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RPL13A Gene

protein-coding   GIFtS: 64
GCID: GC19P049991

Ribosomal Protein L13a

(Previous name: tissue specific transplantation antigen 1)
(Previous symbol: TSTA1)
Microbiology & Infectious 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)
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Aliases
Ribosomal Protein L13a1 2
TSTA11 2
Tissue Specific Transplantation Antigen 11 2
23 KDa Highly Basic Protein2 3
60S Ribosomal Protein L13a2
L13A2

External Ids:    HGNC: 103041   Entrez Gene: 235212   Ensembl: ENSG000001425417   UniProtKB: P404293   

Export aliases for RPL13A gene to outside databases

Previous GC identifers: GC19P050649 GC19P050359 GC19P054666 GC19P054682


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for RPL13A Gene:
Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit.
Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This
gene encodes a member of the L13P family of ribosomal proteins that is a component of the 60S subunit. The
encoded protein also plays a role in the repression of inflammatory genes as a component of the
IFN-gamma-activated inhibitor of translation (GAIT) complex. This gene is co-transcribed with the small nucleolar
RNA genes U32, U33, U34, and U35, which are located in the second, fourth, fifth, and sixth introns,
respectively. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of
this gene dispersed throughout the genome. Alternatively spliced transcript variants encoding multiple isoforms
have been observed for this gene. (provided by RefSeq, Jul 2012)

GeneCards Summary for RPL13A Gene:
RPL13A (ribosomal protein L13a) is a protein-coding gene. Diseases associated with RPL13A include treacher collins syndrome, and gingivitis. GO annotations related to this gene include structural constituent of ribosome.

UniProtKB/Swiss-Prot: RL13A_HUMAN, P40429
Function: Associated with ribosomes but is not required for canonical ribosome function and has extra-ribosomal
functions. Component of the GAIT (gamma interferon-activated inhibitor of translation) complex which mediates
interferon-gamma-induced transcript-selective translation inhibition in inflammation processes. Upon
interferon-gamma activation and subsequent phosphorylation dissociates from the ribosome and assembles into the
GAIT complex which binds to stem loop-containing GAIT elements in the 3'-UTR of diverse inflammatory mRNAs (such
as ceruplasmin) and suppresses their translation. In the GAIT complex interacts with m7G cap-bound eIF4G at or
near the eIF3-binding site and blocks the recruitment of the 43S ribosomal complex. Involved in methylation of
rRNA

Gene Wiki entry for RPL13A 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_000019.10  NC_018930.2  NT_011109.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the RPL13A gene promoter:
         AhR   TBP   STAT5A   AP-4   Tal-1beta   FOXL1   Arnt   c-Ets-1   E47   STAT3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRPL13A promoter sequence
   Search Chromatin IP Primers for RPL13A

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RPL13A


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

Entrez Gene cytogenetic band: 19q13.3   Ensembl cytogenetic band:  19q13.33   HGNC cytogenetic band: 19q13.3

RPL13A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RPL13A gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P049991:  view genomic region     (about GC identifiers)

Start:
49,990,811 bp from pter      End:
49,995,565 bp from pter
Size:
4,755 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, 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: RL13A_HUMAN, P40429 (See protein sequence)
Recommended Name: 60S ribosomal protein L13a  
Size: 203 amino acids; 23577 Da
Subunit: Component of the 60S ribosome. Component of the GAIT complex. Interacts with EIF4G1
1 PDB 3D structure from and Proteopedia for RPL13A:
3J3B (3D)    
Secondary accessions: A8K505

Explore the universe of human proteins at neXtProt for RPL13A: NX_P40429

Explore proteomics data for RPL13A at MOPED

Post-translational modifications: 

  • Phosphorylation at Ser-77 upon interferon-gamma treatment in monocytes involves a DAPK1-DAPK3 kinase cascade and
    is causing release from the ribosome, association with the GAIT complex and subsequent involvement in
    transcript-selective translation inhibition1
  • Citrullinated by PADI4 (By similarity)1
  • Ubiquitination2 at Lys25, Lys51, Lys53, Lys103, Lys125, Lys134, Lys148, Lys159, Lys191
  • Modification sites at PhosphoSitePlus

  • See RPL13A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001257420.1  NP_036555.1  

    ENSEMBL proteins: 
     ENSP00000375730   ENSP00000470768   ENSP00000470037  
    Reactome Protein details: P40429

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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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    HGNC Gene Families:
    RPL: L ribosomal proteins

    4 InterPro protein domains:
     IPR023563 Ribosomal_L13_CS
     IPR005822 Ribosomal_L13
     IPR005755 Ribosomal_L13_euk/arc
     IPR023564 Ribosomal_L13_dom

