SERAC1 Gene

Name	serine active site containing 1
Description	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]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nSERAC1 encodes a phospholipid remodeling enzyme that localizes at the interface between the mitochondria and the endoplasmic reticulum—the mitochondria‐associated membrane—where it catalyzes the exchange and remodeling of specific phospholipids. In particular, SERAC1 is essential for the regulation of phosphatidylglycerol and, consequently, for maintaining the proper composition of cardiolipin species that support mitochondrial membrane integrity. This activity is also pivotal for intracellular cholesterol trafficking, as SERAC1 influences levels of bis(monoacylglycerol)-phosphate and prevents abnormal cholesterol accumulation."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "3"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nMutations in SERAC1 have been identified as the cause of MEGDEL (or MEGDHEL) syndrome—a multisystem disorder characterized by 3-methylglutaconic aciduria, sensorineural deafness, dystonia, encephalopathy, and Leigh-like lesions. Defective or absent SERAC1 protein leads to impaired phospholipid remodeling, which in turn disrupts mitochondrial oxidative phosphorylation, alters cristae morphology, and compromises calcium buffering between the cytoplasm and mitochondria. These molecular defects contribute directly to the clinical features observed in affected individuals."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "4", "end_ref": "9"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nCollectively, these studies underscore SERAC1’s critical role in linking lipid metabolism with mitochondrial integrity and cellular homeostasis. Disruption of its function triggers a cascade of biochemical imbalances—from defective phospholipid exchange and altered cardiolipin composition to abnormal cholesterol distribution—providing a mechanistic basis for the diverse clinical manifestations of mitochondrial dysfunction observed in MEGDEL syndrome and related disorders."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}, {"type": "fg_f", "ref": "4"}, {"type": "fg_f", "ref": "2"}, {"type": "fg_fs", "start_ref": "6", "end_ref": "8"}, {"type": "fg_f", "ref": "3"}, {"type": "fg_f", "ref": "9"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Saskia B Wortmann, Frédéric M Vaz, Thatjana Gardeitchik, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Genet (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ng.2325"}], "href": "https://doi.org/10.1038/ng.2325"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22683713"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22683713"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Özlem Ünal, R Köksal Özgül, Didem Yücel, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Two Turkish siblings with MEGDEL syndrome due to novel SERAC1 gene mutation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Turk J Pediatr (2015)"}]}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27186703"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27186703"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Vineta Fellman, Rishi Banerjee, Kai-Lan Lin, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Severe neonatal MEGDHEL syndrome with a homozygous truncating mutation in SERAC1."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biochim Biophys Acta Mol Basis Dis (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.bbadis.2021.166298"}], "href": "https://doi.org/10.1016/j.bbadis.2021.166298"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "34751152"}], "href": "https://pubmed.ncbi.nlm.nih.gov/34751152"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Frederic Tort, María Teresa García-Silva, Xènia Ferrer-Cortès, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic aciduria."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Genet Metab (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ymgme.2013.04.021"}], "href": "https://doi.org/10.1016/j.ymgme.2013.04.021"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23707711"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23707711"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Ofer Sarig, Dorit Goldsher, Janna Nousbeck, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Infantile mitochondrial hepatopathy is a cardinal feature of MEGDEL syndrome (3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome) caused by novel mutations in SERAC1."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Med Genet A (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/ajmg.a.36059"}], "href": "https://doi.org/10.1002/ajmg.a.36059"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23918762"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23918762"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "A Radha Rama Devi, Lokesh Lingappa "}, {"type": "b", "children": [{"type": "t", "text": "Novel mutations in SERAC1 gene in two Indian patients presenting with dystonia and intellectual disability."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Eur J Med Genet (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ejmg.2017.07.013"}], "href": "https://doi.org/10.1016/j.ejmg.2017.07.013"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28778788"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28778788"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Benjamin Roeben, Rebecca Schüle, Susanne Ruf, et al. "}, {"type": "b", "children": [{"type": "t", "text": "SERAC1 deficiency causes complicated HSP: evidence from a novel splice mutation in a large family."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Med Genet (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1136/jmedgenet-2017-104622"}], "href": "https://doi.org/10.1136/jmedgenet-2017-104622"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28916646"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28916646"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Roeltje R Maas, Katarzyna Iwanicka-Pronicka, Sema Kalkan Ucar, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Ann Neurol (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/ana.25110"}], "href": "https://doi.org/10.1002/ana.25110"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29205472"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29205472"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Rahma Felhi, Kamel Monastiri, Hayet Ben Hamida, et al. "}, {"type": "b", "children": [{"type": "t", "text": "First description of the MEGDEHL syndrome in the Tunisian population via whole-exome sequencing: Novel nonsense mutation in SERAC1 gene."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Int J Dev Neurosci (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/jdn.10223"}], "href": "https://doi.org/10.1002/jdn.10223"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "35943861"}], "href": "https://pubmed.ncbi.nlm.nih.gov/35943861"}]}]}]}
Proteins	SRAC1_HUMAN
NCBI Gene ID	84947
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Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

SERAC1 has 4,667 functional associations with biological entities spanning 9 categories (molecular profile, organism, disease, phenotype or trait, functional term, phrase or reference, chemical, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 106 datasets.

Click the + buttons to view associations for SERAC1 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

SERAC1 Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of SERAC1 gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles	tissues with high or low expression of SERAC1 gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles	tissue samples with high or low expression of SERAC1 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of SERAC1 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of SERAC1 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of SERAC1 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of SERAC1 gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of SERAC1 gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of SERAC1 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of SERAC1 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of SERAC1 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of SERAC1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of SERAC1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	ClinVar Gene-Phenotype Associations	phenotypes associated with SERAC1 gene from the curated ClinVar Gene-Phenotype Associations dataset.
	ClinVar Gene-Phenotype Associations 2025	phenotypes associated with SERAC1 gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	CM4AI KOLF21J CRISPRi Gene Perturbation Atlas	gene perturbations changing expression of SERAC1 gene from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing SERAC1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing SERAC1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores	cellular components containing SERAC1 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores 2025	cellular components containing SERAC1 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with SERAC1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with SERAC1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of SERAC1 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with SERAC1 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with SERAC1 gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with SERAC1 gene/protein from the curated CTD Gene-Disease Associations dataset.
	dbGAP Gene-Trait Associations	traits associated with SERAC1 gene in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.
	DeepCoverMOA Drug Mechanisms of Action	small molecule perturbations with high or low expression of SERAC1 protein relative to other small molecule perturbations from the DeepCoverMOA Drug Mechanisms of Action dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by SERAC1 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving SERAC1 gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with SERAC1 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with SERAC1 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with SERAC1 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with SERAC1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with SERAC1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at SERAC1 gene from the ENCODE Histone Modification Site Profiles dataset.
	ENCODE Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of SERAC1 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of SERAC1 gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.
	ESCAPE Omics Signatures of Genes and Proteins for Stem Cells	PubMedIDs of publications reporting gene signatures containing SERAC1 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
	GAD Gene-Disease Associations	diseases associated with SERAC1 gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.