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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	55862
Gene name	Ethylmalonyl-CoA decarboxylase 1
Gene symbol	ECHDC1
Synonyms (NCBI Gene)	HEL-S-76MMCDdJ351K20.2
Chromosome	6
Chromosome location	6q22.33

226

Show/Hide all (226)

miRTarBase ID	miRNA	Experiments	Reference
MIRT000835	hsa-miR-15a-5p	Microarray	18362358
MIRT000834	hsa-miR-16-5p	Microarray	18362358
MIRT048213	hsa-miR-196a-5p	CLASH	23622248
MIRT549856	hsa-miR-3646	PAR-CLIP	21572407
MIRT549855	hsa-miR-1252-3p	PAR-CLIP	21572407
MIRT549854	hsa-miR-5680	PAR-CLIP	21572407
MIRT549853	hsa-miR-3174	PAR-CLIP	21572407
MIRT549852	hsa-miR-5000-5p	PAR-CLIP	21572407
MIRT549851	hsa-let-7a-5p	PAR-CLIP	21572407
MIRT549850	hsa-let-7b-5p	PAR-CLIP	21572407
MIRT549849	hsa-let-7c-5p	PAR-CLIP	21572407
MIRT549848	hsa-let-7d-5p	PAR-CLIP	21572407
MIRT549847	hsa-let-7e-5p	PAR-CLIP	21572407
MIRT549846	hsa-let-7f-5p	PAR-CLIP	21572407
MIRT549845	hsa-let-7g-5p	PAR-CLIP	21572407
MIRT549844	hsa-let-7i-5p	PAR-CLIP	21572407
MIRT549842	hsa-miR-4458	PAR-CLIP	21572407
MIRT549843	hsa-miR-4500	PAR-CLIP	21572407
MIRT549841	hsa-miR-98-5p	PAR-CLIP	21572407
MIRT549840	hsa-miR-202-3p	PAR-CLIP	21572407
MIRT549839	hsa-miR-31-5p	PAR-CLIP	21572407
MIRT549837	hsa-miR-6809-5p	PAR-CLIP	21572407
MIRT549838	hsa-miR-5100	PAR-CLIP	21572407
MIRT549836	hsa-miR-3942-3p	PAR-CLIP	21572407
MIRT549835	hsa-miR-182-5p	PAR-CLIP	21572407
MIRT549856	hsa-miR-3646	PAR-CLIP	21572407
MIRT549855	hsa-miR-1252-3p	PAR-CLIP	21572407
MIRT549854	hsa-miR-5680	PAR-CLIP	21572407
MIRT549853	hsa-miR-3174	PAR-CLIP	21572407
MIRT549852	hsa-miR-5000-5p	PAR-CLIP	21572407
MIRT549851	hsa-let-7a-5p	PAR-CLIP	21572407
MIRT549850	hsa-let-7b-5p	PAR-CLIP	21572407
MIRT549849	hsa-let-7c-5p	PAR-CLIP	21572407
MIRT549848	hsa-let-7d-5p	PAR-CLIP	21572407
MIRT549847	hsa-let-7e-5p	PAR-CLIP	21572407
MIRT549846	hsa-let-7f-5p	PAR-CLIP	21572407
MIRT549845	hsa-let-7g-5p	PAR-CLIP	21572407
MIRT549844	hsa-let-7i-5p	PAR-CLIP	21572407
MIRT549842	hsa-miR-4458	PAR-CLIP	21572407
MIRT549843	hsa-miR-4500	PAR-CLIP	21572407
MIRT549841	hsa-miR-98-5p	PAR-CLIP	21572407
MIRT549840	hsa-miR-202-3p	PAR-CLIP	21572407
MIRT549839	hsa-miR-31-5p	PAR-CLIP	21572407
MIRT549837	hsa-miR-6809-5p	PAR-CLIP	21572407
MIRT549838	hsa-miR-5100	PAR-CLIP	21572407
MIRT549836	hsa-miR-3942-3p	PAR-CLIP	21572407
MIRT549835	hsa-miR-182-5p	PAR-CLIP	21572407
MIRT951712	hsa-miR-125a-5p	CLIP-seq
MIRT951713	hsa-miR-125b	CLIP-seq
MIRT951714	hsa-miR-137	CLIP-seq
MIRT951715	hsa-miR-15a	CLIP-seq
MIRT951716	hsa-miR-15b	CLIP-seq
MIRT951717	hsa-miR-16	CLIP-seq
MIRT951718	hsa-miR-195	CLIP-seq
MIRT951719	hsa-miR-2116	CLIP-seq
MIRT951720	hsa-miR-3120-5p	CLIP-seq
MIRT951721	hsa-miR-3154	CLIP-seq
MIRT951722	hsa-miR-3198	CLIP-seq
MIRT951723	hsa-miR-3685	CLIP-seq
MIRT951724	hsa-miR-375	CLIP-seq
MIRT951725	hsa-miR-384	CLIP-seq
