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

SURF1 Gene

protein-coding   GIFtS: 61
GCID: GC09M136218

Surfeit 1

Alzheimer's & Parkinson's Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Surfeit 11 2
Surfeit Locus Protein 11 2
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 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 disease, and leigh syndrome, due to cox deficiency, and among its related super-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: SURF1_HUMAN, Q15526
Function: Probably involved in the biogenesis of the COX complex

Gene Wiki entry for SURF1 Gene


(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000009.11  NC_018920.2  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-,NW_003315925 177,905-182,579     

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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

Explore proteomics data for SURF1 at MOPED 

Post-translational modifications:

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

  • SURF1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SURF1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001267716.1  NP_003163.1  

    ENSEMBL proteins: 
     ENSP00000361042  

    Human Recombinant Protein Products for SURF1: 
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    Novus Biologicals SURF1 Proteins
    Novus Biologicals SURF1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    ProSpec Recombinant Protein for SURF1
    Cloud-Clone Corp. Proteins for SURF1 

    Gene Ontology (GO): 4 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:0016020membrane ----
    GO:0016021integral to membrane IEA--

    SURF1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    MITOAF: Mitochondrial respiratory chain complex assembly factors

    1 InterPro protein domain:
     IPR002994 Surf1/Shy1

    Graphical View of Domain Structure for InterPro Entry Q15526

    ProtoNet protein and cluster: Q15526

    1 Blocks protein domain: IPB002994 Surf1 protein

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


    SURF1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004129cytochrome-c oxidase activity IEA--
    GO:0005515protein binding IPI--
         
    SURF1 for ontologies           About GeneDecksing


    Phenotypes:
         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

    Animal Models:
         MGI mouse knock-outs for SURF1: Surf1tm2Zev Surf1tm2.1Zev Surf1tm1Zev

       inGenious Targeting Laboratory - Custom generated mouse model solutions for SURF1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for SURF1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SURF1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SURF1 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SURF1


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for SURF1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    Electron Transport Chain0.75
    2Type II diabetes mellitus
    Type II diabetes mellitus0.35


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


    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)

    5/22 Interacting proteins for SURF1 (Q155261, 3 ENSP000003610424) via UniProtKB, MINT, STRING, and/or I2D (see all 22)
    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, Ligands according to IUPHAR, 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 inferred 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 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, 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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for SURF1 gene (2 alternative transcripts): 
    NM_001280787.1  NM_003172.3  

    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


    miRNA
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SURF1

    Additional mRNA 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):

    BM834214 BQ879401 BM712210 BQ888671 BU073333 AA283159 AI914365 NM_033161 
    AA455630 AL602782 BM550885 BU684679 AW664522 CB241442 F02042 CA307652 
    BM475861 BI838008 AL553291 BM543194 AI494324 H66724 BF116139 BM756428 

    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 <intensity>2/3
    CGAP TAG: TGCTACTGGT
    SURF1 Expression
    About this image


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

    SOURCE GeneReport for Unigene cluster: Hs.512464
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    In Situ
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    (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 10/18 species (see all 18)    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 
    lizard
    (Anolis carolinensis)
    Reptilia SURF16
    Uncharacterized protein
    22(a)
    1 ↔ 1
    GL344658.1(123-13147)
    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 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SHY1(YGR112W)4 Mitochondrial inner membrane protein required for assembly more   --   7(717358-718527) 853009  NP_011627.1 
    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, 4UniProtKB, 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

    10/263 SNPs in SURF1 are shown (see all 263)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0686514
    Leigh syndrome (LS)4--see VAR_0686512 G E mis40--------
    VAR_0686524
    Leigh syndrome (LS)4--see VAR_0686522 M T mis40--------
    VAR_0686504
    Leigh syndrome (LS)4--see VAR_0686502 V G mis40--------
    VAR_0074524
    Leigh syndrome (LS)4--see VAR_0074522 I T mis40--------
    VAR_0686544
    Leigh syndrome (LS)4--see VAR_0686542 G R mis40--------
    VAR_0686534
    Leigh syndrome (LS)4--see VAR_0686532 A D mis40--------
    VAR_0686494
    Leigh syndrome (LS)4--see VAR_0686492 L P mis40--------
    VAR_0363404
    A breast cancer sample4--see VAR_0363402 N K mis40--------
    VAR_0152594
    Leigh syndrome (LS)4--see VAR_0152592 Y D mis40--------
    VAR_0152584
    Leigh syndrome (LS)4--see VAR_0152582 G R mis40--------

    HapMap Linkage Disequilibrium report for SURF1 (136218610 - 136223552 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for SURF1:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2739138CNV Deletion23290073
    nsv894076CNV Loss21882294
    dgv8325n71CNV Loss21882294
    nsv894079CNV Loss21882294
    nsv894080CNV Loss21882294
    nsv894057CNV Gain21882294


    Human Gene Mutation Database (HGMD): SURF1
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 185620   
    OMIM disorders: 256000  
    UniProtKB/Swiss-Prot: SURF1_HUMAN, Q15526
  • 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. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • 19 diseases for SURF1:    About MalaCards
    leigh disease    leigh syndrome, due to cox deficiency    leigh-like syndrome    hypertrichosis
    cardioencephalomyopathy    mitochondrial dna deletion syndromes    mitochondrial disorders    mitochondrial dna-associated leigh syndrome and narp
    leukodystrophy    mitochondrial encephalomyopathy    encephalomyopathy    lactic acidosis
    peripheral neuropathy    esophageal squamous cell carcinoma    crohn's disease    neuropathy
    esophagitis    squamous cell carcinoma    diabetes mellitus

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

    SURF1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    8 Novoseek inferred 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 116):
    (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. High prevalence of SURF1 c.845_846delCT mutation in Polish Leigh patients. (PubMed id 18583168)1, 4, 9 Piekutowska-Abramczuk D....Pronicka E. (2008)
    7. 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)
    8. Two Japanese patients with Leigh syndrome caused by novel SURF1 mutations. (PubMed id 22410471)1, 2 Tanigawa J....Osaka H. (2012)
    9. SURF1-associated leigh syndrome: A case series and novel mutations. (PubMed id 22488715)1, 2 Lee I.C....Wong L.J. (2012)
    10. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
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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:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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