Human Gene HNRNPDL (uc003hmr.3)
  Description: Homo sapiens heterogeneous nuclear ribonucleoprotein D-like (HNRNPDL), transcript variant 2, mRNA.
RefSeq Summary (NM_031372): 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].
Transcript (Including UTRs)
   Position: hg19 chr4:83,343,717-83,351,378 Size: 7,662 Total Exon Count: 8 Strand: -
Coding Region
   Position: hg19 chr4:83,347,212-83,350,843 Size: 3,632 Coding Exon Count: 7 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr4:83,343,717-83,351,378)mRNA (may differ from genome)Protein (420 aa)
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-  Comments and Description Text from UniProtKB
  ID: HNRDL_HUMAN
DESCRIPTION: RecName: Full=Heterogeneous nuclear ribonucleoprotein D-like; Short=hnRNP D-like; Short=hnRNP DL; AltName: Full=AU-rich element RNA-binding factor; AltName: Full=JKT41-binding protein; AltName: Full=Protein laAUF1;
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.
SUBUNIT: Interacts with ZNF148 (By similarity). Interacts with TNPO1.
SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Note=Shuttles between the nucleus and the cytoplasm in a TNPO1-dependent manner.
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.
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.
PTM: Dimethylation of Arg-408 is probably of the asymmetric type.
SIMILARITY: Contains 2 RRM (RNA recognition motif) domains.
SEQUENCE CAUTION: Sequence=BAA22860.1; Type=Erroneous initiation;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: HNRNPDL
Diseases sorted by gene-association score: muscular dystrophy, limb-girdle, type 1g* (1667), muscular dystrophy, limb-girdle, type 1h (12), muscular dystrophy, limb-girdle, type 2q (12), muscular dystrophy, limb-girdle, type 1f (10), muscular dystrophy, limb-girdle, type 2w (10), muscular dystrophy, limb-girdle, type 2r (10), muscular dystrophy-dystroglycanopathy , type c, 7 (10), muscular dystrophy-dystroglycanopathy , type c, 9 (10), muscular dystrophy-dystroglycanopathy , type c, 14 (9), muscular dystrophy-dystroglycanopathy , type c, 2 (9), chromosome 4q21 deletion syndrome (9), muscular dystrophy, limb-girdle, type 1e (8), muscular dystrophy-dystroglycanopathy , type c, 3 (8), muscular dystrophy-dystroglycanopathy , type c, 1 (8), muscular dystrophy, limb-girdle, type 1b (7), muscular dystrophy, limb-girdle, type ic (7), muscular dystrophy-dystroglycanopathy , type c, 4 (7), muscular dystrophy (4)
* = Manually curated disease association

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 117.31 RPKM in Ovary
Total median expression: 3413.31 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -269.50535-0.504 Picture PostScript Text
3' UTR -620.682342-0.265 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR012677 - Nucleotide-bd_a/b_plait
IPR000504 - RRM_dom

Pfam Domains:
PF00076 - RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain)
PF16367 - RNA recognition motif

SCOP Domains:
54928 - RNA-binding domain, RBD

ModBase Predicted Comparative 3D Structure on O14979
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
      
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003676 nucleic acid binding
GO:0003677 DNA binding
GO:0003690 double-stranded DNA binding
GO:0003697 single-stranded DNA binding
GO:0003723 RNA binding
GO:0005515 protein binding
GO:0008143 poly(A) binding
GO:0034046 poly(G) binding

Biological Process:
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006396 RNA processing
GO:0010468 regulation of gene expression
GO:0035722 interleukin-12-mediated signaling pathway

