Homo sapiens Gene: SERAC1
Summary
InnateDB Gene IDBG-98416.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol SERAC1
Gene Name serine active site containing 1
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000122335
Encoded Proteins
serine active site containing 1
serine active site containing 1
serine active site containing 1
serine active site containing 1
serine active site containing 1
serine active site containing 1
serine active site containing 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary The protein encoded by this gene is a phosphatidylglycerol remodeling protein found at the interface of mitochondria and endoplasmic reticula, where it mediates phospholipid exchange. The encoded protein plays a major role in mitochondrial function and intracellular cholesterol trafficking. Defects in this gene are a cause of 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome (MEGDEL). Two transcript variants, one protein-coding and the other non-protein coding, have been found for this gene. [provided by RefSeq, Aug 2012]
Gene Information
Type Protein coding
Genomic Location Chromosome 6:158109515-158168270
Strand Reverse strand
Band q25.3
Transcripts
ENST00000367104 ENSP00000356071
ENST00000367101 ENSP00000356068
ENST00000435180 ENSP00000391168
ENST00000607742 ENSP00000475523
ENST00000607071 ENSP00000475855
ENST00000606965 ENSP00000475808
ENST00000607000 ENSP00000475788
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
GO:0030198 extracellular matrix organization
Cellular Component
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005783 endoplasmic reticulum
GO:0016021 integral component of membrane
GO:0031012 extracellular matrix
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene
RefSeq NM_032861 XM_006715586
HUGO
OMIM
CCDS CCDS5255
HPRD
IMGT
EMBL
GenPept
RNA Seq Atlas