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, pack... See more...

Aliases for HNRNPL Gene

Aliases for HNRNPL Gene

  • Heterogeneous Nuclear Ribonucleoprotein L 2 3 4 5
  • HnRNP L 3 4
  • HNRPL 3 4
  • Epididymis Secretory Sperm Binding Protein 3
  • P/OKcl.14 3
  • HnRNP-L 3
  • HNRNPL 5

External Ids for HNRNPL Gene

Previous HGNC Symbols for HNRNPL Gene

  • HNRPL

Previous GeneCards Identifiers for HNRNPL Gene

  • GC19M044022
  • GC19M039327
  • GC19M035773

Summaries for HNRNPL Gene

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 Localized Pulmonary Fibrosis and Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant. Among its related pathways are Gene Expression and mRNA Splicing - Major Pathway. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and RNA binding. An important paralog of this gene is HNRNPLL.

UniProtKB/Swiss-Prot Summary for HNRNPL Gene

  • 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 (PubMed:11809897, PubMed:22570490, PubMed:24164894, PubMed:25623890, PubMed:26051023). Component of the heterogeneous nuclear ribonucleoprotein (hnRNP) complexes and associated with most nascent transcripts (PubMed:2687284). Associates, together with APEX1, to the negative calcium responsive element (nCaRE) B2 of the APEX2 promoter (PubMed:11809897).

Gene Wiki entry for HNRNPL Gene

Additional gene information for HNRNPL Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HNRNPL Gene

Genomics for HNRNPL Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for HNRNPL Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HNRNPL on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for HNRNPL

Top Transcription factor binding sites by QIAGEN in the HNRNPL gene promoter:
  • E2F
  • E2F-1
  • E2F-2
  • p300
  • Pax-5
  • Sp1

Genomic Locations for HNRNPL Gene

Genomic Locations for HNRNPL Gene
chr19:38,836,370-38,852,347
(GRCh38/hg38)
Size:
15,978 bases
Orientation:
Minus strand
chr19:39,327,028-39,342,987
(GRCh37/hg19)
Size:
15,960 bases
Orientation:
Minus strand

Genomic View for HNRNPL Gene

Genes around HNRNPL on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HNRNPL Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HNRNPL Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HNRNPL Gene

Proteins for HNRNPL Gene

  • Protein details for HNRNPL Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P14866-HNRPL_HUMAN
    Recommended name:
    Heterogeneous nuclear ribonucleoprotein L
    Protein Accession:
    P14866
    Secondary Accessions:
    • A6ND69
    • A6NIT8
    • Q9H3P3

    Protein attributes for HNRNPL Gene

    Size:
    589 amino acids
    Molecular mass:
    64133 Da
    Quaternary structure:
    • Identified in a IGF2BP1-dependent mRNP granule complex containing untranslated mRNAs (PubMed:17289661). Interacts with HNRNPLL (PubMed:18669861). Interacts with APEX1; the interaction is DNA-dependent (PubMed:11809897). Component of a complex with SETD2 (PubMed:19332550). Interacts with ELAVL1 (PubMed:18161049).
    SequenceCaution:
    • Sequence=CAA34261.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
    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).

    Three dimensional structures from OCA and Proteopedia for HNRNPL Gene

    Alternative splice isoforms for HNRNPL Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HNRNPL Gene

Post-translational modifications for HNRNPL Gene

  • Several isoelectric forms of the L protein are probably the results of post-translational modifications.
  • 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 depolarization.
  • Ubiquitination at Lys59, Lys229, Lys97, Lys248, Lys264, Lys277, Lys302, Lys455, Lys493, Lys533, and Lys568
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for HNRNPL Gene

Domains & Families for HNRNPL Gene

Gene Families for HNRNPL Gene

Protein Domains for HNRNPL Gene

InterPro:
Blocks:
  • RNA-binding region RNP-1 (RNA recognition motif)
ProtoNet:

Suggested Antigen Peptide Sequences for HNRNPL Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ75895, highly similar to Homo sapiens heterogeneous nuclear ribonucleoprotein L (HNRPL), transcript variant 2, mRNA (A6NIT8_HUMAN)
  • cDNA FLJ55127, highly similar to Heterogeneous nuclear ribonucleoprotein L (B4DPK8_HUMAN)
  • cDNA FLJ60000, highly similar to Heterogeneous nuclear ribonucleoprotein L (B4DVF8_HUMAN)
  • Heterogeneous nuclear ribonucleoprotein L (HNRPL_HUMAN)
  • HNRNPL protein (Q6NTA2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P14866

