| 1349770 | SERAC1 | serine active site containing 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] | 6 | 158109519 | 158168262 | Human | 144 | symbol , COSMIC , Human Proteome Map | gene, protein-coding, REVIEWED [RefSeq] |
| 1557153 | Serac1 | serine active site containing 1 | Acts upstream of or within extracellular matrix organization. Located in endoplasmic reticulum membrane; extracellular matrix; and mitochondrial outer membrane. Used to study 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome. Human ortholog(s) of this gene implicated in 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome. Orthologous to human SERAC1 (serine active site containing 1). [provided by Alliance of Genome Resources, Jul 2025] | 17 | 6090846 | 6130064 | Mouse | 118 | symbol , PhenoGen , description | gene, protein-coding, VALIDATED [RefSeq] |
| 1565064 | Serac1 | serine active site containing 1 | INVOLVED IN extracellular matrix organization (ortholog); intracellular cholesterol transport (ortholog); phosphatidylglycerol acyl-chain remodeling (ortholog); ASSOCIATED WITH 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome (ortholog); Deafness (ortholog); dystoni a (ortholog); FOUND IN endoplasmic reticulum (ortholog); endoplasmic reticulum membrane (ortholog); extracellular matrix (ortholog); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; gentamycin; paracetamol | 1 | 49025845 | 49061853 | Rat | 77 | symbol , PhenoGen | gene, protein-coding, VALIDATED [RefSeq] |
| 8791941 | Serac1 | serine active site containing 1 | INVOLVED IN extracellular matrix organization (ortholog); intracellular cholesterol transport (ortholog); phosphatidylglycerol acyl-chain remodeling (ortholog); ASSOCIATED WITH 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome (ortholog); Deafness (ortholog); dystoni a (ortholog); FOUND IN endoplasmic reticulum (ortholog); endoplasmic reticulum membrane (ortholog); extracellular matrix (ortholog) | NW_004955439 | 4234440 | 4291947 | Chinchilla | 18 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 11886105 | SERAC1 | serine active site containing 1 | INVOLVED IN extracellular matrix organization (ortholog); ASSOCIATED WITH 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome (ortholog); Deafness (ortholog); dystonia (ortholog); FOUND IN endoplasmic reticulum (inferred); endoplasmic reticulum membrane (inferred); ext racellular matrix (inferred) | 6 | 156009815 | 156067675 | Bonobo | 25 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 12178104 | SERAC1 | serine active site containing 1 | INVOLVED IN extracellular matrix organization (ortholog); ASSOCIATED WITH 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome (ortholog); Deafness (ortholog); dystonia (ortholog); FOUND IN endoplasmic reticulum (inferred); endoplasmic reticulum membrane (inferred); ext racellular matrix (inferred) | 1 | 47599802 | 47651034 | Dog | 25 | symbol , old_gene_name | gene, protein-coding, MODEL [RefSeq] |
| 12714563 | Serac1 | serine active site containing 1 | INVOLVED IN extracellular matrix organization (ortholog); ASSOCIATED WITH 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome (ortholog); Deafness (ortholog); dystonia (ortholog); FOUND IN endoplasmic reticulum (inferred); endoplasmic reticulum membrane (inferred); ext racellular matrix (inferred) | NW_004936489 | 9911484 | 9983826 | Squirrel | 23 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 14197457 | SERAC1 | serine active site containing 1 | INVOLVED IN extracellular matrix organization (ortholog); ASSOCIATED WITH 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome (ortholog); Deafness (ortholog); dystonia (ortholog); FOUND IN endoplasmic reticulum (inferred); endoplasmic reticulum membrane (inferred); ext racellular matrix (inferred) | | | | Pig | 25 | symbol , old_gene_name | gene, protein-coding, MODEL [RefSeq] |
| 18589758 | SERAC1 | serine active site containing 1 | INVOLVED IN extracellular matrix organization (ortholog); ASSOCIATED WITH 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome (ortholog); Deafness (ortholog); dystonia (ortholog); FOUND IN endoplasmic reticulum (inferred); endoplasmic reticulum membrane (inferred); ext racellular matrix (inferred) | | | | Green Monkey | 23 | symbol , old_gene_name | gene, protein-coding, MODEL [RefSeq] |
| 18936289 | Serac1 | serine active site containing 1 | INVOLVED IN extracellular matrix organization (ortholog); intracellular cholesterol transport (ortholog); phosphatidylglycerol acyl-chain remodeling (ortholog); ASSOCIATED WITH 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome (ortholog); Deafness (ortholog); dystoni a (ortholog); FOUND IN endoplasmic reticulum membrane (ortholog); extracellular matrix (ortholog); mitochondria-associated endoplasmic reticulum membrane contact site (ortholog) | | | | Naked Mole-Rat | 23 | symbol , old_gene_name | gene, protein-coding, MODEL [RefSeq] |
| 155235265 | serac1 | | | | | | Tropical Clawed Frog | | symbol | gene, null |
| 625847320 | Serac1 | serine active site containing 1 | INVOLVED IN extracellular matrix organization (ortholog); intracellular cholesterol transport (ortholog); phosphatidylglycerol acyl-chain remodeling (ortholog); ASSOCIATED WITH 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome (ortholog); Deafness (ortholog); dystoni a (ortholog); FOUND IN endoplasmic reticulum (ortholog); endoplasmic reticulum membrane (ortholog); extracellular matrix (ortholog) | | | | Black Rat | 18 | symbol , old_gene_name | gene, protein-coding, MODEL [RefSeq] |
| 155240361 | serac1.L | | | | | | African Clawed Frog | | symbol | gene, null |
