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Ethylmalonyl-CoA decarboxylase

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Protein-coding gene in the species Homo sapiens
ECHDC1
Identifiers
AliasesECHDC1, HEL-S-76, MMCD, dJ351K20.2, ethylmalonyl-CoA decarboxylase 1
External IDsOMIM: 612136; MGI: 1277169; HomoloGene: 23106; GeneCards: ECHDC1; OMA:ECHDC1 - orthologs
EC number7.2.4.3
Gene location (Human)
Chromosome 6 (human)
Chr.Chromosome 6 (human)
Chromosome 6 (human)Genomic location for ECHDC1Genomic location for ECHDC1
Band6q22.33Start127,288,712 bp
End127,343,609 bp
Gene location (Mouse)
Chromosome 10 (mouse)
Chr.Chromosome 10 (mouse)
Chromosome 10 (mouse)Genomic location for ECHDC1Genomic location for ECHDC1
Band10 A4|10 16.59 cMStart29,189,162 bp
End29,223,465 bp
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • retinal pigment epithelium

  • palpebral conjunctiva

  • parotid gland

  • vulva

  • lower lobe of lung

  • mucosa of colon

  • mucosa of sigmoid colon

  • epithelium of colon

  • skin of thigh

  • germinal epithelium
Top expressed in
  • tunica adventitia of aorta

  • brown adipose tissue

  • spermatocyte

  • intercostal muscle

  • lip

  • interventricular septum

  • white adipose tissue

  • right kidney

  • left lobe of liver

  • subcutaneous adipose tissue
More reference expression data
BioGPS
n/a
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

55862

52665

Ensembl

ENSG00000093144

ENSMUSG00000019883

UniProt

Q9NTX5

Q9D9V3

RefSeq (mRNA)

NM_001002030
NM_001105544
NM_001105545
NM_001139510
NM_018479

NM_001110195
NM_025855

RefSeq (protein)

NP_001002030
NP_001099014
NP_001099015
NP_001132982
NP_060949

NP_001103665
NP_080131

Location (UCSC)Chr 6: 127.29 – 127.34 MbChr 10: 29.19 – 29.22 Mb
PubMed search
Wikidata
View/Edit HumanView/Edit Mouse
Ethylmalonyl-CoA decarboxylase
Identifiers
EC no.4.1.1.94
Databases
IntEnzIntEnz view
BRENDABRENDA entry
ExPASyNiceZyme view
KEGGKEGG entry
MetaCycmetabolic pathway
PRIAMprofile
PDB structuresRCSB PDB PDBe PDBsum
Search
PMCarticles
PubMedarticles
NCBIproteins

Ethylmalonyl-CoA decarboxylase (EC 4.1.1.94) is an enzyme with systematic name (S)-ethylmalonyl-CoA carboxy-lyase (butanoyl-CoA-forming). This enzyme catalyses the following chemical reaction

(S)-ethylmalonyl-CoA ⇌ {\displaystyle \rightleftharpoons } butanoyl-CoA + CO2

The vertebrate enzyme decarboxylates ethylmalonyl-CoA.

References

  1. ^ GRCh38: Ensembl release 89: ENSG00000093144 – Ensembl, May 2017
  2. ^ GRCm38: Ensembl release 89: ENSMUSG00000019883 – Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Linster CL, Noël G, Stroobant V, Vertommen D, Vincent MF, Bommer GT, Veiga-da-Cunha M, Van Schaftingen E (Dec 2011). "Ethylmalonyl-CoA decarboxylase, a new enzyme involved in metabolite proofreading". The Journal of Biological Chemistry. 286 (50): 42992–3003. doi:10.1074/jbc.m111.281527. PMC 3234807. PMID 22016388.

External links

Carbon–carbon lyases (EC 4.1)
4.1.1: Carboxy-lyases
4.1.2: Aldehyde-lyases
4.1.3: Oxo-acid-lyases
4.1.99: Other
Enzymes
Activity
Regulation
Classification
Kinetics
Types
Portal:


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