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Protein

Enoyl-CoA hydratase domain-containing protein 3, mitochondrial

Gene

ECHDC3

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

Functioni

GO - Molecular functioni

GO - Biological processi

Names & Taxonomyi

Protein namesi
Recommended name:
Enoyl-CoA hydratase domain-containing protein 3, mitochondrial
Gene namesi
Name:ECHDC3
ORF Names:PP1494, PP8332
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

EuPathDBiHostDB:ENSG00000134463.14
HGNCiHGNC:23489 ECHDC3
neXtProtiNX_Q96DC8

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

DisGeNETi79746
OpenTargetsiENSG00000134463
PharmGKBiPA134881215

Polymorphism and mutation databases

BioMutaiECHDC3
DMDMi311033376

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transit peptidei1 – 17MitochondrionSequence analysisAdd BLAST17
ChainiPRO_000033321518 – 303Enoyl-CoA hydratase domain-containing protein 3, mitochondrialAdd BLAST286

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei110N6-succinyllysineBy similarity1

Proteomic databases

EPDiQ96DC8
MaxQBiQ96DC8
PaxDbiQ96DC8
PeptideAtlasiQ96DC8
PRIDEiQ96DC8
ProteomicsDBi76276
76277 [Q96DC8-2]

2D gel databases

REPRODUCTION-2DPAGEiIPI00256376

PTM databases

iPTMnetiQ96DC8
PhosphoSitePlusiQ96DC8

Expressioni

Gene expression databases

BgeeiENSG00000134463
CleanExiHS_ECHDC3
ExpressionAtlasiQ96DC8 baseline and differential
GenevisibleiQ96DC8 HS

Organism-specific databases

HPAiHPA038306

Interactioni

Protein-protein interaction databases

IntActiQ96DC8, 1 interactor
STRINGi9606.ENSP00000368517

Structurei

Secondary structure

1303
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi47 – 53Combined sources7
Beta strandi56 – 61Combined sources6
Helixi64 – 66Combined sources3
Helixi72 – 83Combined sources12
Turni84 – 87Combined sources4
Beta strandi93 – 104Combined sources12
Helixi114 – 116Combined sources3
Helixi118 – 136Combined sources19
Beta strandi142 – 146Combined sources5
Beta strandi148 – 151Combined sources4
Helixi153 – 160Combined sources8
Beta strandi161 – 167Combined sources7
Beta strandi171 – 173Combined sources3
Helixi176 – 179Combined sources4
Helixi184 – 191Combined sources8
Helixi196 – 205Combined sources10
Helixi211 – 216Combined sources6
Beta strandi221 – 224Combined sources4
Helixi226 – 228Combined sources3
Helixi229 – 241Combined sources13
Helixi245 – 258Combined sources14
Helixi263 – 278Combined sources16
Helixi281 – 291Combined sources11

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2VX2X-ray2.30A/B/C/D/E/F/G/H/I37-300[»]
ProteinModelPortaliQ96DC8
SMRiQ96DC8
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ96DC8

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiKOG1682 Eukaryota
ENOG410XPEY LUCA
GeneTreeiENSGT00890000139344
HOGENOMiHOG000027939
HOVERGENiHBG107834
InParanoidiQ96DC8
OMAiRPKSAYM
OrthoDBiEOG091G0FQ7
PhylomeDBiQ96DC8
TreeFamiTF313089

Family and domain databases

Gene3Di1.10.12.10, 1 hit
InterProiView protein in InterPro
IPR029045 ClpP/crotonase-like_dom_sf
IPR001753 Enoyl-CoA_hydra/iso
IPR014748 Enoyl-CoA_hydra_C
PfamiView protein in Pfam
PF00378 ECH_1, 1 hit
SUPFAMiSSF52096 SSF52096, 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: Q96DC8-1) [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
MAAVAVLRAF GASGPMCLRR GPWAQLPARF CSRDPAGAGR RESEPRPTSA
60 70 80 90 100
RQLDGIRNIV LSNPKKRNAL SLAMLKSLQS DILHDADSND LKVIIISAEG
110 120 130 140 150
PVFSSGHDLK ELTEEQGRDY HAEVFQTCSK VMMHIRNHPV PVIAMVNGLA
160 170 180 190 200
AAAGCQLVAS CDIAVASDKS SFATPGVNVG LFCSTPGVAL ARAVPRKVAL
210 220 230 240 250
EMLFTGEPIS AQEALLHGLL SKVVPEAELQ EETMRIARKI ASLSRPVVSL
260 270 280 290 300
GKATFYKQLP QDLGTAYYLT SQAMVDNLAL RDGQEGITAF LQKRKPVWSH

EPV
Length:303
Mass (Da):32,634
Last modified:November 2, 2010 - v2
Checksum:i18BD8888B96AA9BF
GO
Isoform 2 (identifier: Q96DC8-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-131: Missing.

Note: No experimental confirmation available.
Show »
Length:172
Mass (Da):18,380
Checksum:i490A10FABB40B62D
GO

Sequence cautioni

The sequence BAB14928 differs from that shown. Reason: Erroneous termination at position 230. Translated as Gln.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti17C → F in AAH01091 (PubMed:15489334).Curated1
Sequence conflicti45P → L in BAD96231 (Ref. 3) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04312669A → T5 PublicationsCorresponds to variant dbSNP:rs4750090Ensembl.1
Natural variantiVAR_043127151A → T5 PublicationsCorresponds to variant dbSNP:rs7910140Ensembl.1
Natural variantiVAR_043128162D → N. Corresponds to variant dbSNP:rs35986488Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0334911 – 131Missing in isoform 2. 1 PublicationAdd BLAST131

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK024562 mRNA Translation: BAB14928.1 Sequence problems.
AK290902 mRNA Translation: BAF83591.1
AF275677 mRNA Translation: AAG24387.1
AF289604 mRNA Translation: AAL55788.1
AK222511 mRNA Translation: BAD96231.1
AL138898 Genomic DNA No translation available.
CH471072 Genomic DNA Translation: EAW86341.1
CH471072 Genomic DNA Translation: EAW86342.1
BC001091 mRNA Translation: AAH01091.1
BC009617 mRNA Translation: AAH09617.1
CCDSiCCDS7084.1 [Q96DC8-1]
RefSeqiNP_078969.2, NM_024693.4
UniGeneiHs.22242

Genome annotation databases

EnsembliENST00000379215; ENSP00000368517; ENSG00000134463 [Q96DC8-1]
GeneIDi79746
KEGGihsa:79746
UCSCiuc001ikw.5 human [Q96DC8-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiECHD3_HUMAN
AccessioniPrimary (citable) accession number: Q96DC8
Secondary accession number(s): Q53HR9
, Q5W0J7, Q8WYY8, Q9BVL8, Q9H7G4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 20, 2008
Last sequence update: November 2, 2010
Last modified: June 20, 2018
This is version 118 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 10
    Human chromosome 10: 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  5. SIMILARITY comments
    Index of protein domains and families

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