Format

Send to:

Choose Destination

PIAS1 protein inhibitor of activated STAT 1 [ Homo sapiens (human) ]

Gene ID: 8554, updated on 11-Sep-2019

Summary

Official Symbol
PIAS1provided by HGNC
Official Full Name
protein inhibitor of activated STAT 1provided by HGNC
Primary source
HGNC:HGNC:2752
See related
Ensembl:ENSG00000033800 MIM:603566
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
GBP; ZMIZ3; DDXBP1; GU/RH-II
Summary
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 central role as a transcriptional coregulator of numerous cellular pathways includign the STAT1 and nuclear factor kappaB pathways. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
Expression
Ubiquitous expression in thyroid (RPKM 10.0), ovary (RPKM 9.9) and 25 other tissues See more
Orthologs

Genomic context

See PIAS1 in Genome Data Viewer
Location:
15q23
Exon count:
20
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (68054179..68191464)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (68346572..68483797)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 1 Neighboring gene ribosomal protein S15a pseudogene Neighboring gene uncharacterized LOC105370871 Neighboring gene Sharpr-MPRA regulatory region 569 Neighboring gene calmodulin like 4 Neighboring gene CLN6 transmembrane ER protein

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies.
NHGRI GWA Catalog

Pathways from BioSystems

  • Androgen receptor signaling pathway, organism-specific biosystem (from WikiPathways)
    Androgen receptor signaling pathway, organism-specific biosystemAndrogens, mainly testosterone and 5alpha-dihydrotestosterone (DHT) play significant role in the growth and development of the male reproductive organs. These steroid hormones bring about their biolo...
  • Coregulation of Androgen receptor activity, organism-specific biosystem (from Pathway Interaction Database)
    Coregulation of Androgen receptor activity, organism-specific biosystem
    Coregulation of Androgen receptor activity
  • Cytokine Signaling in Immune system, organism-specific biosystem (from REACTOME)
    Cytokine Signaling in Immune system, organism-specific biosystemCytokines are small proteins that regulate and mediate immunity, inflammation, and hematopoiesis. They are secreted in response to immune stimuli, and usually act briefly, locally, at very low concen...
  • DNA Repair, organism-specific biosystem (from REACTOME)
    DNA Repair, organism-specific biosystemDNA repair is a phenomenal multi-enzyme, multi-pathway system required to ensure the integrity of the cellular genome. Living organisms are constantly exposed to harmful metabolic by-products, enviro...
  • Endoderm Differentiation, organism-specific biosystem (from WikiPathways)
    Endoderm Differentiation, organism-specific biosystemModel depicting endoderm specification based on the literature and highly enriched gene expression profiles via comparison across dozens of independent induced and embryonic pluripotent stem cell lin...
  • Formation of Incision Complex in GG-NER, organism-specific biosystem (from REACTOME)
    Formation of Incision Complex in GG-NER, organism-specific biosystemAfter the XPC complex and the UV-DDB complex bind damaged DNA, a basal transcription factor TFIIH is recruited to the nucleotide excision repair (NER) site (Volker et al. 2001, Riedl et al. 2003). DN...
  • Global Genome Nucleotide Excision Repair (GG-NER), organism-specific biosystem (from REACTOME)
    Global Genome Nucleotide Excision Repair (GG-NER), organism-specific biosystemThe DNA damage in GG-NER is recognized by the joint action of two protein complexes. The first complex is composed of XPC, RAD23A or RAD23B and CETN2. The second complex, known as the UV-DDB complex,...
  • Hedgehog signaling events mediated by Gli proteins, organism-specific biosystem (from Pathway Interaction Database)
    Hedgehog signaling events mediated by Gli proteins, organism-specific biosystem
    Hedgehog signaling events mediated by Gli proteins
  • Hepatitis C, organism-specific biosystem (from KEGG)
    Hepatitis C, organism-specific biosystemHepatitis C virus (HCV) is a major cause of chronic liver disease. The HCV employ several strategies to perturb host cell immunity. After invasion, HCV RNA genome functions directly as an mRNA in the...
  • Hepatitis C, conserved biosystem (from KEGG)
    Hepatitis C, conserved biosystemHepatitis C virus (HCV) is a major cause of chronic liver disease. The HCV employ several strategies to perturb host cell immunity. After invasion, HCV RNA genome functions directly as an mRNA in the...
  • IFN-gamma pathway, organism-specific biosystem (from Pathway Interaction Database)
    IFN-gamma pathway, organism-specific biosystem
    IFN-gamma pathway
  • IL6-mediated signaling events, organism-specific biosystem (from Pathway Interaction Database)
    IL6-mediated signaling events, organism-specific biosystem
    IL6-mediated signaling events
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Integrated Breast Cancer Pathway, organism-specific biosystem (from WikiPathways)
    Integrated Breast Cancer Pathway, organism-specific biosystemThis pathway incorporates the most important proteins for Breast Cancer. The Rp score from the Connectivity-Maps (C-Maps) webserver was used to determine the rank of the most important proteins in Br...
  • Integrated Pancreatic Cancer Pathway, organism-specific biosystem (from WikiPathways)
    Integrated Pancreatic Cancer Pathway, organism-specific biosystemAn integrated pathway model which displays the protein-protein interactions (PPIs) among the relevant proteins for pancreatic cancer. This pathway is a collection of different mechanistic protein pat...
  • Interferon Signaling, organism-specific biosystem (from REACTOME)
    Interferon Signaling, organism-specific biosystemInterferons (IFNs) are cytokines that play a central role in initiating immune responses, especially antiviral and antitumor effects. There are three types of IFNs:Type I (IFN-alpha, -beta and others...
  • Interferon gamma signaling, organism-specific biosystem (from REACTOME)
