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
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Cross-References
SwissProt
TrEMBL Q5JVM6
UniProt Splice Variant
Entrez Gene 84947
UniGene
RefSeq NM_032861 XM_006715586
HUGO HGNC:21061
OMIM 614725
CCDS CCDS5255
HPRD 10223
IMGT
EMBL AL135907 AL590703
GenPept
RNA Seq Atlas 84947