MIRT951726	hsa-miR-421	CLIP-seq
MIRT951727	hsa-miR-424	CLIP-seq
MIRT951728	hsa-miR-4273	CLIP-seq
MIRT951729	hsa-miR-4286	CLIP-seq
MIRT951730	hsa-miR-4309	CLIP-seq
MIRT951731	hsa-miR-4319	CLIP-seq
MIRT951732	hsa-miR-432	CLIP-seq
MIRT951733	hsa-miR-450b-3p	CLIP-seq
MIRT951734	hsa-miR-4524	CLIP-seq
MIRT951735	hsa-miR-4633-3p	CLIP-seq
MIRT951736	hsa-miR-4662a-3p	CLIP-seq
MIRT951737	hsa-miR-4677-5p	CLIP-seq
MIRT951738	hsa-miR-4709-5p	CLIP-seq
MIRT951739	hsa-miR-4713-3p	CLIP-seq
MIRT951740	hsa-miR-4731-5p	CLIP-seq
MIRT951741	hsa-miR-4732-3p	CLIP-seq
MIRT951742	hsa-miR-4781-3p	CLIP-seq
MIRT951743	hsa-miR-497	CLIP-seq
MIRT951744	hsa-miR-503	CLIP-seq
MIRT951745	hsa-miR-548t	CLIP-seq
MIRT951746	hsa-miR-556-3p	CLIP-seq
MIRT951747	hsa-miR-578	CLIP-seq
MIRT951748	hsa-miR-638	CLIP-seq
MIRT951749	hsa-miR-646	CLIP-seq
MIRT951750	hsa-miR-670	CLIP-seq
MIRT951751	hsa-miR-769-3p	CLIP-seq
MIRT951752	hsa-miR-875-5p	CLIP-seq
MIRT951753	hsa-miR-890	CLIP-seq
MIRT951754	hsa-miR-935	CLIP-seq
MIRT951721	hsa-miR-3154	CLIP-seq
MIRT951722	hsa-miR-3198	CLIP-seq
MIRT951730	hsa-miR-4309	CLIP-seq
MIRT951732	hsa-miR-432	CLIP-seq
MIRT951735	hsa-miR-4633-3p	CLIP-seq
MIRT951736	hsa-miR-4662a-3p	CLIP-seq
MIRT1981839	hsa-miR-4716-5p	CLIP-seq
MIRT1981840	hsa-miR-587	CLIP-seq
MIRT951753	hsa-miR-890	CLIP-seq
MIRT951715	hsa-miR-15a	CLIP-seq
MIRT951716	hsa-miR-15b	CLIP-seq
MIRT951717	hsa-miR-16	CLIP-seq
MIRT951718	hsa-miR-195	CLIP-seq
MIRT951719	hsa-miR-2116	CLIP-seq
MIRT951721	hsa-miR-3154	CLIP-seq
MIRT951722	hsa-miR-3198	CLIP-seq
MIRT951724	hsa-miR-375	CLIP-seq
MIRT951727	hsa-miR-424	CLIP-seq
MIRT951728	hsa-miR-4273	CLIP-seq
MIRT951730	hsa-miR-4309	CLIP-seq
MIRT951732	hsa-miR-432	CLIP-seq
MIRT951734	hsa-miR-4524	CLIP-seq
MIRT951736	hsa-miR-4662a-3p	CLIP-seq
MIRT951737	hsa-miR-4677-5p	CLIP-seq
MIRT951743	hsa-miR-497	CLIP-seq
MIRT951744	hsa-miR-503	CLIP-seq
MIRT951749	hsa-miR-646	CLIP-seq
MIRT951753	hsa-miR-890	CLIP-seq
MIRT2520676	hsa-miR-101	CLIP-seq
MIRT2520677	hsa-miR-105	CLIP-seq
MIRT2520678	hsa-miR-1257	CLIP-seq
MIRT2520679	hsa-miR-1286	CLIP-seq
MIRT2520680	hsa-miR-1297	CLIP-seq
MIRT2520681	hsa-miR-140-5p	CLIP-seq
MIRT2520682	hsa-miR-141	CLIP-seq
MIRT2520683	hsa-miR-144	CLIP-seq
MIRT2520684	hsa-miR-192	CLIP-seq
MIRT2520685	hsa-miR-200a	CLIP-seq
MIRT2520686	hsa-miR-2114	CLIP-seq
MIRT2520687	hsa-miR-215	CLIP-seq
MIRT2520688	hsa-miR-219-2-3p	CLIP-seq
MIRT2520689	hsa-miR-2277-3p	CLIP-seq
MIRT2520690	hsa-miR-26a	CLIP-seq
MIRT2520691	hsa-miR-26b	CLIP-seq
MIRT2520692	hsa-miR-2964a-3p	CLIP-seq
MIRT2520693	hsa-miR-299-5p	CLIP-seq
MIRT2520694	hsa-miR-3120-3p	CLIP-seq
MIRT2520695	hsa-miR-3148	CLIP-seq
MIRT2520696	hsa-miR-3149	CLIP-seq
MIRT2520697	hsa-miR-3171	CLIP-seq
MIRT2520698	hsa-miR-3673	CLIP-seq
MIRT2520699	hsa-miR-371-5p	CLIP-seq
MIRT2520700	hsa-miR-371b-5p	CLIP-seq
MIRT2520701	hsa-miR-3942-5p	CLIP-seq
