KEGG   Homo sapiens (human): 8518
Entry
8518              CDS       T01001                                 
Symbol
ELP1, DYS, FD, IKAP, IKBKAP, IKI3, TOT1
Name
(RefSeq) elongator acetyltransferase complex subunit 1
  KO
K11373  elongator complex protein 1
Organism
hsa  Homo sapiens (human)
Disease
H00265  Hereditary sensory and autonomic neuropathy
H01667  Medulloblastoma
H01987  Familial dysautonomia
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03016 Transfer RNA biogenesis [BR:hsa03016]
    8518 (ELP1)
Transfer RNA biogenesis [BR:hsa03016]
 Eukaryotic type
  tRNA modification factors
   Elongator complex
    8518 (ELP1)
SSDB
Motif
Pfam: IKI3 Herpes_UL37_2 MMU163
Other DBs
NCBI-GeneID: 8518
NCBI-ProteinID: NP_003631
OMIM: 603722
HGNC: 5959
Ensembl: ENSG00000070061
UniProt: O95163 Q4LE38 Q8N516
Structure
Position
9:complement(108867517..108934124)
AA seq 1332 aa
MRNLKLFRTLEFRDIQGPGNPQCFSLRTEQGTVLIGSEHGLIEVDPVSREVKNEVSLVAE
GFLPEDGSGRIVGVQDLLDQESVCVATASGDVILCSLSTQQLECVGSVASGISVMSWSPD
QELVLLATGQQTLIMMTKDFEPILEQQIHQDDFGESKFITVGWGRKETQFHGSEGRQAAF
QMQMHESALPWDDHRPQVTWRGDGQFFAVSVVCPETGARKVRVWNREFALQSTSEPVAGL
GPALAWKPSGSLIASTQDKPNQQDIVFFEKNGLLHGHFTLPFLKDEVKVNDLLWNADSSV
LAVWLEDLQREESSIPKTCVQLWTVGNYHWYLKQSLSFSTCGKSKIVSLMWDPVTPYRLH
VLCQGWHYLAYDWHWTTDRSVGDNSSDLSNVAVIDGNRVLVTVFRQTVVPPPMCTYQLLF
PHPVNQVTFLAHPQKSNDLAVLDASNQISVYKCGDCPSADPTVKLGAVGGSGFKVCLRTP
HLEKRYKIQFENNEDQDVNPLKLGLLTWIEEDVFLAVSHSEFSPRSVIHHLTAASSEMDE
EHGQLNVSSSAAVDGVIISLCCNSKTKSVVLQLADGQIFKYLWESPSLAIKPWKNSGGFP
VRFPYPCTQTELAMIGEEECVLGLTDRCRFFINDIEVASNITSFAVYDEFLLLTTHSHTC
QCFCLRDASFKTLQAGLSSNHVSHGEVLRKVERGSRIVTVVPQDTKLVLQMPRGNLEVVH
HRALVLAQIRKWLDKLMFKEAFECMRKLRINLNLIYDHNPKVFLGNVETFIKQIDSVNHI
NLFFTELKEEDVTKTMYPAPVTSSVYLSRDPDGNKIDLVCDAMRAVMESINPHKYCLSIL
TSHVKKTTPELEIVLQKVHELQGNAPSDPDAVSAEEALKYLLHLVDVNELYDHSLGTYDF
DLVLMVAEKSQKDPKEYLPFLNTLKKMETNYQRFTIDKYLKRYEKAIGHLSKCGPEYFPE
CLNLIKDKNLYNEALKLYSPSSQQYQDISIAYGEHLMQEHMYEPAGLMFARCGAHEKALS
AFLTCGNWKQALCVAAQLNFTKDQLVGLGRTLAGKLVEQRKHIDAAMVLEECAQDYEEAV
LLLLEGAAWEEALRLVYKYNRLDIIETNVKPSILEAQKNYMAFLDSQTATFSRHKKRLLV
VRELKEQAQQAGLDDEVPHGQESDLFSETSSVVSGSEMSGKYSHSNSRISARSSKNRRKA
ERKKHSLKEGSPLEDLALLEALSEVVQNTENLKDEVYHILKVLFLFEFDEQGRELQKAFE
DTLQLMERSLPEIWTLTYQQNSATPVLGPNSTANSIMASYQQQKTSVPVLDAELFIPPKI
NRRTQWKLSLLD
NT seq 3999 nt   +upstreamnt  +downstreamnt
