SERAC1 - serine active site containing 1 Gene

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 84947

About SERAC1

Cytogenetic location: 6q25.3 Genomic coordinates (GRCh38): 6:158,109,519-158,168,262 (from NCBI)

This gene has 18 transcripts (splice variants), 206 orthologues, 1 paralogue and is associated with 3 phenotypes. Ubiquitous expression in testis (RPKM 4.2), adrenal (RPKM 3.6) and 25 other tissues.

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]

SERAC1 Products (1)

mRNA	Protein	Name
NM_032861.4	NP_116250.3	protein SERAC1

Gene Ontology

Biological Process
Cellular Component

Biological Process GO Annotation	Evidence	References	Source
involved in intracellular cholesterol transport	IMP IMP: Inferred from mutant phenotype	22683713	GOA
involved in phosphatidylglycerol acyl-chain remodeling	IMP IMP: Inferred from mutant phenotype	22683713	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	22683713	GOA
located in mitochondria-associated endoplasmic reticulum membrane contact site	IDA IDA: Inferred from direct assay	22683713	GOA
located in mitochondrion	IDA IDA: Inferred from direct assay	22683713	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SERAC1 Protein Structure

PGAP1

0
200
400
600
654 a.a.

Protein Preferred Names	Protein Names
protein SERAC1	serine active site-containing protein 1