    Graphical View of Domain Structure for InterPro Entry P40429

    ProtoNet protein and cluster: P40429

    1 Blocks protein domain: IPB005822 Ribosomal protein L13

    UniProtKB/Swiss-Prot: RL13A_HUMAN, P40429
    Similarity: Belongs to the ribosomal protein L13P family


    RPL13A 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: RL13A_HUMAN, P40429
    Function: Associated with ribosomes but is not required for canonical ribosome function and has extra-ribosomal
    functions. Component of the GAIT (gamma interferon-activated inhibitor of translation) complex which mediates
    interferon-gamma-induced transcript-selective translation inhibition in inflammation processes. Upon
    interferon-gamma activation and subsequent phosphorylation dissociates from the ribosome and assembles into the
    GAIT complex which binds to stem loop-containing GAIT elements in the 3'-UTR of diverse inflammatory mRNAs (such
    as ceruplasmin) and suppresses their translation. In the GAIT complex interacts with m7G cap-bound eIF4G at or
    near the eIF3-binding site and blocks the recruitment of the 43S ribosomal complex. Involved in methylation of
    rRNA

         Genatlas biochemistry entry for RPL13A:
    60S ribosomal protein L13-2

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003735structural constituent of ribosome NAS12962325
    GO:0044822poly(A) RNA binding IDA--
         
    RPL13A for ontologies           About GeneDecksing


    Phenotypes:
         5 GenomeRNAi human phenotypes for RPL13A:
     Decreased G3BP1 protein expres  Decreased TP53 protein express  Decreased viability of wild-ty  Increased S DNA content 
     S arrest 

         8 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Rpl13a):
     behavior/neurological  cellular  hematopoietic system  homeostasis/metabolism  immune system 
     mortality/aging  no phenotypic analysis  respiratory system 

    RPL13A for phenotypes           About GeneDecksing

    Animal Models:
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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
    RL13A_HUMAN, P40429: Cytoplasm (Probable)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol5
    nucleus2
    mitochondrion1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--
    GO:0005840ribosome ----
    GO:0015934large ribosomal subunit TAS10580157
    GO:0022625cytosolic large ribosomal subunit IDA12962325
    GO:0030529ribonucleoprotein complex IDA15479637

    RPL13A 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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    SuperPaths for RPL13A About   (see all 6)                                                                                              See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1CFTR translational fidelity class I mutations
    CFTR translational fidelity class I mutations 0.60
    Ribosome0.54
    Cytoplasmic Ribosomal Proteins0.60
    2Influenza Viral RNA Transcription and Replication
    Viral mRNA Translation0.94
    Eukaryotic Translation Initiation0.89
    Peptide chain elongation0.94
    Cap-dependent Translation Initiation0.89
    Nonsense Mediated Decay Independent of the Exon Junction Complex0.94
    Nonsense Mediated Decay Enhanced by the Exon Junction Complex0.89
    Formation of a pool of free 40S subunits0.94
    Nonsense-Mediated Decay0.89
    3Gene Expression
    Gene Expression0.40
    4Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
    Metabolism of proteins0.30
    5Translational Control
    Translational Control

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for RPL13A
        Translational Control

    1 GeneGo (Thomson Reuters) Pathway for RPL13A
        CFTR translational fidelity (class I mutations)

    1 BioSystems Pathway for RPL13A
        Cytoplasmic Ribosomal Proteins


    Selected Reactome Pathways for RPL13A (see all 9)
        Peptide chain elongation
    Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC)
    Viral mRNA Translation
    GTP hydrolysis and joining of the 60S ribosomal subunit
    SRP-dependent cotranslational protein targeting to membrane


    1 Kegg Pathway  (Kegg details for RPL13A):
        Ribosome


    RPL13A for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for RPL13A
    Interactions:

        Search GeneGlobe Interaction Network for RPL13A

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

    Selected Interacting proteins for RPL13A (P404292, 3 ENSP000003757304) via UniProtKB, MINT, STRING, and/or I2D (see all 555)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4AP628053I2D: score=2 
    HIST1H4BP628053I2D: score=2 
    HIST1H4CP628053I2D: score=2 
    HIST1H4DP628053I2D: score=2 
    HIST1H4EP628053I2D: score=2 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 16):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000184nuclear-transcribed mRNA catabolic process, nonsense-mediated decay TAS--
    GO:0006412translation TAS--
    GO:0006413translational initiation TAS--
    GO:0006414translational elongation TAS--
    GO:0006415translational termination TAS--

    RPL13A 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 RPL13A (RL13A)