atgcgaaatctgaaattatttcggaccctggagttcagggatattcaaggtccagggaat
cctcagtgcttctctctccgaactgaacaggggacggtgctcattggttcagaacatggc
ctgatagaagtagaccctgtctcaagagaagtgaaaaatgaagtttctttggtggcagaa
ggctttctcccagaggatggaagtggccgcattgttggtgttcaggacttgctggatcag
gagtctgtgtgtgtggccacagcctctggagacgtcatactctgcagtctcagcacacaa
cagctggagtgtgttgggagtgtagccagtggtatctctgttatgagttggagtcctgac
caagagctggtgcttcttgccacaggtcaacagaccctgattatgatgacaaaagatttt
gagccaatcctggagcagcagatccatcaggatgattttggtgaaagcaagtttatcact
gttggatggggtaggaaggagacacagttccatggatcagaaggcagacaagcagctttt
cagatgcaaatgcatgagtctgctttgccctgggatgaccatagaccacaagttacctgg
cggggggatggacagttttttgctgtgagtgttgtttgcccagaaacaggggctcggaag
gtcagagtgtggaaccgagagtttgctttgcagtcaaccagtgagcctgtggcaggactg
ggaccagccctggcttggaaaccctcaggcagtttgattgcatctacacaagataaaccc
aaccagcaggatattgtgttttttgagaaaaatggactccttcatggacactttacactt
cccttccttaaagatgaggttaaggtaaatgacttgctctggaatgcagattcctctgtg
cttgcagtctggctggaagaccttcagagagaagaaagctccattccgaaaacctgtgtt
cagctctggactgttggaaactatcactggtatctcaagcaaagtttatccttcagcacc
tgtgggaagagcaagattgtgtctctgatgtgggaccctgtgaccccataccggctgcat
gttctctgtcagggctggcattacctcgcctatgattggcactggacgactgaccggagc
gtgggagataattcaagtgacttgtccaatgtggctgtcattgatggaaacagggtgttg
gtgacagtcttccggcagactgtggttccgcctcccatgtgcacctaccaactgctgttc
ccacaccctgtgaatcaagtcacattcttagcacaccctcaaaagagtaatgaccttgct
gttctagatgccagtaaccagatttctgtttataaatgtggtgattgtccaagtgctgac
cctacagtgaaactgggagctgtgggtggaagtggatttaaagtttgccttagaactcct
catttggaaaagagatacaaaatccagtttgagaataatgaagatcaagatgtaaacccg
ctgaaactaggccttctcacttggattgaagaagacgtcttcctggctgtaagccacagt
gagttcagcccccggtctgtcattcaccatttgactgcagcttcttctgagatggatgaa
gagcatggacagctcaatgtcagttcatctgcagcggtggatggggtcataatcagtcta
tgttgcaattccaagaccaagtcagtagtattacagctggctgatggccagatatttaag
tacctttgggagtcaccttctctggctattaaaccatggaagaactctggtggatttcct
gttcggtttccttatccatgcacccagaccgaattggccatgattggagaagaggaatgt
gtccttggtctgactgacaggtgtcgctttttcatcaatgacattgaggttgcgtcaaat
atcacgtcatttgcagtatatgatgagtttttattgttgacaacccattcccatacctgc
cagtgtttttgcctgagggatgcttcatttaaaacattacaggccggcctgagcagcaat
catgtgtcccatggggaagttctgcggaaagtggagaggggttcacggattgtcactgtt
gtgccccaggacacaaagcttgtattacagatgccaaggggaaacttagaagttgttcat
catcgagccctggttttagctcagattcggaagtggttggacaaacttatgtttaaagag
gcatttgaatgcatgagaaagctgagaatcaatctcaatctgatttatgatcataaccct
