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OXA1L Gene

protein-coding   GIFtS: 61
GCID: GC14P023235

Oxidase (Cytochrome C) Assembly 1-Like

  See OXA1L-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)
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Aliases
Oxidase (Cytochrome C) Assembly 1-Like1 2     OXA12
Oxidase Assembly 1-Like Protein2 3     hsa2
OXA1Hs2 3     Mitochondrial Inner Membrane Protein OXA1L2
OXA1-Like Protein2 3     Hsa3

External Ids:    HGNC: 85261   Entrez Gene: 50182   Ensembl: ENSG000001554637   OMIM: 6010665   UniProtKB: Q150703   

Export aliases for OXA1L gene to outside databases

Previous GC identifers: GC14P020608 GC14P017023 GC14P021225 GC14P022306 GC14P003353


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for OXA1L Gene:
OXA1L (oxidase (cytochrome c) assembly 1-like) is a protein-coding gene. Diseases associated with OXA1L include dysalbuminemic hyperthyroxinemia, and dental caries. GO annotations related to this gene include mitochondrial ribosome binding and protein homodimerization activity. An important paralog of this gene is COX18.

UniProtKB/Swiss-Prot: OXA1L_HUMAN, Q15070
Function: Required for the insertion of integral membrane proteins into the mitochondrial inner membrane.
Essential for the activity and assembly of cytochrome oxidase. Required for the correct biogenesis of ATP
synthase and complex I in mitochondria




(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000014.8  NC_018925.2  NT_026437.13  
Regulatory elements:
   Regulatory transcription factor binding sites in the OXA1L gene promoter:
         HFH-3   SREBP-1c   RREB-1   NF-E2 p45   SREBP-1b   FOXI1   SREBP-1a   Chx10   ZID   NF-E2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidOXA1L promoter sequence
   Search Chromatin IP Primers for OXA1L

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat OXA1L


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

Entrez Gene cytogenetic band: 14q11.2   Ensembl cytogenetic band:  14q11.2   HGNC cytogenetic band: 14q11.2

OXA1L Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
OXA1L gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14P023235:  view genomic region     (about GC identifiers)

Start:
23,235,731 bp from pter      End:
23,241,007 bp from pter
Size:
5,277 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: OXA1L_HUMAN, Q15070 (See protein sequence)
Recommended Name: Mitochondrial inner membrane protein OXA1L precursor  
Size: 435 amino acids; 48548 Da
Subunit: Monomer; predominantly monomeric at low salt concentrations. Homooligomer; predominantly homooligomeric
at high salt concentrations. Homodimer. Homotetramer. Interacts with MRPL13, MRPL20, MRPL28, MRPL48, MRPL49 and
MRPL51. Associates preferentially as a dimer with the large ribosomal subunit 39S of the mitochondrial ribosome
Sequence caution: Sequence=AAH01669.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Sequence=CAA05127.1; Type=Erroneous gene model prediction;
Secondary accessions: B4DPA2
Alternative splicing: 3 isoforms:  Q15070-1   Q15070-2   Q15070-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for OXA1L: NX_Q15070

Explore proteomics data for OXA1L at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys178
  • Modification sites at PhosphoSitePlus

  • See OXA1L Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_005006.3  
    ENSEMBL proteins: 
     ENSP00000285848   ENSP00000474623   ENSP00000389240   ENSP00000396596   ENSP00000387601  
     ENSP00000350740  

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    antibodies-online peptides for OXA1L

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR028055 Membr_insert_YidC/Oxa1_C
     IPR001708 Membrane_insert_OXA1/ALB3/YidC

    Graphical View of Domain Structure for InterPro Entry Q15070

    ProtoNet protein and cluster: Q15070

    UniProtKB/Swiss-Prot: OXA1L_HUMAN, Q15070
    Similarity: Belongs to the OXA1/ALB3/YidC family


    Find genes that share domains with OXA1L           About GenesLikeMe


    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: OXA1L_HUMAN, Q15070
    Function: Required for the insertion of integral membrane proteins into the mitochondrial inner membrane.
    Essential for the activity and assembly of cytochrome oxidase. Required for the correct biogenesis of ATP
    synthase and complex I in mitochondria

         Genatlas biochemistry entry for OXA1L:
    cytochrome c oxidase assembly 1-like

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
    GO:0042803protein homodimerization activity IDA--
    GO:0097177mitochondrial ribosome binding IDA--
         
