HNRNPU Gene (Protein Coding)

Heterogeneous Nuclear Ribonucleoprotein U

GC01M244850
GIFtS:
44
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 infanti... See more...

Aliases for HNRNPU Gene

Aliases for HNRNPU Gene

  • Heterogeneous Nuclear Ribonucleoprotein U 2 3 4 5
  • Heterogeneous Nuclear Ribonucleoprotein U (Scaffold Attachment Factor A) 2 3
  • Nuclear P120 Ribonucleoprotein 3 4
  • HNRNPU Antisense RNA 1 2 3
  • GRIP120 3 4
  • HnRNP U 3 4
  • HNRPU 3 4
  • SAF-A 3 4
  • U21.1 3 4
  • Pp120 3 4
  • SAFA 3 4
  • HNRNPU Antisense RNA 1 (Non-Protein Coding) 2
  • Chromosome 1 Open Reading Frame 199 2
  • Scaffold-Attachment Factor A 4
  • Scaffold Attachment Factor A 2
  • Non-Protein Coding RNA 201 2
  • P120 Nuclear Protein 3
  • HNRNPU-AS1 3
  • C1orf199 4
  • EIEE54 3
  • P120 4

External Ids for HNRNPU Gene

Previous HGNC Symbols for HNRNPU Gene

  • HNRPU
  • HNRNPU-AS1
  • C1orf199
  • NCRNA00201

Previous GeneCards Identifiers for HNRNPU Gene

  • GC01M243081
  • GC01M245013
  • GC01M215396

Summaries for HNRNPU Gene

Entrez Gene Summary for HNRNPU Gene

  • 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]

GeneCards Summary for HNRNPU Gene

HNRNPU (Heterogeneous Nuclear Ribonucleoprotein U) is a Protein Coding gene. Diseases associated with HNRNPU include Epileptic Encephalopathy, Early Infantile, 54 and Visual Epilepsy. Among its related pathways are Circadian rythm related genes and Gene Expression. Gene Ontology (GO) annotations related to this gene include kinase activity. An important paralog of this gene is HNRNPUL1.

