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, encephalo... See more...

Aliases for SERAC1 Gene

Aliases for SERAC1 Gene

  • Serine Active Site Containing 1 2 3 5
  • Serine Active Site-Containing Protein 1 3 4
  • Protein SERAC1 3 4

External Ids for SERAC1 Gene

Previous GeneCards Identifiers for SERAC1 Gene

  • GC06M158363
  • GC06M158439
  • GC06M158500
  • GC06M156002

Summaries for SERAC1 Gene

Entrez Gene Summary for 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. [provided by RefSeq, Aug 2012]

GeneCards Summary for SERAC1 Gene

SERAC1 (Serine Active Site Containing 1) is a Protein Coding gene. Diseases associated with SERAC1 include 3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome and 3-Methylglutaconic Aciduria. Gene Ontology (GO) annotations related to this gene include binding and hydrolase activity, acting on ester bonds. An important paralog of this gene is POP1.

UniProtKB/Swiss-Prot Summary for SERAC1 Gene

  • Plays an important role in the phosphatidylglycerol remodeling that is essential for both mitochondrial function and intracellular cholesterol trafficking. May catalyze the remodeling of phosphatidylglycerol and be involved in the transacylation-acylation reaction to produce phosphatidylglycerol-36:1. May be involved in bis(monoacylglycerol)phosphate biosynthetic pathway.

Additional gene information for SERAC1 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SERAC1 Gene

Genomics for SERAC1 Gene

GeneHancer (GH) Regulatory Elements for SERAC1 Gene

Promoters and enhancers for SERAC1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06J158167 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 512.8 +0.2 179 2.6 HNRNPK ZBTB40 EP300 SIN3A TCF12 NRF1 POLR2G USF1 PHF8 ZFX GTF2H5 SERAC1 SYNJ2 lnc-GTF2H5-1
GH06J158205 Enhancer 0.9 Ensembl ENCODE 17.3 -37.1 -37121 1.2 CTCF USF1 REST TEAD1 SMC3 MCM3 RXRA CREB1 FOXA2 RAD21 RF00017-5910 DYNLT1 SERAC1 SNX9 ENSG00000238019 SYTL3 piR-61240-257
GH06J158200 Enhancer 0.6 Ensembl ENCODE 20 -32.9 -32921 1.6 ZNF316 GATA1 EMSY EZH2 SERAC1 GTF2H5 ENSG00000238019 DYNLT1 SYTL3 SYNJ2 RF00017-5910 piR-61240-257
GH06J158055 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 6.5 +109.1 109084 7.2 TCF12 JUND FOS REST RFX1 EP300 NR2F2 SIN3A ZNF592 POLR2A lnc-SERAC1-7 SYNJ2 RNU6-786P SERAC1 SNX9 piR-41195-046
GH06J158048 Enhancer 1.3 FANTOM5 ENCODE dbSUPER 6.2 +118.4 118353 3.6 POLR2G NCOR1 FOS TEAD4 ZFX ZIC2 KDM6A CLOCK HES1 MYC SYNJ2 ENSG00000271040 RNU6-786P SERAC1 lnc-SERAC1-7 RF00017-5907
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SERAC1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SERAC1

Top Transcription factor binding sites by QIAGEN in the SERAC1 gene promoter:
  • AREB6
  • Pax-4a
  • Pax-5
  • Sp1
  • SREBP-1b
  • SREBP-1c
  • USF-1
  • USF-1:USF-2
  • USF1
  • USF2

Genomic Locations for SERAC1 Gene

Genomic Locations for SERAC1 Gene
chr6:158,109,504-158,168,280
(GRCh38/hg38)
Size:
58,777 bases
Orientation:
Minus strand
chr6:158,530,536-158,589,312
(GRCh37/hg19)
Size:
58,777 bases
Orientation:
Minus strand

Genomic View for SERAC1 Gene

Genes around SERAC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SERAC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SERAC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SERAC1 Gene

Proteins for SERAC1 Gene

  • Protein details for SERAC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96JX3-SRAC1_HUMAN
    Recommended name:
    Protein SERAC1
    Protein Accession:
    Q96JX3
    Secondary Accessions:
    • Q49AT1
    • Q5VTX3
    • Q6PKF3

    Protein attributes for SERAC1 Gene

    Size:
    654 amino acids
    Molecular mass:
    74147 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for SERAC1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SERAC1 Gene

Post-translational modifications for SERAC1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for SERAC1 Gene

