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Aliases for HNRNPDL Gene

Aliases for HNRNPDL Gene

  • Heterogeneous Nuclear Ribonucleoprotein D Like 2 3 5
  • 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
  • Heterogeneous Nuclear Ribonucleoprotein D-Like 3
  • A+U-Rich Element RNA Binding Factor 3
  • JKTBP2 3
  • LGMD1G 3
  • LaAUF1 3
  • HNRNP 3

External Ids for HNRNPDL Gene

Previous HGNC Symbols for HNRNPDL Gene

  • HNRPDL

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 Limb-Girdle Muscular Dystrophy, Type 1G and Chromosome 4Q21 Deletion Syndrome. GO annotations related to this gene include nucleic acid binding and nucleotide binding. An important paralog of this gene is HNRNPD.

UniProtKB/Swiss-Prot 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HNRNPDL Gene

Genomics for HNRNPDL Gene

Regulatory Elements for HNRNPDL Gene

Enhancers for HNRNPDL Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH04F082370 1.2 ENCODE 11.7 +57.0 56954 5.0 HDGF PKNOX1 ARNT MLX WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 ENSG00000199530 ENOPH1 HNRNPDL LINC00575 LOC101928963 TMEM150C PIR50483
GH04F082359 1 Ensembl ENCODE 11.7 +69.8 69808 2.0 CTCF ZNF654 PKNOX1 SAP130 TRIM22 REST RAD21 ZNF335 ZNF664 MEF2D ENOPH1 HNRNPDL ENSG00000273156 PIR50483
GH04F082362 0.9 Ensembl 11.7 +67.5 67508 0.6 ELF3 HDAC1 ARID4B SIN3A DMAP1 THRB ZNF48 ZNF335 GLIS2 MIXL1 ENOPH1 HNRNPDL ENSG00000273156 PIR50483
GH04F082380 0.9 Ensembl ENCODE 11.4 +49.9 49894 0.6 CTCF ZNF687 MAX USF2 SIN3A MNT RAD21 ZNF592 CBX1 KLF9 ENOPH1 HNRNPDL HNRNPD IGBP1P4
GH04F082394 0.6 ENCODE 11.7 +35.4 35385 1.1 TFE3 RAD51 SAP130 HLF FOS FOSL2 PRDM1 ENOPH1 HNRNPDL HNRNPD TMEM150C IGBP1P4
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around HNRNPDL on UCSC Golden Path with GeneCards custom track

Promoters for HNRNPDL Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001244188 907 5000 HDGF PKNOX1 CREB3L1 MLX WRNIP1 ARID4B SIN3A FEZF1 DMAP1 ZNF2

Genomic Location for HNRNPDL Gene

Chromosome:
4
Start:
82,422,564 bp from pter
End:
82,430,408 bp from pter
Size:
7,845 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=Translation N-terminally extended.; 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 Lys 137, Lys 149, Lys 162, Lys 197, Lys 204, and Lys 302
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for HNRNPDL Gene

Domains & Families for HNRNPDL Gene

Gene Families for HNRNPDL Gene

Protein Domains for HNRNPDL Gene

Suggested Antigen Peptide Sequences for HNRNPDL Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O14979

UniProtKB/Swiss-Prot:

HNRDL_HUMAN :
  • Contains 2 RRM (RNA recognition motif) domains.
Domain:
  • Contains 2 RRM (RNA recognition motif) domains.
genes like me logo Genes that share domains with HNRNPDL: view

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.