UniProtKB/Swiss-Prot Summary for HNRNPU Gene

  • DNA- and RNA-binding protein involved in several cellular processes such as nuclear chromatin organization, telomere-length regulation, transcription, mRNA alternative splicing and stability, Xist-mediated transcriptional silencing and mitotic cell progression (PubMed:10490622, PubMed:18082603, PubMed:19029303, PubMed:22325991, PubMed:25986610, PubMed:28622508). Plays a role in the regulation of interphase large-scale gene-rich chromatin organization through chromatin-associated RNAs (caRNAs) in a transcription-dependent manner, and thereby maintains genomic stability (PubMed:1324173, PubMed:8174554, PubMed:28622508). Required for the localization of the long non-coding Xist RNA on the inactive chromosome X (Xi) and the subsequent initiation and maintenance of X-linked transcriptional gene silencing during X-inactivation (By similarity). Plays a role as a RNA polymerase II (Pol II) holoenzyme transcription regulator (PubMed:8174554, PubMed:9353307, PubMed:10490622, PubMed:15711563, PubMed:19617346, PubMed:23811339). Promotes transcription initiation by direct association with the core-TFIIH basal transcription factor complex for the assembly of a functional pre-initiation complex with Pol II in a actin-dependent manner (PubMed:10490622, PubMed:15711563). Blocks Pol II transcription elongation activity by inhibiting the C-terminal domain (CTD) phosphorylation of Pol II and dissociates from Pol II pre-initiation complex prior to productive transcription elongation (PubMed:10490622). Positively regulates CBX5-induced transcriptional gene silencing and retention of CBX5 in the nucleus (PubMed:19617346). Negatively regulates glucocorticoid-mediated transcriptional activation (PubMed:9353307). Key regulator of transcription initiation and elongation in embryonic stem cells upon leukemia inhibitory factor (LIF) signaling (By similarity). Involved in the long non-coding RNA H19-mediated Pol II transcriptional repression (PubMed:23811339). Participates in the circadian regulation of the core clock component ARNTL/BMAL1 transcription (By similarity). Plays a role in the regulation of telomere length (PubMed:18082603). Plays a role as a global pre-mRNA alternative splicing modulator by regulating U2 small nuclear ribonucleoprotein (snRNP) biogenesis (PubMed:22325991). Plays a role in mRNA stability (PubMed:17174306, PubMed:17289661, PubMed:19029303). Component of the CRD-mediated complex that promotes MYC mRNA stabilization (PubMed:19029303). Enhances the expression of specific genes, such as tumor necrosis factor TNFA, by regulating mRNA stability, possibly through binding to the 3'-untranslated region (UTR) (PubMed:17174306). Plays a role in mitotic cell cycle regulation (PubMed:21242313, PubMed:25986610). Involved in the formation of stable mitotic spindle microtubules (MTs) attachment to kinetochore, spindle organization and chromosome congression (PubMed:21242313). Phosphorylation at Ser-59 by PLK1 is required for chromosome alignement and segregation and progression through mitosis (PubMed:25986610). Contributes also to the targeting of AURKA to mitotic spindle MTs (PubMed:21242313). Binds to double- and single-stranded DNA and RNA, poly(A), poly(C) and poly(G) oligoribonucleotides (PubMed:1628625, PubMed:8068679, PubMed:8174554, PubMed:9204873, PubMed:9405365). Binds to chromatin-associated RNAs (caRNAs) (PubMed:28622508). Associates with chromatin to scaffold/matrix attachment region (S/MAR) elements in a chromatin-associated RNAs (caRNAs)-dependent manner (PubMed:7509195, PubMed:1324173, PubMed:9204873, PubMed:9405365, PubMed:10671544, PubMed:11003645, PubMed:11909954, PubMed:28622508). Binds to the Xist RNA (PubMed:26244333). Binds the long non-coding H19 RNA (PubMed:23811339). Binds to SMN1/2 pre-mRNAs at G/U-rich regions (PubMed:22325991). Binds to small nuclear RNAs (snRNAs) (PubMed:22325991). Binds to the 3'-UTR of TNFA mRNA (PubMed:17174306). Binds (via RNA-binding RGG-box region) to the long non-coding Xist RNA; this binding is direct and bridges the Xist RNA and the inactive chromosome X (Xi) (By similarity). Also negatively regulates embryonic stem cell differentiation upon LIF signaling (By similarity). Required for embryonic development (By similarity). Binds to brown fat long non-coding RNA 1 (Blnc1); facilitates the recruitment of Blnc1 by ZBTB7B required to drive brown and beige fat development and thermogenesis (By similarity).
  • (Microbial infection) Negatively regulates immunodeficiency virus type 1 (HIV-1) replication by preventing the accumulation of viral mRNA transcripts in the cytoplasm.

Gene Wiki entry for HNRNPU Gene

Additional gene information for HNRNPU Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HNRNPU Gene

Genomics for HNRNPU Gene

GeneHancer (GH) Regulatory Elements for HNRNPU Gene

Promoters and enhancers for HNRNPU Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HNRNPU on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for HNRNPU

Top Transcription factor binding sites by QIAGEN in the HNRNPU gene promoter:
  • CREB
  • deltaCREB

Genomic Locations for HNRNPU Gene

Genomic Locations for HNRNPU Gene
chr1:244,840,638-244,864,560
(GRCh38/hg38)
Size:
23,923 bases
Orientation:
Minus strand
chr1:245,013,602-245,027,844
(GRCh37/hg19)
Size:
14,243 bases
Orientation:
Minus strand

Genomic View for HNRNPU Gene

Genes around HNRNPU on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HNRNPU Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HNRNPU Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for HNRNPU Gene

Proteins for HNRNPU Gene

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  • Protein details for HNRNPU Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q00839-HNRPU_HUMAN
    Recommended name:
    Heterogeneous nuclear ribonucleoprotein U
    Protein Accession:
    Q00839
    Secondary Accessions:
    • O75507
    • Q8N174
    • Q96HY9
    • Q9BQ09

