ECHD2_HUMAN
ID ECHD2_HUMAN Reviewed; 292 AA.
AC Q86YB7; D3DQ36; Q9NV38;
DT 13-NOV-2007, integrated into UniProtKB/Swiss-Prot.
DT 13-NOV-2007, sequence version 2.
DT 03-AUG-2022, entry version 136.
DE RecName: Full=Enoyl-CoA hydratase domain-containing protein 2, mitochondrial;
DE Flags: Precursor;
GN Name=ECHDC2;
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 2).
RC TISSUE=Placenta;
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 GENOMIC DNA].
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT ASP-119.
RC TISSUE=Brain;
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 [4]
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).
CC -!- SUBCELLULAR LOCATION: Mitochondrion {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q86YB7-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q86YB7-2; Sequence=VSP_029177;
CC -!- SIMILARITY: Belongs to the enoyl-CoA hydratase/isomerase family.
CC {ECO:0000305}.
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DR EMBL; AK001810; BAA91922.1; -; mRNA.
DR EMBL; CH471059; EAX06763.1; -; Genomic_DNA.
DR EMBL; CH471059; EAX06768.1; -; Genomic_DNA.
DR EMBL; BC044574; AAH44574.1; -; mRNA.
DR CCDS; CCDS55600.1; -. [Q86YB7-1]
DR CCDS; CCDS571.1; -. [Q86YB7-2]
DR RefSeq; NP_001185890.1; NM_001198961.1. [Q86YB7-1]
DR RefSeq; NP_060751.2; NM_018281.3. [Q86YB7-2]
DR RefSeq; XP_011540012.1; XM_011541710.2.
DR RefSeq; XP_011540027.1; XM_011541725.2.
DR AlphaFoldDB; Q86YB7; -.
DR SMR; Q86YB7; -.
DR BioGRID; 120557; 19.
DR IntAct; Q86YB7; 10.
DR STRING; 9606.ENSP00000360577; -.
DR iPTMnet; Q86YB7; -.
DR PhosphoSitePlus; Q86YB7; -.
DR BioMuta; ECHDC2; -.
DR DMDM; 160380686; -.
DR EPD; Q86YB7; -.
DR jPOST; Q86YB7; -.
DR MassIVE; Q86YB7; -.
DR PaxDb; Q86YB7; -.
DR PeptideAtlas; Q86YB7; -.
DR PRIDE; Q86YB7; -.
DR ProteomicsDB; 70392; -. [Q86YB7-1]
DR ProteomicsDB; 70393; -. [Q86YB7-2]
DR Antibodypedia; 19158; 99 antibodies from 19 providers.
DR DNASU; 55268; -.
DR Ensembl; ENST00000358358.9; ENSP00000351125.5; ENSG00000121310.17. [Q86YB7-2]
DR Ensembl; ENST00000371522.9; ENSP00000360577.4; ENSG00000121310.17. [Q86YB7-1]
DR GeneID; 55268; -.
DR KEGG; hsa:55268; -.
DR MANE-Select; ENST00000371522.9; ENSP00000360577.4; NM_001198961.2; NP_001185890.1.
DR UCSC; uc001cuo.5; human. [Q86YB7-1]
DR CTD; 55268; -.
DR DisGeNET; 55268; -.
DR GeneCards; ECHDC2; -.
DR HGNC; HGNC:23408; ECHDC2.
DR HPA; ENSG00000121310; Tissue enhanced (liver).
DR neXtProt; NX_Q86YB7; -.
DR OpenTargets; ENSG00000121310; -.
DR PharmGKB; PA134913726; -.
DR VEuPathDB; HostDB:ENSG00000121310; -.
DR eggNOG; KOG1679; Eukaryota.
DR GeneTree; ENSGT00940000158798; -.
DR HOGENOM; CLU_009834_7_6_1; -.
DR InParanoid; Q86YB7; -.
DR OMA; WRSVAFS; -.
DR OrthoDB; 1123666at2759; -.
DR PhylomeDB; Q86YB7; -.
DR TreeFam; TF314276; -.
DR PathwayCommons; Q86YB7; -.
DR SignaLink; Q86YB7; -.
DR BioGRID-ORCS; 55268; 13 hits in 1079 CRISPR screens.
DR ChiTaRS; ECHDC2; human.
DR GenomeRNAi; 55268; -.
DR Pharos; Q86YB7; Tdark.
DR PRO; PR:Q86YB7; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; Q86YB7; protein.
DR Bgee; ENSG00000121310; Expressed in right lobe of liver and 194 other tissues.
DR ExpressionAtlas; Q86YB7; baseline and differential.
DR Genevisible; Q86YB7; HS.
DR GO; GO:0005739; C:mitochondrion; IBA:GO_Central.
DR GO; GO:0004300; F:enoyl-CoA hydratase activity; IBA:GO_Central.
DR GO; GO:0006635; P:fatty acid beta-oxidation; IBA:GO_Central.
DR Gene3D; 1.10.12.10; -; 1.
DR InterPro; IPR029045; ClpP/crotonase-like_dom_sf.
DR InterPro; IPR018376; Enoyl-CoA_hyd/isom_CS.
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.
DR PROSITE; PS00166; ENOYL_COA_HYDRATASE; 1.
PE 1: Evidence at protein level;
KW Acetylation; Alternative splicing; Fatty acid metabolism; Lipid metabolism;
KW Lyase; Mitochondrion; Reference proteome; Transit peptide.
FT TRANSIT 1..35
FT /note="Mitochondrion"
FT /evidence="ECO:0000255"
FT CHAIN 36..292
FT /note="Enoyl-CoA hydratase domain-containing protein 2,
FT mitochondrial"
FT /id="PRO_0000309459"
FT SITE 142
FT /note="Important for catalytic activity"
FT /evidence="ECO:0000250"
FT SITE 162
FT /note="Important for catalytic activity"
FT /evidence="ECO:0000250"
FT MOD_RES 97
FT /note="N6-acetyllysine; alternate"
FT /evidence="ECO:0000250|UniProtKB:Q3TLP5"
FT MOD_RES 97
FT /note="N6-succinyllysine; alternate"
FT /evidence="ECO:0000250|UniProtKB:Q3TLP5"
FT VAR_SEQ 122..152
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_029177"
FT VARIANT 119
FT /note="N -> D (in dbSNP:rs17854314)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_036951"
FT CONFLICT 89
FT /note="V -> A (in Ref. 1; BAA91922)"
FT /evidence="ECO:0000305"
FT CONFLICT 247
FT /note="D -> N (in Ref. 1; BAA91922)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 292 AA; 31126 MW; 23D76881378D5CDD CRC64;
MLRVLCLLRP WRPLRARGCA SDGAAGGSEI QVRALAGPDQ GITEILMNRP SARNALGNVF
VSELLETLAQ LREDRQVRVL LFRSGVKGVF CAGADLKERE QMSEAEVGVF VQRLRGLMND
IAAFPAPTIA AMDGFALGGG LELALACDLR VAASSAVMGL IETTRGLLPG AGGTQRLPRC
LGVALAKELI FTGRRLSGTE AHVLGLVNHA VAQNEEGDAA YQRARALAQE ILPQAPIAVR
LGKVAIDRGT EVDIASGMAI EGMCYAQNIP TRDRLEGMAA FREKRTPKFV GK