    Find genes that share ontologies with OXA1L           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for OXA1L:
     Decreased POU5F1-GFP protein e  Synthetic lethal with Ras 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for OXA1L
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    miRNA
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    miRTarBase miRNAs that target OXA1L:
    hsa-mir-301b (MIRT036700), hsa-mir-26b-5p (MIRT029718), hsa-mir-100-5p (MIRT048480), hsa-mir-93-3p (MIRT038752), hsa-let-7b-5p (MIRT032317), hsa-mir-671-5p (MIRT039277), hsa-mir-98-5p (MIRT027618)

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    OXA1L_HUMAN, Q15070: Mitochondrion inner membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    plasma membrane3

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IDA--
    GO:0005743mitochondrial inner membrane ----
    GO:0005746mitochondrial respiratory chain NAS9247084
    GO:0016021integral component of membrane ----
    GO:0031966mitochondrial membrane IDA--

    Find genes that share ontologies with OXA1L           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for OXA1L About    
    See pathways by source

    SuperPathContained pathways About
    1Protein export
    Protein export


    Find genes that share SuperPaths with OXA1L           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways




    1 Kegg Pathway  (Kegg details for OXA1L):
        Protein export

        Pathway & Disease-focused RT2 Profiler PCR Array including OXA1L: 
              Mitochondrial Energy Metabolism in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for OXA1L

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for OXA1L (Q150702, 3 ENSP000002858484) via UniProtKB, MINT, STRING, and/or I2D (see all 126)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PHBP352323, ENSP000003004084I2D: score=2 STRING: ENSP00000300408
    AFG3L2Q9Y4W63, ENSP000002691434I2D: score=1 STRING: ENSP00000269143
    CYC1P085743, ENSP000003171594I2D: score=1 STRING: ENSP00000317159
    ICT1Q141973, ENSP000003015854I2D: score=1 STRING: ENSP00000301585
    MRPL13Q9BYD13, ENSP000003065484I2D: score=1 STRING: ENSP00000306548
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006461protein complex assembly NAS9247084
    GO:0009060aerobic respiration NAS9247084
    GO:0032780negative regulation of ATPase activity IMP17936786
    GO:0032981mitochondrial respiratory chain complex I assembly IMP17936786
    GO:0033615mitochondrial proton-transporting ATP synthase complex assembly IMP17936786

    Find genes that share ontologies with OXA1L           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for OXA1L

    Selected Novoseek inferred chemical compound relationships for OXA1L gene (see all 141)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    dansylsarcosine 86.9 24 7690351 (3), 9113346 (2), 8720306 (1), 10637410 (1) (see all 14)
    dansylamide 75.8 12 8148809 (2), 10637410 (1), 14999739 (1), 19634451 (1) (see all 7)
    warfarin 75.4 186 10754385 (7), 11933059 (6), 16615779 (5), 8968527 (4) (see all 90)
    rhsa 74.5 23 12689360 (3), 16715378 (3), 17925886 (2), 17166611 (1) (see all 9)
    phenylbutazone 71.6 36 19721270 (3), 8020130 (2), 19182419 (2), 7606814 (2) (see all 19)
    tolmetin glucuronide 71.4 8 7628303 (2), 2300531 (2)
    acetyldigitoxin 68.9 5 10202961 (3), 10489529 (1)
    methyltetrahydrophthalic anhydride 68.1 11 1789402 (2), 7600775 (1), 2083403 (1), 8037360 (1) (see all 5)
    s-warfarin 67.5 22 15571354 (3), 8651495 (3), 11393835 (3), 7802261 (3) (see all 9)
    cis-aconitic anhydride 66.9 7 8593275 (2), 9326670 (1)



    Find genes that share compounds with OXA1L           About GenesLikeMe



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for OXA1L gene: 
    NM_005015.3  

    Unigene Cluster for OXA1L:

    Oxidase (cytochrome c) assembly 1-like
    Hs.151134  [show with all ESTs]
    Unigene Representative Sequence: NM_005015
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000285848(uc001wgn.2) ENST00000483939(uc010tnc.2) ENST00000604262
    ENST00000557299 ENST00000473744 ENST00000442110 ENST00000431881 ENST00000412791
    ENST00000495424 ENST00000358043(uc001wgp.2) ENST00000556473 ENST00000481218