UniProtKB/Swiss-Prot:

HNRPL_HUMAN :
  • 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).
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).
genes like me logo Genes that share domains with HNRNPL: view

Function for HNRNPL Gene

Molecular function for HNRNPL Gene

UniProtKB/Swiss-Prot 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 (PubMed:11809897, PubMed:22570490, PubMed:24164894, PubMed:25623890, PubMed:26051023). Component of the heterogeneous nuclear ribonucleoprotein (hnRNP) complexes and associated with most nascent transcripts (PubMed:2687284). Associates, together with APEX1, to the negative calcium responsive element (nCaRE) B2 of the APEX2 promoter (PubMed:11809897).

Phenotypes From GWAS Catalog for HNRNPL Gene

Gene Ontology (GO) - Molecular Function for HNRNPL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000976 transcription regulatory region sequence-specific DNA binding IDA 11809897
GO:0003676 nucleic acid binding IEA --
GO:0003723 RNA binding IEA,HDA 22658674
GO:0003729 mRNA binding IBA 21873635
GO:0003730 mRNA 3'-UTR binding IEA --
genes like me logo Genes that share ontologies with HNRNPL: view
genes like me logo Genes that share phenotypes with HNRNPL: view

Animal Models for HNRNPL Gene

MGI Knock Outs for HNRNPL:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HNRNPL

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for HNRNPL Gene

Localization for HNRNPL Gene

Subcellular locations from UniProtKB/Swiss-Prot for HNRNPL Gene

Nucleus, nucleoplasm. Cytoplasm. Note=Localized in cytoplasmic mRNP granules containing untranslated mRNAs. These granules are not identical with P bodies or stress granules. {ECO:0000269 PubMed:17289661}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HNRNPL gene
Compartment Confidence
nucleus 5
extracellular 4
cytosol 4
plasma membrane 2
cytoskeleton 2
mitochondrion 2
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for HNRNPL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 15798186
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IEA --
GO:0016020 membrane HDA 19946888
genes like me logo Genes that share ontologies with HNRNPL: view

Pathways & Interactions for HNRNPL Gene

genes like me logo Genes that share pathways with HNRNPL: view

Pathways by source for HNRNPL Gene

SIGNOR curated interactions for HNRNPL Gene

Is activated by:

Gene Ontology (GO) - Biological Process for HNRNPL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000381 regulation of alternative mRNA splicing, via spliceosome IMP 25623890
GO:0000398 mRNA splicing, via spliceosome TAS --
GO:0006396 RNA processing TAS 2687284
GO:0006397 mRNA processing IEA --
GO:0006417 regulation of translation IBA 21873635
genes like me logo Genes that share ontologies with HNRNPL: view

Drugs & Compounds for HNRNPL Gene

(1) Drugs for HNRNPL Gene - From: DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Copper Approved, Investigational Pharma Target 249

(1) Additional Compounds for HNRNPL Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with HNRNPL: view

Transcripts for HNRNPL Gene

mRNA/cDNA for HNRNPL Gene

2 REFSEQ mRNAs :
17 NCBI additional mRNA sequence :
15 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HNRNPL

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for HNRNPL Gene

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: -
SP6:
SP7:

Relevant External Links for HNRNPL Gene

GeneLoc Exon Structure for
HNRNPL

Expression for HNRNPL Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for HNRNPL Gene

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for HNRNPL Gene



Protein tissue co-expression partners for HNRNPL Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for HNRNPL

SOURCE GeneReport for Unigene cluster for HNRNPL Gene:

Hs.644906

Evidence on tissue expression from TISSUES for HNRNPL Gene

  • Nervous system(4.8)
  • Skin(4.7)
  • Liver(4.7)
  • Kidney(3.6)
  • Muscle(3.6)
  • Intestine(3.5)
  • Heart(3.5)
  • Lymph node(3.4)
  • Spleen(3.4)
  • Lung(3.4)
  • Bone marrow(3.4)
  • Stomach(3.3)
  • Pancreas(3.3)
  • Thyroid gland(3.2)
  • Adrenal gland(3.2)
  • Gall bladder(2.8)
  • Blood(2.7)
  • Eye(2.3)
genes like me logo Genes that share expression patterns with HNRNPL: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for HNRNPL Gene

Orthologs for HNRNPL Gene

This gene was present in the common ancestor of animals.