Gene Ontology (GO) - Molecular Function for HNRNPDL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding IEA --
GO:0003723 RNA binding IEA --
GO:0005515 protein binding IPI 26420826
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

Inhibitory RNA Products

Flow Cytometry 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
extracellular 5
nucleus 5
mitochondrion 1
cytosol 1

Gene Ontology (GO) - Cellular Components for HNRNPDL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0019013 viral nucleocapsid IEA --
GO:0030529 intracellular ribonucleoprotein complex IEA --
genes like me logo Genes that share ontologies with HNRNPDL: view

Pathways & Interactions for HNRNPDL Gene

SuperPathways for HNRNPDL Gene

No Data Available

Gene Ontology (GO) - Biological Process for HNRNPDL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
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

Inhibitory RNA Products

Flow Cytometry 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
ECgene alternative splicing isoforms 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, PaxDb, MaxQB, and MOPED for HNRNPDL Gene



Protein tissue co-expression partners for HNRNPDL Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of HNRNPDL Gene:

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.
genes like me logo Genes that share expression patterns with HNRNPDL: view

Primer Products

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 35
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia HNRPDL 34 35
  • 99.76 (n)
dog
(Canis familiaris)
Mammalia HNRNPDL 34 35
  • 96.43 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 96 (a)
OneToMany
-- 35
  • 94 (a)
OneToMany
cow
(Bos Taurus)
Mammalia HNRPDL 34 35
  • 95.24 (n)
mouse
(Mus musculus)
Mammalia Hnrnpdl 34 16 35
  • 93.33 (n)
chicken
(Gallus gallus)
Aves HNRNPDL 34 35
  • 79.89 (n)
lizard
(Anolis carolinensis)
Reptilia HNRNPDL 35
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hnrnpdl 34
  • 73.79 (n)
Str.7447 34
African clawed frog
(Xenopus laevis)
Amphibia MGC53310 34
zebrafish
(Danio rerio)
Actinopterygii hnrpdl 34 35
  • 69.07 (n)
wufa11d08 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12196 34
fruit fly
(Drosophila melanogaster)
Insecta sqd 35
  • 36 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HRP1 35
  • 21 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5495 35
  • 42 (a)
ManyToMany
CSA.10292 35
  • 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)

Paralogs for HNRNPDL Gene

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

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

Variants for HNRNPDL Gene

Sequence variations from dbSNP and Humsavar for HNRNPDL Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs587777669 Limb-girdle muscular dystrophy 1G (LGMD1G) [MIM:609115], Limb-girdle muscular dystrophy 1G (LGMD1G) [MIM:609115], Pathogenic 82,426,523(+) ATAAT(C/G/T)ATATC intron-variant, nc-transcript-variant, reference, missense
rs10002169 -- 82,429,944(+) GCGGC(A/G)GCCGC nc-transcript-variant, upstream-variant-2KB, utr-variant-5-prime
rs10024950 -- 82,429,576(+) CGGGG(C/T)TAGCT nc-transcript-variant, upstream-variant-2KB, reference, missense
rs10026631 -- 82,425,953(+) CATAG(C/T)ATTTT intron-variant
rs1045250 -- 82,430,692(+) CGGCG(G/T)GCTGC nc-transcript-variant, upstream-variant-2KB, utr-variant-5-prime

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)

Relevant External Links 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

(3) MalaCards diseases for HNRNPDL Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and Novoseek

Disorder Aliases PubMed IDs
limb-girdle muscular dystrophy, type 1g
  • autosomal dominant limb-girdle muscular dystrophy type 1g
chromosome 4q21 deletion syndrome
  • 4q21 microdeletion syndrome
mass syndrome
  • mixed connective tissue disease
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

HNRDL_HUMAN
  • Limb-girdle muscular dystrophy 1G (LGMD1G) [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. LGMD1G 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.

Relevant External Links for HNRNPDL

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 22 64
  2. Molecular cloning of the cDNA encoding A + U-rich element RNA binding factor. (PMID: 9524220) Doi A. … Fujita S. (Biochim. Biophys. Acta 1998) 2 3 4 64
  3. A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G). (PMID: 24647604) Vieira N.M. … Zatz M. (Hum. Mol. Genet. 2014) 3 4 64
  4. Overexpression of JKTBP1 induces androgen-independent LNCaP cell proliferation through activation of epidermal growth factor-receptor (EGF-R). (PMID: 18381662) Wu Y.Y. … Wei Y.Q. (Cell Biochem. Funct. 2008) 3 22 64
  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 N.G. (J. Biol. Chem. 2004) 3 4 64

Products for HNRNPDL Gene

Sources for HNRNPDL Gene

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