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    Additional mRNA sequence: 

    AK294849.1 AK298249.1 BC001669.2 BC112331.1 X80695.1 

    Selected DOTS entries (see all 30):

    DT.100886522  DT.85103348  DT.95181896  DT.100886516  DT.100886508  DT.100886530  DT.95288638  DT.100886535 
    DT.100762120  DT.95176842  DT.100886531  DT.95361749  DT.100886509  DT.100769117  DT.100886527  DT.100886528 
    DT.95295243  DT.100031574  DT.100809414  DT.100886506  DT.101971171  DT.120775521  DT.427794  DT.95261003 

    Selected AceView cDNA sequences (see all 736):

    BG677842 BQ934973 BX458430 CR620768 CR591385 BQ054403 AI582877 BM788482 
    BM773167 AW198209 AV651213 CR625703 CR623151 CA441629 AI051100 AA502301 
    BG819077 CR619987 BE887590 CR601613 BQ446585 BQ020337 Z38835 CR621151 

    GeneLoc Exon Structure


    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    OXA1L expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAACACTCTT
    OXA1L Expression
    About this image


    OXA1L expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 16) fully expand
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Thymus (Hematopoietic System)
     
     Colon (Gastrointestinal Tract)
     
     Uterus (Reproductive System)
     
     Thyroid (Endocrine System)
    OXA1L Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    OXA1L Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.151134
        Pathway & Disease-focused RT2 Profiler PCR Array including OXA1L: 
              Mitochondrial Energy Metabolism in human mouse rat

    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for OXA1L

    (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)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for OXA1L gene from Selected species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Oxa1l1 , 5 oxidase assembly 1-like1, 5 78.6(n)1
    75.35(a)1
      14 (27.76 cM)5
    690891  NM_026936.31  NP_081212.11 
     543608415 
    lizard
    (Anolis carolinensis)
    Reptilia OXA1L6
    oxidase (cytochrome c) assembly 1-like
    55(a)
    1 ↔ 1
    GL343491.1(539510-548009)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.58002 Xenopus laevis transcribed sequence with weak similarity more 70.11(n)    BI312618.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.186372 Transcribed sequence with weak similarity to protein more 74.03(n)    BQ450425.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta BcDNA:GH022203
    CG64041
    cytochrome c oxidase biogenesis protein
    transporter3
    CG64041
    40(a)3
    49.47(n)1
    39.26(a)1
      67F13
    392221  NM_168424.21  NP_729634.11 
    worm
    (Caenorhabditis elegans)
    Secernentea C01A2.31 C01A2.3 42.57(n)
    28.28(a)
      173207  NM_060955.4  NP_493356.2 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes OXA1(YER154W)4
    OXA11
    Mitochondrial inner membrane insertase, mediates the more4
    OXA11
    44.22(n)1
    35.29(a)1
      5(475020-476228)4
    8568981, 4  NP_011081.11, 4 


    ENSEMBL Gene Tree for OXA1L (if available)
    TreeFam Gene Tree for OXA1L (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for OXA1L gene
    COX182  

    Find genes that share paralogs with OXA1L           About GenesLikeMe



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for OXA1L (see all 307)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs749056071,2
    C,F--23233791(+) CCTCAG/ATTCTT 1 -- us2k12Minor allele frequency- A:0.06CSA WA 120
    rs1418261161,2
    --23233956(+) TACTAC/TTGATT 1 -- us2k10--------
    rs19575031,2
    C,F,A,H--23233971(-) CCTGTA/CACTTG 1 -- us2k119Minor allele frequency- C:0.04NS EA NA WA CSA 1342
    rs740364841,2
    C,F--23234050(+) CACCAA/GAGTAG 1 -- us2k15Minor allele frequency- G:0.15WA CSA NA 243
    rs1878006311,2
    --23234114(+) AATTAC/TTTCTA 1 -- us2k10--------
    rs1118925471,2
    C--23234148(+) TCTCT-/AAAAAA 1 -- us2k11Minor allele frequency- A:0.50CSA 2
    rs1504064211,2
    --23234346(+) TTGTAA/TCTTTC 1 -- us2k10--------
    rs1451532381,2
    C--23234396(+) TGAGAA/GACTTT 1 -- us2k10--------
    rs1133687501,2
    C--23234539(+) TCATCT/-TTTTT 1 -- us2k11Minor allele frequency- -:0.50CSA 2
    rs1918954671,2
    --23234553(+) TTTTTG/TTTGAG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for OXA1L (23235731 - 23241007 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for OXA1L:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv901489CNV Gain21882294
    dgv127n21CNV Gain19592680

