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MALSU1 Gene

protein-coding   GIFtS: 43
GCID: GC07P023338

Mitochondrial Assembly Of Ribosomal Large Subunit 1

(Previous name: chromosome 7 open reading frame 30)
(Previous symbol: C7orf30)
Microbiology & Infectious Diseases Congress
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(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
Mitochondrial Assembly Of Ribosomal Large Subunit 11 2
C7orf301 2 3 5
Chromosome 7 Open Reading Frame 301
Mitochondrial Assembly Of Ribosomal Large Subunit Protein 12
mtRsfA2

External Ids:    HGNC: 217211   Entrez Gene: 1154162   Ensembl: ENSG000001569287   OMIM: 6146245   UniProtKB: Q96EH33   

Export aliases for MALSU1 gene to outside databases


(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 MALSU1 Gene:
MALSU1 (mitochondrial assembly of ribosomal large subunit 1) is a protein-coding gene. Diseases associated with MALSU1 include pneumonia, and tuberculosis.

UniProtKB/Swiss-Prot: MASU1_HUMAN, Q96EH3
Function: May function as a ribosomal silencing factor. Addition to isolated mitochondrial ribosomal subunits
partially inhibits translation. Interacts with mitochondrial ribosomal protein L14 (MRPL14), probably blocking
formation of intersubunit bridge B8, preventing association of the 28S and 39S ribosomal subunits and the
formation of functional ribosomes, thus repressing translation. May also participate in the assembly and/or
regulation of the stability of the large subunit of the mitochondrial ribosome

Gene Wiki entry for MALSU1 (C7orf30) 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000007.14  NC_018918.2  NT_007819.18  
Regulatory elements:
   Search for regulatory transcription factor binding sites for MALSU1
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): MALSU1 promoter sequence
   Search Chromatin IP Primers for MALSU1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MALSU1


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

Entrez Gene cytogenetic band: 7p15.3   Ensembl cytogenetic band:  7p15.3   HGNC cytogenetic band: 7p15.3

MALSU1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MALSU1 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P023338:  view genomic region     (about GC identifiers)

Start:
23,338,358 bp from pter      End:
23,351,348 bp from pter
Size:
12,991 bases      Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 23,390,818-23,401,057     

(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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: MASU1_HUMAN, Q96EH3 (See protein sequence)
Recommended Name: Mitochondrial assembly of ribosomal large subunit protein 1  
Size: 234 amino acids; 26170 Da
Subunit: Associates with the mitochondrial ribosome large subunit (39S). Interacts with MRPL12 and MRPL14
Secondary accessions: A4D154

Explore the universe of human proteins at neXtProt for MALSU1: NX_Q96EH3

Explore proteomics data for MALSU1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys192
  • Modification sites at PhosphoSitePlus

  • See MALSU1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_612455.1  
    ENSEMBL proteins: 
     ENSP00000419370  

    MALSU1 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for MALSU1
    OriGene Protein Over-expression Lysate for MALSU1
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    GenScript Custom Purified and Recombinant Proteins Services for MALSU1
    Novus Biologicals MALSU1 Protein
    Novus Biologicals MALSU1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

    MALSU1 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for MALSU1
    Novus Biologicals MALSU1 Antibodies
    Search for Antibodies for MALSU1 at Abcam
    Browse Antibodies at Cloud-Clone Corp.
    Search ThermoFisher Antibodies for MALSU1
    Search LSBio for Antibodies for MALSU1

    MALSU1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for MALSU1
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for MALSU1
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.


    (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:
     IPR004394 Iojap/RsfS
     IPR025656 Oligomer_dom

    Graphical View of Domain Structure for InterPro Entry Q96EH3

    ProtoNet protein and cluster: Q96EH3

    1 Blocks protein domain: IPB004394 Iojap-related protein

    UniProtKB/Swiss-Prot: MASU1_HUMAN, Q96EH3
    Similarity: Belongs to the Iojap/RsfS family


    MALSU1 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MASU1_HUMAN, Q96EH3
    Function: May function as a ribosomal silencing factor. Addition to isolated mitochondrial ribosomal subunits
    partially inhibits translation. Interacts with mitochondrial ribosomal protein L14 (MRPL14), probably blocking
    formation of intersubunit bridge B8, preventing association of the 28S and 39S ribosomal subunits and the
    formation of functional ribosomes, thus repressing translation. May also participate in the assembly and/or
    regulation of the stability of the large subunit of the mitochondrial ribosome

    Phenotypes:
         1 MGI phenotypic allele for Malsu1 (no phenotypes)


