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Q9NTX5 (ECHD1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 102. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Ethylmalonyl-CoA decarboxylase

EC=4.1.1.94
Alternative name(s):
Enoyl-CoA hydratase domain-containing protein 1
Methylmalonyl-CoA decarboxylase
Short name=MMCD
EC=4.1.1.41
Gene names
Name:ECHDC1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length307 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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. Ref.9

Catalytic activity

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

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

Subcellular location

Cytoplasmcytosol By similarity.

Sequence similarities

Belongs to the enoyl-CoA hydratase/isomerase family.

Sequence caution

The sequence AAF67657.1 differs from that shown. Reason: Frameshift at positions 121, 123 and 125.

The sequence CAI20295.1 differs from that shown. Reason: Erroneous gene model prediction.

The sequence CAI20297.1 differs from that shown. Reason: Erroneous gene model prediction.

Ontologies

Keywords
   Cellular componentCytoplasm
   Coding sequence diversityAlternative splicing
   Molecular functionLyase
   PTMAcetylation
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Cellular_componentcytosol

Inferred from sequence or structural similarity. Source: UniProtKB

   Molecular_functioncarboxy-lyase activity

Inferred from sequence or structural similarity. Source: UniProtKB

methylmalonyl-CoA decarboxylase activity

Inferred from electronic annotation. Source: UniProtKB-EC

Complete GO annotation...

Alternative products

This entry describes 6 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9NTX5-1)

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.
Isoform 2 (identifier: Q9NTX5-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-6: Missing.
Isoform 3 (identifier: Q9NTX5-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-81: Missing.
Note: No experimental confirmation available.
Isoform 4 (identifier: Q9NTX5-4)

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
Isoform 5 (identifier: Q9NTX5-5)

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.
Isoform 6 (identifier: Q9NTX5-6)

The sequence of this isoform differs from the canonical sequence as follows:
     1-6: Missing.
     125-144: TPEDGMAVCMFMQNTLTRFM → LQR
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 307307Ethylmalonyl-CoA decarboxylase
PRO_0000273246

Amino acid modifications

Modified residue2171N6-acetyllysine; alternate By similarity
Modified residue2171N6-succinyllysine; alternate By similarity
Modified residue3011N6-succinyllysine By similarity

Natural variations

Alternative sequence1 – 8181Missing in isoform 3 and isoform 4.
VSP_042581
Alternative sequence1 – 66Missing in isoform 2, isoform 5 and isoform 6.
VSP_022498
Alternative sequence125 – 14420TPEDG…LTRFM → LQR in isoform 6.
VSP_042582
Alternative sequence128 – 307180DGMAV…GKFNK → TSFNKCCAGSRLGIGWRSRI YYSM in isoform 4 and isoform 5.
VSP_042583

Experimental info

Sequence conflict2431E → G in BAH14056. Ref.3
Sequence conflict2631L → M in BAH14056. Ref.3

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified January 23, 2007. Version 2.
Checksum: 77A09FDE065FE0A4

FASTA30733,698
        10         20         30         40         50         60 
MALKQEMAKS LLKTASLSGR TKLLHQTGLS LYSTSHGFYE EEVKKTLQQF PGGSIDLQKE 

        70         80         90        100        110        120 
DNGIGILTLN NPSRMNAFSG VMMLQLLEKV IELENWTEGK GLIVRGAKNT FSSGSDLNAV 

       130        140        150        160        170        180 
KSLGTPEDGM AVCMFMQNTL TRFMRLPLIS VALVQGWALG GGAEFTTACD FRLMTPESKI 

       190        200        210        220        230        240 
RFVHKEMGII PSWGGTTRLV EIIGSRQALK VLSGALKLDS KNALNIGMVE EVLQSSDETK 

       250        260        270        280        290        300 
SLEEAQEWLK QFIQGPPEVI RALKKSVCSG RELYLEEALQ NERDLLGTVW GGPANLEAIA 


KKGKFNK 

« Hide

Isoform 2 [UniParc].

Checksum: FB931678ECFB2EDA
Show »

FASTA30132,997
Isoform 3 [UniParc].

Checksum: A2C02B29FEC517AA
Show »

FASTA22624,859
Isoform 4 (HEL-S-76) [UniParc].

Checksum: 97019CB346725D86
Show »

FASTA707,745
Isoform 5 [UniParc].

