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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SURF1 Gene

protein-coding   GIFtS: 56
GCID: GC09M136218

surfeit 1

 Explore 17 diseases affiliated with
SURF1 via our new
 Human Malady Compendium 
Biological research products
for SURF1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Surfeit 11 2
Surfeit Locus Protein 12
SURF-13

External Ids:    HGNC: 114741   Entrez Gene: 68342   Ensembl: ENSG000001482907   OMIM: 1856205   UniProtKB: Q155263   

Export aliases for SURF1 gene to outside databases

Previous GC identifers: GC09M127308 GC09M127775 GC09M129572 GC09M131494 GC09M133248 GC09M135208 GC09M105718


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for SURF1:
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)

UniProtKB/Swiss-Prot: SURF1_HUMAN, Q15526
Function: Probably involved in the biogenesis of the COX complex

Gene Wiki entry for SURF1


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000009.11  NC_018920.1  NT_035014.4  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SURF1 gene promoter:
         HFH-3   ER-alpha   HTF   Lmo2   Nkx2-5   FOXL1   FOXI1   HOXA5   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSURF1 promoter sequence
   Search SABiosciences Chromatin IP Primers for SURF1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SURF1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 9q34.2   Ensembl cytogenetic band:  9q34.2   HGNC cytogenetic band: 9q33-q34

SURF1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SURF1 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M136218:  view genomic region     (about GC identifiers)

Start:
136,218,610 bp from pter      End:
136,223,552 bp from pter
Size:
4,943 bases      Orientation:
minus strand

1 alternative location:
Chr9-,PATCHES 136,222,139-136,226,813     

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: SURF1_HUMAN, Q15526 (See protein sequence)
Recommended Name: Surfeit locus protein 1  
Size: 300 amino acids; 33331 Da
Subcellular location: Mitochondrion inner membrane; Multi-pass membrane protein (By similarity)
Secondary accessions: Q5T8T3 Q5T8T4
Alternative splicing: 2 isoforms:  Q15526-1   Q15526-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SURF1: NX_Q15526

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q15526

  • SURF1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_003163.1  
    ENSEMBL proteins: 
     ENSP00000361042   ENSP00000397093  

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    Novus Biologicals SURF1 Proteins
    Novus Biologicals SURF1 Lysates
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    ProSpec Recombinant Protein for SURF1
    Uscn Proteins for SURF1

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion ----
    GO:0005746mitochondrial respiratory chain TAS9843204
    GO:0016021integral to membrane IEA--


    SURF1 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for SURF1


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    SURF1 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR002994 Surf1/Shy1

    Graphical View of Domain Structure for InterPro Entry Q15526

    ProtoNet protein and cluster: Q15526

    1 Blocks protein family: IPB002994 Surf1 protein

    UniProtKB/Swiss-Prot: SURF1_HUMAN, Q15526
    Similarity: Belongs to the SURF1 family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: SURF1_HUMAN, Q15526
    Function: Probably involved in the biogenesis of the COX complex

         Genatlas biochemistry entry for SURF1:
    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

    miRNA
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    Inhib. RNA
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    OriGene shRNA RFP: SURF1
    OriGene siRNA: SURF1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SURF1

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    Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004129cytochrome-c oxidase activity IEA--


    SURF1 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-outs for SURF1: Surf1tm2Zev Surf1tm2.1Zev Surf1tm1Zev
         9 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Surf1):
     behavior/neurological  cellular  embryogenesis  growth/size  homeostasis/metabolism 
     limbs/digits/tail  mortality/aging  nervous system  reproductive system 

    SURF1 for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    Electron Transport Chain0.76
    2Type II diabetes mellitus
    Type II diabetes mellitus0.35


    2 BioSystems Pathways for SURF1 
        Electron Transport Chain
    Type II diabetes mellitus


    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SURF1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 10)

    5/21 Interacting proteins for SURF1 (Q155263 ENSP000003610424) via UniProtKB, MINT, STRING, and/or I2D (see all 21)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    COX10Q128873, ENSP000002616434I2D: score=2 STRING: ENSP00000261643
    COX11Q9Y6N13, ENSP000002993354I2D: score=2 STRING: ENSP00000299335
    COX15Q7KZN93, ENSP000000161714I2D: score=1 STRING: ENSP00000016171
    CYC1P085743, ENSP000003171594I2D: score=1 STRING: ENSP00000317159
    MT-CO1P003953, ENSP000003544994I2D: score=1 STRING: ENSP00000354499
    About this table

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006119oxidative phosphorylation IMP--
    GO:0006754ATP biosynthetic process IMP--
    GO:0008535respiratory chain complex IV assembly TAS9843204
    GO:0009060aerobic respiration TAS9843204
    GO:0055114oxidation-reduction process TAS9843204


