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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	54859
Gene name	Elongator acetyltransferase complex subunit 6
Gene symbol	ELP6
Synonyms (NCBI Gene)	C3orf75TMEM103
Chromosome	3
Chromosome location	3p21.31

Show/Hide all (52)

miRTarBase ID	miRNA	Experiments	Reference
MIRT664442	hsa-miR-374c-3p	HITS-CLIP	23824327
MIRT664441	hsa-miR-4695-5p	HITS-CLIP	23824327
MIRT664440	hsa-miR-4779	HITS-CLIP	23824327
MIRT664439	hsa-miR-5588-3p	HITS-CLIP	23824327
MIRT664438	hsa-miR-2114-5p	HITS-CLIP	23824327
MIRT664437	hsa-miR-5690	HITS-CLIP	23824327
MIRT664436	hsa-miR-764	HITS-CLIP	23824327
MIRT664435	hsa-miR-20b-3p	HITS-CLIP	23824327
MIRT664434	hsa-miR-3665	HITS-CLIP	23824327
MIRT664433	hsa-miR-214-5p	HITS-CLIP	23824327
MIRT664432	hsa-miR-1207-5p	HITS-CLIP	23824327
MIRT664431	hsa-miR-4763-3p	HITS-CLIP	23824327
MIRT664430	hsa-miR-4736	HITS-CLIP	23824327
MIRT664429	hsa-miR-1271-3p	HITS-CLIP	23824327
MIRT664428	hsa-miR-550a-3-5p	HITS-CLIP	23824327
MIRT664427	hsa-miR-550a-5p	HITS-CLIP	23824327
MIRT664426	hsa-miR-4266	HITS-CLIP	23824327
MIRT664425	hsa-miR-7977	HITS-CLIP	23824327
MIRT664424	hsa-miR-7150	HITS-CLIP	23824327
MIRT664423	hsa-miR-665	HITS-CLIP	23824327
MIRT443638	hsa-miR-4738-3p	PAR-CLIP	22100165
MIRT443637	hsa-miR-4786-3p	PAR-CLIP	22100165
MIRT443636	hsa-miR-4434	PAR-CLIP	22100165
MIRT443634	hsa-miR-4516	PAR-CLIP	22100165
MIRT443635	hsa-miR-5703	PAR-CLIP	22100165
MIRT443633	hsa-miR-4531	PAR-CLIP	22100165
MIRT664442	hsa-miR-374c-3p	HITS-CLIP	23824327
MIRT664441	hsa-miR-4695-5p	HITS-CLIP	23824327
MIRT664440	hsa-miR-4779	HITS-CLIP	23824327
MIRT664439	hsa-miR-5588-3p	HITS-CLIP	23824327
MIRT664438	hsa-miR-2114-5p	HITS-CLIP	23824327
MIRT664437	hsa-miR-5690	HITS-CLIP	23824327
MIRT664436	hsa-miR-764	HITS-CLIP	23824327
MIRT664435	hsa-miR-20b-3p	HITS-CLIP	23824327
MIRT664434	hsa-miR-3665	HITS-CLIP	23824327
MIRT664433	hsa-miR-214-5p	HITS-CLIP	23824327
MIRT664432	hsa-miR-1207-5p	HITS-CLIP	23824327
MIRT664431	hsa-miR-4763-3p	HITS-CLIP	23824327
MIRT664430	hsa-miR-4736	HITS-CLIP	23824327
MIRT664429	hsa-miR-1271-3p	HITS-CLIP	23824327
MIRT664428	hsa-miR-550a-3-5p	HITS-CLIP	23824327
MIRT664427	hsa-miR-550a-5p	HITS-CLIP	23824327
MIRT664426	hsa-miR-4266	HITS-CLIP	23824327
MIRT664425	hsa-miR-7977	HITS-CLIP	23824327
MIRT664424	hsa-miR-7150	HITS-CLIP	23824327
MIRT664423	hsa-miR-665	HITS-CLIP	23824327
MIRT443638	hsa-miR-4738-3p	PAR-CLIP	22100165
MIRT443637	hsa-miR-4786-3p	PAR-CLIP	22100165
MIRT443636	hsa-miR-4434	PAR-CLIP	22100165
MIRT443634	hsa-miR-4516	PAR-CLIP	22100165
MIRT443635	hsa-miR-5703	PAR-CLIP	22100165
MIRT443633	hsa-miR-4531	PAR-CLIP	22100165

Show/Hide all (32)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002098	Process	TRNA wobble uridine modification	IEA
GO:0002098	Process	TRNA wobble uridine modification	NAS	27847465
GO:0005515	Function	Protein binding	IPI	22854966, 33961781
GO:0005634	Component	Nucleus	IDA	22645656
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA	22645656
GO:0006412	Process	Translation	IEA
GO:0006417	Process	Regulation of translation	NAS	22854966
GO:0006457	Process	Protein folding	IEA
GO:0006914	Process	Autophagy	IEA
GO:0006915	Process	Apoptotic process	IEA
GO:0006986	Process	Response to unfolded protein	IEA
GO:0007626	Process	Locomotory behavior	IEA
GO:0008033	Process	TRNA processing	IEA
GO:0010992	Process	Ubiquitin recycling	IEA
GO:0030335	Process	Positive regulation of cell migration	IEA
GO:0030335	Process	Positive regulation of cell migration	ISS
GO:0033554	Process	Cellular response to stress	IEA
GO:0033588	Component	Elongator holoenzyme complex	IBA
GO:0033588	Component	Elongator holoenzyme complex	IDA	22854966
GO:0033588	Component	Elongator holoenzyme complex	IEA
GO:0033588	Component	Elongator holoenzyme complex	IPI	22854966
GO:0046530	Process	Photoreceptor cell differentiation	IEA
GO:0048877	Process	Homeostasis of number of retina cells	IEA
GO:0050885	Process	Neuromuscular process controlling balance	IEA
GO:0050905	Process	Neuromuscular process	IEA
GO:0051402	Process	Neuron apoptotic process	IEA
GO:0060041	Process	Retina development in camera-type eye	IEA
GO:0061744	Process	Motor behavior	IEA
GO:0097352	Process	Autophagosome maturation	IEA
GO:0141084	Process	Inflammasome-mediated signaling pathway	IEA

MIM	HGNC	e!Ensembl
615020	25976	ENSG00000163832

Q0PNE2

Protein name

Elongator complex protein 6 (Angiotonin-transactivated protein 1) (Protein TMEM103)

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

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF09807	ELP6	2 → 251	Elongation complex protein 6	Family

Sequence

MFVELNNLLNTTPDRAEQGKLTLLCDAKTDGSFLVHHFLSFYLKANCKVCFVALIQSFSH
YSIVGQKLGVSLTMARERGQLVFLEGLKSAVDVVFQAQKEPHPLQFLREANAGNLKPLFE
FVREALKPVDSGEARWTYPVLLVDDLSVLLSLGMGAVAVLDFIHYCRATVCWELKGNMVV
LVHDSGDAEDEENDILLNGLSHQSHLILRAEGLATGFCRDVHGQLRILWRRPSQPAVHRD
QSFTYQYKIQDKSVSFFAKGMSPAVL

Sequence length

266

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 Unknown Diseases (1)

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.
CROHN'S DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (4)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	9165217		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	22854966		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	22854966	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	9165217		★★★★★ ★☆☆☆☆ Found in Text Mining only

ELP6 (elongator acetyltransferase complex subunit 6)