    3 DrugBank Compounds for RPL13A    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    ANISOMYCIN-- --target--10592235
    Alpha-Hydroxy-Beta-Phenyl-Propionic Acid-- --target--10592235
    PUROMYCIN-- --target--10592235



    (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 RPL13A gene (2 alternative transcripts): 
    NM_001270491.1  NM_012423.3  

    Unigene Cluster for RPL13A:

    Ribosomal protein L13a
    Hs.523185  [show with all ESTs]
    Unigene Representative Sequence: BG121812
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000391857(uc002pny.3 uc002pnz.3) ENST00000472481 ENST00000484279
    ENST00000488946 ENST00000479992 ENST00000486930 ENST00000477613 ENST00000467825
    ENST00000476268 ENST00000474171 ENST00000468655 ENST00000476300
    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Additional mRNA sequence: 

    AB082924.1 AK130605.1 AK222747.1 AK291120.1 AK297859.1 BC000514.2 BC000847.1 BC001675.2 
    BC001836.2 BC004900.2 BC013230.1 BC032107.2 BC062537.1 BC065236.1 BC070223.1 BC071929.1 
    BC105605.1 NR_073024.1 X56932.1 

    Selected DOTS entries (see all 146):

    DT.87003128  DT.75124041  DT.87011808  DT.100764199  DT.100856870  DT.100852855  DT.121499556  DT.100853775 
    DT.95231396  DT.95361948  DT.100866872  DT.95221684  DT.100723072  DT.97869220  DT.102841617  DT.100723049 
    DT.95167200  DT.95221934  DT.100859565  DT.91783221  DT.75143508  DT.121499536  DT.100043405  DT.100864593 

    Selected AceView cDNA sequences (see all 55):

    BC001836 CR607799 BC070223 NM_012423 CR596607 CR600846 CR618336 CR619845 
    AK056837 CR606179 CR607352 BC062537 NR_000019 CR622347 CR616905 CR622930 
    CR592554 CR607854 CR607407 CR622131 CR612270 NR_000021 CR615101 CR625138 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for RPL13A (see all 14)    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b · 9c ^ 10a · 10b · 10c · 10d
    SP1:                    -                 -           -           -                                                         
    SP2:                          -           -           -           -                                                         
    SP3:              -     -     -           -           -           -                                                         
    SP4:              -     -     -           -           -           -                                                         
    SP5:                    -     -           -           -           -                                                         


    ECgene alternative splicing isoforms for RPL13A

    (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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    RPL13A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGGCTACGGA
    RPL13A Expression
    About this image

    RPL13A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    RPL13A Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.523185
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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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for RPL13A gene from Selected species (see all 25)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rpl13a1 , 5 ribosomal protein L13A1, 5 88.01(n)1
    95.57(a)1
      7 (29.14 cM)5
    221211  NM_009438.51  NP_033464.21 
     451255585 
    lizard
    (Anolis carolinensis)
    Reptilia RPL13A6
    ribosomal protein L13a
    91(a)
    1 ↔ 1
    GL343355.1(503203-513757)
    African clawed frog
    (Xenopus laevis)
    Amphibia rpl13a-prov2 ribosomal protein L13a 81.34(n)    BC043976.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Gstp12 Danio rerio mRNA similar to ribosomal protein L13a more 77.11(n)    BC047855.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG14753
    RpL13A1
    protein biosynthesis structural
    constituent of more3
    Ribosomal protein L13A1
    58(a)3
    63.65(n)1
    57.79(a)1
      406871  NM_141303.31  NP_649560.11 
    worm
    (Caenorhabditis elegans)
    Secernentea rpl-161 , 3 L13P family ribosomal protein3
    rpl-161
    54(a)3
    59.15(n)1
    54.36(a)1
      III(3574411-3575570)3
    1754551  NM_065320.71  NP_497721.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes RPL16A6
    RPL16B6
    N-terminally acetylated protein component of the l...
    N-terminally acetylated protein component of the l...
    57(a)
    55(a)
    many → 1
    many → 1
    IX(98527-99416) YIL133C
    XIV(493956-495001) YNL069C
    soybean
    (Glycine max)
    eudicotyledons Gma.20532 Transcribed sequence with moderate similarity to protein more 76.09(n)  
    rice
    (Oryza sativa)
    Liliopsida AK063806.12   -- 75.64(n)    AK063806.1 


    ENSEMBL Gene Tree for RPL13A (if available)
    TreeFam Gene Tree for RPL13A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for RPL13A gene
    1 SIMAP similar gene for RPL13A using alignment to 5 protein entries:     RL13A_HUMAN (see all proteins):
    RPL13a