Domains & Families for SERAC1 Gene

Gene Families for SERAC1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for SERAC1 Gene

Suggested Antigen Peptide Sequences for SERAC1 Gene

GenScript: Design optimal peptide antigens:
  • Serine active site containing 1 (Q5JVM6_HUMAN)
  • Protein SERAC1 (SRAC1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96JX3

UniProtKB/Swiss-Prot:

SRAC1_HUMAN :
  • Belongs to the SERAC1 family.
Family:
  • Belongs to the SERAC1 family.
genes like me logo Genes that share domains with SERAC1: view

Function for SERAC1 Gene

Molecular function for SERAC1 Gene

UniProtKB/Swiss-Prot Function:
Plays an important role in the phosphatidylglycerol remodeling that is essential for both mitochondrial function and intracellular cholesterol trafficking. May catalyze the remodeling of phosphatidylglycerol and be involved in the transacylation-acylation reaction to produce phosphatidylglycerol-36:1. May be involved in bis(monoacylglycerol)phosphate biosynthetic pathway.

Phenotypes From GWAS Catalog for SERAC1 Gene

Gene Ontology (GO) - Molecular Function for SERAC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
genes like me logo Genes that share ontologies with SERAC1: view
genes like me logo Genes that share phenotypes with SERAC1: view

Human Phenotype Ontology for SERAC1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for SERAC1 Gene

Localization for SERAC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SERAC1 Gene

Membrane; Single-pass membrane protein. Endoplasmic reticulum. Mitochondrion. Note=Localizes at the endoplasmic reticulum and at the endoplasmic reticulum-mitochondria interface.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SERAC1 gene
Compartment Confidence
mitochondrion 5
endoplasmic reticulum 5
nucleus 3
extracellular 2
cytosol 2
cytoskeleton 1
peroxisome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for SERAC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA,IEA 22683713
GO:0005783 endoplasmic reticulum IDA,IEA 22683713
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0031012 extracellular matrix IEA --
genes like me logo Genes that share ontologies with SERAC1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SERAC1 Gene

Pathways & Interactions for SERAC1 Gene

PathCards logo

SuperPathways for SERAC1 Gene

No Data Available

Interacting Proteins for SERAC1 Gene

;

Gene Ontology (GO) - Biological Process for SERAC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0008654 phospholipid biosynthetic process IEA --
GO:0030198 extracellular matrix organization IEA --
GO:0032367 intracellular cholesterol transport IMP 22683713
GO:0036148 phosphatidylglycerol acyl-chain remodeling IMP 22683713
genes like me logo Genes that share ontologies with SERAC1: view

No data available for Pathways by source and SIGNOR curated interactions for SERAC1 Gene

Drugs & Compounds for SERAC1 Gene

No Compound Related Data Available

Transcripts for SERAC1 Gene

mRNA/cDNA for SERAC1 Gene

1 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
18 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SERAC1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17 ^ 18a · 18b ^ 19a · 19b
SP1: - - -
SP2: - - - -
SP3: -
SP4: -
SP5:
SP6:

Relevant External Links for SERAC1 Gene

GeneLoc Exon Structure for
SERAC1

Expression for SERAC1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SERAC1 Gene

Protein differential expression in normal tissues from HIPED for SERAC1 Gene

This gene is overexpressed in Plasma (55.1) and Pancreas (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SERAC1 Gene



Protein tissue co-expression partners for SERAC1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SERAC1

SOURCE GeneReport for Unigene cluster for SERAC1 Gene:

Hs.154706

mRNA Expression by UniProt/SwissProt for SERAC1 Gene:

Q96JX3-SRAC1_HUMAN
Tissue specificity: Widely expressed, with predominant expression in fetal skeletal muscle and adult brain. In the brain, highest levels are found in the frontal and occipital cortices, cerebellum and hippocampus.

