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    Surf1 surfeit gene 1 [ Mus musculus (house mouse) ]

    Gene ID: 20930, updated on 14-May-2024

    Summary

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    Official Symbol
    Surf1provided by MGI
    Official Full Name
    surfeit gene 1provided by MGI
    Primary source
    MGI:MGI:98443
    See related
    Ensembl:ENSMUSG00000015790 AllianceGenome:MGI:98443
    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
    Surf-1; 0610010F23Rik
    Summary
    Enables cytochrome-c oxidase activity. Predicted to be involved in mitochondrial cytochrome c oxidase assembly. Located in mitochondrion. Is expressed in brain; embryo; and skeletal muscle. Used to study Leigh disease. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease type 4K; Leigh disease; and cytochrome-c oxidase deficiency disease. Orthologous to human SURF1 (SURF1 cytochrome c oxidase assembly factor). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in adrenal adult (RPKM 27.0), cerebellum adult (RPKM 26.8) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Surf1 in Genome Data Viewer
    Location:
    2 A3; 2 19.1 cM
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (26803390..26806667, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (26913378..26916610, complement)

    Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene ribosomal protein L7A Neighboring gene predicted gene, 24134 Neighboring gene predicted gene, 57689 Neighboring gene surfeit gene 2 Neighboring gene surfeit gene 4 Neighboring gene STARR-positive B cell enhancer ABC_E2605 Neighboring gene serine/threonine kinase-like domain containing 1 Neighboring gene REX4, 3'-5' exonuclease Neighboring gene CapStarr-seq enhancer MGSCv37_chr2:26819876-26820059

    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. Glycolytic preconditioning in astrocytes mitigates trauma-induced neurodegeneration. Solano Fonseca R, et al. Elife, 2021 Sep 2. PMID 34473622, Free PMC Article
    2. Lifelong reduction in complex IV induces tissue-specific metabolic effects but does not reduce lifespan or healthspan in mice. Deepa SS, et al. Aging Cell, 2018 Aug. PMID 29696791, Free PMC Article
    3. Ablation of the mitochondrial complex IV assembly protein Surf1 leads to increased expression of the UPR(MT) and increased resistance to oxidative stress in primary cultures of fibroblasts. Pharaoh G, et al. Redox Biol, 2016 Aug. PMID 27208630, Free PMC Article
    4. Complex IV-deficient Surf1(-/-) mice initiate mitochondrial stress responses. Pulliam DA, et al. Biochem J, 2014 Sep 1. PMID 24911525, Free PMC Article
    5. Improved insulin sensitivity associated with reduced mitochondrial complex IV assembly and activity. Deepa SS, et al. FASEB J, 2013 Apr. PMID 23241310

    See all (39) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Many proteins and metabolites are downregulated in Surf1(-/-) adipose tissue and reversed by Dietary restriction (DR), while in brain, most metabolites that changed were elevated in Surf1(-/-) mice.
      Title: Lifelong reduction in complex IV induces tissue-specific metabolic effects but does not reduce lifespan or healthspan in mice.
    2. studies support the view that COX assembly is much more dependent on SURF1 in humans than in mice.
      Title: Tissue- and species-specific differences in cytochrome c oxidase assembly induced by SURF1 defects.
    3. Fibroblasts from Surf1(-/-) mice are significantly more resistant to cell death caused by oxidative stress induced by paraquat or tert-Butyl hydroperoxide compared to cells from wild-type mice. In contrast, Surf1(-/-) fibroblasts show no difference in sensitivity to hydrogen peroxide stress
      Title: Ablation of the mitochondrial complex IV assembly protein Surf1 leads to increased expression of the UPR(MT) and increased resistance to oxidative stress in primary cultures of fibroblasts.
    4. These findings suggest that Surf1 deficiency-induced metabolic alterations may have positive effects on brain function.
      Title: Decreased in vitro mitochondrial function is associated with enhanced brain metabolism, blood flow, and memory in Surf1-deficient mice.
    5. The expression of peroxisome proliferator-activated receptor gamma-coactivator 1-alpha (PGC-1alpha) mRNA and protein was up-regulated in white adipose tissue from Surf1-/- mice, and the expression of PGC-1alpha target genes
      Title: Improved insulin sensitivity associated with reduced mitochondrial complex IV assembly and activity.
    6. Compared to wild type (WT) preparations Surf1 knockout preparations had a higher baseline respiratory frequency and abnormal responses to hypoxia and hypercapnia that involved both respiratory frequency and motor nerve discharge pattern.
      Title: Hypoxic and hypercapnic challenges unveil respiratory vulnerability of Surf1 knockout mice, an animal model of Leigh syndrome.
    7. murine Surf1 protein (Surf1p) has a function specifically related to cytochrome c oxidase
      Title: Constitutive knockout of Surf1 is associated with high embryonic lethality, mitochondrial disease and cytochrome c oxidase deficiency in mice.
    8. Prolonged lifespan and complete protection from Ca(2+)-dependent neurotoxicity induced by kainic acid in Surf-1 knockout mice.
      Title: Increased longevity and refractoriness to Ca(2+)-dependent neurodegeneration in Surf1 knockout mice.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1) 
    • Targeted (3)  1 citation

    Pathways from PubChem

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    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables cytochrome-c oxidase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in mitochondrial cytochrome c oxidase assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mitochondrial cytochrome c oxidase assembly ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in mitochondrion HDA PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    surfeit locus protein 1
    NP_001258653.2
    NP_038705.2
    XP_006497884.1
    XP_006497886.1
    XP_006497887.1
    XP_006497888.1
    XP_006497889.1
    XP_030104977.1

