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Aliases for HNRNPDL Gene

Aliases for HNRNPDL Gene

  • Heterogeneous Nuclear Ribonucleoprotein D-Like 2 3
  • HNRPDL 3 4 6
  • JKTBP 3 4 6
  • 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
  • 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 autosomal dominant limb-girdle muscular dystrophy type 1g. GO annotations related to this gene include RNA binding and double-stranded DNA binding. An important paralog of this gene is HNRNPA0.

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

Genomic Location for HNRNPDL Gene

Start:
82,422,564 bp from pter
End:
82,430,225 bp from pter
Size:
7,662 bases
Orientation:
Minus strand

Genomic View for HNRNPDL Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for HNRNPDL Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HNRNPDL Gene

No data available for Regulatory Elements 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

Proteomics data for HNRNPDL Gene at MOPED

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

No data available for DME Specific Peptides for HNRNPDL Gene

Domains for HNRNPDL Gene

Gene Families for HNRNPDL Gene

HGNC:
  • RBM :RNA binding motif (RRM) containing

Protein Domains for HNRNPDL Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

O14979

UniProtKB/Swiss-Prot:

HNRDL_HUMAN :
  • O14979
Domain:
  • Contains 2 RRM (RNA recognition motif) domains.
genes like me logo Genes that share domains with HNRNPDL: view

No data available for Suggested Antigen Peptide Sequences 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.

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 --
GO:0003677 DNA binding IEA --
GO:0003690 double-stranded DNA binding IDA 9538234
GO:0003697 single-stranded DNA binding IDA 9538234
genes like me logo Genes that share ontologies with HNRNPDL: view

Phenotypes for HNRNPDL Gene

GenomeRNAi human phenotypes for HNRNPDL:
genes like me logo Genes that share phenotypes with HNRNPDL: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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.

Gene Ontology (GO) - Cellular Components for HNRNPDL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 9538234
GO:0005654 nucleoplasm IDA --
GO:0005681 spliceosomal complex NAS 9538234
GO:0005737 cytoplasm IEA --
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with HNRNPDL: view

No data available for Subcellular locations from COMPARTMENTS for HNRNPDL Gene

Pathways 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 --
GO:0006396 RNA processing NAS 9538234
GO:0010468 regulation of gene expression IDA 9538234
genes like me logo Genes that share ontologies with HNRNPDL: view

No data available for Pathways by source for HNRNPDL Gene

Compounds for HNRNPDL Gene

(1) Novoseek inferred chemical compound relationships for HNRNPDL Gene

Compound -log(P) Hits PubMed IDs
nacl 6.07 1
genes like me logo Genes that share compounds with HNRNPDL: view

Transcripts for HNRNPDL Gene

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 for HNRNPDL Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for HNRNPDL Gene

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 expressions with HNRNPDL: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and 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
chimpanzee
(Pan troglodytes)
Mammalia HNRPDL 35
  • 99.76 (n)
  • 100 (a)
HNRPDL 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia HNRPDL 35
  • 95.24 (n)
  • 98.57 (a)
HNRPDL 36
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HNRNPDL 35
  • 96.43 (n)
  • 98.81 (a)
HNRNPDL 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hnrnpdl 35
  • 93.33 (n)
  • 97.14 (a)
Hnrnpdl 36
  • 97 (a)
OneToOne
Hnrpdl 16
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 94 (a)
OneToMany
-- 36
  • 96 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia HNRNPDL 36
  • 100 (a)
OneToOne
chicken
(Gallus gallus)
Aves HNRNPDL 35
  • 79.89 (n)
  • 94.33 (a)
HNRNPDL 36
  • 94 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HNRNPDL 36
  • 87 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia MGC53310 35
tropical clawed frog
(Silurana tropicalis)
Amphibia hnrnpdl 35
  • 73.79 (n)
  • 81.69 (a)
Str.7447 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12196 35
zebrafish
(Danio rerio)
Actinopterygii hnrpdl 35
  • 69.07 (n)
  • 78.35 (a)
hnrpdl 36
  • 79 (a)
OneToOne
wufa11d08 35
fruit fly
(Drosophila melanogaster)
Insecta sqd 36
  • 36 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HRP1 36
  • 21 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10292 36
  • 38 (a)
ManyToMany
CSA.5495 36
  • 42 (a)
ManyToMany
Species with no ortholog for HNRNPDL:
  • 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

Paralogs for HNRNPDL Gene

Selected 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 MAF
rs9316 -- 82,423,591(-) CTCAC(A/G)CAACG utr-variant-3-prime, nc-transcript-variant
rs13952 -- 82,423,697(-) AATAA(A/T)AAGCT utr-variant-3-prime, nc-transcript-variant
rs14580 -- 82,426,604(-) GATTT(A/T)ATAAC intron-variant, reference, missense, nc-transcript-variant
rs997719 -- 82,423,755(+) CACCC(A/G)GAGGG utr-variant-3-prime, nc-transcript-variant
rs997720 -- 82,423,993(+) GTTCA(A/G)TCTTG utr-variant-3-prime, nc-transcript-variant

Relevant External Links for HNRNPDL Gene

HapMap Linkage Disequilibrium report
HNRNPDL
Human Gene Mutation Database (HGMD)
HNRNPDL

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for HNRNPDL Gene

Disorders for HNRNPDL Gene

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.

(6) Novoseek inferred disease relationships for HNRNPDL Gene

Disease -log(P) Hits PubMed IDs
mixed connective tissue disease 55.9 3
rheumatic diseases 20.5 1
lupus erythematosus systemic 11.4 3
shock 0 2
rheumatoid arthritis 0 3
genes like me logo Genes that share disorders with HNRNPDL: view

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
  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
  3. Cloning and characterization of a cDNA encoding a novel heterogeneous nuclear ribonucleoprotein-like protein and its expression in myeloid leukemia cells. (PMID: 9538234) Tsuchiya N. … Yamada M. (J. Biochem. 1998) 3 4
  4. Identification of the nucleocytoplasmic shuttling sequence of heterogeneous nuclear ribonucleoprotein D-like protein JKTBP and its interaction with mRNA. (PMID: 11705999) Kawamura H. … Yamada M. (J. Biol. Chem. 2002) 3 4
  5. 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

Products for HNRNPDL Gene

Sources for HNRNPDL Gene

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