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SERAC1 Gene

protein-coding   GIFtS: 49
GCID: GC06M158500

Serine Active Site Containing 1

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Serine Active Site Containing 11 2
Serine Active Site-Containing Protein 12 3
Protein SERAC12
MEGDEL5

External Ids:    HGNC: 210611   Entrez Gene: 849472   Ensembl: ENSG000001223357   OMIM: 6147255   UniProtKB: Q96JX33   

Export aliases for SERAC1 gene to outside databases

Previous GC identifers: GC06M158363 GC06M158439 GC06M156002


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 hydrolase activity, acting on ester bonds.

UniProtKB/Swiss-Prot: SRAC1_HUMAN, Q96JX3
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




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000006.12  NT_025741.16  NC_018917.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SERAC1 gene promoter:
         USF1   Sp1   Pax-5   SREBP-1c   USF2   USF-1:USF-2   SREBP-1b   AREB6   USF-1   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSERAC1 promoter sequence
   Search Chromatin IP Primers for SERAC1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SERAC1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6q25.3   Ensembl cytogenetic band:  6q25.3   HGNC cytogenetic band: 6q25.3

SERAC1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SERAC1 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M158500:  view genomic region     (about GC identifiers)

Start:
158,530,536 bp from pter      End:
158,589,312 bp from pter
Size:
58,777 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: SRAC1_HUMAN, Q96JX3 (See protein sequence)
Recommended Name: Protein SERAC1  
Size: 654 amino acids; 74147 Da
Secondary accessions: Q49AT1 Q5VTX3 Q6PKF3
Alternative splicing: 3 isoforms:  Q96JX3-1   Q96JX3-2   Q96JX3-3   

Explore the universe of human proteins at neXtProt for SERAC1: NX_Q96JX3

Explore proteomics data for SERAC1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See SERAC1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_116250.3  
    ENSEMBL proteins: 
     ENSP00000356071   ENSP00000475523   ENSP00000475855   ENSP00000475808   ENSP00000391168  
     ENSP00000356068   ENSP00000475788   ENSP00000356069  

    SERAC1 Human Recombinant Protein Products:

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    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for SERAC1

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    Cloud-Clone Corp. ELISAs for SERAC1
    Cloud-Clone Corp. CLIAs for SERAC1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR011989 ARM-like
     IPR012908 PGAP1-like
     IPR016024 ARM-type_fold

    Graphical View of Domain Structure for InterPro Entry Q96JX3

    ProtoNet protein and cluster: Q96JX3

    UniProtKB/Swiss-Prot: SRAC1_HUMAN, Q96JX3
    Similarity: Belongs to the SERAC1 family


    SERAC1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SRAC1_HUMAN, Q96JX3
    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

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005488binding ----
    GO:0016788hydrolase activity, acting on ester bonds IEA--
         
    SERAC1 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SERAC1
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SERAC1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SERAC1

    miRNA
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    miRTarBase miRNAs that target SERAC1:
    hsa-mir-122-5p (MIRT023363), hsa-mir-21-5p (MIRT030978), hsa-mir-215-5p (MIRT024800), hsa-mir-148b-3p (MIRT019450), hsa-mir-192-5p (MIRT026696), hsa-mir-9-5p (MIRT021468)

    Block miRNA regulation of human, mouse, rat SERAC1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SERAC1 (see all 11):
    hsa-miR-21* hsa-miR-1283 hsa-miR-578 hsa-miR-7 hsa-miR-570 hsa-miR-1912 hsa-miR-646 hsa-miR-27b*
    SwitchGear 3'UTR luciferase reporter plasmidSERAC1 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for SERAC1
    Predesigned siRNA for gene silencing in human, mouse, rat SERAC1

    Gene Editing
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    Clone
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    OriGene ORF clones in mouse, rat for SERAC1
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    GenScript: all cDNA clones in your preferred vector: SERAC1 (NM_032861)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SERAC1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SERAC1

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SERAC1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    SRAC1_HUMAN, Q96JX3: Membrane; Single-pass membrane protein (Potential). Endoplasmic reticulum. Mitochondrion.
    Note=Localizes at the endoplasmic reticulum and at the endoplasmic reticulum-mitochondria interface
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    mitochondrion5
    golgi apparatus2
    cytosol1
    extracellular1
    nucleus1