    Protein attributes for HNRNPU Gene

    Size:
    825 amino acids
    Molecular mass:
    90584 Da
    Quaternary structure:
    • Oligomer (via ATPase domain and RNA-binding RGG-box region); oligomerization occurs upon ATP-binding in a chromatin-associated RNAs (caRNAs)- and transcription-dependent manner and is required for chromatin decompaction (PubMed:28622508). ATP hydrolysis is required to cycle from an oligomeric to monomeric state to compact chromatin (PubMed:28622508). Component of the coding region determinant (CRD)-mediated complex, composed of DHX9, HNRNPU, IGF2BP1, SYNCRIP and YBX1 (PubMed:19029303). Identified in the spliceosome C complex (PubMed:11991638). Identified in a IGF2BP1-dependent mRNP granule complex containing untranslated mRNAs (PubMed:17289661, PubMed:19029303). Associates with heterogeneous nuclear ribonucleoprotein (hnRNP) particles (PubMed:8174554, PubMed:9204873, PubMed:9405365, PubMed:11909954). Associates (via middle region) with the C-terminal domain (CTD) RNA polymerase II (Pol II) holoenzyme; this association occurs in a RNA-independent manner (PubMed:10490622). Associates (via middle region) with the core-TFIIH basal transcription factor complex; this association inhibits the CTD phosphorylation of RNA polymerase II holoenzyme by downregulating TFIIH kinase activity (PubMed:10490622). Associates with the telomerase holoenzyme complex (PubMed:18082603). Associates with spindle microtubules (MTs) in a TPX2-dependent manner (PubMed:21242313). Interacts (via C-terminus) with actin; this interaction is direct and mediates association with the phosphorylated CTD of RNA polymerase II and is disrupted in presence of the long non-coding H19 RNA (PubMed:15711563, PubMed:23811339). Interacts with AURKA (PubMed:21242313, PubMed:25986610). Interacts (via C-terminus) with CBX5; this interaction is, at least in part, RNA-dependent (PubMed:19617346). Interacts with CR2 (PubMed:7753047). Interacts with CRY1 (By similarity). Interacts (via C-terminus) with EP300; this interaction enhances DNA-binding to nuclear scaffold/matrix attachment region (S/MAR) elements (PubMed:11909954). Interacts with ERBB4 (PubMed:20858735). Interacts with GEMIN5 (PubMed:25911097). Interacts with IGF2BP1 (PubMed:17289661, PubMed:23640942). Interacts with IGF2BP2 and IGF2BP3 (PubMed:23640942). Interacts with NCL; this interaction occurs during mitosis (PubMed:21242313). Interacts (via C-terminus) with NR3C1 (via C-terminus) (PubMed:9353307). Interacts with PLK1; this interaction induces phosphorylation of HNRNPU at Ser-59 in mitosis (PubMed:25986610). Interacts with POU3F4 (PubMed:9105675). Interacts with SMARCA4; this interaction occurs in embryonic stem cells and stimulates global Pol II-mediated transcription. Interacts (via C-terminus) with TOP2A; this interaction protects the topoisomerase TOP2A from degradation and positively regulates the relaxation of supercoiled DNA by TOP2A in a RNA-dependent manner (By similarity). Interacts with TPX2; this interaction recruits HNRNPU to spindle microtubules (MTs) (PubMed:21242313, PubMed:25986610). Interacts with UBQLN2 (PubMed:25616961). Interacts (via RNA-binding RGG-box region) with ZBTB7B; the interaction facilitates the recruitment of long non-coding RNA Blnc1 by ZBTB7B (By similarity). Interacts with ERCC6 (PubMed:26030138).
    • (Microbial infection) Interacts with HIV-1 protein Rev.
    SequenceCaution:
    • Sequence=AAC19382.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for HNRNPU Gene

    Alternative splice isoforms for HNRNPU Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HNRNPU Gene

Protein Expression for HNRNPU Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for HNRNPU Gene

  • Cleaved at Asp-100 by CASP3 during T-cell apoptosis, resulting in a loss of DNA- and chromatin-binding activities (PubMed:9405365, PubMed:10671544).
  • Extensively phosphorylated (PubMed:7993898). Phosphorylated on Ser-59 by PLK1 and dephosphorylated by protein phosphatase 2A (PP2A) in mitosis (PubMed:25986610).
  • Arg-739 is dimethylated, probably to asymmetric dimethylarginine (Ref.8). Arg-733 is dimethylated, probably to asymmetric dimethylarginine (By similarity).
  • Citrullinated by PADI4.
  • Ubiquitination at Lys9, Lys186, Lys265, Lys352, Lys464, Lys516, Lys524, Lys536, Lys544, Lys551, Lys565, Lys602, Lys635, Lys664, and Lys814
  • Modification sites at PhosphoSitePlus

Other Protein References for HNRNPU Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for HNRNPU Gene

