Q9NTX5 (ECHD1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended 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

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	307 AA.
Sequence status	Complete.
Protein existence	Evidence 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 activityx at lower level. Ref.8
Catalytic activity	(S)-ethylmalonyl-CoA = butanoyl-CoA + CO2. (S)-methylmalonyl-CoA = propanoyl-CoA + CO2.
Subcellular location	Cytoplasm › cytosol 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 component	Cytoplasm
Coding sequence diversity	Alternative splicing
Molecular function	Lyase
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular_component	cytosol Inferred from sequence or structural similarity. Source: UniProtKB
Molecular_function	carboxy-lyase activity Inferred from sequence or structural similarity. Source: UniProtKB methylmalonyl-CoA decarboxylase activity Inferred from electronic annotation. Source: 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)

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

Note: No experimental confirmation available.

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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 307	307	Ethylmalonyl-CoA decarboxylase		PRO_0000273246
Natural variations
	Alternative sequence	1 – 81	81	Missing in isoform 3 and isoform 4.		VSP_042581
	Alternative sequence	1 – 6	6	Missing in isoform 2, isoform 5 and isoform 6.		VSP_022498
	Alternative sequence	125 – 144	20	TPEDG…LTRFM → LQR in isoform 6.		VSP_042582
	Alternative sequence	128 – 307	180	DGMAV…GKFNK → TSFNKCCAGSRLGIGWRSRI YYSM in isoform 4 and isoform 5.		VSP_042583
Experimental info
	Sequence conflict	243	1	E → G in BAH14056. Ref.2
	Sequence conflict	263	1	L → M in BAH14056. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified January 23, 2007. Version 2. Checksum: 77A09FDE065FE0A4	FASTA	307	33,698
	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
	Isoform 2 [UniParc]. Checksum: FB931678ECFB2EDA	FASTA	301	32,997
	10 20 30 40 50 60 MAKSLLKTAS LSGRTKLLHQ TGLSLYSTSH GFYEEEVKKT LQQFPGGSID LQKEDNGIGI 70 80 90 100 110 120 LTLNNPSRMN AFSGVMMLQL LEKVIELENW TEGKGLIVRG AKNTFSSGSD LNAVKSLGTP 130 140 150 160 170 180 EDGMAVCMFM QNTLTRFMRL PLISVALVQG WALGGGAEFT TACDFRLMTP ESKIRFVHKE 190 200 210 220 230 240 MGIIPSWGGT TRLVEIIGSR QALKVLSGAL KLDSKNALNI GMVEEVLQSS DETKSLEEAQ 250 260 270 280 290 300 EWLKQFIQGP PEVIRALKKS VCSGRELYLE EALQNERDLL GTVWGGPANL EAIAKKGKFN K
	Isoform 3 [UniParc]. Checksum: A2C02B29FEC517AA	FASTA	226	24,859
	10 20 30 40 50 60 MMLQLLEKVI ELENWTEGKG LIVRGAKNTF SSGSDLNAVK SLGTPEDGMA VCMFMQNTLT 70 80 90 100 110 120 RFMRLPLISV ALVQGWALGG GAEFTTACDF RLMTPESKIR FVHKEMGIIP SWGGTTRLVE 130 140 150 160 170 180 IIGSRQALKV LSGALKLDSK NALNIGMVEE VLQSSDETKS LEEAQEWLKQ FIQGPPEVIR 190 200 210 220 ALKKSVCSGR ELYLEEALQN ERDLLGTVWG GPANLEAIAK KGKFNK
	Isoform 4 [UniParc]. Checksum: 97019CB346725D86	FASTA	70	7,745
	10 20 30 40 50 60 MMLQLLEKVI ELENWTEGKG LIVRGAKNTF SSGSDLNAVK SLGTPETSFN KCCAGSRLGI 70 GWRSRIYYSM
	Isoform 5 [UniParc]. Checksum: 25FBCA2D6665D089	FASTA	145	15,883
	10 20 30 40 50 60 MAKSLLKTAS LSGRTKLLHQ TGLSLYSTSH GFYEEEVKKT LQQFPGGSID LQKEDNGIGI 70 80 90 100 110 120 LTLNNPSRMN AFSGVMMLQL LEKVIELENW TEGKGLIVRG AKNTFSSGSD LNAVKSLGTP 130 140 ETSFNKCCAG SRLGIGWRSR IYYSM
	Isoform 6 [UniParc]. Checksum: 667B60F58667A5C4	FASTA	284	31,089
	10 20 30 40 50 60 MAKSLLKTAS LSGRTKLLHQ TGLSLYSTSH GFYEEEVKKT LQQFPGGSID LQKEDNGIGI 70 80 90 100 110 120 LTLNNPSRMN AFSGVMMLQL LEKVIELENW TEGKGLIVRG AKNTFSSGSD LNAVKSLGLQ 130 140 150 160 170 180 RRLPLISVAL VQGWALGGGA EFTTACDFRL MTPESKIRFV HKEMGIIPSW GGTTRLVEII 190 200 210 220 230 240 GSRQALKVLS GALKLDSKNA LNIGMVEEVL QSSDETKSLE EAQEWLKQFI QGPPEVIRAL 250 260 270 280 KKSVCSGREL YLEEALQNER DLLGTVWGGP ANLEAIAKKG KFNK

