• Gene id: 8518

Gene Summary

• Gene Symbol: ELP1   Gene   UCSC   Ensembl
• Aliases: DYS, FD, IKAP, IKBKAP, IKI3, TOT1
• Gene name: elongator complex protein 1
• Alternate names: elongator complex protein 1, IKK complex-associated protein, elongator acetyltransferase complex subunit 1, ikappaB kinase complex-associated protein, inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein,
• Gene location: 9q31.3 (108934134: 108867516)     Exons: 25     NC_000009.12
• Gene summary(Entrez): The protein encoded by this gene is a scaffold protein and a regulator for three different kinases involved in proinflammatory signaling. The encoded protein can bind NF-kappa-B-inducing kinase and I-kappa-B kinases through separate domains and assemble t
• OMIM: 603722

Protein Summary

• Protein general information: O95163  
  • Name: Elongator complex protein 1 (ELP1) (IkappaB kinase complex associated protein) (IKK complex associated protein) (p150)
  • Length: 1332  
  • Mass: 150254
• Sequence:

  MRNLKLFRTLEFRDIQGPGNPQCFSLRTEQGTVLIGSEHGLIEVDPVSREVKNEVSLVAEGFLPEDGSGRIVGVQ
  DLLDQESVCVATASGDVILCSLSTQQLECVGSVASGISVMSWSPDQELVLLATGQQTLIMMTKDFEPILEQQIHQ
  DDFGESKFITVGWGRKETQFHGSEGRQAAFQMQMHESALPWDDHRPQVTWRGDGQFFAVSVVCPETGARKVRVWN
  REFALQSTSEPVAGLGPALAWKPSGSLIASTQDKPNQQDIVFFEKNGLLHGHFTLPFLKDEVKVNDLLWNADSSV
  LAVWLEDLQREESSIPKTCVQLWTVGNYHWYLKQSLSFSTCGKSKIVSLMWDPVTPYRLHVLCQGWHYLAYDWHW
  TTDRSVGDNSSDLSNVAVIDGNRVLVTVFRQTVVPPPMCTYQLLFPHPVNQVTFLAHPQKSNDLAVLDASNQISV
  YKCGDCPSADPTVKLGAVGGSGFKVCLRTPHLEKRYKIQFENNEDQDVNPLKLGLLTWIEEDVFLAVSHSEFSPR
  SVIHHLTAASSEMDEEHGQLNVSSSAAVDGVIISLCCNSKTKSVVLQLADGQIFKYLWESPSLAIKPWKNSGGFP
  VRFPYPCTQTELAMIGEEECVLGLTDRCRFFINDIEVASNITSFAVYDEFLLLTTHSHTCQCFCLRDASFKTLQA
  GLSSNHVSHGEVLRKVERGSRIVTVVPQDTKLVLQMPRGNLEVVHHRALVLAQIRKWLDKLMFKEAFECMRKLRI
  NLNLIYDHNPKVFLGNVETFIKQIDSVNHINLFFTELKEEDVTKTMYPAPVTSSVYLSRDPDGNKIDLVCDAMRA
  VMESINPHKYCLSILTSHVKKTTPELEIVLQKVHELQGNAPSDPDAVSAEEALKYLLHLVDVNELYDHSLGTYDF
  DLVLMVAEKSQKDPKEYLPFLNTLKKMETNYQRFTIDKYLKRYEKAIGHLSKCGPEYFPECLNLIKDKNLYNEAL
  KLYSPSSQQYQDISIAYGEHLMQEHMYEPAGLMFARCGAHEKALSAFLTCGNWKQALCVAAQLNFTKDQLVGLGR
  TLAGKLVEQRKHIDAAMVLEECAQDYEEAVLLLLEGAAWEEALRLVYKYNRLDIIETNVKPSILEAQKNYMAFLD
  SQTATFSRHKKRLLVVRELKEQAQQAGLDDEVPHGQESDLFSETSSVVSGSEMSGKYSHSNSRISARSSKNRRKA
  ERKKHSLKEGSPLEDLALLEALSEVVQNTENLKDEVYHILKVLFLFEFDEQGRELQKAFEDTLQLMERSLPEIWT
  LTYQQNSATPVLGPNSTANSIMASYQQQKTSVPVLDAELFIPPKINRRTQWKLSLLD

• Structural information:
  • Interpro: IPR006849  IPR015943  
  • PDB: 5CQR
  • PDBsum: 5CQR
  • DIP: 27579
  • STRING: ENSP00000363779
• Other Databases: GeneCards:  ELP1  Malacards:  ELP1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005515	protein binding	IPI	molecular function
GO:0000049	tRNA binding	IBA	molecular function
GO:0002926	tRNA wobble base 5-methoxycarbonylmethyl-2-thiouridinylation	IBA	biological process
GO:0005829	cytosol	IBA	cellular component
GO:0033588	Elongator holoenzyme complex	IBA	cellular component
GO:0033588	Elongator holoenzyme complex	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0033588	Elongator holoenzyme complex	IEA	cellular component
GO:0002098	tRNA wobble uridine modification	IEA	biological process
GO:0008033	tRNA processing	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component

Diseases

Associated diseases	References
Hereditary sensory and autonomic neuropathy	KEGG:H00265
Familial dysautonomia	KEGG:H01987
Hereditary sensory and autonomic neuropathy	KEGG:H00265
Familial dysautonomia	KEGG:H01987
Scoliosis	PMID:11097445
Riley-Day syndrome	PMID:11179021
Riley-Day syndrome	PMID:11179008
Asthma	PMID:11281413
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)