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    Serac1 serine active site containing 1 [ Mus musculus (house mouse) ]

    Gene ID: 321007, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Serac1provided by MGI
    Official Full Name
    serine active site containing 1provided by MGI
    Primary source
    MGI:MGI:2447813
    See related
    Ensembl:ENSMUSG00000015659 AllianceGenome:MGI:2447813
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    D17Ertd141e; 4930511N22Rik
    Summary
    Acts upstream of or within extracellular matrix organization. Located in extracellular matrix. 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, Nov 2024]
    Expression
    Ubiquitous expression in CNS E18 (RPKM 7.4), CNS E14 (RPKM 6.3) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Serac1 in Genome Data Viewer
    Location:
    17 A1; 17 3.67 cM
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 17 NC_000083.7 (6090846..6130064, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 17 NC_000083.6 (6040571..6079789, complement)

    Chromosome 17 - NC_000083.7Genomic Context describing neighboring genes Neighboring gene synaptojanin 2 Neighboring gene predicted gene, 35525 Neighboring gene STARR-seq mESC enhancer starr_41712 Neighboring gene predicted gene, 46591 Neighboring gene STARR-positive B cell enhancer ABC_E9051 Neighboring gene general transcription factor IIH, polypeptide 5 Neighboring gene STARR-positive B cell enhancer ABC_E8652 Neighboring gene TUB like protein 4 Neighboring gene fibrillarin, pseudogene 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. SERAC1 is a component of the mitochondrial serine transporter complex required for the maintenance of mitochondrial DNA. Fang H, et al. Sci Transl Med, 2022 Mar 2. PMID 35235340
    2. Mutations in Serac1 or Synj2 cause proximal t haplotype-mediated male mouse sterility but not transmission ratio distortion. Schimenti JC, et al. Proc Natl Acad Sci U S A, 2005 Mar 1. PMID 15722415, Free PMC Article
    3. Transcriptome-based systematic identification of extracellular matrix proteins. Manabe R, et al. Proc Natl Acad Sci U S A, 2008 Sep 2. PMID 18757743, Free PMC Article
    4. Ex vivo Quantitative Proteomic Analysis of Serotonin Transporter Interactome: Network Impact of the SERT Ala56 Coding Variant. Quinlan MA, et al. Front Mol Neurosci, 2020. PMID 32581705, Free PMC Article
    5. New roles for the de-ubiquitylating enzyme OTUD4 in an RNA-protein network and RNA granules. Das R, et al. J Cell Sci, 2019 Jun 17. PMID 31138677, Free PMC Article

    See all (23) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. role in proximal t-haplotype mediated mouse sterility
      Title: Mutations in Serac1 or Synj2 cause proximal t haplotype-mediated male mouse sterility but not transmission ratio distortion.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2)  1 citation
    • Targeted (2) 

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Process Evidence Code Pubs
    acts_upstream_of_or_within extracellular matrix organization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in intracellular cholesterol transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in intracellular cholesterol transport ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in phosphatidylglycerol acyl-chain remodeling IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in phosphatidylglycerol acyl-chain remodeling ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in phospholipid biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in endoplasmic reticulum ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in endoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in extracellular matrix IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondria-associated endoplasmic reticulum membrane contact site IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in mitochondria-associated endoplasmic reticulum membrane contact site ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in mitochondrial outer membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrion ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001111017.1 → NP_001104487.1  protein SERAC1 isoform 3

      See identical proteins and their annotated locations for NP_001104487.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) represents the longest transcript and encodes the longestz isoform (3).
      Source sequence(s)
      AC154650, BC119594, BY197974
      Consensus CDS
      CCDS49933.1
      UniProtKB/Swiss-Prot
      Q3TS62, Q3U213, Q9D2G7
      Related
      ENSMUSP00000095043.4, ENSMUST00000097432.10

    2. NM_001360148.1 → NP_001347077.1  protein SERAC1 isoform 4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks an in-frame exon in the 5' coding region and uses an alternate splice site in the 3' coding region compared to variant 3. The resulting isoform (4) is shorter compared to isoform 3.
      Source sequence(s)
      AC154650

    3. NM_177311.4 → NP_796285.2  protein SERAC1 isoform 2

      See identical proteins and their annotated locations for NP_796285.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon in the 5' coding region compared to variant 3. The resulting isoform (2) is shorter compared to isoform 3.
      Source sequence(s)
      AC154650, AK019677, BY197974, BY715309
      Consensus CDS
      CCDS28366.1
      UniProtKB/Swiss-Prot
      Q3U213
      Related
      ENSMUSP00000024570.6, ENSMUST00000024570.6

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000083.7 Reference GRCm39 C57BL/6J

      Range
      6090846..6130064 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036160650.1 → XP_036016543.1  protein SERAC1 isoform X4

    2. XM_030249847.2 → XP_030105707.1  protein SERAC1 isoform X2

    3. XM_006523234.5 → XP_006523297.1  protein SERAC1 isoform X1

    4. XM_006523235.5 → XP_006523298.1  protein SERAC1 isoform X3

    5. XM_036160651.1 → XP_036016544.1  protein SERAC1 isoform X6

    6. XM_006523236.5 → XP_006523299.1  protein SERAC1 isoform X5

    RNA

    1. XR_004939541.1 RNA Sequence

    2. XR_004939542.1 RNA Sequence

    3. XR_004939540.1 RNA Sequence

    4. XR_003952135.2 RNA Sequence

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001033127.2: Suppressed sequence

      Description
      NM_001033127.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q3U213.1 GenPept UniProtKB/Swiss-Prot:Q3U213

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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