Related Diseases

Diseases	Alias
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Megdel Syndrome MEGDEL Mgca6 3-Methylglutaconic Aciduria With Dystonia-Deafness, Hepatopathy, Encephalopathy, And Leigh-Like Syndrome Megdhel 3-Methylglutaconic Aciduria, Type Vi Serac1 Defect 3-Methylglutaconic Aciduria Type 6 3-Mgca Type Iv 3-Mgca-4 3-Methylglutaconic Aciduria Type Vi 3-Methylglutaconic Aciduria Type Iv With Sensorineural Deafness, Encephalopathy, And Leigh-Like Syndrome Megdhel Syndrome 3-Methylglutaconic Aciduria With Deafness-Encephalopathy-Leigh-Like Syndrome 3-Methylglutaconic Aciduria With Hearing Loss-Encephalopathy-Leigh-Like Syndrome 3-Methylglutaconic Aciduria With Deafness, Encephalopathy, Leigh-Like Syndrome 3-Methylglutaconic Aciduria Type Iv With Sensorineural Deafness, Encephalopathy And Leigh-Like Syndrome
3-Methylglutaconic Aciduria	3-Methyl Glutaconic Aciduria
Mitochondrial Oxidative Phosphorylation Disorder	Oxphos Disease Mitochondrial Respiratory Chain Disorders Oxphos - [Oxidative Phosphorylation] Diseases
Serac1 Deficiency
3-Methylglutaconic Aciduria, Type Iv	3-Methylglutaconic Aciduria Type 4 Mga4 MGCA4 3-Methylglutaconic Aciduria Type Iv Mga, Type Iv Mga Type Iv Not Otherwise Specified 3-Mga-Uria Type 3 Alpha Methylglutaconic Aciduria Type Iv 3 Methylglutaconic Aciduria Type Iv
3-Methylglutaconic Aciduria, Type V	3-Methylglutaconic Aciduria Type 5 Mga5 MGCA5 Dcma Dcma Syndrome Dilated Cardiomyopathy With Ataxia 3-Methylglutaconic Aciduria Type V Mga Type V Cardiomyopathy, Dilated, With Ataxia Mga, Type V Dilated Cardiomyopathy With Ataxia Syndrome Dnajc19 Defect 3-Methylglutaconic Aciduria 5 3-Alpha-Methylglutaconic Aciduria Type 5 3-@Methylglutaconic Aciduria, Type V
3-Methylglutaconic Aciduria, Type I	3-Methylglutaconyl-Coa Hydratase Deficiency 3-Methylglutaconic Aciduria Type 1 Mga1 MGCA1 3mg-Coa Hydratase Deficiency Mga Type I Mga, Type I 3-Mg-Coa-Hydratase Deficiency 3 Methylglutaconyl Coa Hydratase Deficiency 3-Methylglutaconic Aciduria Type I 3 Alpha Methylglutaconic Aciduria Type I 3 Methylglutaconic Aciduria Type 1 3-Mgca Type I 3mg Coa Hydratase Deficiency Auh Defect Primary 3-Methylglutaconic Aciduria 3-Methylglutaconic Aciduria 1 3-Alpha-Methylglutaconic Aciduria Type 1 3-Alpha-Methylglutaconyl-Coa Hydratase Deficiency 3-@Methylglutaconic Aciduria, Type I Megaloblastic Anemia Due To Inborn Errors Of Metabolism
Sengers Syndrome	Mitochondrial Dna Depletion Syndrome 10 Cardiomyopathy And Cataract Cataract And Cardiomyopathy MTDPS10 Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome Cardiomyopathic Mitochondrial Dna Depletion Syndrome 10 Senger Syndrome
Dystonia	Dystonic Disease Dystonic Disorder Dystonia Disorders Neuroleptic Dyskinesia
Spastic Paraplegia 48, Autosomal Recessive	SPG48 Hereditary Spastic Paraplegia 48 Autosomal Recessive Spastic Paraplegia Type 48 Autosomal Recessive Spastic Paraplegia 48 Paraplegia, Spastic, Type 48, Autosomal Recessive
3-Methylglutaconic Aciduria, Type Iii	Optic Atrophy 3-Methylglutaconic Aciduria Type 3 Costeff Syndrome Mga3 Costeff Optic Atrophy Syndrome Optic Atrophy Plus Syndrome Infantile Optic Atrophy With Chorea And Spastic Paraplegia 3-Methylglutaconic Aciduria Type Iii Autosomal Recessive Optic Atrophy Plus Syndrome Autosomal Recessive Optic Atrophy Type 3 Opa3 Defect MGCA3 Mga, Type Iii Iraqi Jewish Optic Atrophy Plus Mga Type Iii Optic Atrophy, Infantile, With Chorea And Spastic Paraplegia Iraqi-Jewish 'Optic Atrophy Plus' Optic Atrophy 3, Autosomal Recessive Opa3, Autosomal Recessive Opa3-Related 3-Methylglutaconic Aciduria Iraqi-Jewish Optic Atrophy Plus Atrophy Of Optic Disc 3-Alpha Methylglutaconic Aciduria Type Iii Optic Atrophy 3 Optic Atrophy Infantile With Chorea And Spastic Paraplegia Autosomal Recessive Opa3 Autosomal Recessive Optic Atrophy 3 3-Methylglutaconic Aciduria 3 3-Alpha-Methylglutaconic Aciduria Type 3 Optic Atrophy 3 Autosomal Recessive Atrophy, Optic Atrophy, Optic, Plus Syndrome Optic Nerve Atrophy Primary Optic Atrophy Oa - [Optic Atrophy] Second Cranial Nerve Atrophy Second Cranium Nerve Atrophy
Organic Acidemia	Organic Aciduria Disorder Of Organic Acid Metabolism Organic Acid Metabolism Disorder Organic Acidemias Inherited Organic Acidemia Organic Acidurias Aciduria Organic
Chromosome 6q24-Q25 Deletion Syndrome	Chromosome 6q25-Q25 Deletion Syndrome 6q25 Microdeletion Syndrome Monosomy 6q25 Del(6)(Q25)
Barth Syndrome	3-Methylglutaconic Aciduria Type 2 BTHS Cardioskeletal Myopathy With Neutropenia And Abnormal Mitochondria Mga Type Ii Mga2 Mgca2 Mga Type 2 3-Methylglutaconic Aciduria Type Ii 3-Methylglutaconic Aciduria, Type Ii Mga, Type Ii 3-Methylglutaconicaciduria Type 2 3-Methylglutaconicaciduria Type Ii Taz Defect 3 Methylglutaconic Aciduria, Type Ii Dnajc19 Defect Cardioskeletal Myopathy-Neutropenia Syndrome X-Linked Cardioskeletal Myopathy And Neutropenia 3-Alpha-Methylglutaconic Aciduria Type 2 Agm2 Cardioskeletal Myopathy-Neutropenia Invm Left Ventricular Non-Compaction Isolated X-Linked Non-Compaction Of Left Ventricular Myocardium Isolated X-Linked Agammaglobulinemia 2, Autosomal Recessive
