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Protein

Enoyl-CoA hydratase domain-containing protein 3, mitochondrial

Gene

ECHDC3

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

Functioni

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

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

HGNCiHGNC:23489. ECHDC3.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

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.

2D gel databases

REPRODUCTION-2DPAGEIPI00256376.

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.
GeneTreeiENSGT00760000119100.
HOGENOMiHOG000027939.
HOVERGENiHBG107834.
InParanoidiQ96DC8.
OMAiFQTCSEV.
OrthoDBiEOG091G0FQ7.
PhylomeDBiQ96DC8.
TreeFamiTF313089.

Family and domain databases

Gene3Di3.90.226.10. 1 hit.
InterProiIPR029045. ClpP/crotonase-like_dom.
IPR001753. Crotonase_core_superfam.
[Graphical view]
PfamiPF00378. ECH_1. 1 hit.
[Graphical view]
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 → T.5 PublicationsCorresponds to variant rs4750090dbSNPEnsembl.1
Natural variantiVAR_043127151A → T.5 PublicationsCorresponds to variant rs7910140dbSNPEnsembl.1
Natural variantiVAR_043128162D → N.Corresponds to variant rs35986488dbSNPEnsembl.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. Translation: CAH73456.1.
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

Cross-referencesi

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. Translation: CAH73456.1.
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.

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...

Protein-protein interaction databases

IntActiQ96DC8. 1 interactor.
STRINGi9606.ENSP00000368517.

PTM databases

iPTMnetiQ96DC8.
PhosphoSitePlusiQ96DC8.

Polymorphism and mutation databases

BioMutaiECHDC3.
DMDMi311033376.

2D gel databases

REPRODUCTION-2DPAGEIPI00256376.

Proteomic databases

EPDiQ96DC8.
MaxQBiQ96DC8.
PaxDbiQ96DC8.
PeptideAtlasiQ96DC8.
PRIDEiQ96DC8.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi79746.
DisGeNETi79746.
GeneCardsiECHDC3.
H-InvDBHIX0008639.
HGNCiHGNC:23489. ECHDC3.
HPAiHPA038306.
neXtProtiNX_Q96DC8.
OpenTargetsiENSG00000134463.
PharmGKBiPA134881215.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1682. Eukaryota.
ENOG410XPEY. LUCA.
GeneTreeiENSGT00760000119100.
HOGENOMiHOG000027939.
HOVERGENiHBG107834.
InParanoidiQ96DC8.
OMAiFQTCSEV.
OrthoDBiEOG091G0FQ7.
PhylomeDBiQ96DC8.
TreeFamiTF313089.

Miscellaneous databases

ChiTaRSiECHDC3. human.
EvolutionaryTraceiQ96DC8.
GenomeRNAii79746.
PROiQ96DC8.

Gene expression databases

BgeeiENSG00000134463.
CleanExiHS_ECHDC3.
ExpressionAtlasiQ96DC8. baseline and differential.
GenevisibleiQ96DC8. HS.

Family and domain databases

Gene3Di3.90.226.10. 1 hit.
InterProiIPR029045. ClpP/crotonase-like_dom.
IPR001753. Crotonase_core_superfam.
[Graphical view]
PfamiPF00378. ECH_1. 1 hit.
[Graphical view]
SUPFAMiSSF52096. SSF52096. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiECHD3_HUMAN
AccessioniPrimary (citable) accession number: Q96DC8
Secondary accession number(s): Q53HR9
, Q5W0J7, Q8WYY8, Q9BVL8, Q9H7G4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 20, 2008
Last sequence update: November 2, 2010
Last modified: November 2, 2016
This is version 107 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

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

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.