SURF1 Gene (Protein Coding)

SURF1 Cytochrome C Oxidase Assembly Factor

GC09M133351
GIFtS:
44
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 shar... See more...

Aliases for SURF1 Gene

Aliases for SURF1 Gene

  • SURF1 Cytochrome C Oxidase Assembly Factor 2 3 5
  • Surfeit Locus Protein 1 2 3 4
  • Surfeit 1 2 3
  • MC4DN1 3
  • SURF-1 4
  • CMT4K 3
  • SURF1 5

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 Charcot-Marie-Tooth Disease, Type 4K and Mitochondrial Complex Iv Deficiency, Nuclear Type 1. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Gene Expression. Gene Ontology (GO) annotations related to this gene include cytochrome-c oxidase activity. An important paralog of this gene is SURF4.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for SURF1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SURF1 Gene

Genomics for SURF1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for SURF1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SURF1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SURF1

Top Transcription factor binding sites by QIAGEN in the SURF1 gene promoter:
  • ER-alpha
  • FOXI1
  • FOXL1
  • HFH-3
  • HOXA5
  • HTF
  • Lmo2
  • Nkx2-5
  • Pax-4a

Genomic Locations for SURF1 Gene

Latest Assembly
chr9:133,351,758-133,356,676
(GRCh38/hg38)
Size:
4,919 bases
Orientation:
Minus strand

Previous Assembly
chr9:136,218,613-136,223,363
(GRCh37/hg19 by Entrez Gene)
Size:
4,751 bases
Orientation:
Minus strand

chr9:136,218,610-136,223,552
(GRCh37/hg19 by Ensembl)
Size:
4,943 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 Structure • Gene Density

RefSeq DNA sequence for SURF1 Gene

Proteins for SURF1 Gene

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  • 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

Protein Expression for SURF1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

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

Gene Families for SURF1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted membrane proteins

Protein Domains for SURF1 Gene

InterPro:
Blocks:
  • Surf1 protein
ProtoNet:

Suggested Antigen Peptide Sequences for SURF1 Gene

GenScript: Design optimal peptide antigens:
  • SURF-1 protein (Q9UE08_HUMAN)
  • Surfeit locus protein 1 (SURF1_HUMAN)

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

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Molecular function for SURF1 Gene

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.
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

Phenotypes From GWAS Catalog for SURF1 Gene

Gene Ontology (GO) - Molecular Function for SURF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004129 cytochrome-c oxidase activity TAS,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 Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SURF1

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
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 0

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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SURF1 Gene

Pathways & Interactions for SURF1 Gene

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

SIGNOR curated interactions for SURF1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for SURF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006119 oxidative phosphorylation IMP 20888800
GO:0008535 respiratory chain complex IV assembly TAS 9843204
GO:0009060 aerobic respiration TAS 9843204
GO:0022900 electron transport chain IEA --
GO:0033617 mitochondrial respiratory chain complex IV assembly IMP 24027061
genes like me logo Genes that share ontologies with SURF1: view

Drugs & Compounds for SURF1 Gene

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(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

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mRNA/cDNA for SURF1 Gene

2 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SURF1

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

Expression for SURF1 Gene

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  1. Primer products for research
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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SURF1 Gene

mRNA expression in normal human tissues for SURF1 Gene
mRNA expression by BioGPS for SURF1 GenemRNA expression by GTEx 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, MaxQB, and MOPED for SURF1 Gene



Protein tissue co-expression partners for SURF1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SURF1

SOURCE GeneReport for Unigene cluster for SURF1 Gene:

Hs.512464

Evidence on tissue expression from TISSUES for SURF1 Gene

  • Kidney(4.5)
  • Skin(4.5)
  • Intestine(4.4)
  • Stomach(4.3)
  • Muscle(2.8)
  • Nervous system(2.5)
  • Heart(2.5)
  • Liver(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
Regions:
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