    Interferon gamma signaling, organism-specific biosystemInterferon-gamma (IFN-gamma) belongs to the type II interferon family and is secreted by activated immune cells-primarily T and NK cells, but also B-cells and APC. INFG exerts its effect on cells by ...
  • Interferon type I signaling pathways, organism-specific biosystem (from WikiPathways)
    Interferon type I signaling pathways, organism-specific biosystemThe type I IFNs (IFN? family, IFN?, IFN?, IFN? and IFN?) all bind to and signal via the type I IFN receptor complex. The type I receptor consists of two main IFNAR1, IFNAR2c receptor chains and other...
  • Interleukin-11 Signaling Pathway, organism-specific biosystem (from WikiPathways)
    Interleukin-11 Signaling Pathway, organism-specific biosystemIL-11 is a multifunctional cytokine that belongs to the gp130 family. It was first isolated from a primate bone marrow derived cell line, PU-34 for its ability to stimulate the proliferation of a pla...
  • Jak-STAT signaling pathway, organism-specific biosystem (from KEGG)
    Jak-STAT signaling pathway, organism-specific biosystemThe Janus kinase/signal transducers and activators of transcription (JAK/STAT) pathway is one of a handful of pleiotropic cascades used to transduce a multitude of signals for development and homeost...
  • Jak-STAT signaling pathway, conserved biosystem (from KEGG)
    Jak-STAT signaling pathway, conserved biosystemThe Janus kinase/signal transducers and activators of transcription (JAK/STAT) pathway is one of a handful of pleiotropic cascades used to transduce a multitude of signals for development and homeost...
  • Mesodermal Commitment Pathway, organism-specific biosystem (from WikiPathways)
    Mesodermal Commitment Pathway, organism-specific biosystemModel depicting mesodermal specification based on the literature and highly enriched gene expression profiles via comparison across dozens of independent induced and embryonic pluripotent stem cell l...
  • Metabolism of proteins, organism-specific biosystem (from REACTOME)
    Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
  • Nucleotide Excision Repair, organism-specific biosystem (from REACTOME)
    Nucleotide Excision Repair, organism-specific biosystemNucleotide excision repair (NER) was first described in the model organism E. coli in the early 1960s as a process whereby bulky base damage is enzymatically removed from DNA, facilitating the recove...
  • Post-translational protein modification, organism-specific biosystem (from REACTOME)
    Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
  • Regulation of IFNG signaling, organism-specific biosystem (from REACTOME)
    Regulation of IFNG signaling, organism-specific biosystemAt least three different classes of negative regulators exist to control the extent of INFG stimulation and signaling. These include the feedback inhibitors belonging to protein family suppressors of...
  • SUMO E3 ligases SUMOylate target proteins, organism-specific biosystem (from REACTOME)
    SUMO E3 ligases SUMOylate target proteins, organism-specific biosystemSUMO proteins are conjugated to lysine residues of target proteins via an isopeptide bond with the C-terminal glycine of SUMO (reviewed in Zhao 2007, Gareau and Lima 2010, Hannoun et al. 2010, Citro ...
  • SUMOylation, organism-specific biosystem (from REACTOME)
    SUMOylation, organism-specific biosystemSmall Ubiquitin-like MOdifiers (SUMOs) are a family of 3 proteins (SUMO1,2,3) that are reversibly conjugated to lysine residues of target proteins via a glycine-lysine isopeptide bond (reviewed in Ha...
  • SUMOylation of DNA damage response and repair proteins, organism-specific biosystem (from REACTOME)
    SUMOylation of DNA damage response and repair proteins, organism-specific biosystemSeveral factors that participate in DNA damage response and repair are SUMOylated (reviewed in Dou et al. 2011, Bekker-Jensen and Mailand 2011, Ulrich 2012, Psakhye and Jentsch 2012, Bologna and Ferr...
  • SUMOylation of chromatin organization proteins, organism-specific biosystem (from REACTOME)
    SUMOylation of chromatin organization proteins, organism-specific biosystemSUMOylation of proteins involved in chromatin organization regulates gene expression in several ways: direct influence on catalytic activity of enzymes that modify chromatin, recruitment of proteins...
  • SUMOylation of transcription factors, organism-specific biosystem (from REACTOME)
    SUMOylation of transcription factors, organism-specific biosystemProteins classified as transcription factors constitute a disproportionate number of SUMOylation targets. In most cases SUMOylation inhibits transcriptional activation, however in some cases such as ...
  • Signaling events mediated by TCPTP, organism-specific biosystem (from Pathway Interaction Database)
    Signaling events mediated by TCPTP, organism-specific biosystem
    Signaling events mediated by TCPTP
  • Sumoylation by RanBP2 regulates transcriptional repression, organism-specific biosystem (from Pathway Interaction Database)
    Sumoylation by RanBP2 regulates transcriptional repression, organism-specific biosystem
    Sumoylation by RanBP2 regulates transcriptional repression
  • TGF-beta Signaling Pathway, organism-specific biosystem (from WikiPathways)
    TGF-beta Signaling Pathway, organism-specific biosystemThe signal transduction mechanisms underlying the pathophysiological activities of transforming growth factor-? (TGF-?) have been extensively studied since its discovery nearly 30 years ago. TGF-? li...
  • Ubiquitin mediated proteolysis, organism-specific biosystem (from KEGG)
    Ubiquitin mediated proteolysis, organism-specific biosystemProtein ubiquitination plays an important role in eukaryotic cellular processes. It mainly functions as a signal for 26S proteasome dependent protein degradation. The addition of ubiquitin to protein...
  • Ubiquitin mediated proteolysis, conserved biosystem (from KEGG)
    Ubiquitin mediated proteolysis, conserved biosystemProtein ubiquitination plays an important role in eukaryotic cellular processes. It mainly functions as a signal for 26S proteasome dependent protein degradation. The addition of ubiquitin to protein...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC141878, MGC141879