Domains & Families for HNRNPU Gene

Gene Families for HNRNPU Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for HNRNPU Gene

Blocks:
  • DNA-binding SAP
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for HNRNPU Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ44920 fis, clone BRAMY3011501, highly similar to Heterogeneous nuclear ribonucleoprotein U (B3KX72_HUMAN)
  • pp120 (HNRPU_HUMAN)
  • Heterogeneous nuclear ribonucleoprotein U (Scaffold attachment factor A) (Q5RI17_HUMAN)
  • Heterogeneous nuclear ribonucleoprotein U (Scaffold attachment factor A) (Q5RI19_HUMAN)
  • Heterogeneous nuclear ribonucleoprotein U (Scaffold attachment factor A), isoform CRA_a (Q7Z4Q5_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q00839

UniProtKB/Swiss-Prot:

HNRPU_HUMAN :
  • The SAP domain is necessary for specific binding to nuclear scaffold/matrix attachment region (S/MAR) elements in DNA (PubMed:9405365, PubMed:11003645). The RNA-binding RGG-box region is necessary for its association with inactive X chromosome (Xi) regions and to chromatin-associated RNAs (caRNAs) (PubMed:14608463, PubMed:28622508). Both the DNA-binding domain SAP and the RNA-binding RGG-box region are necessary for the localization of Xist RNA on the Xi (By similarity). The ATPase and RNA-binding RGG-box regions are necessary for oligomerization (PubMed:28622508).
Domain:
  • The SAP domain is necessary for specific binding to nuclear scaffold/matrix attachment region (S/MAR) elements in DNA (PubMed:9405365, PubMed:11003645). The RNA-binding RGG-box region is necessary for its association with inactive X chromosome (Xi) regions and to chromatin-associated RNAs (caRNAs) (PubMed:14608463, PubMed:28622508). Both the DNA-binding domain SAP and the RNA-binding RGG-box region are necessary for the localization of Xist RNA on the Xi (By similarity). The ATPase and RNA-binding RGG-box regions are necessary for oligomerization (PubMed:28622508).
genes like me logo Genes that share domains with HNRNPU: view

Function for HNRNPU Gene

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Molecular function for HNRNPU Gene

