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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
- SAF-A 2 3 4
- 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
- U21.1 3 4
- Pp120 3 4
- SAFA 3 4
- HNRNPU Antisense RNA 1 (Non-Protein Coding) 2
External Ids for HNRNPU Gene
- HGNC: 5048
- Entrez Gene: 3192
- Ensembl: ENSG00000153187
- OMIM: 602869
- UniProtKB: Q00839
Previous HGNC Symbols for HNRNPU Gene
- HNRPU
- HNRNPU-AS1
- C1orf199
- NCRNA00201
Previous GeneCards Identifiers for HNRNPU Gene
- GC01M243081
- GC01M245013
- GC01M215396
- GC01M244850
Summaries 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 Gene Expression and mRNA Splicing - Major Pathway. 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.
Additional gene information for HNRNPU Gene
- HGNC(5048)
- Entrez Gene(3192)
- Ensembl(ENSG00000153187)
- OMIM(602869)
- UniProtKB(Q00839)
- Open Targets Platform(ENSG00000153187)
- Monarch Initiative
- Search for HNRNPU at DataMed
- Search for HNRNPU at HumanCyc
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 Pubs
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 the GeneHancer Hub at the UCSC Golden Path
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:
-
- 1q44 by HGNC
- 1q44 by Entrez Gene
- 1q44 by Ensembl
HNRNPU Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for HNRNPU Gene
Proteins for HNRNPU Gene
-
Protein details for HNRNPU Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q00839-HNRPU_HUMAN
- Recommended name:
- Heterogeneous nuclear ribonucleoprotein U
- Protein Accession:
- Q00839
- 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};
Protein Expression for HNRNPU Gene
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
- NX_Q00839 (NX_Q00839-1)
- Modification sites at PhosphoSitePlus
Other Protein References for HNRNPU Gene
- ENSEMBL proteins:
-
- ENSP00000482621
- ENSP00000492010
- ENSP00000491685
- ENSP00000479468
- ENSP00000393151
- ENSP00000491215
- ENSP00000410728
- ENSP00000491340
- ENSP00000491601
- ENSP00000490988
- ENSP00000283179
- ENSP00000491305
- ENSP00000491903
- ENSP00000491294
- ENSP00000492620
- ENSP00000491807
- ENSP00000491491
- ENSP00000492573
- ENSP00000491263
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for HNRNPU
- Invitrogen Antibodies for HNRNPU (AFLGC-Hnrnpu)
-
Biorbyt antibodies for HNRNPU
-
Santa Cruz Biotechnology (SCBT) Antibodies for HNRNPU
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for HNRNPU
- Origene Custom Protein Services for HNRNPU
- antibodies-online: Show 5 available HNRNPU Proteins ranked by validation data
- Compare Top HNRNPU Proteins
-
Quality Products:
-
Signalway Proteins for HNRNPU
-
Abcam proteins for HNRNPU
Assay Products
-
Signalway ELISA kits for HNRNPU
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
- InterPro:
- Blocks:
-
- DNA-binding SAP
- 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
Q00839UniProtKB/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).
Function for HNRNPU Gene
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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000166 | nucleotide binding | IEA | -- |
| GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | IEA,ISS | -- |
| GO:0000993 | RNA polymerase II complex binding | IDA | 10490622 |
| GO:0001097 | TFIIH-class transcription factor complex binding | IBA,IDA | 10490622 |
| GO:0003677 | DNA binding | TAS,IDA | 9204873 |
Phenotypes for HNRNPU Gene
- MGI mutant phenotypes for HNRNPU:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for HNRNPU:
-
- no effect
- Decreased centriole number
- Decreased viability
- Increased gamma-H2AX phosphorylation
- Negative genetic interaction between KRASG13D/+ and KRAS+/-
- shRNA abundance <= 25%
- Increased endosome-nucleus distance (endosomes dispersed in the cell periphery)
- Decreased influenza A virus infection
- Decreased HIV-LTR-beta-galactosidase protein expression
- Increased S DNA content
- Increased hepcidin::fluc mRNA expression
- Increased transcriptional activity
- Decreased POU5F1-GFP protein expression
- Decreased interferon-beta reporter expression
- Decreased OCT4 protein expression
- Decreased NANOG protein expression
