This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hn... See more...

Aliases for HNRNPDL Gene

Aliases for HNRNPDL Gene

  • Heterogeneous Nuclear Ribonucleoprotein D Like 2 3 5
  • Limb Girdle Muscular Dystrophy 1G (Autosomal Dominant) 2 3
  • Heterogeneous Nuclear Ribonucleoprotein D-Like 3 4
  • AU-Rich Element RNA-Binding Factor 3 4
  • JKT41-Binding Protein 3 4
  • Protein LaAUF1 3 4
  • HnRNP D-Like 3 4
  • HnRNP DL 3 4
  • HNRPDL 3 4
  • JKTBP 3 4
  • A+U-Rich Element RNA Binding Factor 3
  • JKTBP2 3
  • LGMDD3 3
  • LaAUF1 3
  • LGMD1G 3
  • HNRNP 3

External Ids for HNRNPDL Gene

Previous HGNC Symbols for HNRNPDL Gene

  • HNRPDL
  • LGMD1G

Previous GeneCards Identifiers for HNRNPDL Gene

  • GC04M083344

Summaries for HNRNPDL Gene

Entrez Gene Summary for HNRNPDL Gene

  • This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has two RRM domains that bind to RNAs. Three alternatively spliced transcript variants have been described for this gene. One of the variants is probably not translated because the transcript is a candidate for nonsense-mediated mRNA decay. The protein isoforms encoded by this gene are similar to its family member HNRPD. [provided by RefSeq, May 2011]

GeneCards Summary for HNRNPDL Gene

HNRNPDL (Heterogeneous Nuclear Ribonucleoprotein D Like) is a Protein Coding gene. Diseases associated with HNRNPDL include Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 and Muscular Dystrophy. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and nucleotide binding. An important paralog of this gene is HNRNPD.

UniProtKB/Swiss-Prot Summary for HNRNPDL Gene

  • Acts as a transcriptional regulator. Promotes transcription repression. Promotes transcription activation in differentiated myotubes (By similarity). Binds to double- and single-stranded DNA sequences. Binds to the transcription suppressor CATR sequence of the COX5B promoter (By similarity). Binds with high affinity to RNA molecules that contain AU-rich elements (AREs) found within the 3'-UTR of many proto-oncogenes and cytokine mRNAs. Binds both to nuclear and cytoplasmic poly(A) mRNAs. Binds to poly(G) and poly(A), but not to poly(U) or poly(C) RNA homopolymers. Binds to the 5'-ACUAGC-3' RNA consensus sequence.

Gene Wiki entry for HNRNPDL Gene

Additional gene information for HNRNPDL Gene

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

Genomics for HNRNPDL Gene

GeneHancer (GH) Regulatory Elements for HNRNPDL Gene

Promoters and enhancers for HNRNPDL 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 HNRNPDL on UCSC Golden Path with GeneCards custom track

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

Genomic Locations for HNRNPDL Gene

Genomic Locations for HNRNPDL Gene
chr4:82,422,564-82,430,408
(GRCh38/hg38)
Size:
7,845 bases
Orientation:
Minus strand
chr4:83,343,717-83,351,378
(GRCh37/hg19)
Size:
7,662 bases
Orientation:
Minus strand

Genomic View for HNRNPDL Gene

Genes around HNRNPDL on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for HNRNPDL Gene

Proteins for HNRNPDL Gene

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

    Protein Symbol:
    O14979-HNRDL_HUMAN
    Recommended name:
    Heterogeneous nuclear ribonucleoprotein D-like
    Protein Accession:
    O14979
    Secondary Accessions:
    • Q6SPF2
    • Q7KZ74
    • Q7KZ75
    • Q96IM0
    • Q96S43

    Protein attributes for HNRNPDL Gene

    Size:
    420 amino acids
    Molecular mass:
    46438 Da
    Quaternary structure:
    • Interacts with ZNF148 (By similarity). Interacts with TNPO1.
    SequenceCaution:
    • Sequence=BAA22860.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for HNRNPDL Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HNRNPDL Gene

Post-translational modifications for HNRNPDL Gene

  • Dimethylation of Arg-408 is probably of the asymmetric type.
  • Ubiquitination at Lys137, Lys149, Lys162, Lys197, Lys204, Lys234, and Lys302
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Abcam antibodies for HNRNPDL

No data available for DME Specific Peptides for HNRNPDL Gene

Domains & Families for HNRNPDL Gene

Gene Families for HNRNPDL Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for HNRNPDL Gene

Suggested Antigen Peptide Sequences for HNRNPDL Gene

GenScript: Design optimal peptide antigens:
  • Protein laAUF1 (HNRDL_HUMAN)
genes like me logo Genes that share domains with HNRNPDL: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for HNRNPDL Gene

Function for HNRNPDL Gene

Molecular function for HNRNPDL Gene

UniProtKB/Swiss-Prot Function:
Acts as a transcriptional regulator. Promotes transcription repression. Promotes transcription activation in differentiated myotubes (By similarity). Binds to double- and single-stranded DNA sequences. Binds to the transcription suppressor CATR sequence of the COX5B promoter (By similarity). Binds with high affinity to RNA molecules that contain AU-rich elements (AREs) found within the 3'-UTR of many proto-oncogenes and cytokine mRNAs. Binds both to nuclear and cytoplasmic poly(A) mRNAs. Binds to poly(G) and poly(A), but not to poly(U) or poly(C) RNA homopolymers. Binds to the 5'-ACUAGC-3' RNA consensus sequence.
UniProtKB/Swiss-Prot Induction:
Up-regulated by 12-O-tetradecanoylphorbol-13-acetate (TPA) in macrophages and retinoic acid (RA) in granulocytes (at protein level). Down-regulated by IL4/interleukin-4.

