop_WDR36-Utp21_1st WD40_MABP1-WDR62_1st Beta-prop_WDR41 Beta-prop_IFT140_1st Lar_restr_allev
Other DBs
NCBI-GeneID: 55250
NCBI-ProteinID: NP_060725
OMIM: 616054
HGNC: 18248
Ensembl: ENSG00000134759
UniProt: Q6IA86
Structure
LinkDB
Position
18:36129899..36180557
AA seq 826 aa
MVAPVLETSHVFCCPNRVRGVLNWSSGPRGLLAFGTSCSVVLYDPLKRVVVTNLNGHTAR
VNCIQWICKQDGSPSTELVSGGSDNQVIHWEIEDNQLLKAVHLQGHEGPVYAVHAVYQRR
TSDPALCTLIVSAAADSAVRLWSKKGPEVMCLQTLNFGNGFALALCLSFLPNTDVPILAC
GNDDCRIHIFAQQNDQFQKVLSLCGHEDWIRGVEWAAFGRDLFLASCSQDCLIRIWKLYI
KSTSLETQDDDNIRLKENTFTIENESVKIAFAVTLETVLAGHENWVNAVHWQPVFYKDGV
LQQPVRLLSASMDKTMILWAPDEESGVWLEQVRVGEVGGNTLGFYDCQFNEDGSMIIAHA
FHGALHLWKQNTVNPREWTPEIVISGHFDGVQDLVWDPEGEFIITVGTDQTTRLFAPWKR
KDQSQVTWHEIARPQIHGYDLKCLAMINRFQFVSGADEKVLRVFSAPRNFVENFCAITGQ
SLNHVLCNQDSDLPEGATVPALGLSNKAVFQGDIASQPSDEEELLTSTGFEYQQVAFQPS
ILTEPPTEDHLLQNTLWPEVQKLYGHGYEIFCVTCNSSKTLLASACKAAKKEHAAIILWN
TTSWKQVQNLVFHSLTVTQMAFSPNEKFLLAVSRDRTWSLWKKQDTISPEFEPVFSLFAF
TNKITSVHSRIIWSCDWSPDSKYFFTGSRDKKVVVWGECDSTDDCIEHNIGPCSSVLDVG
GAVTAVSVCPVLHPSQRYVVAVGLECGKICLYTWKKTDQVPEINDWTHCVETSQSQSHTL
AIRKLCWKNCSGKTEQKEAEGAEWLHFASCGEDHTVKIHRVNKCAL
NT seq 2481 nt   +upstreamnt  +downstreamnt
atggtggcacccgtgctggagacttctcacgtgttttgctgcccaaaccgggtgcgggga
gtcctgaactggagctctgggcccagaggacttctggcctttggcacgtcctgctccgtg
gtgctctatgaccccctgaaaagggttgttgttaccaacttgaatggtcacaccgcccga
gtcaattgcatacagtggatttgtaaacaggatggctccccttctactgaattagtttct
ggaggatctgataatcaagtgattcactgggaaatagaggataatcagcttttaaaagca
gtgcatcttcaaggccatgaaggacctgtttatgcggtgcatgctgtttaccagaggagg
acatcagatcctgcattatgtacactgatcgtttctgcagctgcagattctgctgttcga
ctctggtctaaaaagggtccagaagtaatgtgccttcagactttaaactttggaaatgga
tttgctttggctctctgcttatcttttttgccaaatactgatgtaccaatattagcatgt
ggcaatgatgattgcagaattcacatatttgctcaacaaaatgatcagtttcagaaagtg
ctttctctctgtggacatgaggattggattagaggagtggaatgggcagcctttggtaga
gatcttttcctagcaagctgttcacaagattgcctgataagaatatggaagctgtatata
aagtcaacatctttagaaactcaggatgacgataacataagactgaaagaaaatactttt
accatagaaaatgaaagtgttaaaatagcatttgctgttactctggagacagtgctagcc
ggtcatgaaaactgggtaaatgcagttcactggcaacctgtgttttacaaagatggtgtc
ctacagcagccagtgagattattatctgcttccatggataaaaccatgattctctgggct
ccagatgaagagtcaggagtttggctagaacaggttcgagtaggtgaagtaggtgggaat
actttgggattttatgattgccagttcaatgaagatggctccatgatcattgctcatgct
ttccacggagcgttgcacctttggaaacagaatacagttaacccaagagagtggactcca
gagattgtcatttcaggacactttgatggtgtccaagacctagtctgggatccagaagga
gaatttattatcactgttggtactgatcagacaactagactttttgctccatggaagaga
aaagaccaatcacaggtgacttggcatgaaattgcaaggcctcagatacatgggtatgac
ctgaaatgtttggcaatgattaatcggtttcagtttgtatctggagcagatgaaaaagtt
cttcgggttttttctgcacctcggaattttgtggaaaatttttgtgccattacaggacaa
tcactgaatcatgtgctctgtaatcaagatagtgatcttccagaaggagccactgtccct
gcattgggattatcaaataaagctgtctttcagggagatatagcttctcagccttctgat
gaagaggagctgttaactagtactggttttgagtatcagcaggtggcctttcagccctcc
atacttactgagcctcccactgaggatcatcttctgcagaatactttgtggcctgaagtt
caaaaactatatgggcacggttatgaaatattttgtgttacttgtaacagttcaaagact
ctgcttgcctcagcttgtaaggcagctaagaaagagcatgcagctatcattctttggaac
actacatcttggaaacaggtgcagaatttagttttccacagtttgacagtcacgcagatg
gccttctcacctaatgagaagttcttactagctgtttccagagatcgaacctggtcattg
tggaaaaagcaggatacaatctcacctgagttcgagccagtttttagtctttttgccttc
accaacaaaattacttctgtgcacagtagaattatttggtcttgtgattggagtcctgac
agcaagtatttcttcactgggagtcgagacaaaaaggtggttgtctggggtgagtgcgac
tccactgatgactgtattgagcacaacattggcccctgctcctcagtcctggacgtgggt
ggggctgtgacagctgtcagcgtctgcccagtgctccacccttctcaacgatacgtggtt
gcagtaggattggagtgtggaaagatttgcttatatacctggaaaaagactgatcaagtt
ccagaaataaatgactggacccactgtgtagaaacaagtcaaagccaaagtcatacactg
gctatcagaaaattatgctggaagaattgcagtggaaaaactgaacagaaggaagcagaa
ggtgctgagtggttacactttgcaagctgtggtgaagatcacactgtgaagatacacaga
gtcaataaatgtgcactgtaa

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