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Protein

Ethylmalonyl-CoA decarboxylase

Gene

ECHDC1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Functioni

Decarboxylases ethylmalonyl-CoA decarboxylase, a potentially toxic metabolite, to form butyryl-CoA, suggesting it might be involved in metabolite proofreading. Also has methylmalonyl-CoA decarboxylase activity at lower level.1 Publication

Catalytic activityi

(S)-ethylmalonyl-CoA = butanoyl-CoA + CO2.
(S)-methylmalonyl-CoA = propanoyl-CoA + CO2.

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Lyase

Enzyme and pathway databases

BioCyciZFISH:ENSG00000093144-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Ethylmalonyl-CoA decarboxylase (EC:4.1.1.94)
Alternative name(s):
Enoyl-CoA hydratase domain-containing protein 1
Methylmalonyl-CoA decarboxylase (EC:4.1.1.41)
Short name:
MMCD
Gene namesi
Name:ECHDC1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

HGNCiHGNC:21489. ECHDC1.

Subcellular locationi

GO - Cellular componenti

  • cytosol Source: UniProtKB
  • extracellular exosome Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Organism-specific databases

DisGeNETi55862.
OpenTargetsiENSG00000093144.
PharmGKBiPA134871524.

Polymorphism and mutation databases

BioMutaiECHDC1.
DMDMi124007138.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002732461 – 307Ethylmalonyl-CoA decarboxylaseAdd BLAST307
Isoform 2 (identifier: Q9NTX5-2)
Initiator methionineiRemovedCombined sources
Isoform 5 (identifier: Q9NTX5-5)
Initiator methionineiRemovedCombined sources
Isoform 6 (identifier: Q9NTX5-6)
Initiator methionineiRemovedCombined sources

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei217N6-acetyllysine; alternateBy similarity1
Modified residuei217N6-succinyllysine; alternateBy similarity1
Modified residuei301N6-succinyllysineBy similarity1
Isoform 2 (identifier: Q9NTX5-2)
Modified residuei2N-acetylalanineCombined sources1
Isoform 5 (identifier: Q9NTX5-5)
Modified residuei2N-acetylalanineCombined sources1
Isoform 6 (identifier: Q9NTX5-6)
Modified residuei2N-acetylalanineCombined sources1

Keywords - PTMi

Acetylation

Proteomic databases

EPDiQ9NTX5.
MaxQBiQ9NTX5.
PaxDbiQ9NTX5.
PeptideAtlasiQ9NTX5.
PRIDEiQ9NTX5.

PTM databases

iPTMnetiQ9NTX5.
PhosphoSitePlusiQ9NTX5.

Expressioni

Gene expression databases

BgeeiENSG00000093144.
CleanExiHS_ECHDC1.
ExpressionAtlasiQ9NTX5. baseline and differential.
GenevisibleiQ9NTX5. HS.

Organism-specific databases

HPAiHPA035445.

Interactioni

Protein-protein interaction databases

BioGridi120964. 7 interactors.
IntActiQ9NTX5. 3 interactors.
STRINGi9606.ENSP00000436585.

Structurei

3D structure databases

ProteinModelPortaliQ9NTX5.
SMRiQ9NTX5.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Phylogenomic databases

eggNOGiKOG1680. Eukaryota.
COG1024. LUCA.
GeneTreeiENSGT00810000125525.
HOGENOMiHOG000007808.
HOVERGENiHBG054783.
InParanoidiQ9NTX5.
KOiK18426.
OMAiHMGLVPG.
OrthoDBiEOG091G0DFV.
PhylomeDBiQ9NTX5.
TreeFamiTF315986.