Phenotypes From GWAS Catalog for HNRNPDL Gene

Gene Ontology (GO) - Molecular Function for HNRNPDL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0003723 RNA binding IEA,IBA 21873635
GO:0005515 protein binding IPI 26420826
GO:0008143 poly(A) binding IBA 21873635
GO:0034046 poly(G) binding IBA 21873635
genes like me logo Genes that share ontologies with HNRNPDL: view
genes like me logo Genes that share phenotypes with HNRNPDL: view

Human Phenotype Ontology for HNRNPDL Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

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

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for HNRNPDL Gene

Localization for HNRNPDL Gene

Subcellular locations from UniProtKB/Swiss-Prot for HNRNPDL Gene

Nucleus. Cytoplasm. Note=Shuttles between the nucleus and the cytoplasm in a TNPO1-dependent manner. {ECO:0000269 PubMed:11705999, ECO:0000269 PubMed:12406575}.

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 HNRNPDL gene
Compartment Confidence
nucleus 5
cytosol 4
plasma membrane 2
extracellular 2
cytoskeleton 2
mitochondrion 2
endoplasmic reticulum 2
peroxisome 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for HNRNPDL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA 21873635
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:1990904 ribonucleoprotein complex IBA 21873635
genes like me logo Genes that share ontologies with HNRNPDL: view

Pathways & Interactions for HNRNPDL Gene

PathCards logo

SuperPathways for HNRNPDL Gene

No Data Available

Gene Ontology (GO) - Biological Process for HNRNPDL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0035722 interleukin-12-mediated signaling pathway TAS --
genes like me logo Genes that share ontologies with HNRNPDL: view

No data available for Pathways by source and SIGNOR curated interactions for HNRNPDL Gene

Drugs & Compounds for HNRNPDL Gene

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

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

Transcripts for HNRNPDL Gene

mRNA/cDNA for HNRNPDL Gene

3 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
10 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 HNRNPDL

Clone Products

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

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4a · 4b · 4c · 4d ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b · 7c ^ 8a · 8b ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13a · 13b · 13c
SP1: - - - - -
SP2: - - - - - -
SP3: - -
SP4: -
SP5: - - - - - - -
SP6:
SP7: -
SP8: -
SP9:

Relevant External Links for HNRNPDL Gene

GeneLoc Exon Structure for
HNRNPDL

Expression for HNRNPDL Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for HNRNPDL Gene

This gene is overexpressed in Nasal epithelium (9.0) and Fetal Brain (6.1).

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



Protein tissue co-expression partners for HNRNPDL Gene

- Elite partner

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

mRNA Expression by UniProt/SwissProt for HNRNPDL Gene:

O14979-HNRDL_HUMAN
Tissue specificity: Expressed in heart, brain, placenta, lung, liver, skeletal muscle, kidney, pancreas, spleen, thymus, prostate, testis, ovary, small intestine, colon and leukocytes. Expressed in myeloid leukemia, gastric adenocarcinoma, cervical carcinoma, hepatoma, fibrosarcoma, colon adenocarcinoma, epidermoid carcinoma, osteosarcoma and urinary bladder carcinoma cells.

Evidence on tissue expression from TISSUES for HNRNPDL Gene

  • Nervous system(5)
  • Liver(4.8)
  • Lung(4.8)
  • Skin(4.6)
  • Kidney(4)
  • Intestine(3.9)
  • Eye(3.7)
  • Spleen(3.6)
  • Pancreas(3.1)
  • Blood(2.7)
  • Stomach(2.6)
  • Heart(2.5)
  • Lymph node(2.3)
  • Bone(2.2)
  • Bone marrow(2.2)
  • Muscle(2.2)
  • Adrenal gland(2.1)
  • Gall bladder(2.1)
  • Thyroid gland(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for HNRNPDL Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • eye
  • head
Thorax:
  • clavicle
  • scapula
Pelvis:
  • pelvis
Limb:
  • arm
  • digit
  • finger
  • foot
  • hand
  • humerus
  • lower limb
  • shoulder
  • toe
  • upper limb
genes like me logo Genes that share expression patterns with HNRNPDL: view

No data available for mRNA differential expression in normal tissues for HNRNPDL Gene

Orthologs for HNRNPDL Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for HNRNPDL Gene

