Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	8518
Gene name	Elongator acetyltransferase complex subunit 1
Gene symbol	ELP1
Synonyms (NCBI Gene)	DYSFDIKAPIKBKAPIKI3TOT1
Chromosome	9
Chromosome location	9q31.3
Summary	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

Show/Hide all (72)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1140064	C>T	Conflicting-interpretations-of-pathogenicity, benign	Missense variant, 5 prime UTR variant, coding sequence variant, non coding transcript variant
rs2230786	G>A,C	Conflicting-interpretations-of-pathogenicity, benign	5 prime UTR variant, coding sequence variant, non coding transcript variant, synonymous variant
rs3737311	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, 5 prime UTR variant, coding sequence variant, non coding transcript variant
rs10979599	G>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, non coding transcript variant, coding sequence variant
rs17853166	T>C	Benign, conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs28939712	G>A	Pathogenic, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant
rs35054425	A>C	Conflicting-interpretations-of-pathogenicity, benign	Synonymous variant, non coding transcript variant, coding sequence variant
rs61749202	A>C,G,T	Conflicting-interpretations-of-pathogenicity, benign	Synonymous variant, non coding transcript variant, coding sequence variant
rs111033171	A>G	Pathogenic, uncertain-significance	Intron variant
rs112114410	G>A	Conflicting-interpretations-of-pathogenicity, benign	Intron variant
rs137853022	C>G,T	Pathogenic-likely-pathogenic, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant
rs138192941	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, non coding transcript variant, synonymous variant
rs139583037	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant
rs141670242	G>A	Conflicting-interpretations-of-pathogenicity, benign	Non coding transcript variant, intron variant
rs143674809	C>A,T	Likely-pathogenic, uncertain-significance	Splice donor variant
rs145319352	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant
rs146440397	T>C	Conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs148378319	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant
rs149685738	T>C	Conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs149845612	C>G,T	Conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs376078668	G>A	Likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs539544212	C>A,T	Likely-pathogenic	Splice acceptor variant
rs555520875	G>C	Conflicting-interpretations-of-pathogenicity	Intron variant
rs571348995	C>T	Likely-pathogenic	Splice donor variant
rs749052963	G>T	Likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs749704610	G>A,C	Pathogenic	Stop gained, missense variant, non coding transcript variant, coding sequence variant
rs754348901	A>G	Likely-pathogenic	Splice donor variant
rs757972943	T>C,G	Likely-pathogenic	Splice acceptor variant
rs759412460	G>-,GG	Pathogenic, likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, intron variant
rs760774999	C>T	Likely-pathogenic	Coding sequence variant, missense variant, splice donor variant
rs763445509	->C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs765572951	C>A	Likely-pathogenic	Splice donor variant
rs767527819	->A	Pathogenic, likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs770668926	C>A,T	Likely-pathogenic	Splice donor variant
rs772114554	T>C,G	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, non coding transcript variant, missense variant
rs773218149	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, non coding transcript variant
rs774890086	G>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs781333644	->C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs866046915	T>C	Uncertain-significance, likely-pathogenic	Splice acceptor variant
rs868073099	G>A,C,T	Uncertain-significance, likely-pathogenic	Synonymous variant, coding sequence variant, missense variant, non coding transcript variant, 5 prime UTR variant, stop gained, intron variant
rs886063349	A>G	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, 5 prime UTR variant, non coding transcript variant
rs926177767	G>A,T	Likely-pathogenic	Synonymous variant, stop gained, 5 prime UTR variant, intron variant, coding sequence variant, non coding transcript variant
rs1057516865	G>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1057517169	C>T	Likely-pathogenic	Splice donor variant
rs1201626345	C>A,G	Likely-pathogenic	Splice donor variant
rs1239081703	C>G,T	Likely-pathogenic	Splice donor variant
rs1319053366	->CTCTT	Likely-pathogenic	Coding sequence variant, splice donor variant, 5 prime UTR variant, non coding transcript variant
rs1449016398	GGTTC>-	Pathogenic	Coding sequence variant, intron variant, non coding transcript variant, frameshift variant
rs1554691572	C>T	Likely-pathogenic	Splice acceptor variant
rs1554692181	A>C,G	Likely-pathogenic	Splice donor variant
rs1554695299	A>C	Likely-pathogenic	Non coding transcript variant, splice donor variant
rs1554695846	C>G	Likely-pathogenic	Splice acceptor variant
rs1554696574	C>T	Likely-pathogenic	Splice donor variant
rs1554696648	A>T	Likely-pathogenic	Splice donor variant
rs1554696650	GT>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1554696934	C>T	Likely-pathogenic	Splice donor variant
rs1554697001	T>A	Likely-pathogenic	Splice acceptor variant
rs1554698037	AA>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1554699327	C>T	Likely-pathogenic	Splice donor variant
rs1554702142	A>T	Likely-pathogenic	Splice donor variant
rs1554702880	T>G	Likely-pathogenic	Splice acceptor variant
rs1554703061	C>T	Likely-pathogenic	Splice donor variant
rs1554703613	C>A,T	Likely-pathogenic	Splice acceptor variant
rs1554703831	C>T	Likely-pathogenic	Splice donor variant
rs1554703851	C>-	Likely-pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1554703874	T>-	Likely-pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, frameshift variant, intron variant
rs1554703907	T>A	Likely-pathogenic	5 prime UTR variant, non coding transcript variant, missense variant, intron variant, initiator codon variant
rs1564084140	G>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1587895234	T>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1587896788	G>T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1587924452	->CAAC	Pathogenic	Non coding transcript variant, coding sequence variant, 5 prime UTR variant, frameshift variant
rs1587924458	A>-	Pathogenic	Non coding transcript variant, coding sequence variant, 5 prime UTR variant, frameshift variant

