Aliases for HNRNPL Gene
Aliases for HNRNPL Gene
External Ids for HNRNPL Gene
- HGNC: 5045
- Entrez Gene: 3191
- Ensembl: ENSG00000104824
- OMIM: 603083
- UniProtKB: P14866
Previous HGNC Symbols for HNRNPL Gene
- HNRPL
Previous GeneCards Identifiers for HNRNPL Gene
- GC19M044022
- GC19M039327
- GC19M035773
Summaries 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 Alzheimer Disease 19, Late Onset. Among its related pathways are mRNA Splicing - Major Pathway and Gene Expression. GO annotations related to this gene include nucleic acid binding and RNA binding. An important paralog of this gene is HNRNPLL.
UniProtKB/Swiss-Prot 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).
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HNRNPL Gene
Genomics for HNRNPL Gene
Regulatory Elements for HNRNPL Gene
Enhancers for HNRNPL Gene
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around HNRNPL on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the HNRNPL gene promoter:
Regulatory Element Products
Genomic Location for HNRNPL Gene
- Chromosome:
- 19
- Start:
- 38,836,378 bp from pter
- End:
- 38,852,347 bp from pter
- Size:
- 15,970 bases
- Orientation:
- Minus strand
Genomic View for HNRNPL Gene
Genes around HNRNPL on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 19q13.2 by Ensembl
- 19q13.2 by Entrez Gene
- 19q13.2 by HGNC
HNRNPL Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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).
- 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).
- SequenceCaution:
-
- Sequence=CAA34261.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
Protein Expression for HNRNPL Gene
Post-translational modifications for HNRNPL Gene
- 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.
- Several isoelectric forms of the L protein are probably the results of post-translational modifications.
- Ubiquitination at isoforms=59, isoforms=97, isoforms=2229, posLast=248248, posLast=264264, posLast=277277, posLast=302302, isoforms=2455, posLast=493493, posLast=533533, and isoforms=2568
- Modification sites at PhosphoSitePlus
Other Protein References for HNRNPL Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- EMD Millipore Complete listing of Mono and Polychlonal Antibodies for HNRNPL
-
Custom Antibody ServicesOriGene Antibodies for HNRNPL
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- antibodies-online Antibodies for HNRNPL: See all 69
- GeneTex HNRNPL antibody for HNRNPL
-
Santa Cruz Biotechnology (SCBT) Antibodies for HNRNPL
Protein Products
-
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- antibodies-online Proteins for HNRNPL: See all 6
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- Search GeneTex for Proteins for HNRNPL
Assay Products
- antibodies-online Kits for HNRNPL: See all 12
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:
- 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
P14866UniProtKB/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).
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).
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003676 | nucleic acid binding | IEA | -- |
| GO:0003723 | RNA binding | IDA,IEA | 22658674 |
| GO:0003730 | mRNA 3-UTR binding | IEA | -- |
| GO:0005515 | protein binding | IPI | 11809897 |
| GO:0044212 | transcription regulatory region DNA binding | IDA | 11809897 |
Phenotypes for HNRNPL Gene
- MGI mutant phenotypes for HNRNPL:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for HNRNPL:
Animal Models for HNRNPL Gene
- MGI Knock Outs for HNRNPL:
-
- Hnrnpl tm1.2Tmo
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
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ViGene Biosciences lentiviral particle packaged cDNA for HNRNPL gene
-
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CRISPR Products
-
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-
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miRNA for HNRNPL Gene
- miRTarBase miRNAs that target HNRNPL
-
- hsa-mir-193b-3p (MIRT016285)
- hsa-mir-183-5p (MIRT025002)
- hsa-mir-877-3p (MIRT036902)
- hsa-mir-615-3p (MIRT039633)
- hsa-mir-324-5p (MIRT043110)
- hsa-mir-328-3p (MIRT043796)
- hsa-mir-106b-5p (MIRT044366)
- hsa-mir-186-5p (MIRT045182)
- hsa-mir-23b-3p (MIRT046364)
- hsa-mir-16-5p (MIRT051122)
- hsa-let-7b-5p (MIRT051924)
- hsa-mir-4719 (MIRT562175)
- hsa-mir-6721-5p (MIRT562176)
- hsa-mir-4802-3p (MIRT562177)
- hsa-mir-942-3p (MIRT562178)
- hsa-mir-587 (MIRT567280)
- hsa-mir-3180-5p (MIRT567281)
- hsa-mir-6720-5p (MIRT567282)
- hsa-mir-6512-3p (MIRT567283)
- hsa-mir-6854-3p (MIRT567284)
- hsa-mir-885-5p (MIRT567285)
- hsa-mir-4738-5p (MIRT567286)
- hsa-mir-6877-3p (MIRT567287)
- hsa-mir-6819-3p (MIRT567288)
- hsa-mir-7109-3p (MIRT567289)
miRNA Products
- Search ViGene Biosciences for HNRNPL
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for HNRNPL
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-
ViGene Biosciences ready-to-package AAV shRNAs for HNRNPL gene
Cell Line Products
-
ViGene Biosciences adenoviral particle packaged cDNA for HNRNPL gene
-
ViGene Biosciences lentiviral particle packaged cDNA for HNRNPL gene
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Flow Cytometry 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}.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| nucleus | 5 |
| cytosol | 4 |
| mitochondrion | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IDA,IEA | 15798186 |
| GO:0005654 | nucleoplasm | TAS | -- |
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005829 | cytosol | IEA | -- |
| GO:0016020 | membrane | IDA | 19946888 |
Pathways & Interactions for HNRNPL Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | mRNA Splicing - Major Pathway |