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005681 spliceosomal complex
GO:0005737 cytoplasm
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  D89678 - Homo sapiens mRNA for A+U-rich element RNA binding factor, complete cds.
JD438716 - Sequence 419740 from Patent EP1572962.
JD106694 - Sequence 87718 from Patent EP1572962.
JD287208 - Sequence 268232 from Patent EP1572962.
JD475497 - Sequence 456521 from Patent EP1572962.
JD184059 - Sequence 165083 from Patent EP1572962.
JD086313 - Sequence 67337 from Patent EP1572962.
JD490741 - Sequence 471765 from Patent EP1572962.
JD267222 - Sequence 248246 from Patent EP1572962.
JD243783 - Sequence 224807 from Patent EP1572962.
JD547453 - Sequence 528477 from Patent EP1572962.
JD342592 - Sequence 323616 from Patent EP1572962.
JD153751 - Sequence 134775 from Patent EP1572962.
JD545793 - Sequence 526817 from Patent EP1572962.
AK300122 - Homo sapiens cDNA FLJ60148 complete cds, highly similar to Homo sapiens heterogeneous nuclear ribonucleoprotein D-like (HNRPDL), transcript variant 2, mRNA.
X75683 - H.sapiens (TL35) mRNA from LNCaP cell line.
AY453824 - Homo sapiens CArG binding factor mRNA, complete cds.
BC007392 - Homo sapiens heterogeneous nuclear ribonucleoprotein D-like, mRNA (cDNA clone IMAGE:3832877), partial cds.
BC071944 - Homo sapiens heterogeneous nuclear ribonucleoprotein D-like, mRNA (cDNA clone MGC:88631 IMAGE:5015862), complete cds.
BC011714 - Homo sapiens heterogeneous nuclear ribonucleoprotein D-like, mRNA (cDNA clone MGC:19802 IMAGE:3929324), complete cds.
BC018961 - Homo sapiens heterogeneous nuclear ribonucleoprotein D-like, mRNA (cDNA clone IMAGE:3956124).
D89092 - Homo sapiens hnRNP JKTBP mRNA, complete cds.
AB017019 - Homo sapiens mRNA for JKTBP2, complete cds.
AK057480 - Homo sapiens cDNA FLJ32918 fis, clone TESTI2006588.
JD020449 - Sequence 1473 from Patent EP1572962.
AB066484 - Homo sapiens hnrpdl mRNA for JKTBP1delta6, complete cds.
AK294683 - Homo sapiens cDNA FLJ59198 complete cds, highly similar to Homo sapiens heterogeneous nuclear ribonucleoprotein D-like (HNRPDL), transcript variant 2, mRNA.
KJ902047 - Synthetic construct Homo sapiens clone ccsbBroadEn_11441 HNRPDL gene, encodes complete protein.
DQ892871 - Synthetic construct clone IMAGE:100005501; FLH190472.01X; RZPDo839A0976D heterogeneous nuclear ribonucleoprotein D-like (HNRPDL) gene, encodes complete protein.
KJ898133 - Synthetic construct Homo sapiens clone ccsbBroadEn_07527 HNRPDL gene, encodes complete protein.
DQ896119 - Synthetic construct Homo sapiens clone IMAGE:100010579; FLH190468.01L; RZPDo839A0966D heterogeneous nuclear ribonucleoprotein D-like (HNRPDL) gene, encodes complete protein.
CR407623 - Homo sapiens full open reading frame cDNA clone RZPDo834D0111D for gene HNRPDL, heterogeneous nuclear ribonucleoprotein D-like complete cds, without stopcodon.
CU675641 - Synthetic construct Homo sapiens gateway clone IMAGE:100018766 5' read HNRPDL mRNA.
JD417034 - Sequence 398058 from Patent EP1572962.
JD164811 - Sequence 145835 from Patent EP1572962.
JD259879 - Sequence 240903 from Patent EP1572962.
JD290464 - Sequence 271488 from Patent EP1572962.
JD391309 - Sequence 372333 from Patent EP1572962.
JD428113 - Sequence 409137 from Patent EP1572962.
JD459257 - Sequence 440281 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein O14979 (Reactome details) participates in the following event(s):

R-HSA-8950505 Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation
R-HSA-9020591 Interleukin-12 signaling
R-HSA-447115 Interleukin-12 family signaling
R-HSA-449147 Signaling by Interleukins
R-HSA-1280215 Cytokine Signaling in Immune system
R-HSA-168256 Immune System

-  Other Names for This Gene
  Alternate Gene Symbols: HNRDL_HUMAN, HNRPDL, JKTBP, NM_031372, NP_112740, O14979, Q6SPF2, Q7KZ74, Q7KZ75, Q96IM0, Q96S43
UCSC ID: uc003hmr.3
RefSeq Accession: NM_031372
Protein: O14979 (aka HNRDL_HUMAN)
CCDS: CCDS3593.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_031372.3
exon count: 8CDS single in 3' UTR: no RNA size: 4157
ORF size: 1263CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2726.00frame shift in genome: no % Coverage: 99.59
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.