Organism Taxonomy Gene Similarity Type Details
platypus
(Ornithorhynchus anatinus)
Mammalia HNRNPDL 31
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia HNRPDL 31 30
  • 99.76 (n)
OneToOne
dog
(Canis familiaris)
Mammalia HNRNPDL 31 30
  • 96.43 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 96 (a)
OneToMany
-- 31
  • 94 (a)
OneToMany
cow
(Bos Taurus)
Mammalia HNRPDL 31 30
  • 95.24 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Hnrnpdl 17 31 30
  • 93.33 (n)
chicken
(Gallus gallus)
Aves HNRNPDL 31 30
  • 79.89 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HNRNPDL 31
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hnrnpdl 30
  • 73.79 (n)
Str.7447 30
African clawed frog
(Xenopus laevis)
Amphibia MGC53310 30
zebrafish
(Danio rerio)
Actinopterygii hnrpdl 31 30
  • 69.07 (n)
OneToOne
wufa11d08 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12196 30
fruit fly
(Drosophila melanogaster)
Insecta sqd 31
  • 36 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HRP1 31
  • 21 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5495 31
  • 42 (a)
ManyToMany
CSA.10292 31
  • 38 (a)
ManyToMany
Species where no ortholog for HNRNPDL was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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)
  • rat (Rattus norvegicus)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for HNRNPDL Gene

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

Paralogs for HNRNPDL Gene

(10) SIMAP similar genes for HNRNPDL Gene using alignment to 1 proteins:

  • HNRDL_HUMAN
genes like me logo Genes that share paralogs with HNRNPDL: view

Variants for HNRNPDL Gene

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

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
640178 Uncertain Significance: Limb-girdle muscular dystrophy, type 1G 82,427,303(-) C/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
642311 Uncertain Significance: Limb-girdle muscular dystrophy, type 1G 82,429,549(-) T/C MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
643492 Uncertain Significance: Limb-girdle muscular dystrophy, type 1G 82,429,388(-) A/AGCG NON_CODING_TRANSCRIPT_VARIANT,INFRAME_INSERTION
646332 Uncertain Significance: Limb-girdle muscular dystrophy, type 1G 82,429,572(-) G/C MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
646823 Uncertain Significance: Limb-girdle muscular dystrophy, type 1G 82,426,133(-) T/C INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for HNRNPDL Gene

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

Variant ID Type Subtype PubMed ID
esv2727892 CNV deletion 23290073
esv2727893 CNV deletion 23290073
esv2727894 CNV deletion 23290073
nsv822632 CNV gain 20364138
nsv829988 CNV loss 17160897

Variation tolerance for HNRNPDL Gene

Residual Variation Intolerance Score: 26.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.61; 45.21% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HNRNPDL Gene

Human Gene Mutation Database (HGMD)
HNRNPDL
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HNRNPDL

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

Disorders for HNRNPDL Gene

MalaCards: The human disease database

(12) MalaCards diseases for HNRNPDL Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
muscular dystrophy, limb-girdle, autosomal dominant 3
  • lgmdd3
muscular dystrophy
  • muscular dystrophies
limb-girdle muscular dystrophy
  • lgmd
autosomal dominant limb-girdle muscular dystrophy
  • limb-girdle muscular dystrophies, autosomal dominant
mixed connective tissue disease
  • connective tissue disease overlap syndrome
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

HNRDL_HUMAN
  • Muscular dystrophy, limb-girdle, autosomal dominant 3 (LGMDD3) [MIM:609115]: An autosomal dominant degenerative myopathy characterized by slowly progressive wasting and weakness of the proximal muscles of arms and legs around the pelvic or shoulder girdles, elevated creatine kinase levels and dystrophic features on muscle biopsy. LGMDD3 is characterized by a mild late-onset and is associated with progressive fingers and toes flexion limitation. Affected individuals may also develop cataracts before age 50. {ECO:0000269 PubMed:24647604}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for HNRNPDL

genes like me logo Genes that share disorders with HNRNPDL: view

No data available for Genatlas for HNRNPDL Gene

Publications for HNRNPDL Gene

  1. Two forms of expression and genomic structure of the human heterogeneous nuclear ribonucleoprotein D-like JKTBP gene (HNRPDL). (PMID: 10072754) Kamei D … Yamada M (Gene 1999) 2 3 4 23 54
  2. A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G). (PMID: 24647604) Vieira NM … Zatz M (Human molecular genetics 2014) 2 3 4 54
  3. Molecular cloning of the cDNA encoding A + U-rich element RNA binding factor. (PMID: 9524220) Doi A … Fujita S (Biochimica et biophysica acta 1998) 2 3 4 54
  4. Overexpression of JKTBP1 induces androgen-independent LNCaP cell proliferation through activation of epidermal growth factor-receptor (EGF-R). (PMID: 18381662) Wu YY … Wei YQ (Cell biochemistry and function 2008) 3 23 54
  5. Regulation of murine cytochrome c oxidase Vb gene expression during myogenesis: YY-1 and heterogeneous nuclear ribonucleoprotein D-like protein (JKTBP1) reciprocally regulate transcription activity by physical interaction with the BERF-1/ZBP-89 factor. (PMID: 15190078) Boopathi E … Avadhani NG (The Journal of biological chemistry 2004) 3 4 54

Products for HNRNPDL Gene

Sources for HNRNPDL Gene