SERAC1
Sign in to saveAlso known as serine active site containing 1
Serine active site-containing protein 1, or Protein SERAC1 is a protein in humans that is encoded by the SERAC1 gene.
Gene data
SERAC1- Name
- serine active site containing 1
- Type
- protein-coding
- Position
- 158,109,515–158,168,295 (−)
- Ensembl
- ENSG00000122335
- RefSeq RNA
- NM_032861.4, NR_073096.2, XM_006715586.4, XM_011536198.4, XM_024446573.2
- RefSeq protein
- NP_116250.3, XP_006715649.1, XP_011534500.1, XP_024302341.1, XP_047275377.1
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 Ontology
via MyGene.info
Gene · Ensembl
serine active site containing 1
- Symbol
- SERAC1
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 6:158,109,515-158,168,295
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
Show 5 more facts
- HomoloGene ID
- 41900
- exact match
- identifiers.org/ncbigene/84947
- genomic end
- 158168280
- genomic start
- 158109519
- cytogenetic location
- 6q25.3
via Wikidata · CC0
~5 min read
Article
7 sectionsContents
- Structure
- Function
- Clinical Significance
- MEGDEL syndrome
- Leigh syndrome
- Interactions
- References
Serine active site-containing protein 1, or Protein SERAC1 is a protein in humans that is encoded by the SERAC1 gene. 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.
== Structure == The SERAC1 gene is located on the q arm of chromosome 6 at position 25.3 and it spans 58,776 base pairs. The SERAC1 gene produces an 18.7 kDa protein composed of 162 amino acids. The structure of the encoded protein contains a C-terminal serine-lipase/esterase domain containing the consensus lipase motif GxSxG, and an N-terminal signal sequence.