Checksum: 25FBCA2D6665D089
Show »

FASTA14515,883
Isoform 6 [UniParc].

Checksum: 667B60F58667A5C4
Show »

FASTA28431,089

References

« Hide 'large scale' references
[1]Li J.Y., Wang H.Y., Liu F.J., Liu J.
Submitted (APR-2008) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4).
Tissue: Epididymis.
[2]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
Tissue: Melanoma.
[3]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
Tissue: Liver.
[4]"A novel gene expressed in human adrenal gland."
Xiao H., Song H., Gao G., Ren S., Chen Z., Han Z.
Submitted (DEC-1999) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 6).
Tissue: Hypothalamus.
[5]"The DNA sequence and analysis of human chromosome 6."
Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D. expand/collapse author list , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.
Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[7]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
Tissue: Skin.
[8]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[9]"Ethylmalonyl-CoA decarboxylase, a new enzyme involved in metabolite proofreading."
Linster C.L., Noel G., Stroobant V., Vertommen D., Vincent M.F., Bommer G.T., Veiga-da-Cunha M., Van Schaftingen E.
J. Biol. Chem. 286:42992-43003(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION.
[10]"N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB."
Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A., Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E., Timmerman E., Prieto J., Arnesen T., Sherman F., Gevaert K., Aldabe R.
Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_001002030.1. NM_001002030.1.
NP_001099014.1. NM_001105544.1.
NP_001099015.1. NM_001105545.1.
NP_001132982.1. NM_001139510.1.
NP_060949.2. NM_018479.3.
XP_005267104.1. XM_005267047.1.
XP_005267105.1. XM_005267048.1.
XP_005267107.1. XM_005267050.1.
UniGeneHs.486410.

3D structure databases

ProteinModelPortalQ9NTX5.
SMRQ9NTX5. Positions 57-285.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid120964. 3 interactions.
IntActQ9NTX5. 2 interactions.
STRING9606.ENSP00000357278.

PTM databases

PhosphoSiteQ9NTX5.

Polymorphism databases

DMDM124007138.

Proteomic databases

PaxDbQ9NTX5.
PRIDEQ9NTX5.

Protocols and materials databases

DNASU55862.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000309620; ENSP00000311115; ENSG00000093144. [Q9NTX5-6]
ENST00000368289; 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]
GeneID55862.
KEGGhsa:55862.
UCSCuc003qax.3. human. [Q9NTX5-1]
uc003qay.4. human. [Q9NTX5-5]
uc010kez.3. human. [Q9NTX5-4]

Organism-specific databases

CTD55862.
GeneCardsGC06M127609.
H-InvDBHIX0006203.
HGNCHGNC:21489. ECHDC1.
HPAHPA035445.
MIM612136. gene.
neXtProtNX_Q9NTX5.
PharmGKBPA134871524.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG1024.
HOGENOMHOG000007808.
HOVERGENHBG054783.
OMAHKHMGLV.
OrthoDBEOG79W95T.
PhylomeDBQ9NTX5.
TreeFamTF315986.

Gene expression databases

ArrayExpressQ9NTX5.
BgeeQ9NTX5.
CleanExHS_ECHDC1.
GenevestigatorQ9NTX5.

Family and domain databases

InterProIPR001753. Crotonase_core_superfam.
IPR018376. Enoyl-CoA_hyd/isom_CS.
[Graphical view]
PfamPF00378. ECH. 1 hit.
[Graphical view]
PROSITEPS00166. ENOYL_COA_HYDRATASE. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSECHDC1. human.
GenomeRNAi55862.
NextBio61169.
PROQ9NTX5.
SOURCESearch...

Entry information

Entry nameECHD1_HUMAN
AccessionPrimary (citable) accession number: Q9NTX5
Secondary accession number(s): A6NFJ5 expand/collapse secondary AC list , B7Z8S0, E9PEN7, E9PR31, F8W851, Q5TEF6, Q5TEF7, Q5TEG0, Q5TEG4, Q9NZ30, V9HW18
Entry history
Integrated into UniProtKB/Swiss-Prot: January 23, 2007
Last sequence update: January 23, 2007
Last modified: April 16, 2014
This is version 102 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human chromosome 6

Human chromosome 6: entries, gene names and cross-references to MIM