UniProtKB/Swiss-Prot Function:
DNA- and RNA-binding protein involved in several cellular processes such as nuclear chromatin organization, telomere-length regulation, transcription, mRNA alternative splicing and stability, Xist-mediated transcriptional silencing and mitotic cell progression (PubMed:10490622, PubMed:18082603, PubMed:19029303, PubMed:22325991, PubMed:25986610, PubMed:28622508). Plays a role in the regulation of interphase large-scale gene-rich chromatin organization through chromatin-associated RNAs (caRNAs) in a transcription-dependent manner, and thereby maintains genomic stability (PubMed:1324173, PubMed:8174554, PubMed:28622508). Required for the localization of the long non-coding Xist RNA on the inactive chromosome X (Xi) and the subsequent initiation and maintenance of X-linked transcriptional gene silencing during X-inactivation (By similarity). Plays a role as a RNA polymerase II (Pol II) holoenzyme transcription regulator (PubMed:8174554, PubMed:9353307, PubMed:10490622, PubMed:15711563, PubMed:19617346, PubMed:23811339). Promotes transcription initiation by direct association with the core-TFIIH basal transcription factor complex for the assembly of a functional pre-initiation complex with Pol II in a actin-dependent manner (PubMed:10490622, PubMed:15711563). Blocks Pol II transcription elongation activity by inhibiting the C-terminal domain (CTD) phosphorylation of Pol II and dissociates from Pol II pre-initiation complex prior to productive transcription elongation (PubMed:10490622). Positively regulates CBX5-induced transcriptional gene silencing and retention of CBX5 in the nucleus (PubMed:19617346). Negatively regulates glucocorticoid-mediated transcriptional activation (PubMed:9353307). Key regulator of transcription initiation and elongation in embryonic stem cells upon leukemia inhibitory factor (LIF) signaling (By similarity). Involved in the long non-coding RNA H19-mediated Pol II transcriptional repression (PubMed:23811339). Participates in the circadian regulation of the core clock component ARNTL/BMAL1 transcription (By similarity). Plays a role in the regulation of telomere length (PubMed:18082603). Plays a role as a global pre-mRNA alternative splicing modulator by regulating U2 small nuclear ribonucleoprotein (snRNP) biogenesis (PubMed:22325991). Plays a role in mRNA stability (PubMed:17174306, PubMed:17289661, PubMed:19029303). Component of the CRD-mediated complex that promotes MYC mRNA stabilization (PubMed:19029303). Enhances the expression of specific genes, such as tumor necrosis factor TNFA, by regulating mRNA stability, possibly through binding to the 3'-untranslated region (UTR) (PubMed:17174306). Plays a role in mitotic cell cycle regulation (PubMed:21242313, PubMed:25986610). Involved in the formation of stable mitotic spindle microtubules (MTs) attachment to kinetochore, spindle organization and chromosome congression (PubMed:21242313). Phosphorylation at Ser-59 by PLK1 is required for chromosome alignement and segregation and progression through mitosis (PubMed:25986610). Contributes also to the targeting of AURKA to mitotic spindle MTs (PubMed:21242313). Binds to double- and single-stranded DNA and RNA, poly(A), poly(C) and poly(G) oligoribonucleotides (PubMed:1628625, PubMed:8068679, PubMed:8174554, PubMed:9204873, PubMed:9405365). Binds to chromatin-associated RNAs (caRNAs) (PubMed:28622508). Associates with chromatin to scaffold/matrix attachment region (S/MAR) elements in a chromatin-associated RNAs (caRNAs)-dependent manner (PubMed:7509195, PubMed:1324173, PubMed:9204873, PubMed:9405365, PubMed:10671544, PubMed:11003645, PubMed:11909954, PubMed:28622508). Binds to the Xist RNA (PubMed:26244333). Binds the long non-coding H19 RNA (PubMed:23811339). Binds to SMN1/2 pre-mRNAs at G/U-rich regions (PubMed:22325991). Binds to small nuclear RNAs (snRNAs) (PubMed:22325991). Binds to the 3'-UTR of TNFA mRNA (PubMed:17174306). Binds (via RNA-binding RGG-box region) to the long non-coding Xist RNA; this binding is direct and bridges the Xist RNA and the inactive chromosome X (Xi) (By similarity). Also negatively regulates embryonic stem cell differentiation upon LIF signaling (By similarity). Required for embryonic development (By similarity). Binds to brown fat long non-coding RNA 1 (Blnc1); facilitates the recruitment of Blnc1 by ZBTB7B required to drive brown and beige fat development and thermogenesis (By similarity).
UniProtKB/Swiss-Prot Function:
(Microbial infection) Negatively regulates immunodeficiency virus type 1 (HIV-1) replication by preventing the accumulation of viral mRNA transcripts in the cytoplasm.

Phenotypes From GWAS Catalog for HNRNPU Gene

Gene Ontology (GO) - Molecular Function for HNRNPU Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding ISS,IEA --
GO:0000993 RNA polymerase II complex binding IDA 10490622
GO:0001097 TFIIH-class transcription factor complex binding IDA 10490622
GO:0003677 DNA binding TAS,IDA 9204873
genes like me logo Genes that share ontologies with HNRNPU: view
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Human Phenotype Ontology for HNRNPU Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

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miRNA for HNRNPU Gene

miRTarBase miRNAs that target HNRNPU

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No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for HNRNPU Gene

Localization for HNRNPU Gene

Subcellular locations from UniProtKB/Swiss-Prot for HNRNPU Gene

Nucleus. Nucleus matrix. Chromosome. Nucleus speckle. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Chromosome, centromere, kinetochore. Cytoplasm, cytoskeleton, spindle. Cytoplasm, cytoskeleton, spindle pole. Midbody. Cytoplasm. Cell surface. Cytoplasmic granule. Note=Localizes at inactive X chromosome (Xi) regions (PubMed:11003645, PubMed:14608463, PubMed:15563465). Localizes in the nucleus during interphase (PubMed:21242313). At metaphase, localizes with mitotic spindle microtubules (MTs) (PubMed:21242313). At anaphase, localizes in the mitotic spindle midzone (PubMed:21242313). Localizes in spindle MTs proximal to spindle poles in a TPX2- and AURKA-dependent manner (PubMed:21242313). The Ser-59 phosphorylated form localizes to centrosomes during prophase and metaphase, to mitotic spindles in anaphase and to the midbody during cytokinesis (PubMed:25986610). Colocalizes with SMARCA4 in the nucleus (By similarity). Colocalizes with CBX5 in the nucleus (PubMed:19617346). Colocalizes with NR3C1 in nuclear speckles (PubMed:9353307). Localized in cytoplasmic ribonucleoprotein (RNP) granules containing untranslated mRNAs (PubMed:17289661). {ECO:0000250 UniProtKB:Q8VEK3, ECO:0000269 PubMed:11003645, ECO:0000269 PubMed:14608463, ECO:0000269 PubMed:15563465, ECO:0000269 PubMed:17289661, ECO:0000269 PubMed:19617346, ECO:0000269 PubMed:21242313, ECO:0000269 PubMed:25986610, ECO:0000269 PubMed:9353307}.

