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    SURF1 SURF1 cytochrome c oxidase assembly factor [ Homo sapiens (human) ]

    Gene ID: 6834, updated on 8-Jul-2021

    Summary

    Official Symbol
    SURF1provided by HGNC
    Official Full Name
    SURF1 cytochrome c oxidase assembly factorprovided by HGNC
    Primary source
    HGNC:HGNC:11474
    See related
    Ensembl:ENSG00000148290 MIM:185620
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SHY1; CMT4K; MC4DN1
    Summary
    This gene encodes a protein localized to the inner mitochondrial membrane and thought to be involved in the biogenesis of the cytochrome c oxidase complex. The protein is a member of the SURF1 family, which includes the related yeast protein SHY1 and rickettsial protein RP733. The gene is located in the surfeit gene cluster, a group of very tightly linked genes that do not share sequence similarity, where it shares a bidirectional promoter with SURF2 on the opposite strand. Defects in this gene are a cause of Leigh syndrome, a severe neurological disorder that is commonly associated with systemic cytochrome c oxidase deficiency. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in thyroid (RPKM 18.7), kidney (RPKM 18.3) and 25 other tissues See more
    Orthologs
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    Genomic context

    See SURF1 in Genome Data Viewer
    Location:
    9q34.2
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (133351758..133356487, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (136218613..136223363, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA, C/D box 36A Neighboring gene ribosomal protein L7a Neighboring gene small nucleolar RNA, C/D box 36C Neighboring gene surfeit 2 Neighboring gene surfeit 4 Neighboring gene serine/threonine kinase like domain containing 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cytochrome-c oxidase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in aerobic respiration TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in electron transport chain IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mitochondrial cytochrome c oxidase assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in proton transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in respiratory chain complex IV assembly TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in mitochondrial respirasome TAS
    Traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    surfeit locus protein 1
    Names
    surfeit 1
    NP_001267716.1
    NP_003163.1
    XP_011517244.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_008477.1 RefSeqGene

      Range
      4999..9749
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001280787.1NP_001267716.1  surfeit locus protein 1 isoform 2

      See identical proteins and their annotated locations for NP_001267716.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an exon in its 5' UTR and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AI479876, BE645550, BE905282, Z35093
      Consensus CDS
      CCDS75928.1
      UniProtKB/Swiss-Prot
      Q15526
      UniProtKB/TrEMBL
      A0A087WYS9
      Related
      ENSP00000482067.1, ENST00000615505.4
      Conserved Domains (1) summary
      cd06662
      Location:1179
      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. NM_003172.4NP_003163.1  surfeit locus protein 1 isoform 1

      See identical proteins and their annotated locations for NP_003163.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AI479876, AL593848, BE645550, Z35093
      Consensus CDS
      CCDS6966.1
      UniProtKB/Swiss-Prot
      Q15526
      UniProtKB/TrEMBL
      E5KRX5
      Related
      ENSP00000361042.3, ENST00000371974.8
      Conserved Domains (1) summary
      cd06662
      Location:74288
      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 ...

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

      Range
      133351758..133356487 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011518942.1XP_011517244.1  surfeit locus protein 1 isoform X1

      See identical proteins and their annotated locations for XP_011517244.1

      UniProtKB/TrEMBL
      A0A087WYS9
      Conserved Domains (1) summary
      cd06662
      Location:1179
      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 ...

    Reference GRCh38.p13 PATCHES

    Genomic

    1. NW_009646201.1 Reference GRCh38.p13 PATCHES

      Range
      177852..182581 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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