Show/Hide all (2)

miRTarBase ID	miRNA	Experiments	Reference
MIRT440460	hsa-miR-323a-5p	HITS-CLIP	24374217
MIRT440460	hsa-miR-323a-5p	HITS-CLIP	24374217

Show/Hide all (16)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000049	Function	TRNA binding	IBA
GO:0002098	Process	TRNA wobble uridine modification	IEA
GO:0002098	Process	TRNA wobble uridine modification	NAS	27847465
GO:0002926	Process	TRNA wobble base 5-methoxycarbonylmethyl-2-thiouridinylation	IBA
GO:0005515	Function	Protein binding	IPI	11714725, 15383276, 19185337, 21903422, 22854966, 33961781
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IDA	11714725, 22854966
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA
GO:0006417	Process	Regulation of translation	NAS	22854966
GO:0008033	Process	TRNA processing	IEA
GO:0033588	Component	Elongator holoenzyme complex	IBA
GO:0033588	Component	Elongator holoenzyme complex	IDA	22854966, 26261306
GO:0033588	Component	Elongator holoenzyme complex	IEA
GO:0033588	Component	Elongator holoenzyme complex	IPI	22854966

MIM	HGNC	e!Ensembl
603722	5959	ENSG00000070061

O95163

Protein name

Elongator complex protein 1 (ELP1) (IkappaB kinase complex-associated protein) (IKK complex-associated protein) (p150)

Protein function

Component of the elongator complex which is required for multiple tRNA modifications, including mcm5U (5-methoxycarbonylmethyl uridine), mcm5s2U (5-methoxycarbonylmethyl-2-thiouridine), and ncm5U (5-carbamoylmethyl uridine) (PubMed:29332244). Th

PDB

5CQR , 8PTX , 8PTY , 8PTZ , 8PU0

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF04762	IKI3	1 → 954	IKI3 family	Family

