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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 surf1-related charcot-marie-tooth disease type 4 and leigh syndrome. Among its related pathways are Metabolism and Gene Expression. 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

Chromosome:
9
Start:
133,351,755 bp from pter
End:
133,356,676 bp from pter
Size:
4,922 bases
Orientation:
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:
    Q15526-SURF1_HUMAN
    Recommended name:
    Surfeit locus protein 1
    Protein Accession:
    Q15526
    Secondary Accessions:
    • Q5T8T3
    • Q5T8T4

    Protein attributes for SURF1 Gene

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

    Alternative splice isoforms for SURF1 Gene

    UniProtKB/Swiss-Prot:

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:

No data available for DME Specific Peptides for SURF1 Gene

Domains & Families for SURF1 Gene

Protein Domains for SURF1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for SURF1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q15526

UniProtKB/Swiss-Prot:

SURF1_HUMAN :
  • Belongs to the SURF1 family.
Family:
  • 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 Targets 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

COMPARTMENTS
Jensen Localization Image for SURF1 Gene COMPARTMENTS Subcellular localization image for SURF1 gene
Compartment Confidence
mitochondrion 4
nucleus 2

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 & Interactions for SURF1 Gene

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

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

No data available for SIGNOR curated interactions for SURF1 Gene

Drugs & Compounds for SURF1 Gene

(1) Drugs for SURF1 Gene - From: NovoSeek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
pyruvate Nutra 27

(3) Additional Compounds for SURF1 Gene - From: NovoSeek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
bicarbonate
lactate
oxygen
  • Dioxygen
  • Molecular oxygen
  • O2
  • Oxygen
  • Oxygen molecule
7782-44-7
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

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: -
SP2:
SP3: - -
SP4:

Relevant External Links for SURF1 Gene

GeneLoc Exon Structure for
SURF1
ECgene alternative splicing isoforms for
SURF1

Expression for SURF1 Gene

mRNA expression in normal human tissues for SURF1 Gene

Protein differential expression in normal tissues from HIPED for SURF1 Gene

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

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with SURF1: view

Protein tissue co-expression partners for SURF1 Gene

Primer Products

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
cow
(Bos Taurus)
Mammalia SURF1 35
  • 84.81 (n)
  • 84.81 (a)
SURF1 36
  • 33 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SURF1 35
  • 88.24 (n)
  • 88.36 (a)
SURF1 36
  • 76 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Surf1 35
  • 79.69 (n)
  • 79.8 (a)
Surf1 16
Surf1 36
  • 75 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SURF1 35
  • 99 (n)
  • 98.67 (a)
SURF1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Surf1 35
  • 79.75 (n)
  • 78.86 (a)
oppossum
(Monodelphis domestica)
Mammalia SURF1 36
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SURF1 36
  • 48 (a)
OneToOne
chicken
(Gallus gallus)
Aves SURF1 35
  • 69.93 (n)
  • 69.8 (a)
SURF1 36
  • 59 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SURF1 36
  • 22 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia surf1 35
  • 68.27 (n)
  • 70.8 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.23733 35
zebrafish
(Danio rerio)
Actinopterygii Dr.14568 35
surf1 35
  • 64.06 (n)
  • 66.17 (a)
surf1 36
  • 57 (a)
OneToOne
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)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006533 35
  • 50.13 (n)
  • 47.67 (a)
worm
(Caenorhabditis elegans)
Secernentea sft-1 37
  • 45 (a)
sft-1 35
  • 49.27 (n)
  • 44.62 (a)
sft-1 36
  • 33 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SHY1 36
  • 22 (a)
OneToOne
SHY1 38
thale cress
(Arabidopsis thaliana)
eudicotyledons SURF1 35
  • 47.66 (n)
  • 37.02 (a)
rice
(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

ENSEMBL:
Gene Tree for SURF1 (if available)
TreeFam:
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
rs28715079 Benign, Benign 133,352,709(+) TGCCG(A/C/G)GTTTC reference, synonymous-codon
rs28933402 Pathogenic, Pathogenic, Leigh syndrome (LS) 133,353,893(-) CAGGG(A/C/G/T)GTGCT missense, reference
rs34237963 -- 133,352,249(+) TGGCC(-/T)TTTAC intron-variant
rs41296099 Benign, Benign 133,352,440(+) CCACA(A/G)CGTAC intron-variant
rs72619327 Benign, Benign, - 133,352,593(+) GAGGT(A/C/G)CACTT missense, reference

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

Variation tolerance for SURF1 Gene

Residual Variation Intolerance Score: 45.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.82; 58.49% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SURF1 Gene

HapMap Linkage Disequilibrium report
SURF1
Human Gene Mutation Database (HGMD)
SURF1

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

Disorders for SURF1 Gene

MalaCards: The human disease database

(16) MalaCards diseases for SURF1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
surf1-related charcot-marie-tooth disease type 4
  • cmt4k
leigh syndrome
  • leigh syndrome due to mitochondrial complex i deficiency
leigh syndrome with cardiomyopathy
  • cardiomyopathy with hypotonia due to cytochrome c oxidase deficiency
mitochondrial metabolism disease
  • mitochondrial diseases
myasthenic syndrome, congenital, 16
  • congenital myasthenic syndrome, acetazolamide-responsive
- elite association
Search SURF1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SURF1_HUMAN
  • 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.

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)
SURF1
Human Genome Epidemiology (HuGE) Navigator
SURF1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SURF1
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 23 67
  2. 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 23 67
  3. [Syndrome Leigh caused by mutations in the SURF1 gene: clinical and molecular-genetic characteristics]. (PMID: 20436434) Tsygankova P.G. … Matiushchenko G.N. (Zh Nevrol Psikhiatr Im S S Korsakova 2010) 23 67
  4. High prevalence of SURF1 c.845_846delCT mutation in Polish Leigh patients. (PMID: 18583168) Piekutowska-Abramczuk D. … Pronicka E. (Eur. J. Paediatr. Neurol. 2009) 23 67
  5. Heterogeneity of magnetic resonance imaging in Leigh syndrome with SURF1 gene 604G-->C mutation. (PMID: 19135921) Xie S. … Jiang X.X. (Clin Imaging 2009) 23 67

Products for SURF1 Gene

Sources for SURF1 Gene

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