    RPL13A for paralogs           About GeneDecksing


    Selected Pseudogenes.org Pseudogenes for RPL13A (see all 32)
    PGOHUM00000238477 PGOHUM00000238624 PGOHUM00000242600 PGOHUM00000239296 PGOHUM00000239392


    (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 RPL13A (see all 85)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1506401941,2
    --49990037(+) ACTGAC/GGCCCA 3 -- us2k10--------
    rs18792661,2
    C,F,A,H--49990060(-) CTGGAG/CAAACC 3 -- us2k124Minor allele frequency- C:0.33EA NA NS WA CSA EU 2017
    rs1398176931,2
    --49990139(+) TCACGC/TCGGTA 3 -- us2k10--------
    rs722707621,2
    C--49990251(+) ATATA-/ATTATAT 3 -- us2k10--------
    rs558995001,2
    C,F--49990270(+) TATAT-/AT/   
      ATATGT
    TAGCC
    5 -- us2k1 cds11NS 150
    rs1839908411,2
    --49990350(+) GGAAGG/TGGAGG 3 -- us2k10--------
    rs1887211591,2
    --49990407(+) CAGCGA/GGACCC 3 -- us2k10--------
    rs735806591,2
    C--49990410(+) CGAGAC/TCCTGT 3 -- us2k10--------
    rs766876111,2
    C,F--49990465(+) CTGGCG/AGGTCT 3 -- us2k12Minor allele frequency- A:0.04NA NS 256
    rs735806611,2
    C--49990523(+) GAAGGG/AGTAAT 3 -- us2k11Minor allele frequency- A:0.50WA 2

    HapMap Linkage Disequilibrium report for RPL13A (49990811 - 49995565 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for RPL13A:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv833862CNV Loss17160897
    nsv912262CNV Loss21882294
    nsv912264CNV Loss21882294
    nsv833863CNV Loss17160897
    nsv912261CNV Loss21882294
    nsv912265CNV Loss21882294
    nsv9739CNV Gain+Loss18304495

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing RPL13A
    DNA2.0 Custom Variant and Variant Library Synthesis for RPL13A

    (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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    5 diseases for RPL13A:    About MalaCards
    treacher collins syndrome    gingivitis    influenza    hypoxia
    breast cancer


    RPL13A for disorders           About GeneDecksing

    Genetic Association Database (GAD): RPL13A
    Human Genome Epidemiology (HuGE) Navigator: RPL13A (3 documents)

    Export disorders for RPL13A 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 RPL13A gene, integrated from 10 sources (see all 76):
    (articles sorted by number of sources associating them with RPL13A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Gene organization and sequence of the region containing the ribosomal protein genes RPL13A and RPS11 in the human genome and conserved features in the mouse genome. (PubMed id 10580157)1, 2, 9 Higa S.... Kenmochi N. (Gene 1999)
    2. Human ribosomal protein L13a is dispensable for canonical ribosome function but indispensable for efficient rRNA methylation. (PubMed id 17921318)1, 2, 9 Chaudhuri S....Mazumder B. (RNA 2007)
    3. DAPK-ZIPK-L13a axis constitutes a negative-feedback module regulating inflammatory gene expression. (PubMed id 18995835)1, 2, 9 Mukhopadhyay R.... Fox P.L. (Mol. Cell 2008)
    4. L13a blocks 48S assembly: role of a general initiation factor in mRNA-specific translational control. (PubMed id 17218275)1, 2, 9 Kapasi P.... Mazumder B. (Mol. Cell 2007)
    5. Regulated release of L13a from the 60S ribosomal subunit as a mechanism of transcript-specific translational control. (PubMed id 14567916)1, 2, 9 Mazumder B....Fox P.L. (Cell 2003)
    6. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    7. Noncanonical function of glutamyl-prolyl-tRNA synthetase: gene- specific silencing of translation. (PubMed id 15479637)1, 2 Sampath P.... Fox P.L. (Cell 2004)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    9. 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)
    10. Characterization and analysis of posttranslational modifications of the human large cytoplasmic ribosomal subunit proteins by mass spectrometry and Edman sequencing. (PubMed id 12962325)1, 2 Odintsova T.I....Karpova G.G. (J. Protein Chem. 2003)

    (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: 23521 HGNC: 10304 AceView: RPL13A Ensembl:ENSG00000142541 euGenes: HUgn23521
    ECgene: RPL13A Kegg: 23521 H-InvDB: RPL13A

    (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 RPL13A 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 RPL13A gene:
    Search GeneIP for patents involving RPL13A

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



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