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding IEA
Inferred from Electronic Annotation
more info
 
RNA polymerase II transcription factor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
SUMO ligase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
SUMO ligase activity IDA
Inferred from Direct Assay
more info
PubMed 
SUMO transferase activity EXP
Inferred from Experiment
more info
PubMed 
androgen receptor binding NAS
Non-traceable Author Statement
more info
PubMed 
enzyme binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein C-terminus binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein domain specific binding IEA
Inferred from Electronic Annotation
more info
 
transcription coactivator activity NAS
Non-traceable Author Statement
more info
PubMed 
transcription coregulator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transcription corepressor activity TAS
Traceable Author Statement
more info
PubMed 
ubiquitin protein ligase binding IEA
Inferred from Electronic Annotation
more info
 
zinc ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
G1/S transition of mitotic cell cycle IEA
Inferred from Electronic Annotation
more info
 
JAK-STAT cascade TAS
Traceable Author Statement
more info
PubMed 
androgen receptor signaling pathway NAS
Non-traceable Author Statement
more info
PubMed 
fat cell differentiation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of apoptotic process IEA
Inferred from Electronic Annotation
more info
 
negative regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
positive regulation of proteasomal ubiquitin-dependent protein catabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of protein sumoylation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of smooth muscle cell differentiation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription, DNA-templated NAS
Non-traceable Author Statement
more info
PubMed 
protein sumoylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein sumoylation IDA
Inferred from Direct Assay
more info
PubMed 
protein sumoylation IEA
Inferred from Electronic Annotation
more info
 
protein sumoylation ISS
Inferred from Sequence or Structural Similarity
more info
 
protein sumoylation TAS
Traceable Author Statement
more info
 
protein-DNA complex assembly IEA
Inferred from Electronic Annotation
more info
 
regulation of cell proliferation ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of interferon-gamma-mediated signaling pathway TAS
Traceable Author Statement
more info
 
regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
spermatogenesis IEA
Inferred from Electronic Annotation
more info
 
visual learning IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
colocalizes_with PML body ISS
Inferred from Sequence or Structural Similarity
more info
 
