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HNRNPL Gene

protein-coding   GIFtS: 55
GCID: GC19M039327

Heterogeneous Nuclear Ribonucleoprotein L


(Previous symbol: HNRPL)
  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
Heterogeneous Nuclear Ribonucleoprotein L1 2
HNRPL1 2 3
HnRNP L2 3
hnRNP-L2

External Ids:    HGNC: 50451   Entrez Gene: 31912   Ensembl: ENSG000001048247   OMIM: 6030835   UniProtKB: P148663   

Export aliases for HNRNPL gene to outside databases

Previous GC identifers: GC19M044022 GC19M035773


(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 HNRNPL Gene:
Heterogeneous nuclear RNAs (hnRNAs) which include mRNA precursors and mature mRNAs are associated with specific
proteins to form heterogenous ribonucleoprotein (hnRNP) complexes. Heterogeneous nuclear ribonucleoprotein L is
among the proteins that are stably associated with hnRNP complexes and along with other hnRNP proteins is likely
to play a major role in the formation, packaging, processing, and function of mRNA. Heterogeneous nuclear
ribonucleoprotein L is present in the nucleoplasm as part of the HNRP complex. HNRP proteins have also been
identified outside of the nucleoplasm. Exchange of hnRNP for mRNA-binding proteins accompanies transport of mRNA
from the nucleus to the cytoplasm. Since HNRP proteins have been shown to shuttle between the nucleus and the
cytoplasm, it is possible that they also have cytoplasmic functions. Two transcript variants encoding different
isoforms have been found for this gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for HNRNPL Gene:
HNRNPL (heterogeneous nuclear ribonucleoprotein L) is a protein-coding gene. Diseases associated with HNRNPL include sertoli cell-only syndrome, and azoospermia. GO annotations related to this gene include RNA binding and transcription regulatory region DNA binding. An important paralog of this gene is ENSG00000268083.

UniProtKB/Swiss-Prot: HNRPL_HUMAN, P14866
Function: Splicing factor binding to exonic or intronic sites and acting as either an activator or repressor of
exon inclusion. Exhibits a binding preference for CA-rich elements. Component of the heterogeneous nuclear
ribonucleoprotein (hnRNP) complexes and associated with most nascent transcripts. Associates, together with
APEX1, to the negative calcium responsive element (nCaRE) B2 of the APEX2 promoter

Gene Wiki entry for HNRNPL 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  NT_011109.17  NC_018930.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the HNRNPL gene promoter:
         E2F-1   Sp1   Pax-5   E2F   p300   E2F-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHNRNPL promoter sequence
   Search Chromatin IP Primers for HNRNPL

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


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

Entrez Gene cytogenetic band: 19q13.2   Ensembl cytogenetic band:  19q13.2   HGNC cytogenetic band: 19q13.2

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

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M039327:  view genomic region     (about GC identifiers)

Start:
39,327,028 bp from pter      End:
39,342,987 bp from pter
Size:
15,960 bases      Orientation:
minus 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: HNRPL_HUMAN, P14866 (See protein sequence)
Recommended Name: Heterogeneous nuclear ribonucleoprotein L  
Size: 589 amino acids; 64133 Da
Subunit: Identified in a IGF2BP1-dependent mRNP granule complex containing untranslated mRNAs. Interacts with
HNRNPLL. Interacts with APEX1; the interaction is DNA-dependent. Component of a complex with SETD2
Miscellaneous: Excess hnRNP L activates NMD of its own mRNA by promoting the inclusion of a 'poison exon'
containing a premature stop codon and leading to nonsense-mediated decay. It also cross-regulates inclusion of an
analogous 'poison exon' in the hnRNP L-like pre-mRNA (PubMed:19124611)
Sequence caution: Sequence=CAA34261.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
2 PDB 3D structures from and Proteopedia for HNRNPL:
3R27 (3D)        3TO8 (3D)    
Secondary accessions: A6ND69 A6NIT8 Q9H3P3
Alternative splicing: 2 isoforms:  P14866-1   P14866-2   

Explore the universe of human proteins at neXtProt for HNRNPL: NX_P14866

Explore proteomics data for HNRNPL at MOPED

Post-translational modifications: 

  • Several isoelectric forms of the L protein are probably the results of post-translational modifications1
  • Phosphorylation at Ser-544 by CaMK4 enhances interaction with a CaMK4-responsive RNA element (CaRRE1), and
    prevents inclusion of the stress axis-regulated exon (STREX) of the KCNMA1 potassium channel transcripts upon
    membrane depolarization1
  • Ubiquitination2 at Lys59, Lys97, Lys229, Lys248, Lys264, Lys277, Lys302, Lys455, Lys493, Lys533,
                                 Lys568
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins (2 alternative transcripts): 
    NP_001005335.1  NP_001524.2  

