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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

PharmGKBiPA134881215.

Polymorphism and mutation databases

BioMutaiECHDC3.
DMDMi311033376.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transit peptidei1 – 1717MitochondrionSequence analysisAdd
BLAST
Chaini18 – 303286Enoyl-CoA hydratase domain-containing protein 3, mitochondrialPRO_0000333215Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei110 – 1101N6-succinyllysineBy similarity

Proteomic databases

EPDiQ96DC8.
MaxQBiQ96DC8.
PaxDbiQ96DC8.
PeptideAtlasiQ96DC8.
PRIDEiQ96DC8.

2D gel databases

REPRODUCTION-2DPAGEIPI00256376.

PTM databases

iPTMnetiQ96DC8.
PhosphoSiteiQ96DC8.

Expressioni

Gene expression databases

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

Organism-specific databases

HPAiHPA038306.

Interactioni

Protein-protein interaction databases

IntActiQ96DC8. 1 interaction.
STRINGi9606.ENSP00000368517.

Structurei

Secondary structure

1
303
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi47 – 537Combined sources
Beta strandi56 – 616Combined sources
Helixi64 – 663Combined sources
Helixi72 – 8312Combined sources
Turni84 – 874Combined sources
Beta strandi93 – 10412Combined sources
Helixi114 – 1163Combined sources
Helixi118 – 13619Combined sources
Beta strandi142 – 1465Combined sources
Beta strandi148 – 1514Combined sources
Helixi153 – 1608Combined sources
Beta strandi161 – 1677Combined sources
Beta strandi171 – 1733Combined sources
Helixi176 – 1794Combined sources
Helixi184 – 1918Combined sources
Helixi196 – 20510Combined sources
Helixi211 – 2166Combined sources
Beta strandi221 – 2244Combined sources
Helixi226 – 2283Combined sources
Helixi229 – 24113Combined sources
Helixi245 – 25814Combined sources
Helixi263 – 27816Combined sources
Helixi281 – 29111Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
2VX2X-ray2.30A/B/C/D/E/F/G/H/I37-300[»]
ProteinModelPortaliQ96DC8.
SMRiQ96DC8. Positions 45-300.
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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti17 – 171C → F in AAH01091 (PubMed:15489334).Curated
Sequence conflicti45 – 451P → L in BAD96231 (Ref. 3) Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti69 – 691A → T.5 Publications
Corresponds to variant rs4750090 [ dbSNP | Ensembl ].
VAR_043126
Natural varianti151 – 1511A → T.5 Publications
Corresponds to variant rs7910140 [ dbSNP | Ensembl ].
VAR_043127
Natural varianti162 – 1621D → N.
Corresponds to variant rs35986488 [ dbSNP | Ensembl ].
VAR_043128

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 131131Missing in isoform 2. 1 PublicationVSP_033491Add
BLAST

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
EntryMethodResolution (Å)ChainPositionsPDBsum
2VX2X-ray2.30A/B/C/D/E/F/G/H/I37-300[»]
ProteinModelPortaliQ96DC8.
SMRiQ96DC8. Positions 45-300.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

IntActiQ96DC8. 1 interaction.
STRINGi9606.ENSP00000368517.

PTM databases

iPTMnetiQ96DC8.
PhosphoSiteiQ96DC8.

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.
GeneCardsiECHDC3.
H-InvDBHIX0008639.
HGNCiHGNC:23489. ECHDC3.
HPAiHPA038306.
neXtProtiNX_Q96DC8.
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: September 7, 2016
This is version 106 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.