ELP5 (elongator acetyltransferase complex subunit 5)

Gene

• Entrez ID: 23587
• Gene name: Elongator acetyltransferase complex subunit 5
• Gene symbol: ELP5
• Synonyms (NCBI Gene): C17orf81, DERP6, HSPC002, MST071, MSTP071
• Chromosome: 17
• Chromosome location: 17p13.1

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT050466	hsa-miR-22-3p	CLASH	23622248

Gene ontology (GO)

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:0005515	Function	Protein binding	IPI	16713569, 22854966, 32814053, 33961781
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	22854966
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IDA	22854966
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA
GO:0006400	Process	TRNA modification	IBA
GO:0006417	Process	Regulation of translation	NAS	22854966
GO:0008033	Process	TRNA processing	IEA
GO:0030335	Process	Positive regulation of cell migration	IEA
GO:0030335	Process	Positive regulation of cell migration	ISS
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

Other IDs

• MIM: 615019
• HGNC: 30617
• e!Ensembl: ENSG00000170291

Protein

• UniProt ID: Q8TE02
• Protein name: Elongator complex protein 5 (Dermal papilla-derived protein 6) (S-phase 2 protein)
• 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
  PF10483	Elong_Iki1	17 → 218	Elongator subunit Iki1	Family
  PF10483	Elong_Iki1	211 → 298	Elongator subunit Iki1	Family

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitously expressed with high levels in heart, brain, liver, skeletal muscle and testis.
• Sequence:

  MTPSEGARAGTGRELEMLDSLLALGGLVLLRDSVEWEGRSLLKALVKKSALCGEQVHILG
  CEVSEEEFREGFDSDINNRLVYHDFFRDPLNWSKTEEAFPGGPLGALRAMCKRTDPVPVT
  IALDSLSWLLLRLPCTTLCQVLHAVSHQDSCPGDSSSVGKVSVLGLLHEELHGPGPVGAL
  SSLAQTEVTLGGTMGQASAHILCRRPRQRPTDQTQWFSILPDFSLDLQEGPSVESQPYSD
  PHIPPVDPTTHLTFNLHLSKKEREARDSLILPFQFSSEKQQALLRPRPGQATSHIFYEPD
  AYDDLDQEDPDDDLDI

• Sequence length: 316

Associated diseases

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	22276153	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	25759378		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	25759378		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	25759378	Associate	★☆☆☆☆ Found in Text Mining only
Gallbladder Carcinoma	Gallbladder cancer	BEFREE	31792210		★☆☆☆☆ Found in Text Mining only
Gallbladder Neoplasms	Gallbladder neoplasm	Pubtator	31792210	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gallbladder	Gallbladder cancer	BEFREE	31792210		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	22854966		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	22854966	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	25759378	Associate	★☆☆☆☆ Found in Text Mining only