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

Gene ID: 8554, updated on 3-Nov-2024

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
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Genomic context

See PIAS1 in Genome Data Viewer
Location:
15q23
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (68054315..68193847)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (65875930..66012597)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (68346653..68486185)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:68132321-68133273 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:68133274-68134225 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:68138024-68138524 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:68138525-68139025 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:68145177-68145734 Neighboring gene OCT4-H3K27ac hESC enhancer GRCh37_chr15:68145735-68146290 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9636 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:68152060-68152560 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9637 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9638 Neighboring gene RNA, U6 small nuclear 1 Neighboring gene CRISPRi-validated cis-regulatory element chr15.1880 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:68210766-68211352 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_40776 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr15:68238558-68239757 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9639 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9640 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_40781 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:68260831-68261747 Neighboring gene ribosomal protein S15a pseudogene Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr15:68299513-68300103 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:68301209-68302094 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr15:68302095-68302980 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:68308948-68309655 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:68312077-68312615 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:68312616-68313153 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:68314382-68315165 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:68337310-68337830 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:68337831-68338350 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6583 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:68361989-68362489 Neighboring gene uncharacterized LOC105370871 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:68492859-68493630 Neighboring gene Sharpr-MPRA regulatory region 569 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6584 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:68503536-68504076 Neighboring gene calmodulin like 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9641 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9642 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:68521930-68522109 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9643 Neighboring gene CLN6 transmembrane ER protein Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:68549209-68549856 Neighboring gene uncharacterized LOC124903593 Neighboring gene high mobility group nucleosomal binding domain 2 pseudogene 40

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues 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

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • MGC141878, MGC141879

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
 
located_in chromatin IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
located_in glutamatergic synapse 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 
located_in postsynaptic cytosol IEA
Inferred from Electronic Annotation
more info
 
located_in presynaptic cytosol IEA
Inferred from Electronic Annotation
more info
 

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_047289153.1
XP_054235009.1
XP_054235010.1
XP_054235011.1
XP_054235012.1
XP_054235013.1

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)

  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/TrEMBL
    A4ZVS7
    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_016166.3NP_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:1145
    SAP; Putative DNA-binding (bihelical) motif predicted to be involved in chromosomal organisation
    cd16790
    Location:332379
    SP-RING_PIAS; SP-RING finger found in protein inhibitor of activated signal transducer and activator of transcription (PIAS) proteins
    pfam14324
    Location:137285
    PINIT; PINIT domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

    Range
    68054315..68193847
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    UniProtKB/TrEMBL
    A4ZVS7
    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. XM_011522126.3XP_011520428.1  E3 SUMO-protein ligase PIAS1 isoform X1

    UniProtKB/TrEMBL
    A4ZVS7
    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_017022689.2XP_016878178.1  E3 SUMO-protein ligase PIAS1 isoform X4

    UniProtKB/TrEMBL
    A4ZVS7
    Conserved Domains (3) summary
    smart00513
    Location:438
    SAP; Putative DNA-binding (bihelical) motif predicted to be involved in chromosomal organisation
    cd16790
    Location:325372
    SP-RING_PIAS; SP-RING finger found in protein inhibitor of activated signal transducer and activator of transcription (PIAS) proteins
    pfam14324
    Location:130278
    PINIT; PINIT domain
  4. XM_011522127.3XP_011520429.1  E3 SUMO-protein ligase PIAS1 isoform X3

    UniProtKB/TrEMBL
    A4ZVS7
    Conserved Domains (3) summary
    smart00513
    Location:539
    SAP; Putative DNA-binding (bihelical) motif predicted to be involved in chromosomal organisation
    cd16790
    Location:326373
    SP-RING_PIAS; SP-RING finger found in protein inhibitor of activated signal transducer and activator of transcription (PIAS) proteins
    pfam14324
    Location:131279
    PINIT; PINIT domain
  5. XM_047433197.1XP_047289153.1  E3 SUMO-protein ligase PIAS1 isoform X5

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060939.1 Alternate T2T-CHM13v2.0

    Range
    65875930..66012597
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054379034.1XP_054235009.1  E3 SUMO-protein ligase PIAS1 isoform X2

  2. XM_054379036.1XP_054235011.1  E3 SUMO-protein ligase PIAS1 isoform X4

  3. XM_054379035.1XP_054235010.1  E3 SUMO-protein ligase PIAS1 isoform X3

  4. XM_054379038.1XP_054235013.1  E3 SUMO-protein ligase PIAS1 isoform X5

  5. XM_054379037.1XP_054235012.1  E3 SUMO-protein ligase PIAS1 isoform X6