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

Gene ID: 321007, updated on 11-Apr-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. 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, Apr 2022]
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 (22) 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)
  • Targeted (2) 
  • Endonuclease-mediated (2)  1 citation

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 ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within lipid metabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in phosphatidylglycerol acyl-chain remodeling ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within 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 extracellular matrix IDA
Inferred from Direct Assay
more info
 PubMed 
located_in membrane 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 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

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