InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SERAC1

Summary

InnateDB Protein

IDBP-98422.6

Last Modified

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

Gene Symbol

SERAC1

Protein Name

serine active site containing 1

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000356068

InnateDB Gene

IDBG-98416 (SERAC1)

Protein Structure

UniProt Annotation

Function

Plays an important role in the phosphatidylglycerol remodeling that is essential for both mitochondrial function and intracellular cholesterol trafficking. May catalyze the remodeling of phosphatidylglycerol and be involved in the transacylation- acylation reaction to produce phosphatidylglycerol-36:1. May be involved in bis(monoacylglycerol)phosphate biosynthetic pathway. {ECO:0000269PubMed:22683713}.

Subcellular Localization

Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}. Endoplasmic reticulum {ECO:0000269PubMed:22683713}. Mitochondrion {ECO:0000269PubMed:22683713}. Note=Localizes at the endoplasmic reticulum and at the endoplasmic reticulum-mitochondria interface.

Disease Associations

3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome (MEGDEL) [MIM:614739]: An autosomal recessive disorder characterized by childhood onset of delayed psychomotor development or psychomotor regression, sensorineural deafness, spasticity or dystonia, and increased excretion of 3-methylglutaconic acid. Brain imaging shows cerebral and cerebellar atrophy as well as lesions in the basal ganglia reminiscent of Leigh syndrome. Laboratory studies show increased serum lactate and alanine, mitochondrial oxidative phosphorylation defects, abnormal mitochondria, abnormal phosphatidylglycerol and cardiolipin profiles in fibroblasts, and abnormal accumulation of unesterified cholesterol within cells. {ECO:0000269PubMed:22683713, ECO:0000269PubMed:23707711}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Widely expressed, with predominant expression in fetal skeletal muscle and adult brain. In the brain, highest levels are found in the frontal and occipital cortices, cerebellum and hippocampus. {ECO:0000269PubMed:22683713}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.

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

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005488	binding
GO:0016788	hydrolase activity, acting on ester bonds

Biological Process

GO:0006505	GPI anchor metabolic process
GO:0006886	intracellular protein transport
GO:0008654	phospholipid biosynthetic process

Cellular Component

GO:0005634	nucleus
GO:0005737	cytoplasm
GO:0005739	mitochondrion
GO:0005783	endoplasmic reticulum
GO:0016021	integral component of membrane

Protein Structure and Domains

PDB ID

InterPro

IPR016024 Armadillo-type fold
IPR029058 Alpha/Beta hydrolase fold

PFAM

PRINTS

PIRSF

SMART

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q96JX3

PhosphoSite

PhosphoSite-Q96JX3

TrEMBL

UniProt Splice Variant

Entrez Gene

84947

UniGene

RefSeq

HUGO

HGNC:21061

OMIM

614725

CCDS

HPRD

10223

IMGT

EMBL

AK027823 AL135907 AL590703 BC001705 BC028594

GenPept

AAH01705 AAH28594 BAB55393 CAH70239 CAH70240 CAI42499 CAI42500