nuclear speck IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
E3 SUMO-protein ligase PIAS1
Names
AR interacting protein
DEAD/H (Asp-Glu-Ala-Asp/His) box binding protein 1
DEAD/H box-binding protein 1
E3 SUMO-protein transferase PIAS1
RNA helicase II-binding protein
gu-binding protein
protein inhibitor of activated STAT protein 1
zinc finger, MIZ-type containing 3
NP_001307616.1
NP_057250.1
XP_011520428.1
XP_011520429.1
XP_016878177.1
XP_016878178.1
XP_016878179.1
XP_016878180.1
XP_024305862.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001320687.1NP_001307616.1  E3 SUMO-protein ligase PIAS1 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AA837658, AC107871, AC135628, AK094641
    Consensus CDS
    CCDS81902.1
    UniProtKB/Swiss-Prot
    O75925
    Related
    ENSP00000438574.1, ENST00000545237.1
    Conserved Domains (3) summary
    smart00513
    Location:1347
    SAP; Putative DNA-binding (bihelical) motif predicted to be involved in chromosomal organisation
    pfam02891
    Location:333381
    zf-MIZ; MIZ/SP-RING zinc finger
    pfam14324
    Location:137273
    PINIT; PINIT domain
  2. NM_016166.2NP_057250.1  E3 SUMO-protein ligase PIAS1 isoform 2

    See identical proteins and their annotated locations for NP_057250.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate 5' structure which results in a distinct 5' UTR and 5' coding region compared to variant 1. The encoded isoform (2) is shorter and has a distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AA837658, AC107871, AC135628, AF167160
    Consensus CDS
    CCDS45290.1
    UniProtKB/Swiss-Prot
    O75925
    Related
    ENSP00000249636.6, ENST00000249636.10
    Conserved Domains (3) summary
    smart00513
    Location:1145
    SAP; Putative DNA-binding (bihelical) motif predicted to be involved in chromosomal organisation
    pfam14324
    Location:137271
    PINIT; PINIT domain
    cd16790
    Location:332379
    SP-RING_PIAS; SP-RING finger found in protein inhibitor of activated signal transducer and activator of transcription (PIAS) proteins

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p13 Primary Assembly

    Range
    68054179..68191464
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024450094.1XP_024305862.1  E3 SUMO-protein ligase PIAS1 isoform X6

    Conserved Domains (2) summary
    pfam14324
    Location:987
    PINIT; PINIT domain
    cd16790
    Location:148195
    SP-RING_PIAS; SP-RING finger found in protein inhibitor of activated signal transducer and activator of transcription (PIAS) proteins
  2. XM_011522126.2XP_011520428.1  E3 SUMO-protein ligase PIAS1 isoform X1

    Conserved Domains (3) summary
    smart00513
    Location:2054
    SAP; Putative DNA-binding (bihelical) motif predicted to be involved in chromosomal organisation
    pfam02891
    Location:340388
    zf-MIZ; MIZ/SP-RING zinc finger
    pfam14324
    Location:144280
    PINIT; PINIT domain
  3. XM_017022689.1XP_016878178.1  E3 SUMO-protein ligase PIAS1 isoform X4

  4. XM_011522127.2XP_011520429.1  E3 SUMO-protein ligase PIAS1 isoform X3

    Conserved Domains (3) summary
    smart00513
    Location:539
    SAP; Putative DNA-binding (bihelical) motif predicted to be involved in chromosomal organisation
    pfam02891
    Location:325373
    zf-MIZ; MIZ/SP-RING zinc finger
    pfam14324
    Location:129265
    PINIT; PINIT domain
  5. XM_017022688.1XP_016878177.1  E3 SUMO-protein ligase PIAS1 isoform X2

    UniProtKB/Swiss-Prot
    O75925
    Conserved Domains (3) summary
    smart00513
    Location:1347
    SAP; Putative DNA-binding (bihelical) motif predicted to be involved in chromosomal organisation
    pfam02891
    Location:333381
    zf-MIZ; MIZ/SP-RING zinc finger
    pfam14324
    Location:137273
    PINIT; PINIT domain
  6. XM_017022690.1XP_016878179.1  E3 SUMO-protein ligase PIAS1 isoform X5

    UniProtKB/TrEMBL
    Q1XBU8
    Conserved Domains (3) summary
    smart00513
    Location:236
    SAP; Putative DNA-binding (bihelical) motif predicted to be involved in chromosomal organisation
    cd16790
    Location:323370
    SP-RING_PIAS; SP-RING finger found in protein inhibitor of activated signal transducer and activator of transcription (PIAS) proteins
    pfam14324
    Location:128261
    PINIT; PINIT domain
  7. XM_017022691.2XP_016878180.1  E3 SUMO-protein ligase PIAS1 isoform X5

    UniProtKB/TrEMBL
    Q1XBU8
    Conserved Domains (3) summary
    smart00513
    Location:236
    SAP; Putative DNA-binding (bihelical) motif predicted to be involved in chromosomal organisation
    cd16790
    Location:323370
    SP-RING_PIAS; SP-RING finger found in protein inhibitor of activated signal transducer and activator of transcription (PIAS) proteins
    pfam14324
    Location:128261
    PINIT; PINIT domain
Support Center