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 30 31
  • 99 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia SURF1 30 31
  • 88.24 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia SURF1 30 31
  • 84.81 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Surf1 30
  • 79.75 (n)
Mouse
(Mus musculus)
 Mammalia Surf1 30 17 31
  • 79.69 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia SURF1 31
  • 72 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia SURF1 31
  • 48 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves SURF1 30 31
  • 69.93 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia SURF1 31
  • 22 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia surf1 30
  • 68.27 (n)
African clawed frog
(Xenopus laevis)
 Amphibia Xl.23733 30
Zebrafish
(Danio rerio)
 Actinopterygii surf1 30 31
  • 64.06 (n)
 OneToOne
Dr.14568 30
Rainbow Trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.7095 30
Fruit Fly
(Drosophila melanogaster)
 Insecta Surf1 30 31 32
  • 53.23 (n)
 OneToOne
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP006533 30
  • 50.13 (n)
Worm
(Caenorhabditis elegans)
 Secernentea sft-1 30 31 32
  • 49.27 (n)
 OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes SHY1 31 33
  • 22 (a)
 OneToOne
Thale Cress
(Arabidopsis thaliana)
 eudicotyledons SURF1 30
  • 47.66 (n)
Rice
(Oryza sativa)
 Liliopsida Os03g0200700 30
  • 46.79 (n)
Species where no ortholog for SURF1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for SURF1: view image

Paralogs for SURF1 Gene

Paralogs for SURF1 Gene

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

Variants for SURF1 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SURF1 Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
847261 Uncertain Significance: Leigh syndrome 133,353,825(-) G/A
NM_003172.4(SURF1):c.439C>T (p.Arg147Trp) 		MISSENSE
847821 Pathogenic: Leigh syndrome 133,352,725(-) TTC/T
NM_003172.4(SURF1):c.555_556del (p.Lys186fs) 		FRAMESHIFT
854292 Uncertain Significance: Leigh syndrome 133,352,090(-) C/G
NM_003172.4(SURF1):c.804G>C (p.Arg268Ser) 		MISSENSE
856179 Uncertain Significance: Leigh syndrome 133,352,606(-) A/T
NM_003172.4(SURF1):c.591T>A (p.Ile197=) 		SYNONYMOUS
864330 Uncertain Significance: Leigh syndrome 133,354,731(-) C/G
NM_003172.4(SURF1):c.251G>C (p.Arg84Pro) 		MISSENSE_VARIANT,FIVE_PRIME_UTR

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SURF1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for SURF1 Gene

Human Gene Mutation Database (HGMD)
SURF1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SURF1

SNP Genotyping and Copy Number Assays for research

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

Disorders for SURF1 Gene

MalaCards: The human disease database

(36) MalaCards diseases for SURF1 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- 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
  • 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:16120373, ECO:0000269 PubMed:21937992, ECO:0000269 PubMed:22410471, ECO:0000269 PubMed:22488715, ECO:0000269 PubMed:26443249, ECO:0000269 PubMed:29715184, ECO:0000269 PubMed:29933018, ECO:0000269 PubMed:9843204}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • 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 variants 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

Additional Disease Information for SURF1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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 EA (Nature genetics 1998) 2 3 4 23 74
  2. Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome C oxidase deficiency. (PMID: 11317352) Péquignot MO … Marsac C (Human mutation 2001) 3 4 23 41
  3. Missense mutations in SURF1 associated with deficient cytochrome c oxidase assembly in Leigh syndrome patients. (PMID: 10746561) Poyau A … Godinot C (Human genetics 2000) 3 4 23 41
  4. SURF1 deficiency causes demyelinating Charcot-Marie-Tooth disease. (PMID: 24027061) Echaniz-Laguna A … Mousson de Camaret B (Neurology 2013) 3 4 74
  5. High prevalence of SURF1 c.845_846delCT mutation in Polish Leigh patients. (PMID: 18583168) Piekutowska-Abramczuk D … Pronicka E (European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2009) 3 23 41

ExternalLinks

View latest publications for SURF1 gene in Mastermind

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