- S arrest
- Increased HPV16-GFP infection
- Increased SMN2 exon 7 inclusion
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for HNRNPU - Select products 50% OFF >
- * HNRNPU CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for HNRNPU
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for HNRNPU
-
Santa Cruz Biotechnology (SCBT) CRISPR for HNRNPU
miRNA for HNRNPU Gene
- miRTarBase miRNAs that target HNRNPU
-
- hsa-miR-1-3p (MIRT005282)
- mmu-miR-136-5p (MIRT015077)
- hsa-miR-7-5p (MIRT025868)
- hsa-miR-615-3p (MIRT039706)
- hsa-miR-186-5p (MIRT045256)
- hsa-miR-149-5p (MIRT045483)
- hsa-miR-27b-3p (MIRT046200)
- hsa-miR-30c-5p (MIRT047974)
- hsa-miR-26a-5p (MIRT050141)
- hsa-miR-17-5p (MIRT050837)
- hsa-miR-493-3p (MIRT113132)
- hsa-miR-3611 (MIRT113135)
- hsa-miR-548g-3p (MIRT135069)
- hsa-miR-548av-3p (MIRT135086)
- hsa-let-7c-3p (MIRT186644)
- hsa-miR-3668 (MIRT475549)
- hsa-miR-3163 (MIRT475550)
- hsa-miR-577 (MIRT475551)
- hsa-miR-5683 (MIRT475552)
- hsa-miR-6732-3p (MIRT475553)
- hsa-miR-3662 (MIRT475554)
- hsa-miR-7850-5p (MIRT511443)
- hsa-miR-578 (MIRT511444)
- hsa-miR-620 (MIRT511445)
- hsa-miR-1270 (MIRT511446)
- hsa-miR-4531 (MIRT511447)
- hsa-miR-3924 (MIRT511448)
- hsa-miR-539-5p (MIRT511449)
- hsa-miR-6505-3p (MIRT511450)
- hsa-miR-4277 (MIRT511451)
- hsa-miR-5094 (MIRT511452)
- hsa-miR-584-3p (MIRT511453)
- hsa-miR-329-5p (MIRT511454)
- hsa-miR-7159-3p (MIRT523148)
- hsa-miR-3678-3p (MIRT523149)
- hsa-miR-198 (MIRT523150)
- hsa-miR-2467-3p (MIRT523151)
- hsa-miR-320e (MIRT523152)
- hsa-miR-3133 (MIRT523153)
- hsa-miR-6835-3p (MIRT523154)
- hsa-miR-190a-3p (MIRT547916)
- hsa-miR-5011-5p (MIRT547917)
- hsa-miR-34a-3p (MIRT547918)
- hsa-miR-5692a (MIRT547919)
- hsa-miR-410-3p (MIRT547920)
- hsa-miR-4516 (MIRT547921)
- hsa-miR-5703 (MIRT547922)
- hsa-miR-4434 (MIRT547923)
- hsa-miR-548x-3p (MIRT557197)
- hsa-miR-548aq-3p (MIRT557198)
- hsa-miR-548aj-3p (MIRT557199)
- hsa-miR-548ae-3p (MIRT557200)
- hsa-miR-3613-3p (MIRT557201)
- hsa-miR-551b-5p (MIRT557202)
- hsa-miR-548c-3p (MIRT557203)
- hsa-miR-6809-3p (MIRT706075)
- hsa-miR-4753-3p (MIRT706076)
- hsa-miR-517c-3p (MIRT706077)
- hsa-miR-517b-3p (MIRT706078)
- hsa-miR-517a-3p (MIRT706079)
- hsa-miR-2117 (MIRT706080)
- hsa-miR-597-3p (MIRT706081)
- hsa-miR-8077 (MIRT706082)
- hsa-miR-7160-5p (MIRT706083)
- hsa-miR-4663 (MIRT706084)
- hsa-miR-6086 (MIRT706085)
- hsa-miR-377-5p (MIRT706086)
- hsa-miR-655-5p (MIRT706087)
- hsa-miR-642b-3p (MIRT706088)
- hsa-miR-642a-3p (MIRT706089)
- hsa-miR-7162-3p (MIRT706090)
- hsa-miR-6730-3p (MIRT706091)
- hsa-miR-4536-3p (MIRT706092)
- hsa-miR-4728-3p (MIRT706093)
- hsa-miR-888-3p (MIRT706094)
- hsa-miR-30e-3p (MIRT725409)
- hsa-miR-30d-3p (MIRT725410)
- hsa-miR-30a-3p (MIRT725411)
- hsa-miR-3942-3p (MIRT725412)
- hsa-miR-5100 (MIRT725413)
- hsa-miR-1245b-3p (MIRT725414)
- hsa-miR-501-5p (MIRT725415)
- hsa-miR-19b-3p (MIRT727486)
- hsa-miR-19a-3p (MIRT727487)
- hsa-let-7a-3p (MIRT735561)
- hsa-let-7b-3p (MIRT735590)
- hsa-let-7f-1-3p (MIRT735698)
- hsa-let-7f-2-3p (MIRT735701)
- hsa-miR-101-3p (MIRT735794)
- hsa-miR-1185-1-3p (MIRT735906)
- hsa-miR-1185-2-3p (MIRT735908)
- hsa-miR-1233-5p (MIRT736239)
- hsa-miR-144-3p (MIRT737624)
- hsa-miR-16-1-3p (MIRT737971)
- hsa-miR-2113 (MIRT738921)
- hsa-miR-30c-1-3p (MIRT739818)
- hsa-miR-30c-2-3p (MIRT739861)
- hsa-miR-3154 (MIRT740411)
- hsa-miR-3945 (MIRT743182)
- hsa-miR-4265 (MIRT743502)
- hsa-miR-4296 (MIRT743797)
- hsa-miR-4322 (MIRT744035)
- hsa-miR-4648 (MIRT746460)
- hsa-miR-4654 (MIRT746624)
- hsa-miR-4761-3p (MIRT748496)
- hsa-miR-4769-5p (MIRT748653)
- hsa-miR-4789-5p (MIRT748899)
- hsa-miR-5007-3p (MIRT749426)
- hsa-miR-5010-3p (MIRT749484)
- hsa-miR-5689 (MIRT751198)
- hsa-miR-6731-5p (MIRT754006)
- hsa-miR-6759-5p (MIRT754900)
- hsa-miR-6770-5p (MIRT755277)
- hsa-miR-6778-5p (MIRT755435)
- hsa-miR-6788-5p (MIRT755970)
- hsa-miR-6796-5p (MIRT756158)
- hsa-miR-6878-5p (MIRT758207)
- hsa-miR-8085 (MIRT760209)
- hsa-miR-942-3p (MIRT760857)
- hsa-miR-98-3p (MIRT760930)
miRNA Products
Inhibitory RNA Products
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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}.
