Version: 8.0.0
Date: Tue Jan 28 2025
HNRNPU
Homo sapiensHGNC:5048
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

HNRNPU

Species
Homo sapiens
Symbol
HNRNPU
Name
heterogeneous nuclear ribonucleoprotein U
Synonyms
  • C1orf199
  • DEE54
Biotype
protein coding gene
Automated Description
Enables several functions, including ATP binding activity; basal RNA polymerase II transcription machinery binding activity; and nucleic acid binding activity. Involved in several processes, including protein localization to organelle; regulation of cell cycle process; and regulation of macromolecule biosynthetic process. Located in several cellular components, including chromosome; microtubule cytoskeleton; and nuclear lumen. Part of CRD-mediated mRNA stability complex; cytosol; and nucleus. Implicated in developmental and epileptic encephalopathy 54. Biomarker of colorectal cancer.
RGD Description
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]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR12381
Stringency:
Additional filters to further constrain the results:
Species Gene symbol Count Best Best reverse
Method
Ensembl ComparaHGNCHieranoidInParanoidOMAOrthoFinderOrthoInspectorPANTHERPhylomeDBSonicParanoidXenbaseZFIN
Mus musculusHnrnpu10 of 10YesYes☑☑☑☑☑☑☑☑☑☑  
Rattus norvegicusHnrnpu10 of 10YesYes☑☑☑☑☑☑☑☑☑☑  
Xenopus laevishnrnpu.S1 of 1YesYes          ☑ 
Xenopus laevishnrnpu.L1 of 1YesYes          ☑ 
Xenopus tropicalishnrnpu9 of 9YesYes☑ ☑☑☑☑☑☑☑☑  
Xenopus tropicalisccdc85b9 of 9YesYes☑ ☑☑☑☑☑☑☑☑  
Danio reriohnrnpua10 of 10YesYes☑ ☑☑☑☑☑☑☑☑ ☑
Danio reriohnrnpub10 of 10YesYes☑ ☑☑☑☑☑☑☑☑ ☑
Drosophila melanogasterCG301228 of 9YesYes☑ ☑☑☑☑☑☑☐☑  
Caenorhabditis eleganshrpu-16 of 9YesYes☐ ☐☑☐☑☑☑☑☑  
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Gene symbolRank Alignment Length (aa) Similarity %Identity %Method Count
Method
Ensembl ComparaHGNCInParanoidOMAOrthoFinderOrthoInspectorPANTHERPhylomeDBSonicParanoidSGD
HNRNPUL1182557457 of 8☑ ☑☐☑☑☑☑☑ 
HNRNPUL2285056426 of 8☑ ☑☐☑☐☑☑☑ 

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources
Phenotype Term
Annotation details
References
Abnormal cardiac septum morphology
Absent speech
Agenesis of corpus callosum
Atonic seizure
Atypical absence seizure
Autosomal dominant inheritance
Bilateral tonic-clonic seizure
Biparietal narrowing
Delayed myelination
Delayed speech and language development
Showing 1 - 10 of 48 rows
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Disease Associations

Cases where the expected disease association was NOT found
Must provide at least one subject
Cell color indicative of annotation volume
Species
Gene
Association
Disease Qualifier
Disease
Evidence
Source
Based On
References
No records match query. Try removing filters.
Showing 0 - 0 of 0 rows
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    Alleles and Variants

    No mapped variant information available
    Allele/Variant Symbol
    Allele Synonyms
    Category
    Variant
    Variant type
    Molecular consequence
    Has Disease Annotations
    Has Phenotype Annotations
    NC_000001.11:g.244855443T>Cvariant
    SNP
    • missense variant
    NC_000001.11:g.244855566G>Avariant
    SNP
    • missense variant
    NC_000001.11:g.244855884A>Cvariant
    SNP
    • intron variant
    NC_000001.11:g.244855889T>Gvariant
    SNP
    • intron variant
    NC_000001.11:g.244856137A>Tvariant
    SNP
    • missense variant
    NC_000001.11:g.244856142T>Gvariant
    SNP
    • synonymous variant
    NC_000001.11:g.244856161G>Avariant
    SNP
    • splice region variant
    NC_000001.11:g.244856422A>Tvariant
    SNP
    • intron variant
    NC_000001.11:g.244856517G>Avariant
    SNP
    • stop gained
    NC_000001.11:g.244856544T>Cvariant
    SNP
    • missense variant
    Showing 1 - 10 of 866 rows
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    View detailed Alleles/Variants information
    Download all Alleles/Variants for all genes of the species

    Transgenic Alleles

    Species
    (carrying the transgene)
    Allele symbol
    Transgenic construct
    Expressed components
    Knock-down targets
    Regulatory regions
    Has Disease Annotations
    Has Phenotype Annotations
    Drosophila melanogasterHsap\HNRNPUUAS.Tag:HA
    PBac{UAS-hHNRNPU.HA}
    • UASt
    Showing 1 - 1 of 1 rows
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    Models

    No data available

    Sequence Feature Viewer

    Genome location
    Assembly version
    GRCh38
    Viewer Help
    Data currently unavailable; sequence viewer under construction

    Sequence Details

    Loading...

    Expression

    Primary Sources
    None
    Other Sources
    Must provide at least one subject
    Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

    Molecular Interactions

    1004 interactor genes based on 1345 annotations
    HNRNPU molecule type
    Interactor gene
    Interactor species
    Interactor molecule type
    Detection methods
    Source
    Reference
    protein
    		AAR2Homo sapiens
    protein
    • affinity chromatography technology
    		PMID:28515276
    protein
    		AATFHomo sapiens
    protein
    • affinity chromatography technology
    		PMID:26496610
    protein
    		ABCF1Homo sapiens
    protein
    • biochemical
    		PMID:22863883
    protein
    		ABCF2Homo sapiens
    protein
    • biochemical
    		PMID:35831314
    protein
    		ACBD3Homo sapiens
    protein
    • biochemical
    		PMID:35831314
    protein
    		ACE2Homo sapiens
    protein
    • affinity chromatography technology
    		PMID:36057605
    protein
    		ACE2Homo sapiens
    protein
    • affinity chromatography technology
    		PMID:36584595
    protein
    		ACE2Homo sapiens
    protein
    • affinity chromatography technology
    		PMID:37640791
    protein
    		ACSL4Homo sapiens
    protein
    • cross-linking study
    		PMID:34349018
    protein
    		ACTBHomo sapiens
    protein
    • pull down
    		PMID:18710935
    Showing 1 - 10 of 1,340 rows
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    Genetic Interactions

    HNRNPU role
    HNRNPU genetic perturbation
    Interactor gene
    Interactor species
    Interactor role
    Interactor genetic perturbation
    Interaction type
    Phenotype or trait
    Source
    Reference
    suppressor gene
    		ATG3Homo sapiens
    suppressed gene
    phenotypic suppression (sensu BioGRID)
    		PMID:33226137
    unspecified role
    		EGFRHomo sapiens
    unspecified role
    negative genetic interaction (sensu BioGRID)
    • Growth abnormality, viability
    		PMID:34373451
    unspecified role
    		GBF1Homo sapiens
    unspecified role
    positive genetic interaction (sensu BioGRID)
    • Growth abnormality, viability
    		PMID:36305789
    unspecified role
    		KRASHomo sapiens
    unspecified role
    negative genetic interaction (sensu BioGRID)
    • Growth abnormality, viability
    		PMID:34373451
    unspecified role
    		RIT1Homo sapiens
    unspecified role
    negative genetic interaction (sensu BioGRID)
    • Growth abnormality, viability
    		PMID:34373451
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