    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_001271724.1 → NP_001258653.2  surfeit locus protein 1 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice junction at the 5' end of an exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1. An in-frame AUG is located 32 codons upstream of the annotated translation start site but is not being annotated as a start site since it is not conserved and is in a weak Kozak sequence context.
      Source sequence(s)
      AK002469, AL773563, BE955575
      UniProtKB/TrEMBL
      Q3U3J6
      Conserved Domains (1) summary
      pfam02104
      Location:74 → 277
      SURF1; SURF1 family

    2. NM_013677.2 → NP_038705.2  surfeit locus protein 1 isoform 1

      See identical proteins and their annotated locations for NP_038705.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1). An in-frame AUG is located 32 codons upstream of the annotated translation start site but is not being annotated as a start site since it is not conserved and is in a weak Kozak sequence context.
      Source sequence(s)
      AK002469, AL773563, BE955575, BU697260, CB524655
      Consensus CDS
      CCDS50543.1
      UniProtKB/Swiss-Prot
      P09925, Q99KB4, Q9DCU5
      UniProtKB/TrEMBL
      Q3U3J6
      Related
      ENSMUSP00000015934.8, ENSMUST00000015934.13
      Conserved Domains (1) summary
      cd06662
      Location:81 → 294
      SURF1; SURF1 superfamily. Surf1/Shy1 has been implicated in the posttranslational steps of the biogenesis of the mitochondrially-encoded Cox1 subunit of cytochrome c oxidase (complex IV). Cytochrome c oxidase (complex IV), the terminal electron-transferring ...

    RNA

    1. NR_073420.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate 5' exon structure compared to variant 1. This variant is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with translation of the longest ORF; translation of the upstream ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK002469, AL773563, BE955575, BY268659, CB524655
      Related
      ENSMUST00000167661.7

    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_000068.8 Reference GRCm39 C57BL/6J

      Range
      26803390..26806667 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006497823.5 → XP_006497886.1  surfeit locus protein 1 isoform X2

      UniProtKB/TrEMBL
      A0A0A6YVR9
      Conserved Domains (1) summary
      cd06662
      Location:45 → 258
      SURF1; SURF1 superfamily. Surf1/Shy1 has been implicated in the posttranslational steps of the biogenesis of the mitochondrially-encoded Cox1 subunit of cytochrome c oxidase (complex IV). Cytochrome c oxidase (complex IV), the terminal electron-transferring ...

    2. XM_006497824.4 → XP_006497887.1  surfeit locus protein 1 isoform X3

      See identical proteins and their annotated locations for XP_006497887.1

      UniProtKB/TrEMBL
      A0A0A6YVR9, I6L9E0
      Conserved Domains (1) summary
      cd06662
      Location:38 → 251
      SURF1; SURF1 superfamily. Surf1/Shy1 has been implicated in the posttranslational steps of the biogenesis of the mitochondrially-encoded Cox1 subunit of cytochrome c oxidase (complex IV). Cytochrome c oxidase (complex IV), the terminal electron-transferring ...

    3. XM_006497826.5 → XP_006497889.1  surfeit locus protein 1 isoform X4

      Conserved Domains (1) summary
      cd06662
      Location:113 → 208
      SURF1; SURF1 superfamily. Surf1/Shy1 has been implicated in the posttranslational steps of the biogenesis of the mitochondrially-encoded Cox1 subunit of cytochrome c oxidase (complex IV). Cytochrome c oxidase (complex IV), the terminal electron-transferring ...

    4. XM_030249117.2 → XP_030104977.1  surfeit locus protein 1 isoform X3

      UniProtKB/TrEMBL
      A0A0A6YVR9, I6L9E0
      Conserved Domains (1) summary
      cd06662
      Location:38 → 251
      SURF1; SURF1 superfamily. Surf1/Shy1 has been implicated in the posttranslational steps of the biogenesis of the mitochondrially-encoded Cox1 subunit of cytochrome c oxidase (complex IV). Cytochrome c oxidase (complex IV), the terminal electron-transferring ...

    5. XM_006497821.5 → XP_006497884.1  surfeit locus protein 1 isoform X1

      UniProtKB/TrEMBL
      A0A0A6YVR9
      Conserved Domains (1) summary
      cd06662
      Location:69 → 282
      SURF1; SURF1 superfamily. Surf1/Shy1 has been implicated in the posttranslational steps of the biogenesis of the mitochondrially-encoded Cox1 subunit of cytochrome c oxidase (complex IV). Cytochrome c oxidase (complex IV), the terminal electron-transferring ...

    6. XM_006497825.4 → XP_006497888.1  surfeit locus protein 1 isoform X3

      See identical proteins and their annotated locations for XP_006497888.1

      UniProtKB/TrEMBL
      A0A0A6YVR9, I6L9E0
      Related
      ENSMUSP00000141238.2, ENSMUST00000147110.8
      Conserved Domains (1) summary
      cd06662
      Location:38 → 251
      SURF1; SURF1 superfamily. Surf1/Shy1 has been implicated in the posttranslational steps of the biogenesis of the mitochondrially-encoded Cox1 subunit of cytochrome c oxidase (complex IV). Cytochrome c oxidase (complex IV), the terminal electron-transferring ...

    RNA

    1. XR_374066.5 RNA Sequence

    2. XR_003951791.2 RNA Sequence

    3. XR_004939256.1 RNA Sequence

      Related
      ENSMUST00000183520.8

    4. XR_003951793.1 RNA Sequence

    5. XR_004939255.1 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P09925.3 GenPept UniProtKB/Swiss-Prot:P09925

    Gene LinkOut

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

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