    ENSEMBL proteins: 
     ENSP00000221419   ENSP00000469349   ENSP00000373401   ENSP00000470231   ENSP00000472150  
     ENSP00000469913  
    Reactome Protein details: P14866

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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:
    RBM: RNA binding motif (RRM) containing

    3 InterPro protein domains:
     IPR006536 HnRNP-L_PTB
     IPR012677 Nucleotide-bd_a/b_plait
     IPR000504 RRM_dom

    Graphical View of Domain Structure for InterPro Entry P14866

    ProtoNet protein and cluster: P14866

    1 Blocks protein domain: IPB000504 RNA-binding region RNP-1 (RNA recognition motif)

    UniProtKB/Swiss-Prot: HNRPL_HUMAN, P14866
    Domain: RRM domain 2 has moderate RNA-binding affinity. RRM domains 3 and 4 may facilitate RNA looping when
    binding to two appropriately separated binding sites within the same target pre-mRNA (PubMed:23782695)
    Similarity: Contains 4 RRM (RNA recognition motif) domains


    HNRNPL 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: HNRPL_HUMAN, P14866
    Function: Splicing factor binding to exonic or intronic sites and acting as either an activator or repressor of
    exon inclusion. Exhibits a binding preference for CA-rich elements. Component of the heterogeneous nuclear
    ribonucleoprotein (hnRNP) complexes and associated with most nascent transcripts. Associates, together with
    APEX1, to the negative calcium responsive element (nCaRE) B2 of the APEX2 promoter

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding IEA--
    GO:0003676nucleic acid binding ----
    GO:0003723RNA binding TAS2687284
    GO:0005515protein binding IPI11809897
    GO:0044212transcription regulatory region DNA binding IDA11809897
         
    HNRNPL for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for HNRNPL:
     Decreased viability  Increased gamma-H2AX phosphory 

         3 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Hnrnpl):
     hematopoietic system  immune system  mortality/aging 

    HNRNPL for phenotypes           About GeneDecksing

    Animal Models:
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    Block miRNA regulation of human, mouse, rat HNRNPL using miScript Target Protectors
    3 qRT-PCR Assays for microRNAs that regulate HNRNPL:
    hsa-miR-30c-2* hsa-miR-203 hsa-miR-30c-1*
    SwitchGear 3'UTR luciferase reporter plasmidHNRNPL 3' UTR sequence
    Inhib. RNA
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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
    HNRPL_HUMAN, P14866: Nucleus, nucleoplasm. Cytoplasm. Note=Localized in cytoplasmic mRNP granules containing
    untranslated mRNAs
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2
    mitochondrion1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA15798186
    GO:0005654nucleoplasm TAS--
    GO:0005737cytoplasm IEA--
    GO:0019013viral nucleocapsid ----
    GO:0030529ribonucleoprotein complex IDA17289661

    HNRNPL 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 HNRNPL About                                                                                                See pathways by source

    SuperPathContained pathways About
    1mRNA Splicing - Major Pathway
    mRNA Splicing - Major Pathway0.78
    mRNA Splicing0.78
    Processing of Capped Intron-Containing Pre-mRNA0.78
    mRNA processing0.44
    2Gene Expression
    Gene Expression0.40

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for HNRNPL
        mRNA processing

    2 Reactome Pathways for HNRNPL
        mRNA Splicing - Major Pathway
    Processing of Capped Intron-Containing Pre-mRNA



    HNRNPL for pathways           About GeneDecksing

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

        Search GeneGlobe Interaction Network for HNRNPL

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

    Selected Interacting proteins for HNRNPL (P148662, 3 ENSP000002214194) via UniProtKB, MINT, STRING, and/or I2D (see all 296)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CSE1LP550602, 3, ENSP000002629824MINT-63871 I2D: score=5 STRING: ENSP00000262982
    PJA1Q8NG272, 3, ENSP000003550144MINT-65012 I2D: score=4 STRING: ENSP00000355014
    ENSG00000206454Q018603I2D: score=2 
    ENSG00000229094Q018603I2D: score=2 
    ENSG00000230336Q018603I2D: score=2 
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000398mRNA splicing, via spliceosome TAS--
    GO:0006396RNA processing TAS2687284
    GO:0006397mRNA processing ----
    GO:0008380RNA splicing TAS--
    GO:0010467gene expression TAS--

    HNRNPL 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 HNRNPL (HNRPL)

