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

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; AllianceGenome:HGNC:2752
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: mouse all
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Genomic context

Location:: 15q23

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	15	NC_000015.10 (68054315..68193847)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	15	NC_060939.1 (65875930..66012597)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (68346653..68486185)

Chromosome 15 - NC_000015.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Multi-omics integration identifies cell-state-specific repression by PBRM1-PIAS1 cooperation.
Title: Multi-omics integration identifies cell-state-specific repression by PBRM1-PIAS1 cooperation.
SUMOylation and coupling of eNOS mediated by PIAS1 contribute to maintenance of vascular homeostasis.
Title: SUMOylation and coupling of eNOS mediated by PIAS1 contribute to maintenance of vascular homeostasis.
SUMOylation of SMAD4 by PIAS1 in Conjunction with Vimentin Upregulation Promotes Migration Potential in Non-Small Cell Lung Cancer.
Title: SUMOylation of SMAD4 by PIAS1 in Conjunction with Vimentin Upregulation Promotes Migration Potential in Non-Small Cell Lung Cancer.
Crosstalk between SUMOylation and ubiquitylation controls DNA end resection by maintaining MRE11 homeostasis on chromatin.
Title: Crosstalk between SUMOylation and ubiquitylation controls DNA end resection by maintaining MRE11 homeostasis on chromatin.
A PIAS1 Protective Variant S510G Delays polyQ Disease Onset by Modifying Protein Homeostasis.
Title: A PIAS1 Protective Variant S510G Delays polyQ Disease Onset by Modifying Protein Homeostasis.
Roles of the SUMO-related enzymes, PIAS1, PIAS4, and RNF4, in DNA double-strand break repair by homologous recombination.
Title: Roles of the SUMO-related enzymes, PIAS1, PIAS4, and RNF4, in DNA double-strand break repair by homologous recombination.
Expression of PIAS Genes in Migraine Patients.
Title: Expression of PIAS Genes in Migraine Patients.
PIAS1 and TIF1gamma collaborate to promote SnoN SUMOylation and suppression of epithelial-mesenchymal transition.
Title: PIAS1 and TIF1γ collaborate to promote SnoN SUMOylation and suppression of epithelial-mesenchymal transition.
Linking nuclear matrix-localized PIAS1 to chromatin SUMOylation via direct binding of histones H3 and H2A.Z.
Title: Linking nuclear matrix-localized PIAS1 to chromatin SUMOylation via direct binding of histones H3 and H2A.Z.
Novel Variants of ELP2 and PIAS1 in the Interferon Gamma Signaling Pathway Are Associated with Non-Small Cell Lung Cancer Survival.
Title: Novel Variants of ELP2 and PIAS1 in the Interferon Gamma Signaling Pathway Are Associated with Non-Small Cell Lung Cancer Survival.

Submit: New GeneRIF Correction See all GeneRIFs (79)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-56913 (e-PCR)
- UniSTS:30239

D15S1092 (e-PCR)
- UniSTS:16681

SHGC-17413 (e-PCR)
- UniSTS:55598

RH75732 (e-PCR)
- UniSTS:92221

WI-15121 (e-PCR)
- UniSTS:7489

RH46223 (e-PCR)
- UniSTS:51034

RH45656 (e-PCR)
- UniSTS:35687

RH76483 (e-PCR)
- UniSTS:89980

RH99183 (e-PCR)
- UniSTS:86976

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription factor binding	IEA Inferred from Electronic Annotation more info
enables SUMO ligase activity	IBA Inferred from Biological aspect of Ancestor more info
enables SUMO ligase activity	IDA Inferred from Direct Assay more info	PubMed
enables SUMO transferase activity	EXP Inferred from Experiment more info	PubMed
enables SUMO transferase activity	TAS Traceable Author Statement more info
enables enzyme binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein domain specific binding	IEA Inferred from Electronic Annotation more info
enables transcription cis-regulatory region binding	ISS Inferred from Sequence or Structural Similarity more info
enables transcription coregulator activity	IBA Inferred from Biological aspect of Ancestor more info
enables transcription corepressor activity	TAS Traceable Author Statement more info	PubMed
enables ubiquitin protein ligase binding	IEA Inferred from Electronic Annotation more info
enables zinc ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in DNA damage response	IDA Inferred from Direct Assay more info	PubMed
involved_in G1/S transition of mitotic cell cycle	IEA Inferred from Electronic Annotation more info
involved_in cell surface receptor signaling pathway via JAK-STAT	TAS Traceable Author Statement more info	PubMed
involved_in fat cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of transcription by RNA polymerase II	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of DNA-templated transcription	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of proteasomal ubiquitin-dependent protein catabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of protein localization to cell periphery	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of protein sumoylation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of smooth muscle cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in protein sumoylation	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein sumoylation	IDA Inferred from Direct Assay more info	PubMed
involved_in protein sumoylation	IEA Inferred from Electronic Annotation more info
involved_in protein sumoylation	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein sumoylation	TAS Traceable Author Statement more info
involved_in protein-DNA complex assembly	IEA Inferred from Electronic Annotation more info
involved_in regulation of cell population proliferation	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in spermatogenesis	IEA Inferred from Electronic Annotation more info
involved_in 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
part_of chromatin	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
located_in nuclear periphery	ISS Inferred from Sequence or Structural Similarity more info
located_in nuclear speck	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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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

