ECHD3_HUMAN
ID ECHD3_HUMAN Reviewed; 303 AA.
AC Q96DC8; Q53HR9; Q5W0J7; Q8WYY8; Q9BVL8; Q9H7G4;
DT 20-MAY-2008, integrated into UniProtKB/Swiss-Prot.
DT 02-NOV-2010, sequence version 2.
DT 03-AUG-2022, entry version 142.
DE RecName: Full=Enoyl-CoA hydratase domain-containing protein 3, mitochondrial {ECO:0000305};
DE Flags: Precursor;
GN Name=ECHDC3 {ECO:0000312|HGNC:HGNC:23489}; ORFNames=PP1494, PP8332;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANTS THR-69 AND
RP THR-151.
RC TISSUE=Adipose tissue, and Esophagus;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), AND VARIANTS
RP THR-69 AND THR-151.
RX PubMed=15498874; DOI=10.1073/pnas.0404089101;
RA Wan D., Gong Y., Qin W., Zhang P., Li J., Wei L., Zhou X., Li H., Qiu X.,
RA Zhong F., He L., Yu J., Yao G., Jiang H., Qian L., Yu Y., Shu H., Chen X.,
RA Xu H., Guo M., Pan Z., Chen Y., Ge C., Yang S., Gu J.;
RT "Large-scale cDNA transfection screening for genes related to cancer
RT development and progression.";
RL Proc. Natl. Acad. Sci. U.S.A. 101:15724-15729(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANTS THR-69 AND
RP THR-151.
RC TISSUE=Adipose tissue;
RA Suzuki Y., Sugano S., Totoki Y., Toyoda A., Takeda T., Sakaki Y.,
RA Tanaka A., Yokoyama S.;
RL Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15164054; DOI=10.1038/nature02462;
RA Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L.,
RA Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K.,
RA Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L.,
RA Taylor A., Battles J., Bird C.P., Ainscough R., Almeida J.P.,
RA Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y.,
RA Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N.,
RA Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A.,
RA Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C.,
RA Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D.,
RA Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C.,
RA Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K.,
RA Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A.,
RA Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S.,
RA McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S.,
RA Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V.,
RA Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A.,
RA Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M.,
RA Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A.,
RA Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P.,
RA Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y.,
RA Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D.,
RA Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.;
RT "The DNA sequence and comparative analysis of human chromosome 10.";
RL Nature 429:375-381(2004).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND VARIANTS THR-69 AND
RP THR-151.
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANTS THR-69 AND
RP THR-151.
RC TISSUE=Lung, and Placenta;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [7]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T.,
RA Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
RN [8]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Liver;
RX PubMed=24275569; DOI=10.1016/j.jprot.2013.11.014;
RA Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L.,
RA Ye M., Zou H.;
RT "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver
RT phosphoproteome.";
RL J. Proteomics 96:253-262(2014).
RN [9]
RP TISSUE SPECIFICITY.
RX PubMed=27586541; DOI=10.1186/s12944-016-0312-6;
RA Duarte M.K., de Araujo J.N., Duarte V.H., de Oliveira K.M.,
RA de Oliveira J.M., Carioca A.A., Bortolin R.H., Rezende A.A., Hirata M.H.,
RA Hirata R.D., Waitzberg D.L., Lima S.C., Luchessi A.D., Silbiger V.N.;
RT "The relationship of the oleic acid level and ECHDC3 mRNA expression with
RT the extent of coronary lesion.";
RL Lipids Health Dis. 15:144-144(2016).
RN [10]
RP FUNCTION, AND TISSUE SPECIFICITY.
RX PubMed=31010960; DOI=10.2337/db18-1229;
RA Sharma N.K., Chuang Key C.C., Civelek M., Wabitsch M., Comeau M.E.,
RA Langefeld C.D., Parks J.S., Das S.K.;
RT "Genetic Regulation of enoyl-CoA hydratase Domain-Containing 3 in Adipose
RT Tissue Determines Insulin Sensitivity in African Americans and Europeans.";
RL Diabetes 68:1508-1522(2019).
RN [11]
RP X-RAY CRYSTALLOGRAPHY (2.30 ANGSTROMS) OF 37-300.
RG Structural genomics consortium (SGC);
RT "Crystal structure of human enoyl coenzyme A hydratase domain-containing
RT protein 3 (ECHDC3).";
RL Submitted (FEB-2009) to the PDB data bank.
CC -!- FUNCTION: May play a role in fatty acid biosynthesis and insulin
CC sensitivity. {ECO:0000269|PubMed:31010960}.
CC -!- SUBCELLULAR LOCATION: Mitochondrion {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q96DC8-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q96DC8-2; Sequence=VSP_033491;
CC -!- TISSUE SPECIFICITY: Expressed in adipocytes (PubMed:31010960).