    SURF1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    SURF1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SURF1
    4 Novoseek chemical compound relationships for SURF1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    lactate 22 3 20436434 (1), 19780766 (1)
    pyruvate 16.7 1 11279059 (1)
    bicarbonate 2.46 1 11804207 (1)
    oxygen 0 2 15269007 (2)

    Search CenterWatch for drugs/clinical trials and news about SURF1 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for SURF1 gene: 
    NM_003172.2  

    Unigene Cluster for SURF1:

    Surfeit 1
    Hs.512464  [show with all ESTs]
    Unigene Representative Sequence: BM923055
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000371974(uc004cdh.1) ENST00000495952 ENST00000437995 ENST00000463965


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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SURF1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SURF1

    Additional cDNA sequence: 

    AK291122.1 BC028314.1 BC071658.1 Z35093.1 

    9 DOTS entries:

    DT.97815595  DT.415300  DT.415301  DT.91752981  DT.102823899  DT.100773920  DT.100702133  DT.121151751 
    DT.100023995 

    24/1147 AceView cDNA sequences (see all 1147):

    BM784110 AA777354 BF514617 BM993930 BE855585 BF445633 BM755901 BU902343 
    CR602588 BM548801 CA437981 BM742778 BQ876428 BE145526 CR613298 CK431188 
    AA933680 AL138333 CR604442 BM563209 BM745977 BM756508 BU624851 CF128306 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for SURF1    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10a · 10b
    SP1:                          -                                                         
    SP2:                                                                                    
    SP3:                                                  -     -                           
    SP4:                                                                                    


    ECgene alternative splicing isoforms for SURF1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SURF1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TGCTACTGGT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See SURF1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SURF1

    SOURCE GeneReport for Unigene cluster: Hs.512464
        SABiosciences Custom PCR Arrays for SURF1
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    In Situ
    Assay Products:
     

     
    Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for SURF1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for SURF1 gene from 8/25 species (see all 25)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Surf11 , 5 surfeit gene 11, 5 79.69(n)1
    79.8(a)1
      2 (19.10 cM)5
    209301  NM_013677.21  NP_038705.21 
     269133835 
    chicken
    (Gallus gallus)
    Aves SURF11 surfeit 1 69.93(n)
    69.8(a)
      417157  NM_001012653.2  NP_001012671.1 
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.237332 Xenopus laevis transcribed sequence with weak similarity more 73.44(n)    AW640345.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.145682 Transcribed sequence with moderate similarity to protein more 75.07(n)    BM571196.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Surf11 , 3 cytochrome biogenesis heme transporter3
    Surfeit 11
    46(a)3
    53.36(n)1
    47.67(a)1
      65D53
    444981  NM_080019.31  NP_524758.11 
    worm
    (Caenorhabditis elegans)
    Secernentea sft-11 , 3 Protein SFT-11 45(a)3
    50.22(n)1
    46.29(a)1
      III(3158521-3163467)3
    1754151  NM_065256.21  NP_497657.11 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons SURF11 Surfeit locus 1 cytochrome c oxidase biogenesis protein 46.81(n)
    35.74(a)
      821310  NM_112672.2  NP_566592.1 
    rice
    (Oryza sativa)
    Liliopsida Os03g02007001 hypothetical protein 45.61(n)
    33.46(a)
      4331968  NM_001055826.1  NP_001049291.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/142 NCBI SNPs in SURF1 are shown (see all 142    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289334021,2
    Cpathogenic106187357(-) CAGGGG/AGTGCT 2 /E /G mis1 ese31Minor allele frequency- A:0.00NA 2
    rs1128732131,2
    C,--105719809(+) TCTACC/TTACTA 1 -- int12Minor allele frequency- T:0.05CSA WA 120
    rs769122781,2
    F,--105720258(+) GTTCTC/TCAGAG 1 -- int11Minor allele frequency- T:0.04WA 118
    rs287099391,2
    --105720383(+) TAAACT/GATGCA 1 -- int11Minor allele frequency- G:0.17NA 6
    rs1126418291,2
    F--105721048(+) CTCTGC/TAGGGC 1 -- int12Minor allele frequency- T:0.40CSA 5
    rs735508061,2
    C,--105721055(+) GGGCAT/GATTCT 1 -- int12Minor allele frequency- G:0.03WA 120
    rs1128878391,2
    C,F,--105721579(+) TACGCA/GCACCA 1 -- int12Minor allele frequency- G:0.00CSA EU 802
    rs771886821,2
    C,--105721702(+) GCAGAA/CCTGCC 2 R S mis10--------
    rs284368271,2
    C,F,H,--105722027(+) ACTAAG/AATGCA 1 -- int17Minor allele frequency- A:0.01NS NA 972
    rs1130816781,2
    C,--105722441(+) AATTCA/GGTAAT 1 -- int10--------