Orthologs for HNRNPL Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia HNRNPL 30 31
  • 99.66 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia HNRNPL 30 31
  • 94.84 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia HNRNPL 30 31
  • 94.51 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Hnrnpl 30
  • 91.87 (n)
Mouse
(Mus musculus)
Mammalia Hnrnpl 30 17 31
  • 91.07 (n)
OneToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 86 (a)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 78 (a)
OneToMany
Chicken
(Gallus gallus)
Aves -- 31
  • 98 (a)
ManyToMany
-- 31
  • 89 (a)
ManyToMany
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 92 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia hnrnpl 30
  • 77.71 (n)
Str.5918 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.1324 30
Zebrafish
(Danio rerio)
Actinopterygii hnrnpl2 31
  • 77 (a)
ManyToMany
hnrpl 30 31
  • 73.6 (n)
ManyToMany
CABZ01100304.1 31
  • 52 (a)
ManyToMany
zgc55429 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8682 30
Fruit Fly
(Drosophila melanogaster)
Insecta sm 30 31
  • 54.13 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012054 30
  • 54 (n)
Worm
(Caenorhabditis elegans)
Secernentea C44B7.2 30 31
  • 48.82 (n)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 51 (a)
OneToMany
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.2266 30
Species where no ortholog for HNRNPL was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for HNRNPL Gene

ENSEMBL:
Gene Tree for HNRNPL (if available)
TreeFam:
Gene Tree for HNRNPL (if available)
Aminode:
Evolutionary constrained regions (ECRs) for HNRNPL: view image

Paralogs for HNRNPL Gene

Paralogs for HNRNPL Gene

(4) SIMAP similar genes for HNRNPL Gene using alignment to 6 proteins:

  • HNRPL_HUMAN
  • B4DVF8_HUMAN
  • M0QXS5_HUMAN
  • M0QYL7_HUMAN
  • M0R1W6_HUMAN
  • Q6NTA2_HUMAN

Pseudogenes.org Pseudogenes for HNRNPL Gene

genes like me logo Genes that share paralogs with HNRNPL: view

Variants for HNRNPL Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HNRNPL Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
711727 Benign: not provided 38,845,640(-) C/G INTRON_VARIANT
725094 Benign: not provided 38,845,928(-) C/T SYNONYMOUS_VARIANT
787605 Benign: not provided 38,849,924(-) G/T SYNONYMOUS_VARIANT,INTRON_VARIANT
790886 Benign: not provided 38,849,885(-) G/T SYNONYMOUS_VARIANT,INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for HNRNPL Gene

Structural Variations from Database of Genomic Variants (DGV) for HNRNPL Gene

Variant ID Type Subtype PubMed ID
esv29388 CNV loss 19812545
nsv1160616 CNV duplication 26073780

Variation tolerance for HNRNPL Gene

Residual Variation Intolerance Score: 6.19% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.46; 10.06% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HNRNPL Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
HNRNPL

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HNRNPL Gene

Disorders for HNRNPL Gene

MalaCards: The human disease database

(2) MalaCards diseases for HNRNPL Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with HNRNPL: view

No data available for UniProtKB/Swiss-Prot and Genatlas for HNRNPL Gene

Publications for HNRNPL Gene

  1. Heterogeneous nuclear ribonucleoprotein L Is a subunit of human KMT3a/Set2 complex required for H3 Lys-36 trimethylation activity in vivo. (PMID: 19332550) Yuan W … Reinberg D (The Journal of biological chemistry 2009) 3 4 23
  2. Human AP-endonuclease 1 and hnRNP-L interact with a nCaRE-like repressor element in the AP-endonuclease 1 promoter. (PMID: 11809897) Kuninger DT … Mitra S (Nucleic acids research 2002) 3 4 23
  3. A novel heterogeneous nuclear RNP protein with a unique distribution on nascent transcripts. (PMID: 2687284) Piñol-Roma S … Dreyfuss G (The Journal of cell biology 1989) 2 3 4
  4. hnRNP L inhibits CD44 V10 exon splicing through interacting with its upstream intron. (PMID: 25623890) Loh TJ … Shen H (Biochimica et biophysica acta 2015) 3 4
  5. The Signature of the Five-Stranded vRRM Fold Defined by Functional, Structural and Computational Analysis of the hnRNP L Protein. (PMID: 26051023) Blatter M … Allain FH (Journal of molecular biology 2015) 3 4

Products for HNRNPL Gene