    MALSU1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MALSU1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for MALSU1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MALSU1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MALSU1

    miRNA
    Products:
        
    miRTarBase miRNAs that target MALSU1:
    hsa-mir-124-3p (MIRT022482), hsa-mir-24-3p (MIRT030390), hsa-mir-16-5p (MIRT031558)

    Block miRNA regulation of human, mouse, rat MALSU1 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate MALSU1
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for MALSU1
    Predesigned siRNA for gene silencing in human, mouse, rat MALSU1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for MALSU1

    Clone
    Products:
         
    OriGene clones in human, mouse for MALSU1 (see all 5)
    OriGene ORF clones in mouse, rat for MALSU1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript Custom all cDNA clones Services for MALSU1
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MALSU1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MALSU1

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for MALSU1
    Browse ESI BIO Cell Lines and PureStem Progenitors for MALSU1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MALSU1


    (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
    MASU1_HUMAN, Q96EH3: Mitochondrion matrix. Note=Colocalizes with MRPL12 (PubMed:22238375) and/or MRPL14
    (PubMed:22829778)

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----
    GO:0005739mitochondrion IDA16548050
    GO:0005759mitochondrial matrix IEA--

    MALSU1 for ontologies           About GeneDecksing


    (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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for MALSU1
    Interactions:

        Search GeneGlobe Interaction Network for MALSU1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 9)

    Selected Interacting proteins for MALSU1 (Q96EH32, 3 ENSP000004193704) via UniProtKB, MINT, STRING, and/or I2D (see all 252)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ICT1Q141972, 3, ENSP000003015854MINT-8079030 I2D: score=1 STRING: ENSP00000301585
    CHMP2BQ9UQN33, ENSP000002637804I2D: score=1 STRING: ENSP00000263780
    UBE2V2Q158193I2D: score=1 
    AARS2Q5JTZ92MINT-8079030
    AASSQ9UDR52MINT-8079030
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0042273ribosomal large subunit biogenesis IMP--
    GO:0070130negative regulation of mitochondrial translation IDA--

    MALSU1 for ontologies           About GeneDecksing



    (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 MALSU1 (MASU1)



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for MALSU1 gene: 
    NM_138446.1  

    Unigene Cluster for MALSU1:

    Mitochondrial assembly of ribosomal large subunit 1
    Hs.87385  [show with all ESTs]
    Unigene Representative Sequence: AK127742
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000479974 ENST00000466681(uc003swd.1) ENST00000287543 ENST00000481564
    ENST00000476623
    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat MALSU1 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate MALSU1
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for MALSU1
    Predesigned siRNA for gene silencing in human, mouse, rat MALSU1
    Clone
    Products:
         
    OriGene clones in human, mouse for MALSU1 (see all 5)
    OriGene ORF clones in mouse, rat for MALSU1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript Custom all cDNA clones Services for MALSU1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MALSU1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MALSU1
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for MALSU1
    OriGene qSTAR qPCR primer pairs in human, mouse for MALSU1
    Search Pre-validated RT2 qPCR Primer Assays in human, mouse, rat MALSU1
      QuantiTect SYBR Green Assays in human, mouse, rat MALSU1
      QuantiFast Probe-based Assays in human, mouse, rat MALSU1

    Additional mRNA sequence: 

    AK123133.1 AK127742.1 AK316559.1 AL832885.1 BC012331.1 BC065766.1 

    8 DOTS entries:

    DT.213652  DT.315725  DT.97801630  DT.87045997  DT.95263215  DT.121110869  DT.121110923  DT.91688689 

    Selected AceView cDNA sequences (see all 162):

    CB163804 BE535213 AA954553 AI862724 AI138376 CK300040 CK822796 CD678759 
    CB158055 BQ186964 BM723418 F05404 F28282 BQ688660 BM931441 AI088843 
    BG546311 BQ016969 AA633313 AA452818 AA804881 BX483410 AA252692 CB112740 

    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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    MALSU1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTGATTCATT
    MALSU1 Expression
    About this image

    MALSU1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MALSU1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.87385
        Custom PCR Arrays for MALSU1
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for MALSU1
    OriGene qSTAR qPCR primer pairs in human, mouse for MALSU1
    Search Pre-validated RT2 qPCR Primer Assays in human, mouse, rat MALSU1
    QuantiTect SYBR Green Assays in human, mouse, rat MALSU1
    QuantiFast Probe-based Assays in human, mouse, rat MALSU1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MALSU1

    (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.

