Human Gene HNRNPU (ENST00000283179.14) Description and Page Index
  Description: heterogeneous nuclear ribonucleoprotein U (from HGNC HNRNPU)
RefSeq Summary (NM_004501): This gene encodes a member of a family of proteins that bind nucleic acids and function in the formation of ribonucleoprotein complexes in the nucleus with heterogeneous nuclear RNA (hnRNA). The encoded protein has affinity for both RNA and DNA, and binds scaffold-attached region (SAR) DNA. Mutations in this gene have been associated with epileptic encephalopathy, early infantile, 54. A pseudogene of this gene has been identified on chromosome 14. [provided by RefSeq, Jun 2017].
Gencode Transcript: ENST00000283179.14
Gencode Gene: ENSG00000153187.20
Transcript (Including UTRs)
   Position: hg38 chr1:244,853,752-244,864,494 Size: 10,743 Total Exon Count: 12 Strand: -
Coding Region
   Position: hg38 chr1:244,854,450-244,864,307 Size: 9,858 Coding Exon Count: 12 

Page IndexSequence and LinksMalaCardsCTDRNA-Seq ExpressionMicroarray Expression
RNA StructureOther SpeciesmRNA DescriptionsPathwaysOther NamesMethods
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:244,853,752-244,864,494)mRNA (may differ from genome)Protein (744 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblExonPrimerGeneCardsHGNCLynx
MGIPubMedStanford SOURCEUniProtKB

-  MalaCards Disease Associations
  MalaCards Gene Search: HNRNPU
Diseases sorted by gene-association score: epileptic encephalopathy, early infantile, 54* (930), 1q44 microdeletion syndrome* (25), diffuse gastric cancer (6)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 104.04 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 2620.07 RPKM



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

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -67.80187-0.363 Picture PostScript Text
3' UTR -162.10698-0.232 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.

-  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
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Descriptions from all associated GenBank mRNAs
  LP895192 - Sequence 56 from Patent EP3253886.
BC015782 - Homo sapiens heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A), mRNA (cDNA clone MGC:23593 IMAGE:4857112), complete cds.
AK126868 - Homo sapiens cDNA FLJ44920 fis, clone BRAMY3011501, highly similar to Heterogeneous nuclear ribonucleoprotein U.
AK130669 - Homo sapiens cDNA FLJ27159 fis, clone SYN00850.
BC034925 - Homo sapiens, Similar to heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A), clone IMAGE:3953856, mRNA, partial cds.
BC007950 - Homo sapiens heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A), mRNA (cDNA clone IMAGE:4299389), partial cds.
BC003367 - Homo sapiens heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A), mRNA (cDNA clone MGC:5216 IMAGE:2900876), complete cds.
AF068846 - Homo sapiens scaffold attachment factor A (SAF-A) mRNA, complete cds.
X65488 - H.sapiens U21.1 mRNA.
JD180118 - Sequence 161142 from Patent EP1572962.
JD502042 - Sequence 483066 from Patent EP1572962.
JD045559 - Sequence 26583 from Patent EP1572962.
JD485951 - Sequence 466975 from Patent EP1572962.
JD527443 - Sequence 508467 from Patent EP1572962.
JD092939 - Sequence 73963 from Patent EP1572962.
JD565968 - Sequence 546992 from Patent EP1572962.
AF461014 - Homo sapiens unknown mRNA.
BC024767 - Homo sapiens heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A), mRNA (cDNA clone MGC:29899 IMAGE:4993703), complete cds.
AK297119 - Homo sapiens cDNA FLJ54020 complete cds, highly similar to Heterogeneous nuclear ribonucleoprotein U.
JD142776 - Sequence 123800 from Patent EP1572962.
BC003621 - Homo sapiens heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A), mRNA (cDNA clone MGC:1992 IMAGE:2966453), complete cds.
EU831468 - Synthetic construct Homo sapiens clone HAIB:100066497; DKFZo008F1017 heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A) protein (HNRNPU) gene, encodes complete protein.
EU831555 - Synthetic construct Homo sapiens clone HAIB:100066584; DKFZo004F1018 heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A) protein (HNRNPU) gene, encodes complete protein.
DQ893316 - Synthetic construct clone IMAGE:100005946; FLH196102.01X; RZPDo839D06154D heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A) (HNRPU) gene, encodes complete protein.
DQ896631 - Synthetic construct Homo sapiens clone IMAGE:100011091; FLH196098.01L; RZPDo839D06153D heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A) (HNRPU) gene, encodes complete protein.
AB384995 - Synthetic construct DNA, clone: pF1KB4877, Homo sapiens HNRNPU gene for heterogeneous nuclear ribonucleoprotein U, complete cds, without stop codon, in Flexi system.
AK307661 - Homo sapiens cDNA, FLJ97609.
D13413 - Homo sapiens mRNA for p120, partial cds.
JD336900 - Sequence 317924 from Patent EP1572962.
JD458221 - Sequence 439245 from Patent EP1572962.
JD458230 - Sequence 439254 from Patent EP1572962.
JD556245 - Sequence 537269 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa03040 - Spliceosome

-  Other Names for This Gene
  Alternate Gene Symbols: A0A1X7SBS1, LP895192, uc285hqr.1
UCSC ID: uc285hqr.1
RefSeq Accession: NM_004501

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