Gene Gene information from NCBI Gene database.
Entrez ID 29855
Gene name Ubinuclein 1
Gene symbol UBN1
Synonyms (NCBI Gene)
VTVT4
Chromosome 16
Chromosome location 16p13.3
Summary Cellular senescence is a hallmark of tumor suppression and tissue aging. Senescent cells contain domains of heterochromatin, called senescence-associated heterochromatin foci (SAHF), that repress proliferation-promoting genes. The protein encoded by this
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs765004815 T>A Likely-pathogenic Genic downstream transcript variant, missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
339
miRTarBase ID miRNA Experiments Reference
MIRT017200 hsa-miR-335-5p Microarray 18185580
MIRT048870 hsa-miR-93-5p CLASH 23622248
MIRT040978 hsa-miR-18a-3p CLASH 23622248
MIRT040198 hsa-miR-615-3p CLASH 23622248
MIRT651940 hsa-miR-499a-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
17
GO ID Ontology Definition Evidence Reference
GO:0003677 Function DNA binding IEA
GO:0005515 Function Protein binding IPI 18823282, 19029251, 33961781
GO:0005634 Component Nucleus IBA
GO:0005634 Component Nucleus IDA 10725330
GO:0005634 Component Nucleus IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609771 12506 ENSG00000118900
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NPG3
Protein name Ubinuclein-1 (HIRA-binding protein) (Protein VT4) (Ubiquitously expressed nuclear protein)
Protein function Acts as a novel regulator of senescence. Involved in the formation of senescence-associated heterochromatin foci (SAHF), which represses expression of proliferation-promoting genes. Binds to proliferation-promoting genes. May be required for rep
PDB 4ZBJ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08729 HUN 117 168 HPC2 and ubinuclein domain Domain
PF14075 UBN_AB 353 573 Ubinuclein conserved middle domain Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. Also expressed in numerous tumors and cancer cell lines. {ECO:0000269|PubMed:10725330, ECO:0000269|PubMed:19029251}.
Sequence
MSEPHRVQFTSLPGSLNPAFLKKSRKEEAGAGEQHQDCEPAAAAVRITLTLFEPDHKRCP
EFFYPELVKNIRGKVKGLQPGDKKKDLSDPFNDEEKERHKVEALARKFEEKYGGKKRRKD
RIQDLIDMGYGYDESDSFIDNSEAYDELVPASLTTKYGGFYINSGTLQ
FRQASESEDDFI
KEKKKKSPKKRKLKEGGEKIKKKKKDDTYDKEKKSKKSKFSKAGFTALNASKEKKKKKYS
GALSVKEMLKKFQKEKEAQKKREEEHKPVAVPSAEAQGLRELEGASDPLLSLFGSTSDND
LLQAATAMDSLTDLDLEHLLSESPEGSPFRDMDDGSDSLGVGLDQEFRQPSSLPEGLPAP
LEKRVKELAQAARAAEGESRQKFFTQDINGILLDIEAQTRELSSQVRSGVYAYLASFLPC
SKDALLKRARKLHLYEQGGRLKEPLQKLKEAIGRAMPEQMAKYQDECQAHTQAKVAKMLE
EEKDKEQRDRICSDEEEDEEKGGRRIMGPRKKFQWNDEIRELLCQVVKIKLESQDLERNN
KAQAWEDCVKGFLDAEVKPLWPKGWMQARTLFK
ESRRGHGHLTSILAKKKVMAPSKIKVK
ESSTKPDKKVSVPSGQIGGPIALPSDHQTGGLSIGASSRELPSQASGGLANPPPVNLEDS
LDEDLIRNPASSVEAVSKELAALNSRAAGNSEFTLPAPSKAPAEKVGGVLCTEEKRNFAK
PSPSAPPPASSLQSPLNFLAEQALALGQSSQEKKPESSGYKELSCQAPLNKGLPEVHQSK
AKHHSLPRTSHGPQVAVPVPGPQVKVFHAGTQQQKNFTPPSPFANKLQGPKASPTQCHRS
LLQLVKTAAKGQGFHPSAPATSGGLSASSSSSHKTPASSSSALSHPAKPHSVSSAGSSYK
NNPFASSISKHGVSSGSSSSGGTPVQSSVSGSLVPGIQPPSVGQATSRPVPSSAGKKMPV
SQKLTLVAPPGGPNGDSSGGTQGVAKLLTSPSLKPSAVSSVTSSTSLSKGASGTVLLAGS
SLMASPYKSSSPKLSGAMSSNSLGIITPVPIPVHVLSFSADSSAKAGVSKDAIVTGPAPG
SFHHGLGHSLLAGLHSSPPHAAPLPHAAVPTHIPQSLPGASQLHGKGPAVPRKL
Sequence length 1134
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Formation of Senescence-Associated Heterochromatin Foci (SAHF)
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
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
Non-immune hydrops fetalis Likely pathogenic rs765004815 RCV000170572
★★★★☆
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
CARDIOVASCULAR DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HYDROPS FETALIS, NON-IMMUNE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME GWAS catalog
★★☆☆☆
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
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 18505686
★☆☆☆☆
Found in Text Mining only
Cardiovascular Diseases Cardiovascular Diseases GWASCAT_DG 30595370
★☆☆☆☆
Found in Text Mining only
Frontotemporal dementia Frontotemporal dementia BEFREE 18505686
★☆☆☆☆
Found in Text Mining only
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED Frontotemporal lobar degeneration with Tdp43 inclusions BEFREE 18505686
★☆☆☆☆
Found in Text Mining only
Hydrops Fetalis, Non-Immune Hydrops Fetalis CLINVAR_DG 26036949
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Malignant Neoplasms Malignant Neoplasm GWASCAT_DG 29299148
★☆☆☆☆
Found in Text Mining only
Multiple Endocrine Neoplasia Type 1 Multiple Endocrine Neoplasia BEFREE 25625803
★☆☆☆☆
Found in Text Mining only
Neoplasms Neoplasms BEFREE 25625803
★☆☆☆☆
Found in Text Mining only
Urinary Retention Urinary retention Pubtator 39222669 Associate
★☆☆☆☆
Found in Text Mining only