Sequence

MRNLKLFRTLEFRDIQGPGNPQCFSLRTEQGTVLIGSEHGLIEVDPVSREVKNEVSLVAE
GFLPEDGSGRIVGVQDLLDQESVCVATASGDVILCSLSTQQLECVGSVASGISVMSWSPD
QELVLLATGQQTLIMMTKDFEPILEQQIHQDDFGESKFITVGWGRKETQFHGSEGRQAAF
QMQMHESALPWDDHRPQVTWRGDGQFFAVSVVCPETGARKVRVWNREFALQSTSEPVAGL
GPALAWKPSGSLIASTQDKPNQQDIVFFEKNGLLHGHFTLPFLKDEVKVNDLLWNADSSV
LAVWLEDLQREESSIPKTCVQLWTVGNYHWYLKQSLSFSTCGKSKIVSLMWDPVTPYRLH
VLCQGWHYLAYDWHWTTDRSVGDNSSDLSNVAVIDGNRVLVTVFRQTVVPPPMCTYQLLF
PHPVNQVTFLAHPQKSNDLAVLDASNQISVYKCGDCPSADPTVKLGAVGGSGFKVCLRTP
HLEKRYKIQFENNEDQDVNPLKLGLLTWIEEDVFLAVSHSEFSPRSVIHHLTAASSEMDE
EHGQLNVSSSAAVDGVIISLCCNSKTKSVVLQLADGQIFKYLWESPSLAIKPWKNSGGFP
VRFPYPCTQTELAMIGEEECVLGLTDRCRFFINDIEVASNITSFAVYDEFLLLTTHSHTC
QCFCLRDASFKTLQAGLSSNHVSHGEVLRKVERGSRIVTVVPQDTKLVLQMPRGNLEVVH
HRALVLAQIRKWLDKLMFKEAFECMRKLRINLNLIYDHNPKVFLGNVETFIKQIDSVNHI
NLFFTELKEEDVTKTMYPAPVTSSVYLSRDPDGNKIDLVCDAMRAVMESINPHKYCLSIL
TSHVKKTTPELEIVLQKVHELQGNAPSDPDAVSAEEALKYLLHLVDVNELYDHSLGTYDF
DLVLMVAEKSQKDPKEYLPFLNTLKKMETNYQRFTIDKYLKRYEKAIGHLSKCGPEYFPE
CLNLIKDKNLYNEALKLYSPSSQQYQDISIAYGEHLMQEHMYEPAGLMFARCGAHEKALS
AFLTCGNWKQALCVAAQLNFTKDQLVGLGRTLAGKLVEQRKHIDAAMVLEECAQDYEEAV
LLLLEGAAWEEALRLVYKYNRLDIIETNVKPSILEAQKNYMAFLDSQTATFSRHKKRLLV
VRELKEQAQQAGLDDEVPHGQESDLFSETSSVVSGSEMSGKYSHSNSRISARSSKNRRKA
ERKKHSLKEGSPLEDLALLEALSEVVQNTENLKDEVYHILKVLFLFEFDEQGRELQKAFE
DTLQLMERSLPEIWTLTYQQNSATPVLGPNSTANSIMASYQQQKTSVPVLDAELFIPPKI
NRRTQWKLSLLD

Sequence length

1332

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Charcot-Marie-Tooth disease	Pathogenic; Likely pathogenic	rs111033171, rs137853022, rs28939712	RCV000789357 RCV000789660 RCV000789661	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ELP1-related disorder	Likely pathogenic; Pathogenic	rs1291760879, rs376078668	RCV003403403 RCV003411577	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial dysautonomia	Likely pathogenic; Pathogenic	rs2132025021, rs2118933859, rs1478450302, rs2132017099, rs1317221906, rs1390547777, rs1829561209, rs2132045613, rs2118907171, rs2118936334, rs762224071, rs1302114356, rs1564072540, rs1341613149, rs906880093 View all (107 more)	RCV001358712 RCV001826155 RCV001826136 RCV001826143 RCV004017831 View all (120 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Medulloblastoma	Likely pathogenic; Pathogenic	rs1478450302, rs2132013817, rs1317221906, rs1390547777, rs2132045613, rs1564110292, rs1291760879, rs762224071, rs1302114356, rs1564072540, rs1341613149, rs2131988821, rs372225464, rs769748960, rs2537884437 View all (27 more)	RCV005050363 RCV004557582 RCV005040263 RCV005040249 RCV005040262 View all (39 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ovarian serous cystadenocarcinoma	Pathogenic	rs111033171	RCV005887326	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary dysautonomia	Pathogenic	rs111033171	RCV005357084	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sarcoma	Pathogenic	rs111033171	RCV005887325	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (31)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSAUTONOMIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSAUTONOMIA, FAMILIAL	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Uncertain significance; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gaucher disease	Likely benign	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Germ cell tumor of testis	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary sensory and autonomic neuropathy	Conflicting classifications of pathogenicity; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III	—	HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RILEY-DAY SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS, UNSPECIFIED	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (1)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Dysautonomia Familial	Dysautonomia	Pubtator	15780940	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

ELP1 (elongator acetyltransferase complex subunit 1)