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"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.
[2]	"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. , 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.
[3]	"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.
[4]	"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. , 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].
[5]	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. , 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].
[6]	"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.
[7]	"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].
[8]	"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.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	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.
IPI	IPI00302688. IPI00550928.
RefSeq	NP_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.
UniGene	Hs.486410.
3D structure databases
ProteinModelPortal	Q9NTX5.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9NTX5. 2 interactions.
STRING	9606.ENSP00000357278.
PTM databases
PhosphoSite	Q9NTX5.
Polymorphism databases
DMDM	124007138.
Proteomic databases
PaxDb	Q9NTX5.
PRIDE	Q9NTX5.
Protocols and materials databases
DNASU	55862.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000309620; ENSP00000311115; ENSG00000093144. ENST00000368289; ENSP00000357272; ENSG00000093144. ENST00000368291; ENSP00000357274; ENSG00000093144. ENST00000430841; ENSP00000402492; ENSG00000093144. ENST00000454591; ENSP00000404866; ENSG00000093144. ENST00000454859; ENSP00000401751; ENSG00000093144. ENST00000474289; ENSP00000434908; ENSG00000093144. ENST00000528402; ENSP00000436109; ENSG00000093144. ENST00000531967; ENSP00000436585; ENSG00000093144.
GeneID	55862.
KEGG	hsa:55862.
UCSC	uc003qax.3. human.
Organism-specific databases
CTD	55862.
GeneCards	GC06M127609.
H-InvDB	HIX0006203.
HGNC	HGNC:21489. ECHDC1.
HPA	HPA035445.
MIM	612136. gene.
neXtProt	NX_Q9NTX5.
PharmGKB	PA134871524.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG1024.
HOGENOM	HOG000007808.
HOVERGEN	HBG054783.
OMA	MGLVPGW.
Gene expression databases
ArrayExpress	Q9NTX5.
Bgee	Q9NTX5.
CleanEx	HS_ECHDC1.
Genevestigator	Q9NTX5.
Family and domain databases
InterPro	IPR001753. Crotonase_core_superfam. IPR018376. Enoyl-CoA_hyd/isom_CS. [Graphical view]
Pfam	PF00378. ECH. 1 hit. [Graphical view]
PROSITE	PS00166. ENOYL_COA_HYDRATASE. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	ECHDC1. human.
GenomeRNAi	55862.
NextBio	61169.
SOURCE	Search...

Entry information

Entry name

ECHD1_HUMAN

Accession

Primary (citable) accession number: Q9NTX5
Secondary accession number(s): A6NFJ5 , B7Z8S0, E9PEN7, E9PR31, F8W851, Q5TEF6, Q5TEF7, Q5TEG0, Q5TEG4, Q9NZ30

Entry history

Integrated into UniProtKB/Swiss-Prot:	January 23, 2007
Last sequence update:	January 23, 2007
Last modified:	May 1, 2013
This is version 93 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.