ECHDC3 (enoyl-CoA hydratase domain containing 3)

Gene

• Entrez ID: 79746
• Gene name: Enoyl-CoA hydratase domain containing 3
• Gene symbol: ECHDC3
• Synonyms (NCBI Gene): -
• Chromosome: 10
• Chromosome location: 10p14

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT443207	hsa-miR-4717-5p	PAR-CLIP	22100165
MIRT443206	hsa-miR-15a-3p	PAR-CLIP	22100165
MIRT443205	hsa-miR-105-5p	PAR-CLIP	22100165
MIRT443204	hsa-miR-7853-5p	PAR-CLIP	22100165
MIRT443203	hsa-miR-3926	PAR-CLIP	22100165
MIRT443202	hsa-miR-3119	PAR-CLIP	22100165
MIRT443201	hsa-miR-6806-5p	PAR-CLIP	22100165
MIRT443200	hsa-miR-5704	PAR-CLIP	22100165
MIRT443199	hsa-miR-7108-5p	PAR-CLIP	22100165
MIRT443197	hsa-miR-4474-3p	PAR-CLIP	22100165
MIRT443207	hsa-miR-4717-5p	PAR-CLIP	22100165
MIRT443206	hsa-miR-15a-3p	PAR-CLIP	22100165
MIRT443205	hsa-miR-105-5p	PAR-CLIP	22100165
MIRT443204	hsa-miR-7853-5p	PAR-CLIP	22100165
MIRT443203	hsa-miR-3926	PAR-CLIP	22100165
MIRT443202	hsa-miR-3119	PAR-CLIP	22100165
MIRT443201	hsa-miR-6806-5p	PAR-CLIP	22100165
MIRT443200	hsa-miR-5704	PAR-CLIP	22100165
MIRT443199	hsa-miR-7108-5p	PAR-CLIP	22100165
MIRT443197	hsa-miR-4474-3p	PAR-CLIP	22100165
MIRT951763	hsa-miR-224	CLIP-seq
MIRT951764	hsa-miR-425	CLIP-seq
MIRT1981841	hsa-miR-105	CLIP-seq
MIRT1981842	hsa-miR-136	CLIP-seq
MIRT1981843	hsa-miR-203	CLIP-seq
MIRT1981844	hsa-miR-2355-3p	CLIP-seq
MIRT1981845	hsa-miR-2355-5p	CLIP-seq
MIRT1981846	hsa-miR-3117-3p	CLIP-seq
MIRT1981847	hsa-miR-3159	CLIP-seq
MIRT1981848	hsa-miR-330-3p	CLIP-seq
MIRT1981849	hsa-miR-3679-3p	CLIP-seq
MIRT1981850	hsa-miR-3942-3p	CLIP-seq
MIRT1981851	hsa-miR-4272	CLIP-seq
MIRT1981852	hsa-miR-4468	CLIP-seq
MIRT1981853	hsa-miR-4646-3p	CLIP-seq
MIRT1981854	hsa-miR-4755-3p	CLIP-seq
MIRT1981855	hsa-miR-4764-3p	CLIP-seq
MIRT1981856	hsa-miR-618	CLIP-seq
MIRT1981857	hsa-miR-676	CLIP-seq
MIRT2216704	hsa-miR-1200	CLIP-seq
MIRT2216705	hsa-miR-1226	CLIP-seq
MIRT2216706	hsa-miR-1281	CLIP-seq
MIRT2216707	hsa-miR-197	CLIP-seq
MIRT1981846	hsa-miR-3117-3p	CLIP-seq
MIRT1981847	hsa-miR-3159	CLIP-seq
MIRT1981850	hsa-miR-3942-3p	CLIP-seq
MIRT2216708	hsa-miR-4324	CLIP-seq
MIRT1981852	hsa-miR-4468	CLIP-seq
MIRT2216709	hsa-miR-4733-3p	CLIP-seq
MIRT2216710	hsa-miR-544b	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004300	Function	Enoyl-CoA hydratase activity	ISS
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	ISS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006631	Process	Fatty acid metabolic process	IEA
GO:0006631	Process	Fatty acid metabolic process	ISS
GO:0016836	Function	Hydro-lyase activity	IBA
GO:1900078	Process	Positive regulation of cellular response to insulin stimulus	IMP	31010960

Other IDs

• MIM: 620756
• HGNC: 23489
• e!Ensembl: ENSG00000134463

Protein

• UniProt ID: Q96DC8
• Protein name: Enoyl-CoA hydratase domain-containing protein 3, mitochondrial
• Protein function: May play a role in fatty acid biosynthesis and insulin sensitivity.
• PDB: 2VX2
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00378	ECH_1	51 → 301	Enoyl-CoA hydratase/isomerase	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in adipocytes (PubMed:31010960). Expressed in blood cells, with higher expression in patients with low coronary lesions (PubMed:27586541). {ECO:0000269|PubMed:27586541, ECO:0000269|PubMed:31010960}.
• Sequence:

  MAAVAVLRAFGASGPMCLRRGPWAQLPARFCSRDPAGAGRRESEPRPTSARQLDGIRNIV
  LSNPKKRNALSLAMLKSLQSDILHDADSNDLKVIIISAEGPVFSSGHDLKELTEEQGRDY
  HAEVFQTCSKVMMHIRNHPVPVIAMVNGLAAAAGCQLVASCDIAVASDKSSFATPGVNVG
  LFCSTPGVALARAVPRKVALEMLFTGEPISAQEALLHGLLSKVVPEAELQEETMRIARKI
  ASLSRPVVSLGKATFYKQLPQDLGTAYYLTSQAMVDNLALRDGQEGITAFLQKRKPVWSH
  EPV

• Sequence length: 303

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
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANDROGENETIC ALOPECIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESTROGEN-RECEPTOR NEGATIVE BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESTROGEN-RECEPTOR POSITIVE BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LATE-ONSET ALZHEIMER'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEWY BODY DEMENTIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute Coronary Syndrome	Coronary Syndrome	BEFREE	27586541		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	28183528, 30258121, 33419465	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brain Diseases	Brain disease	Pubtator	33419465	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	35140327	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	27586541		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	23535507	Associate	★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	29986096, 31010960	Associate	★☆☆☆☆ Found in Text Mining only