    1 Novoseek inferred chemical compound relationship for HNRNPL gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    vegf 37.8 1 16441660 (1)



    HNRNPL for compounds           About GeneDecksing



    (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 HNRNPL gene (2 alternative transcripts): 
    NM_001005335.1  NM_001533.2  

    Unigene Cluster for HNRNPL:

    Heterogeneous nuclear ribonucleoprotein L
    Hs.644906  [show with all ESTs]
    Unigene Representative Sequence: AB044547
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000221419(uc021uuh.1) ENST00000595443 ENST00000595804 ENST00000601449
    ENST00000388749(uc002ojk.3 uc002ojl.3 uc021uui.1 uc002ojo.1)
    ENST00000595164 ENST00000597731 ENST00000600873 ENST00000601664 ENST00000598985
    ENST00000601047 ENST00000600233 ENST00000601813 ENST00000600741
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    Additional mRNA sequence: 

    AB044547.1 AK292115.1 AK298384.1 AK301062.1 AK313652.1 AY927543.1 AY927544.1 BC069184.1 
    X16135.1 

    Selected DOTS entries (see all 33):

    DT.92441002  DT.95185903  DT.100814044  DT.448398  DT.100836288  DT.100814046  DT.92441011  DT.95150508 
    DT.100814042  DT.91690394  DT.100790374  DT.121453538  DT.95150506  DT.100031144  DT.101956375  DT.100031149 
    DT.121081997  DT.121453529  DT.121453549  DT.121453552  DT.91811927  DT.448397  DT.95150500  DT.95226878 

    Selected AceView cDNA sequences (see all 417):

    BM551261 AA514835 BG740534 BI833983 BQ055025 BP345370 AA357097 BI256815 
    BU859102 AW949411 AW080402 AA308252 BI767941 CF141490 BM785551 BP368293 
    AA485382 BE783177 AA767934 AA749276 CB120749 AI280801 AA319737 AA761887 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for HNRNPL (see all 7)    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8a · 8b · 8c ^ 9a · 9b ^ 10a · 10b ^ 11
    SP1:                                                        -                                                         
    SP2:                                                                                                                  
    SP3:                                                                                                                  
    SP4:                                                                                                                  
    SP5:                                                        -                                                         


    ECgene alternative splicing isoforms for HNRNPL

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


    HNRNPL expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 21) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Testis (Reproductive System)    fully expand to see all 2 entries
             Secondary Spermatocyte Seminiferous Tubules
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
     
     Gonad
             Secondary Spermatocyte Seminiferous Tubules
    HNRNPL Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    HNRNPL Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.644906
        Custom PCR Arrays for HNRNPL
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    In Situ
    Assay Products:
     

     
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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 animals.

    Orthologs for HNRNPL gene from Selected species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hnrnpl1 , 5 heterogeneous nuclear ribonucleoprotein L1, 5 91.07(n)1
    97.95(a)1
      7 (16.93 cM)5
    153881  NM_177301.51  NP_796275.31 
     288085415 
    chicken
    (Gallus gallus)
    Aves --
    --
    Uncharacterized protein
    98(a)
    89(a)
    many ↔ many
    many ↔ many
    AADN03023841.1(21-1273)
    JH375649.1(4892-8297)
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    92(a)
    1 → many
    GL343665.1(40128-56092)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.13242 Xenopus laevis RNA-binding protein XlhnRNPL mRNA, partial more 79.19(n)    AF148690.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc554292 similar to heterogeneous nuclear ribonucleoprotein more 77.3(n)   394074  BC045336.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta sm1 smooth 54.13(n)
    48.53(a)
      37254  NM_001259500.2  NP_001246429.1 
    worm
    (Caenorhabditis elegans)
    Secernentea C44B7.21 C44B7.2 48.82(n)
    43.68(a)
      3565706  NM_063010.4  NP_495411.2 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for HNRNPL gene
    ENSG000002680832  PTBP12  PTBP32  PTBP22  HNRNPLL2  
    4 SIMAP similar genes for HNRNPL using alignment to 6 protein entries:     HNRPL_HUMAN (see all proteins):
    HNRNPLL    HNRPLL    PTBP2    PTBP1

    HNRNPL for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for HNRNPL
    PGOHUM00000258852 PGOHUM00000243056


    (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)
    About This Section

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    Selected SNPs for HNRNPL (see all 494)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs344619961,2
    C--39326546(+) AAACCT/-TTTTT 2 -- ds50011Minor allele frequency- -:0.50NA 2
    rs579930641,2
    C--39326556(+) TTTTT-/T/TT  
            
