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Protein

Enoyl-CoA hydratase domain-containing protein 2, mitochondrial

Gene

ECHDC2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

Keywordsi

Molecular functionLyase
Biological processFatty 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

Organism-specific databases

EuPathDBiHostDB:ENSG00000121310.16
HGNCiHGNC:23408 ECHDC2
neXtProtiNX_Q86YB7

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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
GeneTreeiENSGT00890000139344
HOGENOMiHOG000027939
HOVERGENiHBG106714
InParanoidiQ86YB7
OMAiGLRFERH
OrthoDBiEOG091G0Q9K
PhylomeDBiQ86YB7
TreeFamiTF314276

Family and domain databases

Gene3Di1.10.12.10, 1 hit
InterProiView 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
PfamiView protein in Pfam
PF00378 ECH_1, 1 hit
SUPFAMiSSF52096 SSF52096, 1 hit
PROSITEiView protein in PROSITE
PS00166 ENOYL_COA_HYDRATASE, 1 hit

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 → D1 PublicationCorresponds to variant dbSNP:rs17854314Ensembl.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

Entry informationi

Entry nameiECHD2_HUMAN
AccessioniPrimary (citable) accession number: Q86YB7
Secondary accession number(s): D3DQ36, Q9NV38
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 13, 2007
Last sequence update: November 13, 2007
Last modified: March 28, 2018
This is version 111 of the entry and version 2 of the sequence. See 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

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