Family and domain databases

Gene3Di3.90.226.10. 1 hit.
InterProiIPR029045. ClpP/crotonase-like_dom.
IPR001753. Crotonase_core_superfam.
IPR018376. Enoyl-CoA_hyd/isom_CS.
[Graphical view]
PfamiPF00378. ECH_1. 1 hit.
[Graphical view]
SUPFAMiSSF52096. SSF52096. 1 hit.
PROSITEiPS00166. ENOYL_COA_HYDRATASE. 1 hit.
[Graphical view]

Sequences (6)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 6 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9NTX5-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MALKQEMAKS LLKTASLSGR TKLLHQTGLS LYSTSHGFYE EEVKKTLQQF
60 70 80 90 100
PGGSIDLQKE DNGIGILTLN NPSRMNAFSG VMMLQLLEKV IELENWTEGK
110 120 130 140 150
GLIVRGAKNT FSSGSDLNAV KSLGTPEDGM AVCMFMQNTL TRFMRLPLIS
160 170 180 190 200
VALVQGWALG GGAEFTTACD FRLMTPESKI RFVHKEMGII PSWGGTTRLV
210 220 230 240 250
EIIGSRQALK VLSGALKLDS KNALNIGMVE EVLQSSDETK SLEEAQEWLK
260 270 280 290 300
QFIQGPPEVI RALKKSVCSG RELYLEEALQ NERDLLGTVW GGPANLEAIA

KKGKFNK
Length:307
Mass (Da):33,698
Last modified:January 23, 2007 - v2
Checksum:i77A09FDE065FE0A4
GO
Isoform 2 (identifier: Q9NTX5-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-6: Missing.

Show »
Length:301
Mass (Da):32,997
Checksum:iFB931678ECFB2EDA
GO
Isoform 3 (identifier: Q9NTX5-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-81: Missing.

Note: No experimental confirmation available.
Show »
Length:226
Mass (Da):24,859
Checksum:iA2C02B29FEC517AA
GO
Isoform 4 (identifier: Q9NTX5-4) [UniParc]FASTAAdd to basket
Also known as: HEL-S-76

The sequence of this isoform differs from the canonical sequence as follows:
     1-81: Missing.
     128-307: DGMAVCMFMQ...AIAKKGKFNK → TSFNKCCAGSRLGIGWRSRIYYSM

Show »
Length:70
Mass (Da):7,745
Checksum:i97019CB346725D86
GO
Isoform 5 (identifier: Q9NTX5-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-6: Missing.
     128-307: DGMAVCMFMQ...AIAKKGKFNK → TSFNKCCAGSRLGIGWRSRIYYSM

Note: No experimental confirmation available.Combined sources
Show »
Length:145
Mass (Da):15,883
Checksum:i25FBCA2D6665D089
GO
Isoform 6 (identifier: Q9NTX5-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-6: Missing.
     125-144: TPEDGMAVCMFMQNTLTRFM → LQR

Note: No experimental confirmation available.Combined sources
Show »
Length:284
Mass (Da):31,089
Checksum:i667B60F58667A5C4
GO

Sequence cautioni

The sequence AAF67657 differs from that shown. Reason: Frameshift at positions 121, 123 and 125.Curated
The sequence CAI20295 differs from that shown. Reason: Erroneous gene model prediction.Curated
The sequence CAI20297 differs from that shown. Reason: Erroneous gene model prediction.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti243E → G in BAH14056 (PubMed:14702039).Curated1
Sequence conflicti263L → M in BAH14056 (PubMed:14702039).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0425811 – 81Missing in isoform 3 and isoform 4. 2 PublicationsAdd BLAST81
Alternative sequenceiVSP_0224981 – 6Missing in isoform 2, isoform 5 and isoform 6. 3 Publications6
Alternative sequenceiVSP_042582125 – 144TPEDG…LTRFM → LQR in isoform 6. 1 PublicationAdd BLAST20
Alternative sequenceiVSP_042583128 – 307DGMAV…GKFNK → TSFNKCCAGSRLGIGWRSRI YYSM in isoform 4 and isoform 5. 1 PublicationAdd BLAST180

