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

1175

Show/Hide Causal Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Charcot-Marie-Tooth disease	Pathogenic; Likely pathogenic	rs111033171, rs137853022, rs28939712	RCV000789357 RCV000789660 RCV000789661
ELP1-related disorder	Likely pathogenic; Pathogenic	rs1291760879, rs376078668	RCV003403403 RCV003411577
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 RCV005040249 RCV002282535 RCV005040262 RCV001580728 RCV005614744 RCV002492122 RCV005050444 RCV005050438 RCV002497863 RCV002271702 RCV005040433 RCV002507707 RCV002503378 RCV002302502 RCV002306519 RCV002306569 RCV002306605 RCV002306644 RCV002306699 RCV002306718 RCV002306728 RCV002306731 RCV002306774 RCV002306803 RCV002306804 RCV002309595 RCV002309618 RCV002309630 RCV002309967 RCV002309994 RCV002307892 RCV002307893 RCV002308060 RCV002308070 RCV002308092 RCV002308250 RCV002308325 RCV002309106 RCV002309182 RCV002309219 RCV002309235 RCV002309303 RCV002309304 RCV002309338 RCV002309342 RCV002309351 RCV002306955 RCV002306998 RCV002307017 RCV002307076 RCV002307269 RCV002307283 RCV002307285 RCV002307313 RCV002310065 RCV002310412 RCV002310483 RCV002310484 RCV002310565 RCV002308384 RCV005045275 RCV005042874 RCV004017950 RCV000006458 RCV000006459 RCV000006460 RCV005045130 RCV005047720 RCV005047731 RCV005051367 RCV005637040 RCV005051411 RCV005040609 RCV004587996 RCV000409912 RCV000410939 RCV000409095 RCV000411836 RCV000412398 RCV000793636 RCV000588759 RCV000667505 RCV000672450 RCV000667416 RCV000672968 RCV000668411 RCV000667470 RCV000674490 RCV000674659 RCV000673467 RCV000671254 RCV000667419 RCV000667461 RCV000668488 RCV000667504 RCV000667502 RCV000674672 RCV000667471 RCV000668015 RCV000667528 RCV000667498 RCV000674829 RCV000673955 RCV000667413 RCV000668489 RCV000667989 RCV000673191 RCV000668110 RCV000669523 RCV000669335 RCV000667503 RCV000667469 RCV000667539 RCV000667495 RCV005047059 RCV000806459 RCV002505601 RCV002480739 RCV002504257 RCV005614497
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 RCV001730181 RCV001730182 RCV002492122 RCV005050444 RCV005050438 RCV002497863 RCV005040433 RCV002507707 RCV002503378 RCV005050559 RCV005045275 RCV005042874 RCV005601951 RCV003444194 RCV002482833 RCV005045130 RCV005047720 RCV005047731 RCV005051367 RCV004787007 RCV005051411 RCV005040609 RCV005040703 RCV005044872 RCV005055127 RCV002493094 RCV005049651 RCV005046869 RCV003325211 RCV002499163 RCV002499191 RCV005046871 RCV002254707 RCV002485537 RCV005047059 RCV005049700 RCV002505601 RCV002480739 RCV002290642
Ovarian serous cystadenocarcinoma	Pathogenic	rs111033171	RCV005887326
Primary dysautonomia	Pathogenic	rs111033171	RCV005357084
Sarcoma	Pathogenic	rs111033171	RCV005887325

Show/Hide Unknown Diseases (22)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Likely benign; Benign	rs117286243, rs2275627, rs7029072, rs59112775	RCV005911417 RCV005916608 RCV005919516 RCV005917093
Cervical cancer	Benign; Conflicting classifications of pathogenicity	rs7029072, rs59112775, rs148535504	RCV005919518 RCV005917096 RCV005901436
Cholangiocarcinoma	Benign	rs2275627, rs3780508, rs3780509	RCV005916616 RCV005905742 RCV005905736
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	rs2275627, rs59112775	RCV005916618 RCV005917105
Familial cancer of breast	Uncertain significance; Benign	rs150819862, rs1981268	RCV005931952 RCV005902314
Familial pancreatic carcinoma	Benign	rs2275627, rs59112775	RCV005916611 RCV005917098
Gastric cancer	Benign	rs59112775, rs838825, rs1341215	RCV005917100 RCV005925010 RCV005905733
Gaucher disease	Likely benign	rs758321016	RCV001277372
Germ cell tumor of testis	Benign	rs2304779	RCV005905740
Hepatocellular carcinoma	Benign	rs2304779	RCV005905737
Hereditary sensory and autonomic neuropathy	Conflicting classifications of pathogenicity; Benign	rs111936933, rs139703788, rs35455790	RCV001271221 RCV001276240 RCV001276236
Lung cancer	Benign	rs59112775	RCV005917103
Lymphoma	Benign	rs2275627, rs59112775	RCV005916613 RCV005917101
Malignant lymphoma, large B-cell, diffuse	Benign	rs2275627, rs838825, rs3763644	RCV005916612 RCV005925009 RCV005905734
Malignant tumor of esophagus	Benign; Likely benign	rs7029072, rs59112775, rs758761513	RCV005919517 RCV005917094 RCV005903096
Melanoma	Uncertain significance	rs145484092	RCV005900474
Nonpapillary renal cell carcinoma	Benign	rs2275627, rs59112775	RCV005916609 RCV005917095
Ovarian cancer	Benign	rs2275627, rs59112775	RCV005916610 RCV005917097
Thymoma	Benign; Uncertain significance	rs2275627, rs59112775, rs749365565	RCV005916615 RCV005917102 RCV005928572
Uterine carcinosarcoma	Benign	rs2275627, rs3780508, rs3780509, rs2304779	RCV005916614 RCV005905741 RCV005905735 RCV005905739
Uterine corpus endometrial carcinoma	Benign	rs2275627, rs7029072, rs59112775	RCV005916617 RCV005919520 RCV005917104
Uveal melanoma	Benign	rs2304779	RCV005905738

Show/Hide Text Mining Associations (24)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Asthma	Associate	22325360
Autism Spectrum Disorder	Associate	34590699
Carcinoma Non Small Cell Lung	Associate	30989732
Central Nervous System Neoplasms	Associate	38139220
Colorectal Neoplasms	Associate	18430410
Developmental Disabilities	Associate	36864284
Dysautonomia Familial	Associate	10090896, 11179008, 11179021, 12058026, 12577200, 15780940, 16713582, 20671422, 21098405, 21209961, 21559466, 21775922, 23159879, 23711097, 24825044 View all (14 more)
Dysautonomia Familial	Inhibit	21187979
Epileptic Syndromes	Associate	24825044
Hereditary Sensory and Autonomic Neuropathies	Associate	12577200, 19651702
Hirschsprung Disease	Associate	20361209
Hypertensive Retinopathy	Associate	28395083
Intellectual Disability	Associate	36864284
Lung Neoplasms	Associate	30989732
Medulloblastoma	Associate	32296180, 36864284, 36961676
Melanoma	Associate	22854966
Mitochondrial Diseases	Associate	28395083
Neuroblastoma	Associate	20671422, 21559466
Neurodegenerative Diseases	Associate	27841875
Neurofibromatosis Noonan syndrome	Associate	36864284
Optic Nerve Diseases	Associate	28395083
Pathological Conditions Anatomical	Associate	36864284
Peripheral Nervous System Diseases	Associate	26437462, 32281945
Prostatic Neoplasms	Associate	21875279

ELP1 (elongator acetyltransferase complex subunit 1)