| 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 |
- Nucleoplasm (4)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000228 | nuclear chromosome | IBA,IDA | 11003645 |
| GO:0000775 | chromosome, centromeric region | IEA | -- |
| GO:0000776 | kinetochore | IBA,IDA | 21242313 |
| GO:0000777 | condensed chromosome kinetochore | IEA | -- |
| GO:0000922 | spindle pole | IEA | -- |
Pathways & Interactions for HNRNPU Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | mRNA Splicing - Major Pathway |
.79
|
.47
.41
|
| 2 | Gene Expression |
.48
|
|
| 3 | Circadian rythm related genes | ||
Pathways by source for HNRNPU Gene
2 BioSystems pathways for HNRNPU Gene
4 Reactome pathways for HNRNPU Gene
1 KEGG pathway for HNRNPU Gene
Interacting Proteins for HNRNPU Gene
Selected Interacting proteins:
Q00839-HNRPU_HUMAN
ENSP00000283179
for HNRNPU Gene via
MINT
STRING
UniProtKB
IID
GPS-Prot Interaction Network for HNRNPU
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000122 | negative regulation of transcription by RNA polymerase II | IBA,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 | -- |
Transcripts for HNRNPU Gene
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 :
-
- ENST00000283179 3120 nts (view in UCSC)
- ENST00000366525 2851 nts (view in UCSC)
- ENST00000366527 12852 nts (view in UCSC)
- ENST00000440865 3207 nts (view in UCSC)
- ENST00000444376 6827 nts (view in UCSC)
CRISPR Products
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Santa Cruz Biotechnology (SCBT) CRISPR for HNRNPU
miRNA Products
Inhibitory RNA Products
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Clone Products
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| 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
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
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for HNRNPU
SOURCE GeneReport for Unigene cluster for HNRNPU Gene:
Hs.106212mRNA 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)
- Skin(4.9)
- Blood(4.8)
- Liver(4.8)
- Eye(4.7)
- Lung(4.6)
- Kidney(4.2)
- Intestine(4.2)
- Muscle(3.2)
- Heart(3.1)
- Bone(2.9)
- Spleen(2.9)
- Pancreas(2.8)
- Bone marrow(2.8)
- Thyroid gland(2.6)
- Lymph node(2.6)
- Stomach(2.5)
- Adrenal gland(2.4)
Primer Products
-
OriGene qPCR primer pairs for HNRNPU
-
OriGene qPCR primer pairs and template standards for HNRNPU
Gene Expression Assay Products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | HNRNPU 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | HNRNPU 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | HNRNPU 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | HNRNPU 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Hnrnpu 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Hnrnpu 30 17 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | HNRNPU 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | HNRNPU 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | HNRNPU 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | hnrnpu 30 |
|
||
| Str.7999 30 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.8951 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | hnrnpub 30 31 |
|
OneToMany | |
| hnrnpua 31 |
|
OneToMany | |||
| Fruit Fly (Drosophila melanogaster) |
Insecta | CG30122 31 |
|
OneToMany | |
| Worm (Caenorhabditis elegans) |
Secernentea | Y41E3.11 31 |
|
OneToMany |
- Species where no ortholog for HNRNPU was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (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
Variants for HNRNPU Gene
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 | Benign: 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 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HNRNPU Gene
Disorders for HNRNPU Gene
(7) MalaCards diseases for HNRNPU Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| epileptic encephalopathy, early infantile, 54 |
|
|
| visual epilepsy |
|
|
| alacrima, achalasia, and mental retardation syndrome |
|
|
| 1q44 microdeletion syndrome |
|
|
| transient neonatal thrombocytopenia |
|
|
Search HNRNPU in MalaCards
View complete list of genes associated with diseases
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
- Open Targets Platform
No data available for Genatlas for HNRNPU Gene
Publications for HNRNPU Gene
- 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
- 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
- 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
- hnRNP-U enhances the expression of specific genes by stabilizing mRNA. (PMID: 17174306) Yugami M … Handa H (FEBS letters 2007) 3 4 23
- Inhibition of HIV-1 gene expression by a fragment of hnRNP U. (PMID: 16916646) Valente ST … Goff SP (Molecular cell 2006) 3 4 23
ExternalLinks
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- Biorbyt antibodies for HNRNPU
Sources for HNRNPU Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4)