Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3192
Gene name Gene Name - the full gene name approved by the HGNC.
Heterogeneous nuclear ribonucleoprotein U
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
HNRNPU
Synonyms (NCBI Gene) Gene synonyms aliases
DEE54, EIEE54, GRIP120, HNRNPU-AS1, HNRPU, SAF-A, SAFA, U21.1, hnRNP U, pp120
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q44
Summary Summary of gene provided in NCBI Entrez 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
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs779453109 GCCTTCCGCC>- Pathogenic Intron variant, frameshift variant, coding sequence variant
rs869312701 G>A Likely-pathogenic Coding sequence variant, stop gained
rs886041983 G>A Pathogenic Coding sequence variant, stop gained
rs1057520065 ->C Pathogenic Coding sequence variant, frameshift variant
rs1057524584 G>T Pathogenic Stop gained, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT005282 hsa-miR-1-3p pSILAC 18668040
MIRT005282 hsa-miR-1-3p Proteomics;Other 18668040
MIRT025868 hsa-miR-7-5p Sequencing 20371350
MIRT050837 hsa-miR-17-5p CLASH 23622248
MIRT050141 hsa-miR-26a-5p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IMP 9353307
GO:0000166 Function Nucleotide binding IEA
GO:0000228 Component Nuclear chromosome IDA 11003645
GO:0000380 Process Alternative mRNA splicing, via spliceosome IBA
GO:0000381 Process Regulation of alternative mRNA splicing, via spliceosome IDA 22325991
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
602869 5048 ENSG00000153187
Protein
UniProt ID Q00839
Protein name Heterogeneous nuclear ribonucleoprotein U (hnRNP U) (GRIP120) (Nuclear p120 ribonucleoprotein) (Scaffold-attachment factor A) (SAF-A) (p120) (pp120)
Protein 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 c
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02037 SAP 8 42 SAP domain Family
PF00622 SPRY 333 462 SPRY domain Family
PF13671 AAA_33 499 643 Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:7509195}.
Sequence
MSSSPVNVKKLKVSELKEELKKRRLSDKGLKAELMERLQAALDDEEAGGRPAMEPGNGSL
DLGGDSAGRSGAGLEQEAAAGGDEEEEEEEEEEEGISALDGDQMELGEENGAAGAADSGP
MEEEEAASEDENGDDQGFQEGEDELGDEEEGAGDENGHGEQQPQPPATQQQQPQQQRGAA
KEAAGKSSGPTSLFAVTVAPPGARQGQQQAGGKKKAEGGGGGGRPGAPAAGDGKTEQKGG
DKKRGVKRPREDHGRGYFEYIEENKYSRAKSPQPPVEEEDEHFDDTVVCLDTYNCDLHFK
ISRDRLSASSLTMESFAFLWAGGRASYGVSKGKVCFEMKVTEKIPVRHLYTKDIDIHEVR
IGWSLTTSGMLLGEEEFSYGYSLKGIKTCNCETEDYGEKFDENDVITCFANFESDEVELS
YAKNGQDLGVAFKISKEVLAGRPLFPHVLCHNCAVEFNFGQK
EKPYFPIPEEYTFIQNVP
LEDRVRGPKGPEEKKDCEVVMMIGLPGAGKTTWVTKHAAENPGKYNILGTNTIMDKMMVA
GFKKQMADTGKLNTLLQRAPQCLGKFIEIAARKKRNFILDQTNVSAAAQRRKMCLFAGFQ
RKAVVVCPKDEDYKQRTQKKAEVEGKDLPEHAVLKMKGNFTLP
EVAECFDEITYVELQKE
EAQKLLEQYKEESKKALPPEKKQNTGSKKSNKNKSGKNQFNRGGGHRGRGGFNMRGGNFR
GGAPGNRGGYNRRGNMPQRGGGGGGSGGIGYPYPRAPVFPGRGSYSNRGNYNRGGMPNRG
NYNQNFRGRGNNRGYKNQSQGYNQWQQGQFWGQKPWSQHYHQGYY
Sequence length 825
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Spliceosome   mRNA Splicing - Major Pathway
Processing of Capped Intron-Containing Pre-mRNA
<
Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Developmental And Epileptic Encephalopathy Developmental and epileptic encephalopathy, 54, Developmental and epileptic encephalopathy, 1 rs1057524915, rs1558188078, rs1057524916, rs1573330458, rs1553283951, rs1573337948, rs794729648, rs1135401794, rs1680716624, rs869312701, rs1553283899, rs1553282723, rs1553283916, rs886041983, rs1553284007
View all (4 more)
N/A
Epileptic encephalopathy epileptic encephalopathy rs1135401734, rs1135401733, rs1135401732 N/A
Mental retardation intellectual disability rs1553283831 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Neurodevelopmental Disorders complex neurodevelopmental disorder N/A N/A GenCC
Oligodendroglioma Oligodendroglioma N/A N/A GWAS
seizure Seizure N/A N/A ClinVar
Urothelial Carcinoma Bladder urothelial carcinoma Knockout of HNRNPU inhibited BUC progression by increasing cisplatin sensitivity 35130920 CBGDA
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Alcohol Related Disorders Associate 37120726
Amyotrophic Lateral Sclerosis Associate 29134320
Arrest of spermatogenesis Associate 33375868
Asthma Stimulate 33168013
Atrial Fibrillation Associate 33299500
Autism Spectrum Disorder Associate 28714951
Autistic Disorder Associate 37815090
Blood Coagulation Disorders Associate 32915499
Breast Neoplasms Associate 33495416, 36835467
Carcinoma Pancreatic Ductal Associate 29671412