    Orthologs for MALSU1 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Malsu11 , 5 RIKEN cDNA 2410003K15 gene5
    mitochondrial assembly of ribosomal large subunit 11
    80.12(n)1
    73.68(a)1
      6 (23.82 cM)5
    755931  NM_029353.11  NP_083629.11 
     490737955 
    chicken
    (Gallus gallus)
    Aves C2H7ORF301 chromosome 2 open reading frame, human C7orf30 68.81(n)
    69.29(a)
      420616  XM_418715.4  XP_418715.1 
    lizard
    (Anolis carolinensis)
    Reptilia MALSU16
    mitochondrial assembly of ribosomal large subunit ...
    63(a)
    1 ↔ 1
    6(30495935-30502388)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.323542 Xenopus laevis transcribed sequences 77(n)    BJ631785.1 
    zebrafish
    (Danio rerio)
    Actinopterygii MALSU16
    mitochondrial assembly of ribosomal large subunit ...
    39(a)
    1 ↔ 1
    16(58305026-58307187) ENSDARG00000091079
    fruit fly
    (Drosophila melanogaster)
    Insecta CG91666
    312
    26(a)
    1 ↔ 1
    3L(1351116-1352853)


    ENSEMBL Gene Tree for MALSU1 (if available)
    TreeFam Gene Tree for MALSU1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MALSU1 gene

    MALSU1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for MALSU1
    PGOHUM00000239402


    (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 MALSU1 (see all 324)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1855425331,2
    --23337010(+) GAGGCC/TGAGGC 1 -- us2k10--------
    rs1163171131,2
    C,F--23337348(+) GCACCG/ACTTGA 1 -- us2k11Minor allele frequency- A:0.21WA 118
    rs1996571,2
    C,F,H--23337507(-) AACTAG/CAATCA 1 -- us2k115Minor allele frequency- C:0.34NS EA NA WA CSA 792
    rs1144786091,2
    F--23337548(+) GTAGAA/GACAGA 1 -- us2k11Minor allele frequency- G:0.01WA 118
    rs1996561,2
    C,F,H--23337615(-) gtccaA/Caccct 1 -- us2k123Minor allele frequency- C:0.34NS EA NA WA CSA 2350
    rs1498235501,2
    C--23337648(+) AAGAC-/AAGAAGCT 1 -- us2k10--------
    rs1452602641,2
    C--23337776(+) ATGACC/TCATTA 1 -- us2k10--------
    rs77795441,2
    C,F,H--23338022(+) TCTCTA/CTTTTT 1 -- us2k1 tfbs317Minor allele frequency- C:0.15NS EA WA CSA 2221
    rs3681516421,2
    C--23338284(+) CCCCCA/C/GCCCGT 1 -- us2k10--------
    rs1422393411,2
    --23338350(+) CTCAGA/CATTCC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for MALSU1 (23338358 - 23351348 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for MALSU1: --
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MALSU1
    DNA2.0 Custom Variant and Variant Library Synthesis for MALSU1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 614624    OMIM disorders: --

    2 diseases for MALSU1:    
    About MalaCards
    pneumonia    tuberculosis


    MALSU1 for disorders           About GeneDecksing


    Export disorders for MALSU1 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 MALSU1 gene, integrated from 10 sources (see all 17):
    (articles sorted by number of sources associating them with MALSU1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. C7orf30 specifically associates with the large subunit of the mitochondrial ribosome and is involved in translation. (PubMed id 22238375)1, 2, 3 Wanschers B.F....Huynen M.A. (Nucleic Acids Res. 2012)
    2. C7orf30 is necessary for biogenesis of the large subunit of the mitochondrial ribosome. (PubMed id 22238376)1, 2, 3 Rorbach J.... Minczuk M. (Nucleic Acids Res. 2012)
    3. Alterations of the mitochondrial proteome caused by the absence of mitochondrial DNA: A proteomic view. (PubMed id 16548050)1, 2 Chevallet M.... Rabilloud T. (Electrophoresis 2006)
    4. 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)
    5. Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)1, 2 Scherer S.W.... Tsui L.-C. (Science 2003)
    6. The conserved interaction of C7orf30 with MRPL14 promotes biogenesis of the mitochondrial large ribosomal subunit and mitochondrial translation. (PubMed id 23171548)1 Fung S....Shoubridge E.A. (Mol. Biol. Cell 2013)
    7. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)
    8. RsfA (YbeB) proteins are conserved ribosomal silencing factors. (PubMed id 22829778)2 Hauser R.... Uetz P. (PLoS Genet. 2012)
    9. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    10. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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: 115416 HGNC: 21721 AceView: C7orf30 Ensembl:ENSG00000156928 euGenes: HUgn115416
    ECgene: MALSU1 H-InvDB: MALSU1

    (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 MALSU1 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 MALSU1 gene:
    Search GeneIP for patents involving MALSU1

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