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Aliases for SURF1 Gene

Aliases for SURF1 Gene

  • Surfeit 1 2 3
  • Surfeit Locus Protein 1 2
  • SURF-1 4

External Ids for SURF1 Gene

Previous GeneCards Identifiers for SURF1 Gene

  • GC09M127308
  • GC09M127775
  • GC09M129572
  • GC09M131494
  • GC09M133248
  • GC09M135208
  • GC09M136218
  • GC09M105718

Summaries for SURF1 Gene

Entrez Gene Summary for SURF1 Gene

  • 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]

GeneCards Summary for SURF1 Gene

SURF1 (Surfeit 1) is a Protein Coding gene. Diseases associated with SURF1 include leigh syndrome and surf1-related charcot-marie-tooth disease type 4. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Type II diabetes mellitus. GO annotations related to this gene include cytochrome-c oxidase activity.

UniProtKB/Swiss-Prot for SURF1 Gene

  • Probably involved in the biogenesis of the COX complex

Gene Wiki entry for SURF1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SURF1 Gene

Genomics for SURF1 Gene

Regulatory Elements for SURF1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for SURF1 Gene

133,351,755 bp from pter
133,356,676 bp from pter
4,922 bases
Minus strand

Genomic View for SURF1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SURF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SURF1 Gene

Proteins for SURF1 Gene

  • Protein details for SURF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Surfeit locus protein 1
    Protein Accession:
    Secondary Accessions:
    • Q5T8T3
    • Q5T8T4

    Protein attributes for SURF1 Gene

    300 amino acids
    Molecular mass:
    33331 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for SURF1 Gene


neXtProt entry for SURF1 Gene

Proteomics data for SURF1 Gene at MOPED

Post-translational modifications for SURF1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SURF1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for SURF1 Gene

Domains for SURF1 Gene

Gene Families for SURF1 Gene

  • MITOAF :Mitochondrial respiratory chain complex assembly factors

Protein Domains for SURF1 Gene


Suggested Antigen Peptide Sequences for SURF1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Q15526
  • Belongs to the SURF1 family.
genes like me logo Genes that share domains with SURF1: view

Function for SURF1 Gene

Molecular function for SURF1 Gene

GENATLAS Biochemistry:
surfeit 1 (see SURF@),homolog of SHY1,yeast mitochondrial protein,member of a cluster of housekeeping gene,putatively involved in the assembly or maintenance of an active cytochrome oxidase complex,ubiquitously expressed,located in tightly bound to the mitochondrial inner membrane
UniProtKB/Swiss-Prot Function:
Probably involved in the biogenesis of the COX complex

Gene Ontology (GO) - Molecular Function for SURF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004129 cytochrome-c oxidase activity IEA --
GO:0005515 protein binding IPI 23260140
genes like me logo Genes that share ontologies with SURF1: view
genes like me logo Genes that share phenotypes with SURF1: view

Animal Models for SURF1 Gene

MGI Knock Outs for SURF1:

Animal Model Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SURF1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for SURF1 Gene

Localization for SURF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SURF1 Gene

Mitochondrion inner membrane; Multi-pass membrane protein.

Subcellular locations from

Jensen Localization Image for SURF1 Gene COMPARTMENTS Subcellular localization image for SURF1 gene
Compartment Confidence
mitochondrion 5
cytosol 2
nucleus 2
extracellular 1
golgi apparatus 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for SURF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion --
GO:0005746 mitochondrial respiratory chain TAS 9843204
GO:0016020 membrane --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SURF1: view

Pathways for SURF1 Gene

genes like me logo Genes that share pathways with SURF1: view

Pathways by source for SURF1 Gene

2 BioSystems pathways for SURF1 Gene

Gene Ontology (GO) - Biological Process for SURF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006119 oxidative phosphorylation IMP 20888800
GO:0006754 ATP biosynthetic process IMP 20888800
GO:0008535 respiratory chain complex IV assembly TAS 9843204
GO:0009060 aerobic respiration TAS 9843204
GO:0055114 oxidation-reduction process TAS 9843204
genes like me logo Genes that share ontologies with SURF1: view

Compounds for SURF1 Gene

(4) Novoseek inferred chemical compound relationships for SURF1 Gene

Compound -log(P) Hits PubMed IDs
lactate 22 2
pyruvate 16.7 1
bicarbonate 2.46 1
oxygen 0 2
genes like me logo Genes that share compounds with SURF1: view

Transcripts for SURF1 Gene

Unigene Clusters for SURF1 Gene

Surfeit 1:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SURF1

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SURF1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10a · 10b
SP1: -
SP3: - -

Relevant External Links for SURF1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for SURF1 Gene

mRNA expression in normal human tissues for SURF1 Gene

Protein differential expression in normal tissues for SURF1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (14.3) and Bone (8.2).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for SURF1 Gene