MIRT2520702	hsa-miR-3977	CLIP-seq
MIRT2520703	hsa-miR-433	CLIP-seq
MIRT2520704	hsa-miR-4464	CLIP-seq
MIRT2520705	hsa-miR-4465	CLIP-seq
MIRT2520706	hsa-miR-4495	CLIP-seq
MIRT2520707	hsa-miR-4502	CLIP-seq
MIRT2520708	hsa-miR-4503	CLIP-seq
MIRT2520709	hsa-miR-4684-3p	CLIP-seq
MIRT2520710	hsa-miR-4703-5p	CLIP-seq
MIRT2520711	hsa-miR-4722-5p	CLIP-seq
MIRT2520712	hsa-miR-4748	CLIP-seq
MIRT2520713	hsa-miR-4775	CLIP-seq
MIRT951742	hsa-miR-4781-3p	CLIP-seq
MIRT2520714	hsa-miR-4795-3p	CLIP-seq
MIRT2520715	hsa-miR-513c	CLIP-seq
MIRT2520716	hsa-miR-514b-5p	CLIP-seq
MIRT2520717	hsa-miR-548a-3p	CLIP-seq
MIRT2520718	hsa-miR-548c-3p	CLIP-seq
MIRT2520719	hsa-miR-548e	CLIP-seq
MIRT2520720	hsa-miR-548f	CLIP-seq
MIRT2520721	hsa-miR-548p	CLIP-seq
MIRT951745	hsa-miR-548t	CLIP-seq
MIRT2520722	hsa-miR-568	CLIP-seq
MIRT2520723	hsa-miR-581	CLIP-seq
MIRT2520724	hsa-miR-582-5p	CLIP-seq
MIRT2520725	hsa-miR-590-3p	CLIP-seq
MIRT2520726	hsa-miR-659	CLIP-seq
MIRT2520727	hsa-miR-873	CLIP-seq
MIRT2520728	hsa-miR-9	CLIP-seq
MIRT2520729	hsa-miR-944	CLIP-seq
MIRT2520676	hsa-miR-101	CLIP-seq
MIRT2520677	hsa-miR-105	CLIP-seq
MIRT2520678	hsa-miR-1257	CLIP-seq
MIRT2520679	hsa-miR-1286	CLIP-seq
MIRT2520680	hsa-miR-1297	CLIP-seq
MIRT2520681	hsa-miR-140-5p	CLIP-seq
MIRT2520682	hsa-miR-141	CLIP-seq
MIRT2520683	hsa-miR-144	CLIP-seq
MIRT2520684	hsa-miR-192	CLIP-seq
MIRT2520685	hsa-miR-200a	CLIP-seq
MIRT2520686	hsa-miR-2114	CLIP-seq
MIRT2520687	hsa-miR-215	CLIP-seq
MIRT2520688	hsa-miR-219-2-3p	CLIP-seq
MIRT2520689	hsa-miR-2277-3p	CLIP-seq
MIRT2520690	hsa-miR-26a	CLIP-seq
MIRT2520691	hsa-miR-26b	CLIP-seq
MIRT2520692	hsa-miR-2964a-3p	CLIP-seq
MIRT2520693	hsa-miR-299-5p	CLIP-seq
MIRT2520694	hsa-miR-3120-3p	CLIP-seq
MIRT2520695	hsa-miR-3148	CLIP-seq
MIRT2520696	hsa-miR-3149	CLIP-seq
MIRT2520697	hsa-miR-3171	CLIP-seq
MIRT2520698	hsa-miR-3673	CLIP-seq
MIRT2520699	hsa-miR-371-5p	CLIP-seq
MIRT2520700	hsa-miR-371b-5p	CLIP-seq
MIRT2520701	hsa-miR-3942-5p	CLIP-seq
MIRT2520702	hsa-miR-3977	CLIP-seq
MIRT2520703	hsa-miR-433	CLIP-seq
MIRT2520704	hsa-miR-4464	CLIP-seq
MIRT2520705	hsa-miR-4465	CLIP-seq
MIRT2520706	hsa-miR-4495	CLIP-seq
MIRT2520707	hsa-miR-4502	CLIP-seq
MIRT2520708	hsa-miR-4503	CLIP-seq
MIRT2520709	hsa-miR-4684-3p	CLIP-seq
MIRT2520710	hsa-miR-4703-5p	CLIP-seq
MIRT2520711	hsa-miR-4722-5p	CLIP-seq
MIRT2520712	hsa-miR-4748	CLIP-seq
MIRT2520713	hsa-miR-4775	CLIP-seq
MIRT951742	hsa-miR-4781-3p	CLIP-seq
MIRT2520714	hsa-miR-4795-3p	CLIP-seq
MIRT2520715	hsa-miR-513c	CLIP-seq
MIRT2520716	hsa-miR-514b-5p	CLIP-seq
MIRT2520718	hsa-miR-548c-3p	CLIP-seq
MIRT2520721	hsa-miR-548p	CLIP-seq
MIRT2520722	hsa-miR-568	CLIP-seq
MIRT2520723	hsa-miR-581	CLIP-seq
MIRT2520724	hsa-miR-582-5p	CLIP-seq
MIRT2520725	hsa-miR-590-3p	CLIP-seq
MIRT2520726	hsa-miR-659	CLIP-seq
MIRT2520727	hsa-miR-873	CLIP-seq
MIRT2520728	hsa-miR-9	CLIP-seq
MIRT2520729	hsa-miR-944	CLIP-seq

