SERAC1
| SERAC1 | |||
|---|---|---|---|
| Identifiers | |||
Gene ontology | |||
| Molecular function | |||
| Cellular component | |||
| Biological process | |||
| Sources:Amigo / QuickGO | |||
Ensembl | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| UniProt | |||||||||
| RefSeq (mRNA) | |||||||||
| RefSeq (protein) | |||||||||
| Location (UCSC) | Chr 6: 158.11 – 158.17 Mb | Chr 17: 6.09 – 6.13 Mb | |||||||
| PubMed search | [3] | [4] | |||||||
| View/Edit Human | View/Edit Mouse |
Serine active site-containing protein 1, or Protein SERAC1 is a
Structure
The SERAC1 gene is located on the
Function
The SERAC1 gene encodes for a protein necessary for phosphatidylglycerol remodeling. phosphatidylglycerol remodeling is a process of altering or remodeling a particular phospholipid called phosphatidylglycerol. Phosphatidylglycerol helps make cardiolipin, an important ingredient that surrounds the Inner mitochondrial membrane. Cardiolipin is responsible for converting energy acquired from food to a cell-usable form and required for proper mitochondrial function. Because of cardiolipin, the remodeling process of phosphatidylglycerol is essential for mitochondrial function and intracellular cholesterol trafficking.[11][6][7]
Additionally, SERAC1 is involved in the movement of
Clinical Significance
Mutations in the SERAC1 gene have been associated to impairment of both mitochondrial function and intracellular
MEGDEL syndrome
SERAC1 mutations have been heavily associated with MGDEL syndrome. MGDEL syndrome (3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome) is an
The SERAC1 gene mutations that cause this condition reduce the amount of SERAC1 protein that is produced or lead to production of a protein with little or no function. As a result,
A c.202C>T mutation in this gene has been found in a patient suffering from
Leigh syndrome
Interactions
SERAC1 has been shown to have
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000122335 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000015659 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ a b c d "Entrez Gene: Serine active site containing 1". Retrieved 2012-07-24.
This article incorporates text from this source, which is in the public domain.
- ^ a b c d e
"Protein SERAC1". Retrieved 2018-08-27.
This article incorporates text available under the CC BY 4.0 license.
- ^ a b c d
"UniProt: the universal protein knowledgebase". Nucleic Acids Research. 45 (D1): D158–D169. January 2017. PMID 27899622.
- ^
Zong NC, Li H, Li H, Lam MP, Jimenez RC, Kim CS, Deng N, Kim AK, Choi JH, Zelaya I, Liem D, Meyer D, Odeberg J, Fang C, Lu HJ, Xu T, Weiss J, Duan H, Uhlen M, Yates JR, Apweiler R, Ge J, Hermjakob H, Ping P (October 2013). "Integration of cardiac proteome biology and medicine by a specialized knowledgebase". Circulation Research. 113 (9): 1043–53. PMID 23965338.
- ^ "Protein SERAC1". Cardiac Organellar Protein Atlas Knowledgebase (COPaKB). Archived from the original on 2018-08-28. Retrieved 2018-08-28.
- ^ a b c
Wortmann SB, Vaz FM, Gardeitchik T, Vissers LE, Renkema GH, Schuurs-Hoeijmakers JH, Kulik W, Lammens M, Christin C, Kluijtmans LA, Rodenburg RJ, Nijtmans LG, Grünewald A, Klein C, Gerhold JM, Kozicz T, van Hasselt PM, Harakalova M, Kloosterman W, Barić I, Pronicka E, Ucar SK, Naess K, Singhal KK, Krumina Z, Gilissen C, van Bokhoven H, Veltman JA, Smeitink JA, Lefeber DJ, Spelbrink JN, Wevers RA, Morava E, de Brouwer AP (June 2012). "Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness". Nature Genetics. 44 (7): 797–802. S2CID 2447771.
- ^ a b c "SERAC1". Genetics Home Reference. NCBI. This article incorporates text from this source, which is in the public domain.
- PMID 24997715.
- PMID 23707711.
- ^
Wortmann S, Rodenburg RJ, Huizing M, Loupatty FJ, de Koning T, Kluijtmans LA, Engelke U, Wevers R, Smeitink JA, Morava E (May 2006). "Association of 3-methylglutaconic aciduria with sensori-neural deafness, encephalopathy, and Leigh-like syndrome (MEGDEL association) in four patients with a disorder of the oxidative phosphorylation". Molecular Genetics and Metabolism. 88 (1): 47–52. PMID 16527507.
- ^ "Leigh syndrome". www.uniprot.org.
- ^
Mick DU, Dennerlein S, Wiese H, Reinhold R, Pacheu-Grau D, Lorenzi I, Sasarman F, Weraarpachai W, Shoubridge EA, Warscheid B, Rehling P (December 2012). "MITRAC links mitochondrial protein translocation to respiratory-chain assembly and translational regulation". Cell. 151 (7): 1528–41. PMID 23260140.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.