InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: EHHADH

Summary

InnateDB Protein

IDBP-386234.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

EHHADH

Protein Name

enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase

Synonyms

ECHD; FRTS3; L-PBE; LBFP; LBP; PBFE;

Species

Homo sapiens

Ensembl Protein

ENSP00000387746

InnateDB Gene

IDBG-68450 (EHHADH)

Protein Structure

UniProt Annotation

Function

Subcellular Localization

Peroxisome.

Disease Associations

Fanconi renotubular syndrome 3 (FRTS3) [MIM:615605]: A disease due to a generalized dysfunction of the proximal kidney tubule resulting in decreased solute and water reabsorption. Patients have polydipsia and polyuria with phosphaturia, glycosuria and aminoaciduria. They may develop hypophosphatemic rickets or osteomalacia, acidosis and a tendency toward dehydration. Some eventually develop renal insufficiency. {ECO:0000269PubMed:24401050}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Liver and kidney. Strongly expressed in the terminal segments of the proximal tubule. Lower amounts seen in the brain. {ECO:0000269PubMed:24401050, ECO:0000269PubMed:8188243}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 9 experimentally validated interaction(s) in this database.

Experimentally validated
Total	9 [view]
Protein-Protein	8 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003824	catalytic activity
GO:0003857	3-hydroxyacyl-CoA dehydrogenase activity
GO:0004165	dodecenoyl-CoA delta-isomerase activity
GO:0004300	enoyl-CoA hydratase activity
GO:0005102	receptor binding
GO:0016491	oxidoreductase activity
GO:0019899	enzyme binding
GO:0050662	coenzyme binding

Biological Process

GO:0006475	internal protein amino acid acetylation
GO:0006631	fatty acid metabolic process
GO:0006635	fatty acid beta-oxidation
GO:0008152	metabolic process
GO:0055114	oxidation-reduction process

Cellular Component

GO:0005634	nucleus
GO:0005737	cytoplasm
GO:0005777	peroxisome
GO:0043231	intracellular membrane-bounded organelle

Protein Structure and Domains

PDB ID

InterPro

IPR001753 Crotonase superfamily
IPR006108 3-hydroxyacyl-CoA dehydrogenase, C-terminal
IPR006176 3-hydroxyacyl-CoA dehydrogenase, NAD binding
IPR008927 6-phosphogluconate dehydrogenase, C-terminal-like
IPR029045 ClpP/crotonase-like domain

PFAM

PF00378
PF00725
PF02737

PRINTS

PIRSF

SMART

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q08426

PhosphoSite