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 categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
871
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Developmental and epileptic encephalopathy, 1 Pathogenic rs1057524584 RCV001824767
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
RCV003104068
RCV003104066
RCV003104073
RCV002246157
RCV003314012
RCV001782258
RCV001785352
RCV001808909
RCV001843994
RCV002557685
RCV002553556
RCV002563628
RCV002561486
RCV002550445
RCV002052102
RCV002250048
RCV002250049
RCV002250050
RCV002250051
RCV002273907
RCV002466336
RCV002481166
RCV002481167
RCV002481169
RCV002481170
RCV002247599
RCV002825119
RCV002856945
RCV002842802
RCV002858053
RCV002917393
RCV002872428
RCV002967115
RCV002985588
RCV003038131
RCV000209838
RCV003127464
RCV003142363
RCV003142412
RCV003225912
RCV003153143
RCV002272203
RCV003230306
RCV003324243
RCV003333402
RCV003459004
RCV003592528
RCV003592699
RCV003592637
RCV003593290
RCV003591334
RCV003592165
RCV003757501
RCV003757529
RCV003757591
RCV003757603
RCV003757716
RCV003985175
RCV000445557
RCV000445561
RCV000445555
RCV002525546
RCV000496156
RCV000515619
RCV000754785
RCV000585859
RCV002533161
RCV002533238
RCV000677643
RCV002533731
RCV000760265
RCV000986582
RCV000986583
RCV002552514
RCV002563835
RCV001254081
RCV001254678
RCV003591851
RCV005622098
RCV001293774
Epileptic encephalopathy Pathogenic rs1135401734, rs1135401733, rs1135401732 RCV000496120
RCV000496151
RCV000496124
heterogeneous nuclear ribonucleoprotein G, human Pathogenic rs2102990539, rs1553283895 RCV001387637
RCV000639401
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autism spectrum disorder Likely benign rs2527877558 RCV003127463
Complex neurodevelopmental disorder Conflicting classifications of pathogenicity rs770670938 RCV005359677
Familial cancer of breast Likely benign rs140234240 RCV005900189
Gastric cancer Likely benign rs140234240 RCV005900190
Associations from Text MiningDisease 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