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
EU668355 mRNA. Translation: ACF94508.1.
AL834469 mRNA. Translation: CAD39128.1.
AK303812 mRNA. Translation: BAH14056.1.
AF220192 mRNA. Translation: AAF67657.1. Frameshift.
AL109939 Genomic DNA. Translation: CAB76256.1.
AL109939 Genomic DNA. Translation: CAI20295.1. Sequence problems.
AL109939 Genomic DNA. Translation: CAI20297.1. Sequence problems.
AL109939 Genomic DNA. Translation: CAI20302.1.
AL109939 Genomic DNA. Translation: CAI20298.1.
CH471051 Genomic DNA. Translation: EAW48107.1.
BC003549 mRNA. Translation: AAH03549.1.
CCDSiCCDS34530.1. [Q9NTX5-5]
CCDS43504.1. [Q9NTX5-2]
CCDS47471.1. [Q9NTX5-1]
CCDS47472.1. [Q9NTX5-3]
CCDS55054.1. [Q9NTX5-4]
RefSeqiNP_001002030.1. NM_001002030.1. [Q9NTX5-2]
NP_001099014.1. NM_001105544.1. [Q9NTX5-3]
NP_001099015.1. NM_001105545.1. [Q9NTX5-4]
NP_001132982.1. NM_001139510.1. [Q9NTX5-1]
NP_060949.2. NM_018479.3. [Q9NTX5-5]
XP_005267104.1. XM_005267047.2. [Q9NTX5-2]
XP_005267105.1. XM_005267048.1. [Q9NTX5-2]
XP_005267107.1. XM_005267050.2. [Q9NTX5-5]
XP_016866545.1. XM_017011056.1. [Q9NTX5-3]
UniGeneiHs.486410.

Genome annotation databases

EnsembliENST00000368289; ENSP00000357272; ENSG00000093144. [Q9NTX5-5]
ENST00000368291; ENSP00000357274; ENSG00000093144. [Q9NTX5-5]
ENST00000430841; ENSP00000402492; ENSG00000093144. [Q9NTX5-2]
ENST00000454591; ENSP00000404866; ENSG00000093144. [Q9NTX5-3]
ENST00000454859; ENSP00000401751; ENSG00000093144. [Q9NTX5-2]
ENST00000474289; ENSP00000434908; ENSG00000093144. [Q9NTX5-2]
ENST00000528402; ENSP00000436109; ENSG00000093144. [Q9NTX5-4]
ENST00000531967; ENSP00000436585; ENSG00000093144. [Q9NTX5-1]
GeneIDi55862.
KEGGihsa:55862.
UCSCiuc003qax.4. human. [Q9NTX5-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
EU668355 mRNA. Translation: ACF94508.1.
AL834469 mRNA. Translation: CAD39128.1.
AK303812 mRNA. Translation: BAH14056.1.
AF220192 mRNA. Translation: AAF67657.1. Frameshift.
AL109939 Genomic DNA. Translation: CAB76256.1.
AL109939 Genomic DNA. Translation: CAI20295.1. Sequence problems.
AL109939 Genomic DNA. Translation: CAI20297.1. Sequence problems.
AL109939 Genomic DNA. Translation: CAI20302.1.
AL109939 Genomic DNA. Translation: CAI20298.1.
CH471051 Genomic DNA. Translation: EAW48107.1.
BC003549 mRNA. Translation: AAH03549.1.
CCDSiCCDS34530.1. [Q9NTX5-5]
CCDS43504.1. [Q9NTX5-2]
CCDS47471.1. [Q9NTX5-1]
CCDS47472.1. [Q9NTX5-3]
CCDS55054.1. [Q9NTX5-4]
RefSeqiNP_001002030.1. NM_001002030.1. [Q9NTX5-2]
NP_001099014.1. NM_001105544.1. [Q9NTX5-3]
NP_001099015.1. NM_001105545.1. [Q9NTX5-4]
NP_001132982.1. NM_001139510.1. [Q9NTX5-1]
NP_060949.2. NM_018479.3. [Q9NTX5-5]
XP_005267104.1. XM_005267047.2. [Q9NTX5-2]
XP_005267105.1. XM_005267048.1. [Q9NTX5-2]
XP_005267107.1. XM_005267050.2. [Q9NTX5-5]
XP_016866545.1. XM_017011056.1. [Q9NTX5-3]
UniGeneiHs.486410.