Evidence on tissue expression from TISSUES for SERAC1 Gene

  • Eye(4.1)
  • Nervous system(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SERAC1 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • endocrine
  • immune
  • integumentary
  • nervous
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • cerebellum
  • ear
  • head
Thorax:
  • heart
Abdomen:
  • adrenal gland
General:
  • blood
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
  • sweat gland
  • white blood cell
genes like me logo Genes that share expression patterns with SERAC1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for SERAC1 Gene

Orthologs for SERAC1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SERAC1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SERAC1 31
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SERAC1 31 30
  • 91.28 (n)
OneToOne
cow
(Bos Taurus)
Mammalia SERAC1 31 30
  • 89.35 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Serac1 17 31 30
  • 84.51 (n)
rat
(Rattus norvegicus)
Mammalia Serac1 30
  • 83.44 (n)
oppossum
(Monodelphis domestica)
Mammalia SERAC1 31
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SERAC1 31
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves SERAC1 31 30
  • 73.26 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SERAC1 31
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia serac1 30
  • 66.15 (n)
zebrafish
(Danio rerio)
Actinopterygii serac1 31 30
  • 63.53 (n)
OneToOne
Dr.13179 30
fruit fly
(Drosophila melanogaster)
Insecta CG10383 31 30
  • 46.23 (n)
OneToMany
CG5455 31
  • 19 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011044 30
  • 41.61 (n)
worm
(Caenorhabditis elegans)
Secernentea F17H10.1 31
  • 25 (a)
OneToOne
rice
(Oryza sativa)
Liliopsida Os03g0185500 30
  • 49.8 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 47 (a)
OneToOne
Species where no ortholog for SERAC1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SERAC1 Gene

ENSEMBL:
Gene Tree for SERAC1 (if available)
TreeFam:
Gene Tree for SERAC1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SERAC1: view image

Paralogs for SERAC1 Gene

Paralogs for SERAC1 Gene

genes like me logo Genes that share paralogs with SERAC1: view

Variants for SERAC1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SERAC1 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
645684 Uncertain Significance: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 158,113,512(-) C/T MISSENSE_VARIANT
652792 Uncertain Significance: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 158,144,340(-) G/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
653652 Likely Pathogenic: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 158,116,193(-) C/G MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
671613 Benign: not provided 158,158,205(-) T/C INTRON_VARIANT
671614 Benign: not provided 158,150,623(-) G/C INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for SERAC1 Gene

Structural Variations from Database of Genomic Variants (DGV) for SERAC1 Gene

Variant ID Type Subtype PubMed ID
dgv3421n106 CNV deletion 24896259
esv1769243 CNV deletion 17803354
esv1916968 CNV deletion 18987734
esv2527722 CNV deletion 19546169
esv2732993 CNV deletion 23290073
esv3282718 CNV deletion 24192839
esv3540735 CNV deletion 23714750
esv3890972 CNV gain 25118596
esv5299 CNV loss 18987735
esv8377 CNV loss 19470904
nsv1074027 CNV deletion 25765185
nsv1146728 CNV deletion 26484159
nsv348752 CNV deletion 16902084
nsv511920 CNV loss 21212237
nsv830849 CNV loss 17160897
nsv958334 CNV deletion 24416366

Variation tolerance for SERAC1 Gene

Residual Variation Intolerance Score: 32.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.58; 56.15% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SERAC1 Gene

Human Gene Mutation Database (HGMD)
SERAC1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SERAC1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SERAC1 Gene

Disorders for SERAC1 Gene

MalaCards: The human disease database

(20) MalaCards diseases for SERAC1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

SRAC1_HUMAN
  • 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome (MEGDEL) [MIM:614739]: An autosomal recessive disorder characterized by childhood onset of delayed psychomotor development or psychomotor regression, sensorineural deafness, spasticity or dystonia, and increased excretion of 3-methylglutaconic acid. Brain imaging shows cerebral and cerebellar atrophy as well as lesions in the basal ganglia reminiscent of Leigh syndrome. Laboratory studies show increased serum lactate and alanine, mitochondrial oxidative phosphorylation defects, abnormal mitochondria, abnormal phosphatidylglycerol and cardiolipin profiles in fibroblasts, and abnormal accumulation of unesterified cholesterol within cells. {ECO:0000269 PubMed:22683713, ECO:0000269 PubMed:23707711, ECO:0000269 PubMed:28778788}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for SERAC1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with SERAC1: view

No data available for Genatlas for SERAC1 Gene

Publications for SERAC1 Gene

  1. Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness. (PMID: 22683713) Wortmann SB … de Brouwer AP (Nature genetics 2012) 2 3 4 54
  2. Novel mutations in SERAC1 gene in two Indian patients presenting with dystonia and intellectual disability. (PMID: 28778788) Radha Rama Devi A … Lingappa L (European journal of medical genetics 2018) 3 4 54
  3. Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic aciduria. (PMID: 23707711) Tort F … Ribes A (Molecular genetics and metabolism 2013) 3 4 54
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41 54
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54

Products for SERAC1 Gene

Sources for SERAC1 Gene