UniProtKB - Q86YB7 (ECHD2_HUMAN)
Protein
Enoyl-CoA hydratase domain-containing protein 2, mitochondrial
Gene
ECHDC2
Organism
Homo sapiens (Human)
Status
Functioni
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sitei | 142 | Important for catalytic activityBy similarity | 1 | |
Sitei | 162 | Important for catalytic activityBy similarity | 1 |
GO - Molecular functioni
- enoyl-CoA hydratase activity Source: GO_Central
GO - Biological processi
- fatty acid beta-oxidation Source: GO_Central
Keywordsi
Molecular function | Lyase |
Biological process | Fatty acid metabolism, Lipid metabolism |
Enzyme and pathway databases
PathwayCommonsi | Q86YB7 |
Names & Taxonomyi
Protein namesi | Recommended name: Enoyl-CoA hydratase domain-containing protein 2, mitochondrial |
Gene namesi | Name:ECHDC2 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:23408, ECHDC2 |
neXtProti | NX_Q86YB7 |
VEuPathDBi | HostDB:ENSG00000121310.16 |
Subcellular locationi
Mitochondrion
- Mitochondrion Curated
Mitochondrion
- mitochondrion Source: GO_Central
Keywords - Cellular componenti
MitochondrionPathology & Biotechi
Organism-specific databases
DisGeNETi | 55268 |
OpenTargetsi | ENSG00000121310 |
PharmGKBi | PA134913726 |
Miscellaneous databases
Pharosi | Q86YB7, Tdark |
Genetic variation databases
BioMutai | ECHDC2 |
DMDMi | 160380686 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Transit peptidei | 1 – 35 | MitochondrionSequence analysisAdd BLAST | 35 | |
ChainiPRO_0000309459 | 36 – 292 | Enoyl-CoA hydratase domain-containing protein 2, mitochondrialAdd BLAST | 257 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 97 | N6-acetyllysine; alternateBy similarity | 1 | |
Modified residuei | 97 | N6-succinyllysine; alternateBy similarity | 1 |
Keywords - PTMi
AcetylationProteomic databases
jPOSTi | Q86YB7 |
MassIVEi | Q86YB7 |
PaxDbi | Q86YB7 |
PeptideAtlasi | Q86YB7 |
PRIDEi | Q86YB7 |
ProteomicsDBi | 70392 [Q86YB7-1] 70393 [Q86YB7-2] |
PTM databases
iPTMneti | Q86YB7 |
PhosphoSitePlusi | Q86YB7 |
Expressioni
Gene expression databases
Bgeei | ENSG00000121310, Expressed in right lobe of liver and 235 other tissues |
ExpressionAtlasi | Q86YB7, baseline and differential |
Genevisiblei | Q86YB7, HS |
Organism-specific databases
HPAi | ENSG00000121310, Tissue enhanced (liver) |
Interactioni
Protein-protein interaction databases
BioGRIDi | 120557, 14 interactors |
IntActi | Q86YB7, 10 interactors |
STRINGi | 9606.ENSP00000360577 |
Miscellaneous databases
RNActi | Q86YB7, protein |
Family & Domainsi
Sequence similaritiesi
Belongs to the enoyl-CoA hydratase/isomerase family.Curated
Keywords - Domaini
Transit peptidePhylogenomic databases
eggNOGi | KOG1679, Eukaryota |
GeneTreei | ENSGT00940000158798 |
HOGENOMi | CLU_009834_7_6_1 |
InParanoidi | Q86YB7 |
OMAi | WRSVAFS |
OrthoDBi | 1123666at2759 |
PhylomeDBi | Q86YB7 |
TreeFami | TF314276 |
Family and domain databases
Gene3Di | 1.10.12.10, 1 hit |
InterProi | View protein in InterPro IPR029045, ClpP/crotonase-like_dom_sf IPR018376, Enoyl-CoA_hyd/isom_CS IPR001753, Enoyl-CoA_hydra/iso IPR014748, Enoyl-CoA_hydra_C |
Pfami | View protein in Pfam PF00378, ECH_1, 1 hit |
SUPFAMi | SSF52096, SSF52096, 1 hit |
PROSITEi | View protein in PROSITE PS00166, ENOYL_COA_HYDRATASE, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 6 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: Q86YB7-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MLRVLCLLRP WRPLRARGCA SDGAAGGSEI QVRALAGPDQ GITEILMNRP
60 70 80 90 100
SARNALGNVF VSELLETLAQ LREDRQVRVL LFRSGVKGVF CAGADLKERE
110 120 130 140 150
QMSEAEVGVF VQRLRGLMND IAAFPAPTIA AMDGFALGGG LELALACDLR
160 170 180 190 200
VAASSAVMGL IETTRGLLPG AGGTQRLPRC LGVALAKELI FTGRRLSGTE
210 220 230 240 250
AHVLGLVNHA VAQNEEGDAA YQRARALAQE ILPQAPIAVR LGKVAIDRGT
260 270 280 290
EVDIASGMAI EGMCYAQNIP TRDRLEGMAA FREKRTPKFV GK
Computationally mapped potential isoform sequencesi
There are 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketF6RJU0 | F6RJU0_HUMAN | Enoyl-CoA hydratase domain-containi... | ECHDC2 | 244 | Annotation score: | ||
F5GWU3 | F5GWU3_HUMAN | Enoyl-CoA hydratase domain-containi... | ECHDC2 | 219 | Annotation score: | ||
F5H2K9 | F5H2K9_HUMAN | Enoyl-CoA hydratase domain-containi... | ECHDC2 | 48 | Annotation score: | ||
F5H0R2 | F5H0R2_HUMAN | Enoyl-CoA hydratase domain-containi... | ECHDC2 | 65 | Annotation score: | ||
F5H4W3 | F5H4W3_HUMAN | Enoyl-CoA hydratase domain-containi... | ECHDC2 | 49 | Annotation score: | ||
