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Protein

Enoyl-CoA hydratase domain-containing protein 2, mitochondrial

Gene

ECHDC2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at protein leveli

Functioni

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei142Important for catalytic activityBy similarity1
Sitei162Important for catalytic activityBy similarity1

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Lyase

Keywords - Biological processi

Fatty acid metabolism, Lipid metabolism

Names & Taxonomyi

Protein namesi
Recommended name:
Enoyl-CoA hydratase domain-containing protein 2, mitochondrial
Gene namesi
Name:ECHDC2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:23408. ECHDC2.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000121310.
PharmGKBiPA134913726.

Polymorphism and mutation databases

BioMutaiECHDC2.
DMDMi160380686.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transit peptidei1 – 35MitochondrionSequence analysisAdd BLAST35
ChainiPRO_000030945936 – 292Enoyl-CoA hydratase domain-containing protein 2, mitochondrialAdd BLAST257

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei97N6-acetyllysine; alternateBy similarity1
Modified residuei97N6-succinyllysine; alternateBy similarity1

Keywords - PTMi

Acetylation

Proteomic databases

PaxDbiQ86YB7.
PeptideAtlasiQ86YB7.
PRIDEiQ86YB7.

PTM databases

iPTMnetiQ86YB7.
PhosphoSitePlusiQ86YB7.

Expressioni

Gene expression databases

BgeeiENSG00000121310.
CleanExiHS_ECHDC2.
ExpressionAtlasiQ86YB7. baseline and differential.
GenevisibleiQ86YB7. HS.

Organism-specific databases

HPAiHPA026731.
HPA026768.

Interactioni

Protein-protein interaction databases

BioGridi120557. 13 interactors.
IntActiQ86YB7. 2 interactors.
STRINGi9606.ENSP00000360577.

Structurei

3D structure databases

ProteinModelPortaliQ86YB7.
SMRiQ86YB7.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiKOG1679. Eukaryota.
COG1024. LUCA.
GeneTreeiENSGT00760000119100.
HOGENOMiHOG000027939.
HOVERGENiHBG106714.
InParanoidiQ86YB7.
OMAiPPRFVGK.
OrthoDBiEOG091G0Q9K.
PhylomeDBiQ86YB7.
TreeFamiTF314276.

Family and domain databases

Gene3Di1.10.12.10. 1 hit.
3.90.226.10. 1 hit.
InterProiIPR029045. ClpP/crotonase-like_dom.
IPR014748. Crontonase_C.
IPR001753. Crotonase_core_superfam.
IPR018376. Enoyl-CoA_hyd/isom_CS.
[Graphical view]
PfamiPF00378. ECH_1. 1 hit.
[Graphical view]
SUPFAMiSSF52096. SSF52096. 1 hit.
PROSITEiPS00166. ENOYL_COA_HYDRATASE. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q86YB7-1) [UniParc]FASTAAdd to basket

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.

« Hide

        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
Length:292
Mass (Da):31,126
Last modified:November 13, 2007 - v2
Checksum:i23D76881378D5CDD
GO
Isoform 2 (identifier: Q86YB7-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     122-152: Missing.

Show »
Length:261
Mass (Da):28,141
Checksum:iAC33433401F087F3
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti89V → A in BAA91922 (PubMed:14702039).Curated1
Sequence conflicti247D → N in BAA91922 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_036951119N → D.1 PublicationCorresponds to variant rs17854314dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_029177122 – 152Missing in isoform 2. 1 PublicationAdd BLAST31

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.
CCDSiCCDS55600.1. [Q86YB7-1]
CCDS571.1. [Q86YB7-2]
RefSeqiNP_001185890.1. NM_001198961.1. [Q86YB7-1]
NP_060751.2. NM_018281.3. [Q86YB7-2]
XP_011540012.1. XM_011541710.2. [Q86YB7-1]
XP_011540027.1. XM_011541725.2. [Q86YB7-2]
UniGeneiHs.476319.

Genome annotation databases

EnsembliENST00000358358; ENSP00000351125; ENSG00000121310. [Q86YB7-2]
ENST00000371522; ENSP00000360577; ENSG00000121310. [Q86YB7-1]
GeneIDi55268.
KEGGihsa:55268.
UCSCiuc001cuo.5. human. [Q86YB7-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

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.
CCDSiCCDS55600.1. [Q86YB7-1]
CCDS571.1. [Q86YB7-2]
RefSeqiNP_001185890.1. NM_001198961.1. [Q86YB7-1]
NP_060751.2. NM_018281.3. [Q86YB7-2]
XP_011540012.1. XM_011541710.2. [Q86YB7-1]
XP_011540027.1. XM_011541725.2. [Q86YB7-2]
UniGeneiHs.476319.

3D structure databases

ProteinModelPortaliQ86YB7.
SMRiQ86YB7.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120557. 13 interactors.
IntActiQ86YB7. 2 interactors.
STRINGi9606.ENSP00000360577.

PTM databases

iPTMnetiQ86YB7.
PhosphoSitePlusiQ86YB7.

Polymorphism and mutation databases

BioMutaiECHDC2.
DMDMi160380686.

Proteomic databases

PaxDbiQ86YB7.
PeptideAtlasiQ86YB7.
PRIDEiQ86YB7.

Protocols and materials databases

DNASUi55268.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000358358; ENSP00000351125; ENSG00000121310. [Q86YB7-2]
ENST00000371522; ENSP00000360577; ENSG00000121310. [Q86YB7-1]
GeneIDi55268.
KEGGihsa:55268.
UCSCiuc001cuo.5. human. [Q86YB7-1]

Organism-specific databases

CTDi55268.
GeneCardsiECHDC2.
HGNCiHGNC:23408. ECHDC2.
HPAiHPA026731.
HPA026768.
neXtProtiNX_Q86YB7.
OpenTargetsiENSG00000121310.
PharmGKBiPA134913726.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1679. Eukaryota.
COG1024. LUCA.
GeneTreeiENSGT00760000119100.
HOGENOMiHOG000027939.
HOVERGENiHBG106714.
InParanoidiQ86YB7.
OMAiPPRFVGK.
OrthoDBiEOG091G0Q9K.
PhylomeDBiQ86YB7.
TreeFamiTF314276.

Miscellaneous databases

ChiTaRSiECHDC2. human.
GenomeRNAii55268.
PROiQ86YB7.

Gene expression databases

BgeeiENSG00000121310.
CleanExiHS_ECHDC2.
ExpressionAtlasiQ86YB7. baseline and differential.
GenevisibleiQ86YB7. HS.

Family and domain databases

Gene3Di1.10.12.10. 1 hit.
3.90.226.10. 1 hit.
InterProiIPR029045. ClpP/crotonase-like_dom.
IPR014748. Crontonase_C.
IPR001753. Crotonase_core_superfam.
IPR018376. Enoyl-CoA_hyd/isom_CS.
[Graphical view]
PfamiPF00378. ECH_1. 1 hit.
[Graphical view]
SUPFAMiSSF52096. SSF52096. 1 hit.
PROSITEiPS00166. ENOYL_COA_HYDRATASE. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiECHD2_HUMAN
AccessioniPrimary (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: November 2, 2016
This is version 102 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.