Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
8554
Gene name Gene Name - the full gene name approved by the HGNC.
Protein inhibitor of activated STAT 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PIAS1
Synonyms (NCBI Gene) Gene synonyms aliases
DDXBP1, GBP, GU/RH-II, ZMIZ3
Chromosome Chromosome number
15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
15q23
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the protein inhibitor of activated STAT (PIAS) family. PIAS proteins function as SUMO E3 ligases and play important roles in many cellular processes by mediating the sumoylation of target proteins. This protein plays a centra
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs774456004 C>T Likely-pathogenic 5 prime UTR variant, coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT003227 hsa-miR-424-5p Luciferase reporter assay 20065103
MIRT022246 hsa-miR-124-3p Proteomics;Microarray 18668037
MIRT547114 hsa-miR-4789-3p HITS-CLIP 21572407
MIRT547113 hsa-miR-5580-3p HITS-CLIP 21572407
MIRT707625 hsa-miR-340-5p HITS-CLIP 21572407
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000082 Process G1/S transition of mitotic cell cycle IEA
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000122 Process Negative regulation of transcription by RNA polymerase II ISS
GO:0000724 Process Double-strand break repair via homologous recombination IDA 10802669
GO:0000729 Process DNA double-strand break processing IDA 10802669, 15064416, 15790808, 26240375
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
603566 2752 ENSG00000033800
Protein
UniProt ID O75925
Protein name E3 SUMO-protein ligase PIAS1 (EC 2.3.2.-) (DEAD/H box-binding protein 1) (E3 SUMO-protein transferase PIAS1) (Gu-binding protein) (GBP) (Protein inhibitor of activated STAT protein 1) (RNA helicase II-binding protein)
Protein function Functions as an E3-type small ubiquitin-like modifier (SUMO) ligase, stabilizing the interaction between UBE2I and the substrate, and as a SUMO-tethering factor (PubMed:11583632, PubMed:11867732, PubMed:14500712, PubMed:21965678, PubMed:36050397
PDB 1V66
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF14324 PINIT 135 286 PINIT domain Domain
PF02891 zf-MIZ 331 380 MIZ/SP-RING zinc finger Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in numerous tissues with highest level in testis. {ECO:0000269|PubMed:11439351, ECO:0000269|PubMed:9177271}.
Sequence
MADSAELKQMVMSLRVSELQVLLGYAGRNKHGRKHELLTKALHLLKAGCSPAVQMKIKEL
YRRRFPQKIMTPADLSIPNVHSSPMPATLSPSTIPQLTYDGHPASSPLLPVSLLGPKHEL
ELPHLTSALHPVHPDIKLQKLPFYDLLDELIKPTSLASDNSQRFRETCFAFALTPQQVQQ
ISSSMDISGTKCDFTVQVQLRFCLSETSCPQEDHFPPNLCVKVNTKPCSLPGYLPPTKNG
VEPKRPSRPINITSLVRLSTTVPNTIVVSWTAEIGRNYSMAVYLVK
QLSSTVLLQRLRAK
GIRNPDHSRALIKEKLTADPDSEIATTSLRVSLLCPLGKMRLTIPCRALTCSHLQCFDAT
LYIQMNEKKPTWVCPVCDKK
APYEHLIIDGLFMEILKYCTDCDEIQFKEDGTWAPMRSKK
EVQEVSASYNGVDGCLSSTLEHQVASHHQSSNKNKKVEVIDLTIDSSSDEEEEEPSAKRT
CPSLSPTSPLNNKGILSLPHQASPVSRTPSLPAVDTSYINTSLIQDYRHPFHMTPMPYDL
QGLDFFPFLSGDNQHYNTSLLAAAAAAVSDDQDLLHSSRFFPYTSSQMFLDQLSAGGSTS
LPTTNGSSSGSNSSLVSSNSLRESHSHTVTNRSSTDTASIFGIIPDIISLD
Sequence length 651
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Ubiquitin mediated proteolysis
JAK-STAT signaling pathway
Hepatitis C
  SUMOylation of DNA damage response and repair proteins
SUMOylation of transcription factors
SUMOylation of ubiquitinylation proteins
SUMOylation of transcription cofactors
SUMOylation of intracellular receptors
SUMOylation of chromatin organization proteins
Formation of Incision Complex in GG-NER
Regulation of IFNG signaling
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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
Nephronophthisis nephronophthisis rs774456004 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
Colorectal Cancer Colorectal cancer N/A N/A GWAS
Uterine Fibroids Uterine fibroids N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 30717818
Breast Neoplasms Associate 28493978
Carcinogenesis Associate 22449952, 31639157
Carcinoma Non Small Cell Lung Associate 32493705, 37664931
Ciliopathies Associate 26489029
Colonic Neoplasms Associate 19074829
COVID 19 Associate 35231079
Cystic Fibrosis Stimulate 12948935
Epstein Barr Virus Infections Associate 29262325
Multiple Myeloma Stimulate 19965618