    Site Specific Mutation Identification with PCR Assays
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    (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.)
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    OMIM gene information: 601066    OMIM disorders: --

    4 diseases for OXA1L:    
    About MalaCards
    dysalbuminemic hyperthyroxinemia    dental caries    hyperthyroxinemia    protein-losing enteropathy


    Find genes that share disorders with OXA1L           About GenesLikeMe

    Selected Novoseek inferred disease relationships for OXA1L gene (see all 88)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hyperthyroxinemia 58 4 10430791 (1), 9188698 (1), 8702585 (1), 10728776 (1)
    shock hemorrhagic 34.2 2 19813636 (1), 1485975 (1)
    uremia 32.6 5 18642767 (2), 12485604 (1), 16671336 (1), 11044246 (1)
    hypoalbuminemia 26.7 1 20487252 (1)
    red cell aplasia 21.1 1 18482185 (1)
    protein-losing enteropathies 19.7 3 10688102 (1), 9481767 (1), 11274540 (1)
    hypersensitivity immediate 14.8 1 12162883 (1)
    liver fibrosis 9.87 7 16642209 (2), 11819791 (1), 19554654 (1), 14695775 (1)
    hemolysis 9.38 7 9253828 (2), 9203959 (1), 19880176 (1), 17295656 (1) (see all 6)
    allergic reaction 7.64 2 10929054 (1), 15270839 (1)

    Genetic Association Database (GAD): OXA1L
    Human Genome Epidemiology (HuGE) Navigator: OXA1L (3 documents)

    Export disorders for OXA1L 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)
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    PubMed articles for OXA1L gene, integrated from 10 sources (see all 936):
    (articles sorted by number of sources associating them with OXA1L)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Properties of the C-terminal tail of human mitochondrial inner membrane protein Oxa1L and its interactions with mammalian mitochondrial ribosomes. (PubMed id 20601428)1, 2 Haque M.E....Spremulli L.L. (J. Biol. Chem. 2010)
    2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    3. Identification of protein-protein and protein-ribosome interacting regions of the C-terminal tail of human mitochondrial inner membrane protein Oxa1L. (PubMed id 20739282)1, 2 Haque M.E.... Fecko C.J. (J. Biol. Chem. 2010)
    4. An approach based on a genome-wide association study reveals candidate loci for narcolepsy. (PubMed id 20677014)1, 4 Shimada M....Tokunaga K. (Hum. Genet. 2010)
    5. Topogenesis of mammalian Oxa1, a component of the mitochondrial inner membrane protein export machinery. (PubMed id 19349278)1, 3 Sato T. and Mihara K. (J. Biol. Chem. 2009)
    6. Knockdown of human Oxa1l impairs the biogenesis of F1Fo-ATP synthase and NADH:ubiquinone oxidoreductase. (PubMed id 17936786)1, 2 Stiburek L....Zeman J. (J. Mol. Biol. 2007)
    7. 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. (Genome Res. 2004)
    8. Sequence and structure of the human OXA1L gene and its upstream elements. (PubMed id 9247084)1, 2 Roetig A.... Munnich A. (Biochim. Biophys. Acta 1997)
    9. The OXA1L gene that controls cytochrome oxidase assembly maps to the 14q11.2 region of the human genome. (PubMed id 8586451)1, 3 Molina-Gomes D....Dujardin G. (Genomics 1995)
    10. Cloning of a human gene involved in cytochrome oxidase assembly by functional complementation of an oxa1- mutation in Saccharomyces cerevisiae. (PubMed id 7991568)1, 2 Bonnefoy N....Dujardin G. (Proc. Natl. Acad. Sci. U.S.A. 1994)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 5018 HGNC: 8526 AceView: OXA1L Ensembl:ENSG00000155463 euGenes: HUgn5018
    ECgene: OXA1L Kegg: 5018 H-InvDB: OXA1L

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for OXA1L Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for OXA1L gene:
    Search GeneIP for patents involving OXA1L

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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