CC Expressed in blood cells, with higher expression in patients with low
CC coronary lesions (PubMed:27586541). {ECO:0000269|PubMed:27586541,
CC ECO:0000269|PubMed:31010960}.
CC -!- SIMILARITY: Belongs to the enoyl-CoA hydratase/isomerase family.
CC {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAB14928.1; Type=Erroneous termination; Note=Truncated C-terminus.; Evidence={ECO:0000305};
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; AK024562; BAB14928.1; ALT_SEQ; mRNA.
DR EMBL; AK290902; BAF83591.1; -; mRNA.
DR EMBL; AF275677; AAG24387.1; -; mRNA.
DR EMBL; AF289604; AAL55788.1; -; mRNA.
DR EMBL; AK222511; BAD96231.1; -; mRNA.
DR EMBL; AL138898; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471072; EAW86341.1; -; Genomic_DNA.
DR EMBL; CH471072; EAW86342.1; -; Genomic_DNA.
DR EMBL; BC001091; AAH01091.1; -; mRNA.
DR EMBL; BC009617; AAH09617.1; -; mRNA.
DR CCDS; CCDS7084.1; -. [Q96DC8-1]
DR RefSeq; NP_078969.2; NM_024693.4. [Q96DC8-1]
DR PDB; 2VX2; X-ray; 2.30 A; A/B/C/D/E/F/G/H/I=37-300.
DR PDBsum; 2VX2; -.
DR AlphaFoldDB; Q96DC8; -.
DR SMR; Q96DC8; -.
DR BioGRID; 122858; 20.
DR IntAct; Q96DC8; 2.
DR STRING; 9606.ENSP00000368517; -.
DR iPTMnet; Q96DC8; -.
DR PhosphoSitePlus; Q96DC8; -.
DR BioMuta; ECHDC3; -.
DR DMDM; 311033376; -.
DR REPRODUCTION-2DPAGE; IPI00256376; -.
DR EPD; Q96DC8; -.
DR jPOST; Q96DC8; -.
DR MassIVE; Q96DC8; -.
DR MaxQB; Q96DC8; -.
DR PaxDb; Q96DC8; -.
DR PeptideAtlas; Q96DC8; -.
DR PRIDE; Q96DC8; -.
DR ProteomicsDB; 76276; -. [Q96DC8-1]
DR ProteomicsDB; 76277; -. [Q96DC8-2]
DR Antibodypedia; 24584; 35 antibodies from 15 providers.
DR DNASU; 79746; -.
DR Ensembl; ENST00000379215.9; ENSP00000368517.4; ENSG00000134463.15. [Q96DC8-1]
DR GeneID; 79746; -.
DR KEGG; hsa:79746; -.
DR MANE-Select; ENST00000379215.9; ENSP00000368517.4; NM_024693.5; NP_078969.3.
DR UCSC; uc001ikw.5; human. [Q96DC8-1]
DR CTD; 79746; -.
DR DisGeNET; 79746; -.
DR GeneCards; ECHDC3; -.
DR HGNC; HGNC:23489; ECHDC3.
DR HPA; ENSG00000134463; Tissue enhanced (liver, skeletal muscle).
DR neXtProt; NX_Q96DC8; -.
DR NIAGADS; ENSG00000134463; -.
DR OpenTargets; ENSG00000134463; -.
DR PharmGKB; PA134881215; -.
DR VEuPathDB; HostDB:ENSG00000134463; -.
DR eggNOG; KOG1682; Eukaryota.
DR GeneTree; ENSGT00940000157926; -.
DR InParanoid; Q96DC8; -.
DR OMA; SCDMVVC; -.
DR OrthoDB; 804458at2759; -.
DR PhylomeDB; Q96DC8; -.
DR TreeFam; TF313089; -.
DR PathwayCommons; Q96DC8; -.
DR SignaLink; Q96DC8; -.
DR BioGRID-ORCS; 79746; 16 hits in 1084 CRISPR screens.
DR ChiTaRS; ECHDC3; human.
DR EvolutionaryTrace; Q96DC8; -.
DR GenomeRNAi; 79746; -.
DR Pharos; Q96DC8; Tdark.
DR PRO; PR:Q96DC8; -.
DR Proteomes; UP000005640; Chromosome 10.
DR RNAct; Q96DC8; protein.
DR Bgee; ENSG00000134463; Expressed in right lobe of liver and 158 other tissues.
DR ExpressionAtlas; Q96DC8; baseline and differential.
DR Genevisible; Q96DC8; HS.
DR GO; GO:0005739; C:mitochondrion; ISS:UniProtKB.
DR GO; GO:0004300; F:enoyl-CoA hydratase activity; ISS:UniProtKB.
DR GO; GO:0016836; F:hydro-lyase activity; IBA:GO_Central.
DR GO; GO:0006631; P:fatty acid metabolic process; ISS:UniProtKB.