.79
|
.41
|
| 2 | Gene Expression |
.48
|
|
Pathways by source for HNRNPL Gene
1 BioSystems pathway for HNRNPL Gene
4 Reactome pathways for HNRNPL Gene
Interacting Proteins for HNRNPL Gene
Selected Interacting proteins:
P14866-HNRPL_HUMAN
ENSP00000221419
for HNRNPL Gene via
MINT
STRING
IID
| 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:0007623 | circadian rhythm | IEA | -- |
Transcripts for HNRNPL Gene
mRNA/cDNA for HNRNPL Gene
- (6) REFSEQ mRNAs :
- (9) Additional mRNA sequences :
- (417) Selected AceView cDNA sequences:
- (14) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for HNRNPL Gene
CRISPR Products
-
OriGene CRISPR knockouts for HNRNPL
-
Santa Cruz Biotechnology (SCBT) CRISPR for HNRNPL
- GenScript: Design CRISPR guide RNA sequences for HNRNPL
miRNA Products
- Search ViGene Biosciences for HNRNPL
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for HNRNPL
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-
ViGene Biosciences ready-to-package AAV shRNAs for HNRNPL gene
Flow Cytometry Products
| 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: |
Expression for HNRNPL Gene
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for HNRNPL Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of HNRNPL Gene:
HNRNPLSOURCE GeneReport for Unigene cluster for HNRNPL Gene:
Hs.644906Evidence on tissue expression from TISSUES for HNRNPL Gene
- Nervous system(4.7)
- Liver(4.6)
- Skin(4.6)
- Intestine(3.2)
- Lung(3.2)
- Kidney(3.1)
- Muscle(3.1)
- Heart(3)
- Adrenal gland(2.8)
- Bone marrow(2.8)
- Gall bladder(2.8)
- Lymph node(2.8)
- Pancreas(2.8)
- Spleen(2.8)
- Stomach(2.8)
- Thyroid gland(2.8)
- Blood(2)
Primer Products
-
OriGene qPCR primer pairs for HNRNPL
-
OriGene qPCR primer pairs and template standards for HNRNPL
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | HNRNPL 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | HNRNPL 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | HNRNPL 34 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Hnrnpl 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Hnrnpl 34 16 35 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 35 |
|
OneToMany | |
| oppossum (Monodelphis domestica) |
Mammalia | -- 35 |
|
OneToMany | |
| chicken (Gallus gallus) |
Aves | -- 35 |
|
ManyToMany | |
| -- 35 |
|
ManyToMany | |||
| lizard (Anolis carolinensis) |
Reptilia | -- 35 |
|
OneToMany | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | hnrnpl 34 |
|
||
| Str.5918 34 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.1324 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | hnrnpl2 35 |
|
ManyToMany | |
| hnrpl 34 35 |
|
||||
| CABZ01100304.1 35 |
|
ManyToMany | |||
| zgc55429 34 |
|
||||
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.8682 34 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | sm 34 35 |
|
||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP012054 34 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | C44B7.2 34 35 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 35 |
|
OneToMany | |
| sea squirt (Ciona intestinalis) |
Ascidiacea | Cin.2266 34 |
|
- Species where no ortholog for HNRNPL was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya 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)
Paralogs for HNRNPL Gene
(4) SIMAP similar genes for HNRNPL Gene using alignment to 6 proteins:
Pseudogenes.org Pseudogenes for HNRNPL Gene
Variants for HNRNPL Gene
| SNP ID | Clin | Chr 19 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs1000113012 | -- | 38,843,275(+) | GGGAG(C/T)TGTCC | intron-variant | |
| rs1000219686 | -- | 38,851,631(+) | TGGTG(A/G)CTCAC | intron-variant, upstream-variant-2KB | |
| rs1000355165 | -- | 38,851,918(+) | ACGGG(A/G)GCGGG | intron-variant, upstream-variant-2KB | |
| rs1000417755 | -- | 38,851,795(+) | GAGGG(A/G)ACAGG | intron-variant, upstream-variant-2KB | |
| rs1000523865 | -- | 38,843,775(+) | AGGCC(C/T)ATTAA | intron-variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv29388 | CNV | loss | 19812545 |
| nsv1160616 | CNV | duplication | 26073780 |
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)
Relevant External Links 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
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| alzheimer disease 19, late onset |
|
|
Search HNRNPL in MalaCards
View complete list of genes associated with diseases
Relevant External Links for HNRNPL
- Atlas of Genetics and Cytogenetics in Oncology and Haematology:
- HNRNPL
No data available for UniProtKB/Swiss-Prot and Genatlas for HNRNPL Gene
Publications for HNRNPL Gene
- 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. (J. Biol. Chem. 2009) 3 4 22 64
- Human AP-endonuclease 1 and hnRNP-L interact with a nCaRE-like repressor element in the AP-endonuclease 1 promoter. (PMID: 11809897) Kuninger D.T. … Mitra S. (Nucleic Acids Res. 2002) 3 4 22 64
- A novel heterogeneous nuclear RNP protein with a unique distribution on nascent transcripts. (PMID: 2687284) Pinol-Roma S. … Dreyfuss G. (J. Cell Biol. 1989) 2 3 4 64
- hnRNP L inhibits CD44 V10 exon splicing through interacting with its upstream intron. (PMID: 25623890) Loh T.J. … Shen H. (Biochim. Biophys. Acta 2015) 3 4 64
- 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 F.H. (J. Mol. Biol. 2015) 3 4 64
Products for HNRNPL Gene
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- Mammalian expression: PiggyBac
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- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for HNRNPL Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
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