Human Gene HNRNPU (uc001iaz.1) Description and Page Index
Description: Homo sapiens heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A) (HNRNPU), transcript variant 1, mRNA. RefSeq Summary (NM_031844): 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]. Transcript (Including UTRs) Position: hg19 chr1:245,013,602-245,027,827 Size: 14,226 Total Exon Count: 14 Strand: - Coding Region Position: hg19 chr1:245,017,752-245,027,609 Size: 9,858 Coding Exon Count: 14
ID:HNRPU_HUMAN DESCRIPTION: RecName: Full=Heterogeneous nuclear ribonucleoprotein U; Short=hnRNP U; AltName: Full=Scaffold attachment factor A; Short=SAF-A; AltName: Full=p120; AltName: Full=pp120; FUNCTION: Component of the CRD-mediated complex that promotes MYC mRNA stabilization. Binds to pre-mRNA. Has high affinity for scaffold-attached region (SAR) DNA. Binds to double- and single- stranded DNA and RNA. SUBUNIT: Identified in the spliceosome C complex. Component of the coding region determinant (CRD)-mediated complex, composed of DHX9, HNRNPU, IGF2BP1, SYNCRIP and YBX1. Identified in a mRNP complex, at least composed of DHX9, DDX3X, ELAVL1, HNRNPU, IGF2BP1, ILF3, PABPC1, PCBP2, PTBP2, STAU1, STAU2, SYNCRIP and YBX1. Identified in a mRNP granule complex, at least composed of ACTB, ACTN4, DHX9, ERG, HNRNPA1, HNRNPA2B1, HNRNPAB, HNRNPD, HNRNPL, HNRNPR, HNRNPU, HSPA1, HSPA8, IGF2BP1, ILF2, ILF3, NCBP1, NCL, PABPC1, PABPC4, PABPN1, RPLP0, RPS3, RPS3A, RPS4X, RPS8, RPS9, SYNCRIP, TROVE2, YBX1 and untranslated mRNAs. Interacts with IGF2BP1 and ERBB4. Ligand for CR2. INTERACTION: P42771:CDKN2A; NbExp=2; IntAct=EBI-351126, EBI-375053; SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Cell surface. Note=Localized in cytoplasmic mRNP granules containing untranslated mRNAs. Component of ribonucleosomes. Also found associated with the cell surface. PTM: Extensively phosphorylated. PTM: Arg-733 and Arg-739 are dimethylated, probably to asymmetric dimethylarginine. SIMILARITY: Contains 1 B30.2/SPRY domain. SIMILARITY: Contains 1 SAP domain. SEQUENCE CAUTION: Sequence=AAC19382.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing;
Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): HNRNPU CDC HuGE Published Literature: HNRNPU Positive Disease Associations: Parkinson Disease Related Studies:
Parkinson Disease Hon-Chung Fung et al. Lancet neurology 2006, Genome-wide genotyping in Parkinson's disease and neurologically normal controls: first stage analysis and public release of data., Lancet neurology.
We generated publicly available genotype data for Parkinsons disease patients and controls so that these data can be mined and augmented by other researchers to identify common genetic variability that results in minor and moderate risk for disease.
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.
ModBase Predicted Comparative 3D Structure on Q00839
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.
Biological Process: GO:0000122 negative regulation of transcription from RNA polymerase II promoter GO:0000381 regulation of alternative mRNA splicing, via spliceosome GO:0000398 mRNA splicing, via spliceosome GO:0001649 osteoblast differentiation GO:0006325 chromatin organization GO:0006351 transcription, DNA-templated GO:0006355 regulation of transcription, DNA-templated GO:0006396 RNA processing GO:0006397 mRNA processing GO:0007049 cell cycle GO:0007275 multicellular organism development GO:0007346 regulation of mitotic cell cycle GO:0008380 RNA splicing GO:0009048 dosage compensation by inactivation of X chromosome GO:0016070 RNA metabolic process GO:0030154 cell differentiation GO:0032211 negative regulation of telomere maintenance via telomerase GO:0032922 circadian regulation of gene expression GO:0033673 negative regulation of kinase activity GO:0034244 negative regulation of transcription elongation from RNA polymerase II promoter GO:0045944 positive regulation of transcription from RNA polymerase II promoter GO:0048255 mRNA stabilization GO:0048511 rhythmic process GO:0051301 cell division GO:0051457 maintenance of protein location in nucleus GO:0055013 cardiac muscle cell development GO:0070934 CRD-mediated mRNA stabilization GO:0071385 cellular response to glucocorticoid stimulus GO:0090336 positive regulation of brown fat cell differentiation GO:1901673 regulation of mitotic spindle assembly GO:1902275 regulation of chromatin organization GO:1902425 positive regulation of attachment of mitotic spindle microtubules to kinetochore GO:1902889 protein localization to spindle microtubule GO:1990280 RNA localization to chromatin GO:1990830 cellular response to leukemia inhibitory factor GO:1990845 adaptive thermogenesis GO:2000373 positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity GO:2000648 positive regulation of stem cell proliferation GO:2000737 negative regulation of stem cell differentiation