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

Gene ID: 20930, updated on 5-Jan-2023

Summary

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
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Genomic context

See Surf1 in Genome Data Viewer
Location:
2 A3; 2 19.1 cM
Exon count:
9
Annotation release Status Assembly Chr Location
109 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 small nucleolar RNA SNORD36 Neighboring gene ribosomal protein L7A Neighboring gene predicted gene, 24134 Neighboring gene surfeit gene 2 Neighboring gene surfeit gene 4 Neighboring gene predicted gene, 36591 Neighboring gene serine/threonine kinase-like domain containing 1

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Pathways from PubChem

General gene information

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
PubMed 
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
PubMed 

General protein information

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_001271724.1NP_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/Swiss-Prot
    P09925
    Conserved Domains (1) summary
    pfam02104
    Location:74277
    SURF1; SURF1 family
  2. NM_013677.2NP_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, Q9DCU5
    Related
    ENSMUSP00000015934.8, ENSMUST00000015934.13
    Conserved Domains (1) summary
    cd06662
    Location:81294
    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: Mus musculus Annotation Release 109 details...Open this link in a new tab

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_006497823.5XP_006497886.1  surfeit locus protein 1 isoform X2

    Conserved Domains (1) summary
    cd06662
    Location:45258
    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_006497824.4XP_006497887.1  surfeit locus protein 1 isoform X3

    See identical proteins and their annotated locations for XP_006497887.1

    UniProtKB/TrEMBL
    I6L9E0
    Conserved Domains (1) summary
    cd06662
    Location:38251
    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_006497826.5XP_006497889.1  surfeit locus protein 1 isoform X4

    Conserved Domains (1) summary
    cd06662
    Location:113208
    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_030249117.2XP_030104977.1  surfeit locus protein 1 isoform X3

    UniProtKB/TrEMBL
    I6L9E0
    Conserved Domains (1) summary
    cd06662
    Location:38251
    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_006497821.5XP_006497884.1  surfeit locus protein 1 isoform X1

    Conserved Domains (1) summary
    cd06662
    Location:69282
    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_006497825.4XP_006497888.1  surfeit locus protein 1 isoform X3

    See identical proteins and their annotated locations for XP_006497888.1

    UniProtKB/TrEMBL
    I6L9E0
    Related
    ENSMUSP00000141238.2, ENSMUST00000147110.8
    Conserved Domains (1) summary
    cd06662
    Location:38251
    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