Q96DC8 (ECHD3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Enoyl-CoA hydratase domain-containing protein 3, mitochondrial

Gene names

Name:	ECHDC3
ORF Names:	PP1494, PP8332

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	303 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level

General annotation (Comments)

Subcellular location	Mitochondrion Potential.
Sequence similarities	Belongs to the enoyl-CoA hydratase/isomerase family.
Sequence caution	The sequence BAB14928.1 differs from that shown. Reason: Erroneous termination at position 230. Translated as Gln.

Ontologies

Keywords
Cellular component	Mitochondrion
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Transit peptide
Technical term	3D-structure Complete proteome Reference proteome
Gene Ontology (GO)
Cellular component	mitochondrion Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	catalytic activity Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q96DC8-1)

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: Q96DC8-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-131: Missing.

Note: No experimental confirmation available.

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Transit peptide

1 – 17

17

Mitochondrion Potential

Chain

18 – 303

286

Enoyl-CoA hydratase domain-containing protein 3, mitochondrial

PRO_0000333215

Natural variations

Alternative sequence

1 – 131

131

Missing in isoform 2.

VSP_033491

Natural variant

69

1

A → T. Ref.1 Ref.2 Ref.3 Ref.5 Ref.6
Corresponds to variant rs4750090 [ dbSNP | Ensembl ].

VAR_043126

Natural variant

151

1

A → T. Ref.1 Ref.2 Ref.3 Ref.5 Ref.6
Corresponds to variant rs7910140 [ dbSNP | Ensembl ].

VAR_043127

Natural variant

162

1

D → N.
Corresponds to variant rs35986488 [ dbSNP | Ensembl ].

VAR_043128

Experimental info

Sequence conflict

17

1

C → F in AAH01091. Ref.6

Sequence conflict

45

1

P → L in BAD96231. Ref.3

Secondary structure

1

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303

Helix Strand Turn

Details...

Beta strand

47 – 52

6

Beta strand

57 – 61

5

Helix

64 – 66

3

Helix

72 – 83

12

Turn

84 – 87

4

Beta strand

94 – 98

5

Helix

119 – 136

18

Beta strand

142 – 146

5

Helix

156 – 160

5

Beta strand

161 – 167

7

Beta strand

171 – 173

3

Helix

190 – 192

3

Helix

196 – 204

9

Helix

211 – 216

6

Beta strand

221 – 224

4

Helix

226 – 228

3

Helix

229 – 241

13

Helix

245 – 249

5

Helix

253 – 258

6

Helix

266 – 278

13

Helix

288 – 291

4

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified November 2, 2010. Version 2. Checksum: 18BD8888B96AA9BF	FASTA	303	32,634
	10 20 30 40 50 60 MAAVAVLRAF GASGPMCLRR GPWAQLPARF CSRDPAGAGR RESEPRPTSA RQLDGIRNIV 70 80 90 100 110 120 LSNPKKRNAL SLAMLKSLQS DILHDADSND LKVIIISAEG PVFSSGHDLK ELTEEQGRDY 130 140 150 160 170 180 HAEVFQTCSK VMMHIRNHPV PVIAMVNGLA AAAGCQLVAS CDIAVASDKS SFATPGVNVG 190 200 210 220 230 240 LFCSTPGVAL ARAVPRKVAL EMLFTGEPIS AQEALLHGLL SKVVPEAELQ EETMRIARKI 250 260 270 280 290 300 ASLSRPVVSL GKATFYKQLP QDLGTAYYLT SQAMVDNLAL RDGQEGITAF LQKRKPVWSH EPV
	Isoform 2 [UniParc]. Checksum: 490A10FABB40B62D	FASTA	172	18,380
	10 20 30 40 50 60 MMHIRNHPVP VIAMVNGLAA AAGCQLVASC DIAVASDKSS FATPGVNVGL FCSTPGVALA 70 80 90 100 110 120 RAVPRKVALE MLFTGEPISA QEALLHGLLS KVVPEAELQE ETMRIARKIA SLSRPVVSLG 130 140 150 160 170 KATFYKQLPQ DLGTAYYLTS QAMVDNLALR DGQEGITAFL QKRKPVWSHE PV