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 HNRNPU gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 3
plasma membrane 2
extracellular 2
mitochondrion 2
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for HNRNPU Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000228 nuclear chromosome IDA,IBA 11003645
GO:0000775 chromosome, centromeric region IEA --
GO:0000776 kinetochore IBA,IDA 21242313
GO:0000777 condensed chromosome kinetochore IEA --
GO:0000922 spindle pole IEA --
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Pathways & Interactions for HNRNPU Gene

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Pathways by source for HNRNPU Gene

2 BioSystems pathways for HNRNPU Gene
1 KEGG pathway for HNRNPU Gene

SIGNOR curated interactions for HNRNPU Gene

Is activated by:

Gene Ontology (GO) - Biological Process for HNRNPU Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IMP 9353307
GO:0000381 regulation of alternative mRNA splicing, via spliceosome IDA 22325991
GO:0000398 mRNA splicing, via spliceosome TAS --
GO:0001649 osteoblast differentiation HDA 16210410
GO:0006325 chromatin organization IEA --
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Drugs & Compounds for HNRNPU Gene

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(2) Drugs for HNRNPU Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for HNRNPU Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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Transcripts for HNRNPU Gene

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mRNA/cDNA for HNRNPU Gene

2 REFSEQ mRNAs :
21 NCBI additional mRNA sequence :
31 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

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Alternative Splicing Database (ASD) splice patterns (SP) for HNRNPU Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7a · 7b · 7c ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14a · 14b
SP1: - - - - -
SP2: - - - -
SP3: - - - -
SP4: -
SP5:
SP6:

Relevant External Links for HNRNPU Gene

GeneLoc Exon Structure for
HNRNPU

Expression for HNRNPU Gene

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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for HNRNPU Gene

mRNA expression in normal human tissues for HNRNPU Gene
mRNA expression by GTEx for HNRNPU GenemRNA expression by BioGPS for HNRNPU Gene

Protein differential expression in normal tissues from HIPED for HNRNPU Gene

This gene is overexpressed in Lymph node (10.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for HNRNPU Gene



Protein tissue co-expression partners for HNRNPU Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for HNRNPU

SOURCE GeneReport for Unigene cluster for HNRNPU Gene:

Hs.106212

mRNA Expression by UniProt/SwissProt for HNRNPU Gene:

Q00839-HNRPU_HUMAN
Tissue specificity: Widely expressed.

Evidence on tissue expression from TISSUES for HNRNPU Gene

  • Nervous system(4.9)
  • Blood(4.8)
  • Skin(4.8)
  • Liver(4.7)
  • Eye(4.6)
  • Lung(4.5)
  • Kidney(3.9)
  • Intestine(3.8)
  • Muscle(2.6)
  • Spleen(2.3)
  • Bone(2.2)
  • Bone marrow(2.2)
  • Heart(2.2)
  • Pancreas(2.2)
  • Lymph node(2.1)
  • Thyroid gland(2)
genes like me logo Genes that share expression patterns with HNRNPU: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for HNRNPU Gene

Orthologs for HNRNPU Gene

This gene was present in the common ancestor of animals.