Trichothiodystrophy 3, Photosensitive	TTD3 Trichothiodystrophy, Complementation Group A Ttda Photosensitive Trichothiodystrophy 3 Trichothiodystrophy Complementation Group A
Leigh Syndrome	Leigh Disease Infantile Subacute Necrotizing Encephalopathy Leigh Syndrome Due To Mitochondrial Complex Iv Deficiency LS Sne Leigh'S Disease Leigh Syndrome Due To Mitochondrial Complex I Deficiency Necrotizing Encephalopathy, Infantile Subacute, Of Leigh Subacute Necrotizing Encephalomyelopathy Necrotizing Encephalopathy Infantile Subacute Of Leigh Leigh Syndrome Due To Mitochondrial Complex Iii Deficiency Infantile Necrotizing Encephalomyelopathy Juvenile Subacute Necrotizing Encephalomyelopathy Leigh'S Necrotizing Encephalopathy Subacute Necrotizing Encephalopathy Juvenile Subacute Necrotizing Encephalopathy Leigh Syndrome Due To Mitochondrial Complex Ii Deficiency Leigh Syndrome Due To Mitochondrial Complex V Deficiency Encephalopathy, Subacute Necrotizing, Infantile Encephalopathy, Subacute Necrotizing, Juvenile Maternally Inherited Leigh Syndrome Subacute Necrotising Encephalomyelopathy Subacute Necrotising Encephalopathy
Spastic Paraplegia 31, Autosomal Dominant	SPG31 Hereditary Spastic Paraplegia 31 Spastic Paraplegia 31 Autosomal Dominant Spastic Paraplegia 31 Autosomal Dominant Spastic Paraplegia Type 31 Spastic Paraplegia Type 31 Paraplegia, Spastic, Autosomal Dominant, Type 31
Mitochondrial Dna Depletion Syndrome	Mtdna Depletion Syndrome
Mitochondrial Dna Depletion Syndrome 6	Navajo Neurohepatopathy Navajo Neuropathy MTDPS6 Nnh Nn Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion Syndrome Navajo Familial Neurogenic Arthropathy Mpv17-Associated Hepatocerebral Mds Mitochondrial Dna Depletion 6 Hepatocerebral Type Mitochondrial Dna Depletion Syndrome , Type 6
Mehmo Syndrome	Mental Retardation, Epileptic Seizures, Hypogonadism And Hypogenitalism, Microcephaly, And Obesity MEHMO Mrxs20 Mrxs25 X-Linked Intellectual Disability-Epileptic Seizures-Hypogenitalism-Microcephaly-Obesity Syndrome Mrxsbrk Mental Retardation, X-Linked, Syndromic 20 Mental Retardation, X-Linked, Syndromic 25 Mental Retardation, X-Linked, Syndromic, Borck Type Syndromic X-Linked Mental Retardation 20 Syndromic X-Linked Mental Retardation 25 Intellectual Disability, Epileptic Seizures, Hypogonadism And Hypogenitalism, Microcephaly, And Obesity X-Linked Mehmo Syndrome
Amino Acid Metabolic Disorder	Amino Acid Metabolism, Inborn Errors Inborn Errors Of Amino Acid Metabolism Disorder Of Amino Acid Metabolism Amino Acid Metabolism Disorders
Coffin-Siris Syndrome 1	Coffin-Siris Syndrome Fifth Digit Syndrome Css CSS1 Mrd12 Mental Retardation, Autosomal Dominant 12 Hhid Dwarfism-Onychodysplasia Hypertrichosis, Hyperkeratosis, Mental Retardation, And Distinctive Facial Features Autosomal Dominant Mental Retardation 12 Short Stature-Onychodysplasia. Intellectual Disability With Absent Fifth Fingernail And Terminal Phalanx Mental Retardation With Hypoplastic Fifth Fingernails And Toenails Short Stature-Onychodysplasia Coffin-Siris Syndrome, Type 1 Mental Retardation, Autosomal Dominant, Type 12
Mitochondrial Dna Depletion Syndrome 4a	Alpers Syndrome Alpers-Huttenlocher Syndrome Alpers Progressive Infantile Poliodystrophy Alpers Diffuse Degeneration Of Cerebral Gray Matter With Hepatic Cirrhosis Alpers Disease Progressive Sclerosing Poliodystrophy Pndc Diffuse Cerebral Sclerosis Of Schilder MTDPS4A Neuronal Degeneration Of Childhood With Liver Disease, Progressive Alper'S Syndrome Alpers' Disease Or Gray-Matter Degeneration Diffuse Cerebral Degeneration In Infancy Infantile Poliodystrophy Poliodystrophia Cerebri Progressiva Progressive Cerebral Poliodystrophy Alpers' Disease Alpers Progressive Sclerosing Poliodystrophy Progressive Neuronal Degeneration Of Childhood With Liver Disease Ahs Mitochondrial Dna Depletion Syndrome 4a Alpers Type Neuronal Degeneration Of Childhood With Liver Disease Progressive
Hereditary Spastic Paraplegia	Familial Spastic Paraplegia Hereditary Spastic Paraparesis Strumpell-Lorrain Disease Familial Spastic Paraparesis Hsp Spg Strümpell-Lorrain Disease Spastic Paraplegia, Hereditary French Settlement Disease Strumpell-Lorrain Syndrome Fsp Spastic Paraplegia, Familial Spastic Paraplegia Hereditary Spastic Paraplegia 3, Autosomal Dominant Spastic Paraparesis Hereditary Spastic Paralysis Familial Spastic Paralysis Hereditary Spastic Ataxia

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS12686	SERAC1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	SERAC1	RGD	RGD:1565064
Bos taurus	SERAC1	VGNC	VGNC:34460
Canis familiaris	SERAC1	VGNC	VGNC:46017
Felis catus	SERAC1	VGNC	VGNC:102514
Mus musculus	SERAC1	MGD	MGI:2447813
Macaca mulatta	SERAC1	VGNC	VGNC:83462
Others	SERAC1	NCBI