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Aliases for SURF1 Gene

Aliases for SURF1 Gene

  • SURF1, Cytochrome C Oxidase Assembly Factor 2 3 5
  • Surfeit Locus Protein 1 2 3
  • Surfeit 1 2 3
  • SURF-1 4
  • CMT4K 3

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 (SURF1, Cytochrome C Oxidase Assembly Factor) is a Protein Coding gene. Diseases associated with SURF1 include Leigh Syndrome and Charcot-Marie-Tooth Disease Type 4K. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Gene Expression. GO annotations related to this gene include cytochrome-c oxidase activity.

UniProtKB/Swiss-Prot for SURF1 Gene

  • Component of the MITRAC (mitochondrial translation regulation assembly intermediate of cytochrome c oxidase complex) complex, that regulates cytochrome c oxidase assembly.

Gene Wiki entry for SURF1 Gene

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

Genomics for SURF1 Gene

Regulatory Elements for SURF1 Gene

Enhancers for SURF1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH09G133416 1.5 FANTOM5 ENCODE 32.9 -61.3 -61302 3.5 CREB3L1 ZFP64 FEZF1 DMAP1 YBX1 YY1 SLC30A9 ZNF143 ZNF263 SP3 SURF1 SURF6 LINC00094 ADAMTS13 CACFD1 SURF2 SNORD24 SNORD36A SNORD36C SNORD36B
GH09G133420 1.2 Ensembl ENCODE 35 -64.6 -64559 2.3 HDGF TBP PKNOX1 FOXA2 WRNIP1 ARID4B RAD21 ZBTB40 RFX5 ZEB1 SURF1 CACFD1 SURF2 RPL7A SNORD36C SNORD36B SNORD36A SNORD24 MED22 ADAMTS13
GH09G133367 1.5 Ensembl ENCODE dbSUPER 26.4 -13.7 -13699 6.0 YY1 TCF12 ZNF121 ZNF766 GATA2 REST ZNF488 MBD2 SMARCA4 GLIS1 SURF6 SURF1 ADAMTS13 MED22 RPL7A SNORD24 SNORD36B ENSG00000201451 ENSG00000230064 GBGT1
GH09G133346 1.1 ENCODE 28.4 +7.9 7860 4.5 HDGF PKNOX1 CREB3L1 ARNT ZFP64 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 SURF1 ADAMTS13 SURF6 RPL7A GC09P133420 GC09P133417 GC09P133415
GH09G133333 1.2 ENCODE 23.6 +21.4 21393 4.2 MLX CREB3L1 AGO1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC SURF6 SURF1 WDR5 GTF3C4 LOC100130548 REXO4 RXRA TTF1 ADAMTS13 RPL7A
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SURF1 on UCSC Golden Path with GeneCards custom track

Promoters for SURF1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000242573 276 1601 HDGF PKNOX1 SIN3A BRCA1 ZNF2 ZBTB7B YY1 ETS1 GLIS2 ELK1

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

Genes around SURF1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SURF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    • Component of the MITRAC (mitochondrial translation regulation assembly intermediate of cytochrome c oxidase complex) complex, the core components of this complex being COA3/MITRAC12 and COX14. Interacts with COA3.

    Alternative splice isoforms for SURF1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SURF1 Gene

Post-translational modifications for SURF1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SURF1 Gene

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:
Component of the MITRAC (mitochondrial translation regulation assembly intermediate of cytochrome c oxidase complex) complex, that regulates cytochrome c oxidase assembly.

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

Human Phenotype Ontology for SURF1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SURF1 Gene

MGI Knock Outs for SURF1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SURF1 gene
Compartment Confidence
mitochondrion 5
nucleus 2
cytosol 2
plasma membrane 1
extracellular 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for SURF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005743 mitochondrial inner membrane IEA --
GO:0005746 mitochondrial respiratory chain TAS 9843204
GO:0016020 membrane IEA --
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:0033617 mitochondrial respiratory chain complex IV assembly IMP 24027061
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

(2) Drugs for SURF1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) Additional Compounds for SURF1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with SURF1: view

Transcripts for SURF1 Gene

Unigene Clusters for SURF1 Gene

Surfeit 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for SURF1 Gene



Protein tissue co-expression partners for SURF1 Gene

NURSA nuclear receptor signaling pathways regulating expression of SURF1 Gene:

SURF1

SOURCE GeneReport for Unigene cluster for SURF1 Gene:

Hs.512464

Evidence on tissue expression from TISSUES for SURF1 Gene

  • Kidney(4.3)
  • Skin(4.3)
  • Stomach(4.3)
  • Intestine(4.2)
  • Muscle(2.6)
  • Nervous system(2.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SURF1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
Organs:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cranial nerve
  • eye
  • eyelid
  • face
  • head
  • meninges
  • neck
Thorax:
  • lung
Abdomen:
  • liver
General:
  • hair
  • peripheral nervous system
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with SURF1: view

Primer 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
chimpanzee
(Pan troglodytes)
Mammalia SURF1 34 35
  • 99 (n)
dog
(Canis familiaris)
Mammalia SURF1 34 35
  • 88.24 (n)
cow
(Bos Taurus)
Mammalia SURF1 34 35
  • 84.81 (n)
rat
(Rattus norvegicus)
Mammalia Surf1 34
  • 79.75 (n)
mouse
(Mus musculus)
Mammalia Surf1 34 16 35
  • 79.69 (n)
oppossum
(Monodelphis domestica)
Mammalia SURF1 35
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SURF1 35
  • 48 (a)
OneToOne
chicken
(Gallus gallus)
Aves SURF1 34 35
  • 69.93 (n)
lizard
(Anolis carolinensis)
Reptilia SURF1 35
  • 22 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia surf1 34
  • 68.27 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.23733 34
zebrafish
(Danio rerio)
Actinopterygii surf1 34 35
  • 64.06 (n)
Dr.14568 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7095 34
fruit fly
(Drosophila melanogaster)
Insecta Surf1 36 34 35
  • 53.23 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006533 34
  • 50.13 (n)
worm
(Caenorhabditis elegans)
Secernentea sft-1 36 34 35
  • 49.27 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SHY1 35 37
  • 22 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons SURF1 34
  • 47.66 (n)
rice
(Oryza sativa)
Liliopsida Os03g0200700 34
  • 46.79 (n)
Species where no ortholog for SURF1 was found in the sources mined by GeneCards:
  • 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
rs121918658 Pathogenic, Leigh syndrome (LS) [MIM:256000] 133,352,074(-) TGCAG(G/T)ACATC reference, missense
rs28933402 Pathogenic, Leigh syndrome (LS) [MIM:256000] 133,353,893(-) CAGGG(A/G)GTGCT reference, missense
rs398122806 Pathogenic, Leigh syndrome (LS) [MIM:256000] 133,352,518(-) ACCAC(C/T)GGCAT reference, missense
rs782024654 Leigh syndrome (LS) [MIM:256000] 133,354,713(+) CAATC(A/G)GGTTC upstream-variant-2KB, reference, missense, utr-variant-5-prime
rs782033035 Leigh syndrome (LS) [MIM:256000] 133,353,894(+) GCACC(C/T)CCTGA reference, missense

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

Variant ID Type Subtype PubMed ID
esv2739138 CNV deletion 23290073
nsv1125319 OTHER inversion 24896259

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

Human Gene Mutation Database (HGMD)
SURF1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
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
leigh syndrome
  • leigh syndrome due to mitochondrial complex i deficiency
charcot-marie-tooth disease type 4k
  • autosomal recessive demyelinating charcot-marie-tooth disease type 4k
myasthenic syndrome, congenital, 16
  • congenital myasthenic syndrome 16
mitochondrial complex iv deficiency
  • cytochrome-c oxidase deficiency disease
leigh syndrome with leukodystrophy
  • infantile subacute necrotizing encephalopathy with leukodystrophy
- elite association - COSMIC cancer census association via MalaCards
Search SURF1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SURF1_HUMAN
  • Charcot-Marie-Tooth disease 4K (CMT4K) [MIM:616684]: An autosomal recessive, demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. By convention autosomal recessive forms of demyelinating Charcot-Marie-Tooth disease are designated CMT4. CMT4K patients manifest upper and lower limbs involvement. Some affected individuals have nystagmus and late-onset cerebellar ataxia. {ECO:0000269 PubMed:24027061}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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. 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 22 46 64
  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 22 46 64
  3. 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 22 64
  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) 3 22 46 64
  5. Two novel mutations of SURF1 in Leigh syndrome with cytochrome c oxidase deficiency. (PMID: 10647889) Teraoka M. … Seino Y. (Hum. Genet. 1999) 3 4 22 64

Products for SURF1 Gene

Sources for SURF1 Gene

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