Orthologs for HNRNPU Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia HNRNPU 31
  • 99 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia HNRNPU 31
  • 95 (a)
 OneToOne
cow
(Bos Taurus)
 Mammalia HNRNPU 31 30
  • 94.79 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia HNRNPU 31 30
  • 94.37 (n)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Hnrnpu 30
  • 92.31 (n)
mouse
(Mus musculus)
 Mammalia Hnrnpu 17 31 30
  • 92.03 (n)
oppossum
(Monodelphis domestica)
 Mammalia HNRNPU 31
  • 90 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves HNRNPU 31 30
  • 85.46 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia HNRNPU 31
  • 74 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia hnrnpu 30
  • 71.65 (n)
Str.7999 30
African clawed frog
(Xenopus laevis)
 Amphibia Xl.8951 30
zebrafish
(Danio rerio)
 Actinopterygii hnrnpub 31 30
  • 65.34 (n)
 OneToMany
hnrnpua 31
  • 53 (a)
 OneToMany
fruit fly
(Drosophila melanogaster)
 Insecta CG30122 31
  • 17 (a)
 OneToMany
worm
(Caenorhabditis elegans)
 Secernentea Y41E3.11 31
  • 8 (a)
 OneToMany
Species where no ortholog for HNRNPU 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)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)

Evolution for HNRNPU Gene

ENSEMBL:
Gene Tree for HNRNPU (if available)
TreeFam:
Gene Tree for HNRNPU (if available)
Aminode:
Evolutionary constrained regions (ECRs) for HNRNPU: view image

Paralogs for HNRNPU Gene

Paralogs for HNRNPU Gene

(4) SIMAP similar genes for HNRNPU Gene using alignment to 2 proteins:

  • HNRPU_HUMAN
  • Q5RI18_HUMAN
genes like me logo Genes that share paralogs with HNRNPU: view

Variants for HNRNPU Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HNRNPU Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
620055 Pathogenic: Epileptic encephalopathy, early infantile, 54 244,858,784(-) TCA/T NONSENSE
640405 Uncertain Significance: heterogeneous nuclear ribonucleoprotein G, human 244,863,628(-) G/A MISSENSE_VARIANT,INTRON_VARIANT
640469 Uncertain Significance: heterogeneous nuclear ribonucleoprotein G, human 244,857,620(-) T/C MISSENSE_VARIANT
640515 Uncertain Significance: heterogeneous nuclear ribonucleoprotein G, human 244,858,114(-) T/C MISSENSE_VARIANT
644677 Uncertain Significance: heterogeneous nuclear ribonucleoprotein G, human 244,863,867(-) G/C MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for HNRNPU Gene

Structural Variations from Database of Genomic Variants (DGV) for HNRNPU Gene

Variant ID Type Subtype PubMed ID
nsv549493 CNV gain 21841781
nsv549493 CNV gain 21841781

Variation tolerance for HNRNPU Gene

Residual Variation Intolerance Score: 14.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.21; 24.28% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HNRNPU Gene

Human Gene Mutation Database (HGMD)
HNRNPU
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HNRNPU

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HNRNPU Gene

Disorders for HNRNPU Gene

MalaCards: The human disease database

(8) MalaCards diseases for HNRNPU Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

HNRPU_HUMAN
  • Epileptic encephalopathy, early infantile, 54 (EIEE54) [MIM:617391]: A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. {ECO:0000269 PubMed:23708187, ECO:0000269 PubMed:25356899}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for HNRNPU

Genetic Association Database
(GAD)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with HNRNPU: view

No data available for Genatlas for HNRNPU Gene

Publications for HNRNPU Gene

  1. Purification of two isoforms of hnRNP-U and characterization of their nucleic acid binding activity. (PMID: 8068679) Fackelmayer FO … Richter A (Biochemistry 1994) 2 3 4 23 54
  2. hnRNP-U/SAF-A is encoded by two differentially polyadenylated mRNAs in human cells. (PMID: 7509195) Fackelmayer FO … Richter A (Biochimica et biophysica acta 1994) 2 3 4 23 54
  3. Physical and functional interaction between heterochromatin protein 1alpha and the RNA-binding protein heterogeneous nuclear ribonucleoprotein U. (PMID: 19617346) Ameyar-Zazoua M … Harel-Bellan A (The Journal of biological chemistry 2009) 3 4 23 54
  4. hnRNP-U enhances the expression of specific genes by stabilizing mRNA. (PMID: 17174306) Yugami M … Handa H (FEBS letters 2007) 3 4 23 54
  5. Inhibition of HIV-1 gene expression by a fragment of hnRNP U. (PMID: 16916646) Valente ST … Goff SP (Molecular cell 2006) 3 4 23 54

ExternalLinks

View latest publications for HNRNPU gene in Mastermind

Products for HNRNPU Gene