F5H408 | F5H408_HUMAN | Enoyl-CoA hydratase domain-containi... | ECHDC2 | 43 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 89 | V → A in BAA91922 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 247 | D → N in BAA91922 (PubMed:14702039).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_036951 | 119 | N → D1 PublicationCorresponds to variant dbSNP:rs17854314Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_029177 | 122 – 152 | Missing in isoform 2. 1 PublicationAdd BLAST | 31 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AK001810 mRNA Translation: BAA91922.1 CH471059 Genomic DNA Translation: EAX06763.1 CH471059 Genomic DNA Translation: EAX06768.1 BC044574 mRNA Translation: AAH44574.1 |
CCDSi | CCDS55600.1 [Q86YB7-1] CCDS571.1 [Q86YB7-2] |
RefSeqi | NP_001185890.1, NM_001198961.1 [Q86YB7-1] NP_060751.2, NM_018281.3 [Q86YB7-2] XP_011540012.1, XM_011541710.2 XP_011540027.1, XM_011541725.2 |
Genome annotation databases
Ensembli | ENST00000358358; ENSP00000351125; ENSG00000121310 [Q86YB7-2] ENST00000371522; ENSP00000360577; ENSG00000121310 [Q86YB7-1] |
GeneIDi | 55268 |
KEGGi | hsa:55268 |
UCSCi | uc001cuo.5, human [Q86YB7-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AK001810 mRNA Translation: BAA91922.1 CH471059 Genomic DNA Translation: EAX06763.1 CH471059 Genomic DNA Translation: EAX06768.1 BC044574 mRNA Translation: AAH44574.1 |
CCDSi | CCDS55600.1 [Q86YB7-1] CCDS571.1 [Q86YB7-2] |
RefSeqi | NP_001185890.1, NM_001198961.1 [Q86YB7-1] NP_060751.2, NM_018281.3 [Q86YB7-2] XP_011540012.1, XM_011541710.2 XP_011540027.1, XM_011541725.2 |
3D structure databases
SMRi | Q86YB7 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 120557, 14 interactors |
IntActi | Q86YB7, 10 interactors |
STRINGi | 9606.ENSP00000360577 |
PTM databases
iPTMneti | Q86YB7 |
PhosphoSitePlusi | Q86YB7 |
Genetic variation databases
BioMutai | ECHDC2 |
DMDMi | 160380686 |
Proteomic databases
jPOSTi | Q86YB7 |
MassIVEi | Q86YB7 |
PaxDbi | Q86YB7 |
PeptideAtlasi | Q86YB7 |
PRIDEi | Q86YB7 |
ProteomicsDBi | 70392 [Q86YB7-1] 70393 [Q86YB7-2] |
Protocols and materials databases
Antibodypediai | 19158, 96 antibodies |
DNASUi | 55268 |
Genome annotation databases
Ensembli | ENST00000358358; ENSP00000351125; ENSG00000121310 [Q86YB7-2] ENST00000371522; ENSP00000360577; ENSG00000121310 [Q86YB7-1] |
GeneIDi | 55268 |
KEGGi | hsa:55268 |
UCSCi | uc001cuo.5, human [Q86YB7-1] |
Organism-specific databases
CTDi | 55268 |
DisGeNETi | 55268 |
GeneCardsi | ECHDC2 |
HGNCi | HGNC:23408, ECHDC2 |
HPAi | ENSG00000121310, Tissue enhanced (liver) |
neXtProti | NX_Q86YB7 |
OpenTargetsi | ENSG00000121310 |
PharmGKBi | PA134913726 |
VEuPathDBi | HostDB:ENSG00000121310.16 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1679, Eukaryota |
GeneTreei | ENSGT00940000158798 |
HOGENOMi | CLU_009834_7_6_1 |
InParanoidi | Q86YB7 |
OMAi | WRSVAFS |
OrthoDBi | 1123666at2759 |
PhylomeDBi | Q86YB7 |
TreeFami | TF314276 |
Enzyme and pathway databases
PathwayCommonsi | Q86YB7 |
Miscellaneous databases
BioGRID-ORCSi | 55268, 7 hits in 876 CRISPR screens |
ChiTaRSi | ECHDC2, human |
GenomeRNAii | 55268 |
Pharosi | Q86YB7, Tdark |
PROi | PR:Q86YB7 |
RNActi | Q86YB7, protein |
Gene expression databases
Bgeei | ENSG00000121310, Expressed in right lobe of liver and 235 other tissues |
ExpressionAtlasi | Q86YB7, baseline and differential |
Genevisiblei | Q86YB7, HS |
Family and domain databases
Gene3Di | 1.10.12.10, 1 hit |
InterProi | View protein in InterPro IPR029045, ClpP/crotonase-like_dom_sf IPR018376, Enoyl-CoA_hyd/isom_CS IPR001753, Enoyl-CoA_hydra/iso IPR014748, Enoyl-CoA_hydra_C |
Pfami | View protein in Pfam PF00378, ECH_1, 1 hit |
SUPFAMi | SSF52096, SSF52096, 1 hit |
PROSITEi | View protein in PROSITE PS00166, ENOYL_COA_HYDRATASE, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | ECHD2_HUMAN | |
Accessioni | Q86YB7Primary (citable) accession number: Q86YB7 Secondary accession number(s): D3DQ36, Q9NV38 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | November 13, 2007 |
Last sequence update: | November 13, 2007 | |
Last modified: | February 10, 2021 | |
This is version 130 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | 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. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 1
Human chromosome 1: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - SIMILARITY comments
Index of protein domains and families