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005739mitochondrion IDA--
    GO:0005783endoplasmic reticulum IEA--

    SERAC1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SERAC1
    Interactions:

        Search GeneGlobe Interaction Network for SERAC1

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006505GPI anchor metabolic process IEA--
    GO:0006886intracellular protein transport IEA--
    GO:0008654phospholipid biosynthetic process IEA--
    GO:0030198extracellular matrix organization IEA--

    SERAC1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for SERAC1 (SRAC1)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for SERAC1 gene: 
    NM_032861.3  

    Unigene Cluster for SERAC1:

    Serine active site containing 1
    Hs.154706  [show with all ESTs]
    Unigene Representative Sequence: BX648104
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000367104 ENST00000607742 ENST00000607071 ENST00000606965 ENST00000435180
    ENST00000367101 ENST00000607000 ENST00000367102(uc003qrb.2 uc003qrc.2)

    miRNA
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    Block miRNA regulation of human, mouse, rat SERAC1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SERAC1 (see all 11):
    hsa-miR-21* hsa-miR-1283 hsa-miR-578 hsa-miR-7 hsa-miR-570 hsa-miR-1912 hsa-miR-646 hsa-miR-27b*
    SwitchGear 3'UTR luciferase reporter plasmidSERAC1 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for SERAC1
    Predesigned siRNA for gene silencing in human, mouse, rat SERAC1
    Clone
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    OriGene clones in human, mouse for SERAC1 (see all 8)
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: SERAC1 (NM_032861)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SERAC1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SERAC1
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for SERAC1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SERAC1
      QuantiTect SYBR Green Assays in human, mouse, rat SERAC1
      QuantiFast Probe-based Assays in human, mouse, rat SERAC1

    Additional mRNA sequence: 

    AK023656.1 AK027823.1 AK125878.1 BC001705.1 BC028594.1 BC048335.1 BC060795.1 BX648104.1 
    NR_073096.1 

    8 DOTS entries:

    DT.308033  DT.101982623  DT.91701114  DT.100751272  DT.75120946  DT.121346976  DT.205459  DT.95268400 

    Selected AceView cDNA sequences (see all 63):

    CK904864 BG007378 AK027823 BU157257 BQ182984 AA598967 AW236925 BC001705 
    BC048335 AI140856 BQ002844 NM_032861 BM129353 AI128567 AI935591 BM129495 
    BE255786 BX419153 BX280760 BC060795 BM055231 BM129791 AK125878 BX409726 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for SERAC1 (see all 6)    About this scheme

    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:                                                                                                                                                


    ECgene alternative splicing isoforms for SERAC1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    SERAC1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATCATTTGTG
    SERAC1 Expression
    About this image


    SERAC1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    SERAC1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SERAC1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.154706

    UniProtKB/Swiss-Prot: SRAC1_HUMAN, Q96JX3
    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

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SERAC1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for SERAC1 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Serac11 , 5 serine active site containing 11, 5 84.51(n)1
    86.85(a)1
      17 (3.67 cM)5
    3210071  NM_001111017.11  NP_001104487.11 
     60421965 
    chicken
    (Gallus gallus)
    Aves SERAC11 serine active site containing 1 73.26(n)
    70.86(a)
      421657  XM_419696.4  XP_419696.4 
    lizard
    (Anolis carolinensis)
    Reptilia SERAC16
    serine active site containing 1
    67(a)
    1 ↔ 1
    1(212977953-213014569)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia serac11 serine active site containing 1 66.15(n)
    61.54(a)
      101730273  XM_004914642.1  XP_004914699.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.131792 Danio rerio cDNA clone IMAGE5602171, partial cds 72.47(n)    BC054925.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG103831 CG10383 46.23(n)
    36.46(a)
      35123  NM_136052.2  NP_609896.1 
    worm
    (Caenorhabditis elegans)
    Secernentea F17H10.16
    Protein F17H10.1 (F17H10.1) mRNA, complete cds
    25(a)
    1 ↔ 1
    X(13105192-13108543) WBGene00008925
    rice
    (Oryza sativa)
    Liliopsida Os03g01855001 Os03g0185500 49.8(n)
    41.5(a)
      4331865  NM_001055732.1  NP_001049197.1 