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"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: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANTS THR-69 AND THR-151. Tissue: Adipose tissue and Oesophagus.
[2]	"Large-scale cDNA transfection screening for genes related to cancer development and progression." Wan D., Gong Y., Qin W., Zhang P., Li J., Wei L., Zhou X., Li H., Qiu X., Zhong F., He L., Yu J., Yao G., Jiang H., Qian L., Yu Y., Shu H., Chen X. , Xu H., Guo M., Pan Z., Chen Y., Ge C., Yang S., Gu J. Proc. Natl. Acad. Sci. U.S.A. 101:15724-15729(2004) [PubMed: 15498874] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), VARIANTS THR-69 AND THR-151.
[3]	Suzuki Y., Sugano S., Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S. Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANTS THR-69 AND THR-151. Tissue: Adipose tissue.
[4]	"The DNA sequence and comparative analysis of human chromosome 10." Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J. , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J. Nature 429:375-381(2004) [PubMed: 15164054] [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], VARIANTS THR-69 AND THR-151.
[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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANTS THR-69 AND THR-151. Tissue: Lung and Placenta.
[7]	"Crystal structure of human enoyl coenzyme A hydratase domain-containing protein 3 (ECHDC3)." Structural genomics consortium (SGC) Submitted (FEB-2009) to the PDB data bank Cited for: X-RAY CRYSTALLOGRAPHY (2.30 ANGSTROMS) OF 37-300.
+	Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ

AK024562 mRNA. Translation: BAB14928.1. Sequence problems.
AK290902 mRNA. Translation: BAF83591.1.
AF275677 mRNA. Translation: AAG24387.1.
AF289604 mRNA. Translation: AAL55788.1.
AK222511 mRNA. Translation: BAD96231.1.
AL138898 Genomic DNA. Translation: CAH73456.1.
CH471072 Genomic DNA. Translation: EAW86341.1.
CH471072 Genomic DNA. Translation: EAW86342.1.
BC001091 mRNA. Translation: AAH01091.1.
BC009617 mRNA. Translation: AAH09617.1.

IPI

IPI00256376.
IPI00892718.

RefSeq

NP_078969.2. NM_024693.4.

UniGene

Hs.22242.

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
2VX2	X-ray	2.30	A/B/C/D/E/F/G/H/I	37-300	[»]

ProteinModelPortal

Q96DC8.

SMR

Q96DC8. Positions 45-300.

ModBase

Search...

Protein-protein interaction databases

IntAct

Q96DC8. 1 interaction.

STRING

Q96DC8.

Polymorphism databases

DMDM

311033376.

2D gel databases

REPRODUCTION-2DPAGE

IPI00256376.

Proteomic databases

PRIDE

Q96DC8.

Protocols and materials databases

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000379215; ENSP00000368517; ENSG00000134463.

GeneID

79746.

KEGG

hsa:79746.

UCSC

uc001ikw.2. human.
uc009xix.1. human.

Organism-specific databases

CTD

79746.

GeneCards

GC10P011784.

H-InvDB

HIX0008639.

HGNC

HGNC:23489. ECHDC3.

HPA

HPA038306.

neXtProt

NX_Q96DC8.

PharmGKB

PA134881215.

GenAtlas

Search...

Phylogenomic databases

GeneTree

ENSGT00580000081296.

HOGENOM

HBG748731.

HOVERGEN

HBG107834.

InParanoid

Q96DC8.

OMA

LRVIIIS.

OrthoDB

EOG4GF3FZ.

PhylomeDB

Q96DC8.

Gene expression databases

ArrayExpress

Q96DC8.

Bgee

Q96DC8.

CleanEx

HS_ECHDC3.

Genevestigator

Q96DC8.

Family and domain databases

InterPro

IPR001753. Crotonase_core.
[Graphical view]

Pfam

PF00378. ECH. 1 hit.
[Graphical view]

PROSITE

PS00166. ENOYL_COA_HYDRATASE. False negative.
[Graphical view]

ProtoNet

Search...

Other

NextBio

69177.

Entry information

Entry name

ECHD3_HUMAN

Accession

Primary (citable) accession number: Q96DC8
Secondary accession number(s): Q53HR9 , Q5W0J7, Q8WYY8, Q9BVL8, Q9H7G4

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 20, 2008
Last sequence update:	November 2, 2010
Last modified:	January 25, 2012
This is version 73 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.