DR GO; GO:1900078; P:positive regulation of cellular response to insulin stimulus; IMP:UniProtKB.
DR Gene3D; 1.10.12.10; -; 1.
DR InterPro; IPR029045; ClpP/crotonase-like_dom_sf.
DR InterPro; IPR001753; Enoyl-CoA_hydra/iso.
DR InterPro; IPR014748; Enoyl-CoA_hydra_C.
DR Pfam; PF00378; ECH_1; 1.
DR SUPFAM; SSF52096; SSF52096; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Alternative splicing; Fatty acid metabolism;
KW Lipid metabolism; Mitochondrion; Reference proteome; Transit peptide.
FT TRANSIT 1..17
FT /note="Mitochondrion"
FT /evidence="ECO:0000255"
FT CHAIN 18..303
FT /note="Enoyl-CoA hydratase domain-containing protein 3,
FT mitochondrial"
FT /id="PRO_0000333215"
FT MOD_RES 110
FT /note="N6-succinyllysine"
FT /evidence="ECO:0000250|UniProtKB:Q9D7J9"
FT VAR_SEQ 1..131
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15498874"
FT /id="VSP_033491"
FT VARIANT 69
FT /note="A -> T (in dbSNP:rs4750090)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:15498874,
FT ECO:0000269|Ref.3, ECO:0000269|Ref.5"
FT /id="VAR_043126"
FT VARIANT 151
FT /note="A -> T (in dbSNP:rs7910140)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:15498874,
FT ECO:0000269|Ref.3, ECO:0000269|Ref.5"
FT /id="VAR_043127"
FT VARIANT 162
FT /note="D -> N (in dbSNP:rs35986488)"
FT /id="VAR_043128"
FT CONFLICT 17
FT /note="C -> F (in Ref. 6; AAH01091)"
FT /evidence="ECO:0000305"
FT CONFLICT 45
FT /note="P -> L (in Ref. 3; BAD96231)"
FT /evidence="ECO:0000305"
FT STRAND 47..53
FT /evidence="ECO:0007829|PDB:2VX2"
FT STRAND 56..61
FT /evidence="ECO:0007829|PDB:2VX2"
FT HELIX 64..66
FT /evidence="ECO:0007829|PDB:2VX2"
FT HELIX 72..83
FT /evidence="ECO:0007829|PDB:2VX2"
FT TURN 84..87
FT /evidence="ECO:0007829|PDB:2VX2"
FT STRAND 93..104
FT /evidence="ECO:0007829|PDB:2VX2"
FT HELIX 114..116
FT /evidence="ECO:0007829|PDB:2VX2"
FT HELIX 118..136
FT /evidence="ECO:0007829|PDB:2VX2"
FT STRAND 142..146
FT /evidence="ECO:0007829|PDB:2VX2"
FT STRAND 148..151
FT /evidence="ECO:0007829|PDB:2VX2"
FT HELIX 153..160
FT /evidence="ECO:0007829|PDB:2VX2"
FT STRAND 161..167
FT /evidence="ECO:0007829|PDB:2VX2"
FT STRAND 171..173
FT /evidence="ECO:0007829|PDB:2VX2"
FT HELIX 176..179
FT /evidence="ECO:0007829|PDB:2VX2"
FT HELIX 184..191
FT /evidence="ECO:0007829|PDB:2VX2"
FT HELIX 196..205
FT /evidence="ECO:0007829|PDB:2VX2"
FT HELIX 211..216
FT /evidence="ECO:0007829|PDB:2VX2"
FT STRAND 221..224
FT /evidence="ECO:0007829|PDB:2VX2"
FT HELIX 226..228
FT /evidence="ECO:0007829|PDB:2VX2"
FT HELIX 229..241
FT /evidence="ECO:0007829|PDB:2VX2"
FT HELIX 245..258
FT /evidence="ECO:0007829|PDB:2VX2"
FT HELIX 263..278
FT /evidence="ECO:0007829|PDB:2VX2"
FT HELIX 281..291
FT /evidence="ECO:0007829|PDB:2VX2"
SQ SEQUENCE 303 AA; 32634 MW; 18BD8888B96AA9BF CRC64;
MAAVAVLRAF GASGPMCLRR GPWAQLPARF CSRDPAGAGR RESEPRPTSA RQLDGIRNIV
LSNPKKRNAL SLAMLKSLQS DILHDADSND LKVIIISAEG PVFSSGHDLK ELTEEQGRDY
HAEVFQTCSK VMMHIRNHPV PVIAMVNGLA AAAGCQLVAS CDIAVASDKS SFATPGVNVG
LFCSTPGVAL ARAVPRKVAL EMLFTGEPIS AQEALLHGLL SKVVPEAELQ EETMRIARKI
ASLSRPVVSL GKATFYKQLP QDLGTAYYLT SQAMVDNLAL RDGQEGITAF LQKRKPVWSH
EPV