    ENSEMBL Gene Tree for SERAC1 (if available)
    TreeFam Gene Tree for SERAC1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for SERAC1 (see all 1260)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2019414761,2,,4
    3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome (MEGDEL)4 --158537225(+) CCATGC/GTATGT 3 T S mis10--------
    VAR_0684424
    3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome (MEGDEL)4--see VAR_0684422 G D mis40--------
    VAR_0684434
    3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome (MEGDEL)4--see VAR_0684432 G E mis40--------
    rs93658861,2
    C,F,H--158530037(+) CAGTTG/TTTTCA 1 -- ds500117Minor allele frequency- T:0.27NS EA NA WA 2336
    rs1931662151,2
    --158530063(+) CCATGG/TTTCAC 1 -- ds50010--------
    rs93470771,2
    C--158530104(+) GGGCCA/GGGTGT 1 -- ds50013Minor allele frequency- G:0.31NA EA 242
    rs69371271,2
    C,F,A,H--158530106(+) GCCAGT/GTGTGG 1 -- ds50017Minor allele frequency- G:0.47WA NA CSA EA 250
    rs1124378971,2
    C,F--158530123(+) ACGCCC/TGTAAT 1 -- ds50011Minor allele frequency- T:0.00CSA 1
    rs1421156311,2
    C--158530152(+) CGAGGC/TGGGCA 1 -- ds50010--------
    rs1511682281,2
    --158530190(+) TCCTGA/GCCAAC 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for SERAC1 (158530536 - 158589312 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10 variations for SERAC1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2527722CNV Deletion19546169
    esv5299CNV Deletion18987735
    esv1769243CNV Deletion17803354
    esv1916968CNV Deletion18987734
    esv2732993CNV Deletion23290073
    esv8377CNV Loss19470904
    nsv511920CNV Loss21212237
    nsv348752CNV Loss16902084
    nsv830849CNV Loss17160897
    nsv886797CNV Gain21882294

    Human Gene Mutation Database (HGMD): SERAC1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SERAC1
    DNA2.0 Custom Variant and Variant Library Synthesis for SERAC1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 614725   
    OMIM disorders: 614739  
    UniProtKB/Swiss-Prot: SRAC1_HUMAN, Q96JX3
  • 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. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • 12 diseases for SERAC1:    
    About MalaCards
    3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome    leigh-like syndrome    3-methylglutaconic aciduria    spasticity
    tonsillitis    cerebritis    multiple myeloma    myeloma
    thyroiditis    malaria    endotheliitis    prostatitis


    SERAC1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): SERAC1
    Human Genome Epidemiology (HuGE) Navigator: SERAC1 (1 document)

    Export disorders for SERAC1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for SERAC1 gene, integrated from 10 sources (see all 14):
    (articles sorted by number of sources associating them with SERAC1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic aciduria. (PubMed id 23707711)1, 2 Tort F.... Ribes A. (Mol. Genet. Metab. 2013)
    2. Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness. (PubMed id 22683713)1, 2 Wortmann S.B....de Brouwer A.P. (Nat. Genet. 2012)
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    6. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (Nature 2003)
    7. 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. (PubMed id 23918762)1 Sarig O....Mandel H. (Am. J. Med. Genet. A 2013)
    8. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (J. Biol. Chem. 2011)
    9. Autoantibodies to tailor-made panels of tumor-associated antigens in breast carcinoma. (PubMed id 21423545)1 Piura E. and Piura B. (J Oncol 2011)
    10. Detection of alpha-rod protein repeats using a neural network and application to huntingtin. (PubMed id 19282972)1 Palidwor G.A....Andrade-Navarro M.A. (PLoS Comput. Biol. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 84947 HGNC: 21061 AceView: SERAC1 Ensembl:ENSG00000122335 euGenes: HUgn84947
    ECgene: SERAC1 H-InvDB: SERAC1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for SERAC1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SERAC1 gene:
    Search GeneIP for patents involving SERAC1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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