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Aliases for SERAC1 Gene

Aliases for SERAC1 Gene

  • Serine Active Site Containing 1 2 3 5
  • Serine Active Site-Containing Protein 1 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 Leigh-Like Syndrome. GO annotations related to this gene include binding and hydrolase activity, acting on ester bonds.

UniProtKB/Swiss-Prot 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.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SERAC1 Gene

Genomics for SERAC1 Gene

Regulatory Elements for SERAC1 Gene

Enhancers for SERAC1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06F158167 1.1 ENCODE 12.9 +0.1 73 2.0 PKNOX1 ARNT CREB3L1 SIN3A ARID4B DMAP1 YY1 SLC30A9 ZNF143 SP3 GTF2H5 SERAC1 TATDN2P2 SYNJ2 GC06M158055
GH06F158225 1.1 Ensembl ENCODE 9.2 -58.8 -58752 2.2 CTCF TFAP4 SAP130 BMI1 RAD21 POLR2A EED ETV6 FOS CREM ENSG00000238019 DYNLT1 SYTL3 SERAC1 GTF2H5 SYNJ2 TULP4 GC06M158207
GH06F158055 1.5 FANTOM5 Ensembl ENCODE 6.5 +109.0 109006 7.0 SIN3A YBX1 ZNF121 ELK1 FOS ZBTB11 ELF1 ZNF592 NR2F2 IKZF1 SYNJ2 RNU6-786P SERAC1 SNX9 GC06M158055
GH06F158169 0.9 Ensembl ENCODE 9.9 -2.7 -2653 2.7 PAF1 RFX1 TEAD1 TEAD3 JUND SMARCA4 POLR2A ZBTB20 GTF2H5 SERAC1 SYNJ2 TAGAP GC06M158207
GH06F158048 1.2 FANTOM5 ENCODE 6.2 +118.4 118353 3.6 MLX ZFP64 ARID4B DMAP1 THRB ZSCAN9 RAD21 ZEB1 RARA ETV6 SYNJ2 RNU6-786P SERAC1 ENSG00000271040 GC06M158055 SYNJ2-IT1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SERAC1 on UCSC Golden Path with GeneCards custom track

Promoters for SERAC1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001502008 180 2201 PKNOX1 ARNT CREB3L1 SIN3A ARID4B DMAP1 YY1 SLC30A9 SP3 SP5

Genomic Location for SERAC1 Gene

Chromosome:
6
Start:
158,109,504 bp from pter
End:
158,168,280 bp from pter
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

Protein Domains for SERAC1 Gene

Suggested Antigen Peptide Sequences for SERAC1 Gene

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

No data available for Gene Families for SERAC1 Gene

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.
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

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
extracellular 3
nucleus 3
endoplasmic reticulum 3
cytosol 2
golgi apparatus 2

Gene Ontology (GO) - Cellular Components for SERAC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005578 proteinaceous extracellular matrix IEA --
GO:0005739 mitochondrion IEA --
GO:0005783 endoplasmic reticulum IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SERAC1: view

Pathways & Interactions for SERAC1 Gene

SuperPathways for SERAC1 Gene

No Data Available

Interacting Proteins for SERAC1 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000356071%0d%0a9606.ENSP00000275493%0d%0a
Selected Interacting proteins: ENSP00000356071 Q96JX3-SRAC1_HUMAN for SERAC1 Gene via STRING IID

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 --
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

Transcripts for SERAC1 Gene

Unigene Clusters for SERAC1 Gene

Serine active site containing 1:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry 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
ECgene alternative splicing isoforms 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, PaxDb, MaxQB, and MOPED for SERAC1 Gene



Protein tissue co-expression partners for SERAC1 Gene

NURSA nuclear receptor signaling pathways regulating expression of SERAC1 Gene:

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.
genes like me logo Genes that share expression patterns with SERAC1: view

Primer Products

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 35
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SERAC1 34 35
  • 91.28 (n)
cow
(Bos Taurus)
Mammalia SERAC1 34 35
  • 89.35 (n)
mouse
(Mus musculus)
Mammalia Serac1 34 16 35
  • 84.51 (n)
rat
(Rattus norvegicus)
Mammalia Serac1 34
  • 83.44 (n)
oppossum
(Monodelphis domestica)
Mammalia SERAC1 35
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SERAC1 35
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves SERAC1 34 35
  • 73.26 (n)
lizard
(Anolis carolinensis)
Reptilia SERAC1 35
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia serac1 34
  • 66.15 (n)
zebrafish
(Danio rerio)
Actinopterygii serac1 34 35
  • 63.53 (n)
Dr.13179 34
fruit fly
(Drosophila melanogaster)
Insecta CG10383 34 35
  • 46.23 (n)
CG5455 35
  • 19 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011044 34
  • 41.61 (n)
worm
(Caenorhabditis elegans)
Secernentea F17H10.1 35
  • 25 (a)
OneToOne
rice
(Oryza sativa)
Liliopsida Os03g0185500 34
  • 49.8 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 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)

Paralogs for SERAC1 Gene

No data available for Paralogs for SERAC1 Gene

Variants for SERAC1 Gene

Sequence variations from dbSNP and Humsavar for SERAC1 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs201941476 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome (MEGDEL) [MIM:614739] 158,116,193(+) CCATG(C/G)TATGT nc-transcript-variant, reference, missense
VAR_068442 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome (MEGDEL) [MIM:614739]
VAR_068443 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome (MEGDEL) [MIM:614739]
rs199632531 Pathogenic 158,120,465(+) ATCCT(A/G)ATATT nc-transcript-variant, reference, stop-gained
rs387907236 Pathogenic 158,146,827(-) CCACG(C/T)GACTC nc-transcript-variant, reference, stop-gained

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

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

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)

Relevant External Links 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

(8) MalaCards diseases for SERAC1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome
  • 3-@methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome
leigh-like syndrome
3-methylglutaconic aciduria
3-@methylglutaconic aciduria, type iv
  • 3-methylglutaconic aciduria type 4
encephalopathy
  • encephalopathies
- 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}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SERAC1

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

No data available for Genatlas for SERAC1 Gene

Publications for SERAC1 Gene

  1. Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic aciduria. (PMID: 23707711) Tort F. … Ribes A. (Mol. Genet. Metab. 2013) 3 4 64
  2. Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness. (PMID: 22683713) Wortmann S.B. … de Brouwer A.P. (Nat. Genet. 2012) 3 4 64
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for SERAC1 Gene

Sources for SERAC1 Gene

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