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

    Gene ID: 8554, updated on 27-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
    NEW
    Try the new Gene table
    Try the new Transcript table

    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
    • 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)

    NEW Try the new Transcript table

    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