Gene Gene information from NCBI Gene database.
Entrez ID 3192
Gene name Heterogeneous nuclear ribonucleoprotein U
Gene symbol HNRNPU
Synonyms (NCBI Gene)
DEE54EIEE54GRIP120HNRNPU-AS1HNRPUSAF-ASAFAU21.1hnRNP Upp120
Chromosome 1
Chromosome location 1q44
Summary 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.
35
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.
834
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
148
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602869 5048 ENSG00000153187
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
30
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Developmental and epileptic encephalopathy, 1 Pathogenic rs1057524584 RCV001824767
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Developmental and epileptic encephalopathy, 54 Pathogenic; Likely pathogenic rs2102986749, rs2102990974, rs2102985115, rs2102987183, rs112081356, rs2102984978, rs2102985018, rs2102987155, rs779453109, rs2102987471, rs2102989374, rs2102987091, rs2102987181, rs2102985889, rs1680930166
View all (69 more)
RCV001374422
RCV001374423
RCV003104057
RCV002550245
RCV002550961
View all (80 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Epileptic encephalopathy Pathogenic rs1135401734, rs1135401733, rs1135401732 RCV000496120
RCV000496151
RCV000496124
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
heterogeneous nuclear ribonucleoprotein G, human Pathogenic rs2102990539, rs1553283895 RCV001387637
RCV000639401
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
1Q44 MICRODELETION SYNDROME Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autism spectrum disorder Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Complex neurodevelopmental disorder Conflicting classifications of pathogenicity ClinVar
ClinGen, GenCC
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 54 CTD, Disgenet, HPO
CTD, Disgenet, HPO
CTD, Disgenet, HPO
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
1q44 microdeletion syndrome 1q44 microdeletion syndrome ORPHANET_DG 28283832
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
1q44 microdeletion syndrome 1q44 microdeletion syndrome Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Acute encephalopathy with biphasic seizures and late reduced diffusion Encephalopathy With Biphasic Seizures And Diffusion BEFREE 29858110
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 9815576
★☆☆☆☆
Found in Text Mining only
Agenesis of corpus callosum Agenesis Of Corpus Callosum HPO_DG
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic lateral sclerosis Pubtator 29134320 Associate
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 29671412
★☆☆☆☆
Found in Text Mining only
Anxiety Anxiety Disorder BEFREE 29403425
★☆☆☆☆
Found in Text Mining only
Anxiety Disorders Anxiety Disorder BEFREE 29403425
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 31352174
★☆☆☆☆
Found in Text Mining only