    HapMap Linkage Disequilibrium report for SURF1 (136218610 - 136223552 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for SURF1: --
    Human Gene Mutation Database (HGMD): SURF1

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SURF1
    DNA2.0 Custom Variant and Variant Library Synthesis for SURF1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    SURF1 for disorders           About GeneDecksing

    OMIM gene information: 185620   
    OMIM disorders: 256000  
    UniProtKB/Swiss-Prot: SURF1_HUMAN, Q15526
  • Defects in SURF1 are a cause of Leigh syndrome (LS) [MIM:256000]. LS is a severe neurological disorder
  • characterized by bilaterally symmetrical necrotic lesions in subcortical brain regions that is commonly associated
    with systemic cytochrome c oxidase (COX) deficiency

    17 diseases for SURF1:    About MalaCards
    leigh syndrome, due to cox deficiency    leigh-like syndrome    mitochondrial encephalomyopathy    lactic acidosis
    cardioencephalomyopathy    encephalomyopathy    esophageal squamous cell carcinoma    squamous cell carcinoma
    leukodystrophy    peripheral neuropathy    neurodegenerative disease    hypertrichosis
    leigh disease    neuropathy    crohn's disease    esophagitis
    carcinoma

    2 diseases from the University of Copenhagen DISEASES database for SURF1:
    Leigh disease     Hypertrichosis

    8 Novoseek disease relationships for SURF1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    leigh syndrome 98 83 11509016 (3), 11955926 (3), 11279059 (3), 16120373 (3) (see all 57)
    cytochrome c oxidase deficiency 97.5 30 11955926 (3), 11279059 (3), 12026244 (2), 16225813 (2) (see all 22)
    mitochondrial diseases 79 1 9837813 (1)
    leukodystrophy 68 6 11409433 (3), 11044474 (1), 19805825 (1)
    neurodegenerative diseases 50.1 3 9843204 (1), 10556303 (1), 19780766 (1)
    acidosis lactic 47.3 1 11409433 (1)
    encephalopathy 46 3 11579424 (1), 15214016 (1), 10805329 (1)
    neurological disorders 11.5 2 11782424 (1), 15269007 (1)

    Genatlas disease: SURF1
    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

    Genetic Association Database (GAD): SURF1
    Human Genome Epidemiology (HuGE) Navigator: SURF1 (7 documents)

    Export disorders for SURF1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for SURF1 gene, integrated from 9 sources (see all 114):
    (articles sorted by number of sources associating them with SURF1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome C oxidase deficiency. (PubMed id 11317352)1, 2, 4, 9 Pequignot M.O.... Marsac C. (2001)
    2. Missense mutations in SURF1 associated with deficient cytochrome c oxidase assembly in Leigh syndrome patients. (PubMed id 10746561)1, 2, 4, 9 Poyau A.... Godinot C. (2000)
    3. SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome. (PubMed id 9843204)1, 2, 3, 9 Zhu Z.... Shoubridge E.A. (1998)
    4. The Surf-1 and Surf-2 genes and their essential bidirectional promoter elements are conserved between mouse and human. (PubMed id 7702754)1, 2, 9 Lennard A.... Fried M. (1994)
    5. Two novel mutations of SURF1 in Leigh syndrome with cytochrome c oxidase deficiency. (PubMed id 10647889)1, 2, 9 Teraoka M....Seino Y. (1999)
    6. 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. (PubMed id 8499913)1, 3, 9 Yon J....Fried M. (1993)
    7. SURF1-associated leigh syndrome: A case series and novel mutations. (PubMed id 22488715)1, 2 Lee I.C....Wong L.J. (2012)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    9. [A new missense mutation of 574C>T in the SURF1 gene--biochemical and molecular genetic study in seven children with Leigh syndrome] (PubMed id 12515039)1, 9 Capkova M....Zeman J. (2002)
    10. SURF1 missense mutations promote a mild Leigh phenoty pe. (PubMed id 19780766)1, 9 Piekutowska-Abramczuk D....Pronicka E. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 6834 HGNC: 11474 AceView: SURF1andSURF4 Ensembl:ENSG00000148290 euGenes: HUgn6834
    ECgene: SURF1 H-InvDB: SURF1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SURF1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SURF1

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SURF1 gene:
    Search GeneIP for patents involving SURF1

    GeneCards and IP:
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