SOURCE GeneReport for Unigene cluster for SURF1 Gene Hs.512464

genes like me logo Genes that share expressions with SURF1: view

Expression partners for SURF1 Gene

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for SURF1 Gene

Orthologs for SURF1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SURF1 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia SURF1 35
  • 84.81 (n)
  • 84.81 (a)
SURF1 36
  • 33 (a)
(Canis familiaris)
Mammalia SURF1 35
  • 88.24 (n)
  • 88.36 (a)
SURF1 36
  • 76 (a)
(Mus musculus)
Mammalia Surf1 35
  • 79.69 (n)
  • 79.8 (a)
Surf1 16
Surf1 36
  • 75 (a)
(Pan troglodytes)
Mammalia SURF1 35
  • 99 (n)
  • 98.67 (a)
SURF1 36
  • 99 (a)
(Rattus norvegicus)
Mammalia Surf1 35
  • 79.75 (n)
  • 78.86 (a)
(Monodelphis domestica)
Mammalia SURF1 36
  • 72 (a)
(Ornithorhynchus anatinus)
Mammalia SURF1 36
  • 48 (a)
(Gallus gallus)
Aves SURF1 35
  • 69.93 (n)
  • 69.8 (a)
SURF1 36
  • 59 (a)
(Anolis carolinensis)
Reptilia SURF1 36
  • 22 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia surf1 35
  • 68.27 (n)
  • 70.8 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.23733 35
(Danio rerio)
Actinopterygii Dr.14568 35
surf1 35
  • 64.06 (n)
  • 66.17 (a)
surf1 36
  • 57 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7095 35
fruit fly
(Drosophila melanogaster)
Insecta Surf1 37
  • 46 (a)
Surf1 35
  • 53.23 (n)
  • 47.67 (a)
Surf1 36
  • 41 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006533 35
  • 50.13 (n)
  • 47.67 (a)
(Caenorhabditis elegans)
Secernentea sft-1 37
  • 45 (a)
sft-1 35
  • 49.27 (n)
  • 44.62 (a)
sft-1 36
  • 33 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SHY1 36
  • 22 (a)
SHY1 38
thale cress
(Arabidopsis thaliana)
eudicotyledons SURF1 35
  • 47.66 (n)
  • 37.02 (a)
(Oryza sativa)
Liliopsida Os03g0200700 35
  • 46.79 (n)
  • 35.78 (a)
Species with no ortholog for SURF1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SURF1 Gene

Gene Tree for SURF1 (if available)
Gene Tree for SURF1 (if available)

Paralogs for SURF1 Gene

No data available for Paralogs for SURF1 Gene

Variants for SURF1 Gene

Sequence variations from dbSNP and Humsavar for SURF1 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type MAF
rs571549 -- 133,354,358(+) ATCTG(C/T)CCTCA intron-variant
rs2021976 -- 133,352,034(+) GGGAG(A/G)AAGCC intron-variant
rs28483151 -- 133,353,473(+) AACTA(A/G)ACAGT intron-variant
rs28709939 -- 133,353,607(+) TAAAC(G/T)ATGCA intron-variant
rs28715079 Benign 133,352,709(+) TGCCG(C/G)GTTTC reference, synonymous-codon

Structural Variations from Database of Genomic Variants (DGV) for SURF1 Gene

Variant ID Type Subtype PubMed ID
esv2739138 CNV Deletion 23290073
nsv894057 CNV Gain 21882294
dgv8325n71 CNV Loss 21882294
nsv894076 CNV Loss 21882294
nsv894079 CNV Loss 21882294
nsv894080 CNV Loss 21882294

Relevant External Links for SURF1 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SURF1 Gene

Disorders for SURF1 Gene

(1) OMIM Diseases for SURF1 Gene (185620)


  • Leigh syndrome (LS) [MIM:256000]: An early-onset progressive neurodegenerative disorder characterized by the presence of focal, bilateral lesions in one or more areas of the central nervous system including the brainstem, thalamus, basal ganglia, cerebellum and spinal cord. Clinical features depend on which areas of the central nervous system are involved and include subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, and dysphagia. {ECO:0000269 PubMed:10647889, ECO:0000269 PubMed:10746561, ECO:0000269 PubMed:14564068, ECO:0000269 PubMed:21937992, ECO:0000269 PubMed:22410471, ECO:0000269 PubMed:22488715, ECO:0000269 PubMed:9843204}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for SURF1 Gene

(8) Novoseek inferred disease relationships for SURF1 Gene

Disease -log(P) Hits PubMed IDs
leigh syndrome 98 77
cytochrome c oxidase deficiency 97.5 29
mitochondrial diseases 79 1
leukodystrophy 68 5
neurodegenerative diseases 50.1 3

Genatlas disease for SURF1 Gene

subacute necrotizing encephalopathy Leigh syndrome characterized by lactate acidosis,bilaterally symmetrical necrotic lesions in the brainstem,basal ganglia,thalamus and spinal cord,occuring predominantly in infants and associated with a systemic deficit in cytochrome c oxidase

Relevant External Links for SURF1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with SURF1: view

Publications for SURF1 Gene

  1. SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome. (PMID: 9843204) Zhu Z. … Shoubridge E.A. (Nat. Genet. 1998) 2 3 4 23
  2. Missense mutations in SURF1 associated with deficient cytochrome c oxidase assembly in Leigh syndrome patients. (PMID: 10746561) Poyau A. … Godinot C. (Hum. Genet. 2000) 3 4 23 48
  3. Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome C oxidase deficiency. (PMID: 11317352) Pequignot M.O. … Marsac C. (Hum. Mutat. 2001) 3 4 23 48
  4. The Surf-1 and Surf-2 genes and their essential bidirectional promoter elements are conserved between mouse and human. (PMID: 7702754) Lennard A. … Fried M. (DNA Cell Biol. 1994) 3 4 23
  5. The organization and conservation of the human Surfeit gene cluster and its localization telomeric to the c-abl and can proto-oncogenes at chromosome band 9q34.1. (PMID: 8499913) Yon J. … Fried M. (Hum. Mol. Genet. 1993) 2 3 23

Products for SURF1 Gene

Sources for SURF1 Gene

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