Show/Hide all (11)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003824	Function	Catalytic activity	IEA
GO:0004492	Function	Methyl/ethyl malonyl-CoA decarboxylase activity	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	ISS
GO:0006635	Process	Fatty acid beta-oxidation	IBA
GO:0016829	Function	Lyase activity	IEA
GO:0016831	Function	Carboxy-lyase activity	IEA
GO:0016831	Function	Carboxy-lyase activity	ISS

MIM	HGNC	e!Ensembl
612136	21489	ENSG00000093144

Q9NTX5

Protein name

Ethylmalonyl-CoA decarboxylase (EC 4.1.1.94) (Enoyl-CoA hydratase domain-containing protein 1) (Methylmalonyl-CoA decarboxylase) (MMCD)

Protein function

Decarboxylates ethylmalonyl-CoA, a potentially toxic metabolite, to form butyryl-CoA, suggesting it might be involved in metabolite proofreading (PubMed:22016388). Acts preferentially on (S)-ethylmalonyl-CoA but also has some activity on the (R)

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00378	ECH_1	59 → 292	Enoyl-CoA hydratase/isomerase	Domain

Sequence

MALKQEMAKSLLKTASLSGRTKLLHQTGLSLYSTSHGFYEEEVKKTLQQFPGGSIDLQKE
DNGIGILTLNNPSRMNAFSGVMMLQLLEKVIELENWTEGKGLIVRGAKNTFSSGSDLNAV
KSLGTPEDGMAVCMFMQNTLTRFMRLPLISVALVQGWALGGGAEFTTACDFRLMTPESKI
RFVHKEMGIIPSWGGTTRLVEIIGSRQALKVLSGALKLDSKNALNIGMVEEVLQSSDETK
SLEEAQEWLKQFIQGPPEVIRALKKSVCSGRELYLEEALQNERDLLGTVWGGPANLEAIA
KKGKFNK

Sequence length

307

Interactions

View interactions

	KEGG
	Propanoate metabolism Metabolic pathways

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 (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Deficiency of butyryl-CoA dehydrogenase	Likely pathogenic	rs770887258, rs368710940, rs1783424526	RCV001290987 RCV001290986 RCV001290985	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (2)

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.
COLOR VISION DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MELANOMA	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (11)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Bladder Neoplasm	Bladder Neoplasm	BEFREE	29391886		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	18326623, 19517271		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	18326623	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	29391886		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	19517271		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto disease	Pubtator	34493981	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	18326623, 19517271		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	19517271		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	29391886		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	CTD_human_DG	22535842		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ovarian neoplasm	Ovarian neoplasm	BEFREE	19517271		★★★★★ ★☆☆☆☆ Found in Text Mining only

ECHDC1 (ethylmalonyl-CoA decarboxylase 1)