aaggtgtttcttggaaatgtggaaaccttcattaaacagatagattctgtgaatcatatt
aacttgttttttacagaattgaaagaagaagatgtcacgaagaccatgtaccctgcacca
gttaccagcagtgtctacctgtccagggatcctgacgggaataaaatagaccttgtctgc
gatgctatgagagcagtcatggagagcataaatcctcataaatactgcctatccatactt
acatctcatgtaaagaagacaaccccagaactggaaattgtactgcaaaaagtacacgag
cttcaaggaaatgctccctctgatcctgatgctgtgagtgctgaagaggccttgaaatat
ttgctgcatctggtagatgttaatgaattatatgatcattctcttggcacctatgacttt
gatttggtcctcatggtagctgagaagtcacagaaggatcccaaagaatatcttccattt
cttaatacacttaagaaaatggaaactaattatcagcggtttactatagacaaatacttg
aaacgatatgaaaaagccattggccacctcagcaaatgtggacctgagtacttcccagaa
tgcttaaacttgataaaagataaaaacttgtataacgaagctctgaagttatattcacca
agctcacaacagtaccaggatatcagcattgcttatggggagcacctgatgcaggagcac
atgtatgagccagcggggctcatgtttgcccgttgcggtgcccacgagaaagctctctca
gcctttctgacatgtggcaactggaagcaagccctctgtgtggcagcccagcttaacttt
accaaagaccagctggtgggcctcggcagaactctggcaggaaagctggttgagcagagg
aagcacattgatgcggccatggttttggaagagtgtgcccaggattatgaagaagctgtg
ctcttgctgttagaaggagctgcctgggaagaagctttgaggctggtatacaaatataac
agactggatattatagaaaccaacgtaaagccttccattttagaagcccagaaaaattat
atggcatttctggactctcagacagccacattcagtcgccacaagaaacgtttattggta
gttcgagagctcaaggagcaagcccagcaggcaggtctggatgatgaggtaccccacggg
caagagtcagacctcttctctgaaactagcagtgtcgtgagtggcagtgagatgagtggc
aaatactcccatagtaactccaggatatcagcgagatcatccaagaatcgccgaaaagcg
gagcggaagaagcacagcctcaaagaaggcagtccgctggaggacctggccctcctggag
gcactgagtgaagtggtgcagaacactgaaaacctgaaagatgaagtataccatatttta
aaggtactctttctctttgagtttgatgaacaaggaagggaattacagaaggcctttgaa
gatacgctgcagttgatggaaaggtcacttccagaaatttggactcttacttaccagcag
aattcagctaccccggttctaggtcccaattctactgcaaatagtatcatggcatcttat
cagcaacagaagacttcggttcctgttcttgatgctgagctttttataccaccaaagatc
aacagaagaacccagtggaagctgagcctgctagactga

  All links  
Ontology (2)   
   KEGG BRITE (2)   
Disease (6)   
   KEGG DISEASE (3)   
   OMIM (3)   
Genome (1)   
   KEGG GENOME (1)   
Gene (23)   
   KEGG ORTHOLOGY (1)   
   RefGene (12)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (5)   
   OC (1)   
Protein sequence (9)   
   UniProt (3)   
   SWISS-PROT (1)   
   RefSeq(pep) (5)   
DNA sequence (49)   
   RefSeq(nuc) (5)   
   GenBank (22)   
   EMBL (22)   
3D Structure (1)   
   PDB (1)   
Protein domain (3)   
   Pfam (3)   
All databases (94)   

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