EC 2.3.2.27

NP_057250.1

EC 2.3.2.27

XP_011520428.1

EC 2.3.2.27

XP_011520429.1

EC 2.3.2.27

XP_016878177.1

EC 2.3.2.27

XP_016878178.1

EC 2.3.2.27

XP_047289153.1

EC 2.3.2.27

XP_054235009.1

EC 2.3.2.27

XP_054235010.1

EC 2.3.2.27

XP_054235011.1

EC 2.3.2.27

XP_054235012.1

EC 2.3.2.27

XP_054235013.1

EC 2.3.2.27

NCBI Reference Sequences (RefSeq)

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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)

NM_001320687.1 → NP_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/TrEMBL

A4ZVS7

Related

ENSP00000438574.1, ENST00000545237.1

Conserved Domains (3) summary

smart00513
Location:13 → 47

SAP; Putative DNA-binding (bihelical) motif predicted to be involved in chromosomal organisation

pfam02891
Location:333 → 381

zf-MIZ; MIZ/SP-RING zinc finger

pfam14324
Location:137 → 273

PINIT; PINIT domain
NM_016166.3 → NP_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, AF167160

Consensus CDS

CCDS45290.1

UniProtKB/Swiss-Prot

B2RB67, B3KSY9, C5J4B4, O75925, Q147X4, Q99751, Q9UN02

UniProtKB/TrEMBL

A4ZVS7

Related

ENSP00000249636.6, ENST00000249636.11

Conserved Domains (3) summary

smart00513
Location:11 → 45

SAP; Putative DNA-binding (bihelical) motif predicted to be involved in chromosomal organisation

cd16790
Location:332 → 379

SP-RING_PIAS; SP-RING finger found in protein inhibitor of activated signal transducer and activator of transcription (PIAS) proteins

pfam14324
Location:137 → 285

PINIT; PINIT domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000015.10 Reference GRCh38.p14 Primary Assembly

Range

68054315..68193847

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017022688.2 → XP_016878177.1 E3 SUMO-protein ligase PIAS1 isoform X2

UniProtKB/TrEMBL

A4ZVS7

Conserved Domains (3) summary

smart00513
Location:13 → 47

SAP; Putative DNA-binding (bihelical) motif predicted to be involved in chromosomal organisation

pfam02891
Location:333 → 381

zf-MIZ; MIZ/SP-RING zinc finger

pfam14324
Location:137 → 273

PINIT; PINIT domain
XM_011522126.3 → XP_011520428.1 E3 SUMO-protein ligase PIAS1 isoform X1

UniProtKB/TrEMBL

A4ZVS7

Conserved Domains (3) summary

smart00513
Location:20 → 54

SAP; Putative DNA-binding (bihelical) motif predicted to be involved in chromosomal organisation

pfam02891
Location:340 → 388

zf-MIZ; MIZ/SP-RING zinc finger

pfam14324
Location:144 → 280

PINIT; PINIT domain
XM_017022689.2 → XP_016878178.1 E3 SUMO-protein ligase PIAS1 isoform X4

UniProtKB/TrEMBL

A4ZVS7

Conserved Domains (3) summary

smart00513
Location:4 → 38

SAP; Putative DNA-binding (bihelical) motif predicted to be involved in chromosomal organisation

cd16790
Location:325 → 372

SP-RING_PIAS; SP-RING finger found in protein inhibitor of activated signal transducer and activator of transcription (PIAS) proteins

pfam14324
Location:130 → 278

PINIT; PINIT domain
XM_011522127.3 → XP_011520429.1 E3 SUMO-protein ligase PIAS1 isoform X3

UniProtKB/TrEMBL

A4ZVS7

Conserved Domains (3) summary

smart00513
Location:5 → 39

SAP; Putative DNA-binding (bihelical) motif predicted to be involved in chromosomal organisation

cd16790
Location:326 → 373

SP-RING_PIAS; SP-RING finger found in protein inhibitor of activated signal transducer and activator of transcription (PIAS) proteins

pfam14324
Location:131 → 279

PINIT; PINIT domain
XM_047433197.1 → XP_047289153.1 E3 SUMO-protein ligase PIAS1 isoform X5