3D structure databases

ProteinModelPortaliQ9NTX5.
SMRiQ9NTX5.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120964. 7 interactors.
IntActiQ9NTX5. 3 interactors.
STRINGi9606.ENSP00000436585.

PTM databases

iPTMnetiQ9NTX5.
PhosphoSitePlusiQ9NTX5.

Polymorphism and mutation databases

BioMutaiECHDC1.
DMDMi124007138.

Proteomic databases

EPDiQ9NTX5.
MaxQBiQ9NTX5.
PaxDbiQ9NTX5.
PeptideAtlasiQ9NTX5.
PRIDEiQ9NTX5.

Protocols and materials databases

DNASUi55862.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000368289; ENSP00000357272; ENSG00000093144. [Q9NTX5-5]
ENST00000368291; ENSP00000357274; ENSG00000093144. [Q9NTX5-5]
ENST00000430841; ENSP00000402492; ENSG00000093144. [Q9NTX5-2]
ENST00000454591; ENSP00000404866; ENSG00000093144. [Q9NTX5-3]
ENST00000454859; ENSP00000401751; ENSG00000093144. [Q9NTX5-2]
ENST00000474289; ENSP00000434908; ENSG00000093144. [Q9NTX5-2]
ENST00000528402; ENSP00000436109; ENSG00000093144. [Q9NTX5-4]
ENST00000531967; ENSP00000436585; ENSG00000093144. [Q9NTX5-1]
GeneIDi55862.
KEGGihsa:55862.
UCSCiuc003qax.4. human. [Q9NTX5-1]

Organism-specific databases

CTDi55862.
DisGeNETi55862.
GeneCardsiECHDC1.
H-InvDBHIX0006203.
HGNCiHGNC:21489. ECHDC1.
HPAiHPA035445.
MIMi612136. gene.
neXtProtiNX_Q9NTX5.
OpenTargetsiENSG00000093144.
PharmGKBiPA134871524.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1680. Eukaryota.
COG1024. LUCA.
GeneTreeiENSGT00810000125525.
HOGENOMiHOG000007808.
HOVERGENiHBG054783.
InParanoidiQ9NTX5.
KOiK18426.
OMAiHMGLVPG.
OrthoDBiEOG091G0DFV.
PhylomeDBiQ9NTX5.
TreeFamiTF315986.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000093144-MONOMER.

Miscellaneous databases

ChiTaRSiECHDC1. human.
GenomeRNAii55862.
PROiQ9NTX5.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000093144.
CleanExiHS_ECHDC1.
ExpressionAtlasiQ9NTX5. baseline and differential.
GenevisibleiQ9NTX5. HS.

Family and domain databases

Gene3Di3.90.226.10. 1 hit.
InterProiIPR029045. ClpP/crotonase-like_dom.
IPR001753. Crotonase_core_superfam.
IPR018376. Enoyl-CoA_hyd/isom_CS.
[Graphical view]
PfamiPF00378. ECH_1. 1 hit.
[Graphical view]
SUPFAMiSSF52096. SSF52096. 1 hit.
PROSITEiPS00166. ENOYL_COA_HYDRATASE. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiECHD1_HUMAN
AccessioniPrimary (citable) accession number: Q9NTX5
Secondary accession number(s): A6NFJ5
, B7Z8S0, E9PEN7, E9PR31, F8W851, Q5TEF6, Q5TEF7, Q5TEG0, Q5TEG4, Q9NZ30, V9HW18
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 23, 2007
Last sequence update: January 23, 2007
Last modified: November 2, 2016
This is version 126 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.