    GAGAT
    2 -- ds50011NA 2
    rs1861160491,2
    --39326560(+) TTGAGA/GTAGGG 2 -- ds50010--------
    rs72462781,2
    C,F,A--39326571(+) tctcaC/Ttgtca 2 -- ds500111Minor allele frequency- T:0.06NA WA CSA EA 372
    rs1484729781,2
    --39326628(+) AGGCTC/TAACTG 2 -- ds50010--------
    rs793321021,2
    F--39326695(+) CCTTTT/CTGTAG 2 -- ds50011Minor allele frequency- C:0.03WA 118
    rs23184591,2
    C,F,A,H--39326754(+) agtatC/Gtgccc 2 -- ds500111Minor allele frequency- G:0.46NA WA CSA EA 373
    rs1901455311,2
    --39326765(+) CACCTA/TGGCCT 2 -- ds50010--------
    rs23184601,2
    C,F,A,H--39326809(+) cactgC/Ggcctg 2 -- ds500112Minor allele frequency- G:0.46NA WA CSA EA 376
    rs1425287201,2
    --39326810(+) ACTGGA/GCCTGA 2 -- ds50010--------

    HapMap Linkage Disequilibrium report for HNRNPL (39327028 - 39342987 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for HNRNPL:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv29388CNV Loss19812545
    nsv911673CNV Loss21882294

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

    (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: 603083    OMIM disorders: --

    Selected diseases for HNRNPL (see all 22):    About MalaCards
    sertoli cell-only syndrome    azoospermia    fanconi's anemia    esophageal squamous cell carcinoma
    down syndrome    herpes simplex    osteosarcoma    tonsillitis
    esophagitis    hypoxia    squamous cell carcinoma    pancreatic cancer
    hiv-1    pancreatitis    endotheliitis    multiple myeloma
    myeloma    malaria    thyroiditis    cerebritis


    HNRNPL for disorders           About GeneDecksing


    Export disorders for HNRNPL 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 HNRNPL gene, integrated from 10 sources (see all 119):
    (articles sorted by number of sources associating them with HNRNPL)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A novel heterogeneous nuclear RNP protein with a unique distribution on nascent transcripts. (PubMed id 2687284)1, 2, 3 Pinol-Roma S.... Dreyfuss G. (J. Cell Biol. 1989)
    2. Human AP-endonuclease 1 and hnRNP-L interact with a nCaRE-like repressor element in the AP-endonuclease 1 promoter. (PubMed id 11809897)1, 2, 9 Kuninger D.T.... Mitra S. (Nucleic Acids Res. 2002)
    3. Heterogeneous nuclear ribonucleoprotein L Is a subunit of human KMT3a/Set2 complex required for H3 Lys-36 trimethylation activity in vivo. (PubMed id 19332550)1, 2, 9 Yuan W....Reinberg D. (J. Biol. Chem. 2009)
    4. Auto- and cross-regulation of the hnRNP L proteins by alternative splicing. (PubMed id 19124611)1, 2 Rossbach O....Bindereif A. (Mol. Cell. Biol. 2009)
    5. Regulation of CD45 alternative splicing by heterogeneous ribonucleoprotein, hnRNPLL. (PubMed id 18669861)1, 2 Oberdoerffer S....Rao A. (Science 2008)
    6. Molecular composition of IMP1 ribonucleoprotein granules. (PubMed id 17289661)1, 2 Joeson L.... Nielsen F.C. (Mol. Cell. Proteomics 2007)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    8. Molecular basis of T cell-mediated recognition of pancreatic cancer cells. (PubMed id 11280764)1, 2 Ito M....Itoh K. (Cancer Res. 2001)
    9. Microsequences of 145 proteins recorded in the two-dimensional gel protein database of normal human epidermal keratinocytes. (PubMed id 1286667)1, 2 Rasmussen H.H....Vandekerckhove J. (Electrophoresis 1992)
    10. Binding of hnRNP L to the pre-mRNA processing enhancer of the herpes simplex virus thymidine kinase gene enhances both polyadenylation and nucleocytoplasmic export of intronless mRNAs. (PubMed id 16024770)1, 9 Guang S....Mertz J.E. (Mol. Cell. Biol. 2005)

    (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: 3191 HGNC: 5045 AceView: HNRPL Ensembl:ENSG00000104824 euGenes: HUgn3191
    ECgene: HNRNPL H-InvDB: HNRNPL

    (According to HUGE)
    About This Section

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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)
    About This Section

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    NameDescription
    PharmGKB entry for HNRNPL Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for HNRNPL gene:
    Search GeneIP for patents involving HNRNPL

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



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