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    PLAG1 PLAG1 zinc finger [ Homo sapiens (human) ]

    Gene ID: 5324, updated on 27-Nov-2024

    Summary

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    Official Symbol
    PLAG1provided by HGNC
    Official Full Name
    PLAG1 zinc fingerprovided by HGNC
    Primary source
    HGNC:HGNC:9045
    See related
    Ensembl:ENSG00000181690 MIM:603026; AllianceGenome:HGNC:9045
    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
    PSA; SGPA; SRS4; ZNF912
    Summary
    Pleomorphic adenoma gene 1 encodes a zinc finger protein with 2 putative nuclear localization signals. PLAG1, which is developmentally regulated, has been shown to be consistently rearranged in pleomorphic adenomas of the salivary glands. PLAG1 is activated by the reciprocal chromosomal translocations involving 8q12 in a subset of salivary gland pleomorphic adenomas. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in ovary (RPKM 1.7), spleen (RPKM 1.3) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PLAG1 in Genome Data Viewer
    Location:
    8q12.1
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (56160909..56211273, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (56537883..56588262, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (57073468..57123832, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:57025920-57026420 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:57030128-57030628 Neighboring gene uncharacterized LOC124900263 Neighboring gene MOS proto-oncogene, serine/threonine kinase Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:57054775-57055317 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19210 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr8:57079228-57080427 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27399 Neighboring gene MPRA-validated peak7026 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr8:57124219-57124444 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27400 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:57126097-57126596 Neighboring gene coiled-coil-helix-coiled-coil-helix domain containing 7 Neighboring gene MPRA-validated peak7027 silencer Neighboring gene NANOG hESC enhancer GRCh37_chr8:57208438-57208939 Neighboring gene short chain dehydrogenase/reductase family 16C member 5

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. Increased beta-cell mass by islet transplantation and PLAG1 overexpression causes hyperinsulinemic normoglycemia and hepatic insulin resistance in mice. Declercq J, et al. Diabetes, 2010 Aug. PMID 20522588, Free PMC Article
    2. Clinicopathological effect of PLAG1 fusion genes in pleomorphic adenoma and carcinoma ex pleomorphic adenoma with special emphasis on histological features. Asahina M, et al. Histopathology, 2019 Feb. PMID 30307055
    3. Mutations in microRNA processing genes in Wilms tumors derepress the IGF2 regulator PLAG1. Chen KS, et al. Genes Dev, 2018 Aug 1. PMID 30026293, Free PMC Article
    4. Salivary gland tumors in transgenic mice with targeted PLAG1 proto-oncogene overexpression. Declercq J, et al. Cancer Res, 2005 Jun 1. PMID 15930271
    5. Wnt pathway is involved in pleomorphic adenomas induced by overexpression of PLAG1 in transgenic mice. Zhao X, et al. Int J Cancer, 2006 Feb 1. PMID 16108035

    See all (103) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. PLAG1 interacts with GPX4 to conquer vulnerability to sorafenib induced ferroptosis through a PVT1/miR-195-5p axis-dependent manner in hepatocellular carcinoma.
      Title: PLAG1 interacts with GPX4 to conquer vulnerability to sorafenib induced ferroptosis through a PVT1/miR-195-5p axis-dependent manner in hepatocellular carcinoma.
    2. SOX10-Internal Tandem Duplications and PLAG1 or HMGA2 Fusions Segregate Eccrine-Type and Apocrine-Type Cutaneous Mixed Tumors.
      Title: SOX10-Internal Tandem Duplications and PLAG1 or HMGA2 Fusions Segregate Eccrine-Type and Apocrine-Type Cutaneous Mixed Tumors.
    3. Pleomorphic adenoma with extensive squamous and mucinous metaplasia and a novel MALAT1::PLAG1 fusion gene.
      Title: Pleomorphic adenoma with extensive squamous and mucinous metaplasia and a novel MALAT1::PLAG1 fusion gene.
    4. PLAG1 dampens protein synthesis to promote human hematopoietic stem cell self-renewal.
      Title: PLAG1 dampens protein synthesis to promote human hematopoietic stem cell self-renewal.
    5. Pleomorphic adenoma: detection of PLAG1 rearrangement-positive tumor components using whole-slide fluorescence in situ hybridization.
      Title: Pleomorphic adenoma: detection of PLAG1 rearrangement-positive tumor components using whole-slide fluorescence in situ hybridization.
    6. Some pleomorphic adenomas of the breast share PLAG1 rearrangements with the analogous tumour of the salivary glands.
      Title: Some pleomorphic adenomas of the breast share PLAG1 rearrangements with the analogous tumour of the salivary glands.
    7. Malignant transformation of salivary gland pleomorphic adenoma: proof of principle.
      Title: Malignant transformation of salivary gland pleomorphic adenoma: proof of principle.
    8. Pediatric fibromyxoid soft tissue tumor with PLAG1 fusion: A novel entity?
      Title: Pediatric fibromyxoid soft tissue tumor with PLAG1 fusion: A novel entity?
    9. Recent advances in smooth muscle tumors with PGR and PLAG1 gene fusions and myofibroblastic uterine neoplasms.
      Title: Recent advances in smooth muscle tumors with PGR and PLAG1 gene fusions and myofibroblastic uterine neoplasms.
    10. The histological and molecular spectrum of lipoblastoma: A case series with identification of three novel gene fusions by targeted RNA-sequencing.
      Title: The histological and molecular spectrum of lipoblastoma: A case series with identification of three novel gene fusions by targeted RNA-sequencing.
    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

    Associated conditions

    Description Tests
    Pleomorphic adenoma of salivary gland
    MedGen: C1519176 OMIM: 181030 GeneReviews: Not available
    		Compare labs
    Silver-russell syndrome 4
    MedGen: C5394450 OMIM: 618907 GeneReviews: Silver-Russell Syndrome
    		not available

    EBI GWAS Catalog

    Description
    A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci.
    EBI GWAS Catalog
    A large-scale genome-wide association study of Asian populations uncovers genetic factors influencing eight quantitative traits.
    EBI GWAS Catalog
    Hundreds of variants clustered in genomic loci and biological pathways affect human height.
    EBI GWAS Catalog
    Identification of 15 loci influencing height in a Korean population.
    EBI GWAS Catalog
    Many sequence variants affecting diversity of adult human height.
    EBI GWAS Catalog
    Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
    EBI GWAS Catalog
    Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size.
    EBI GWAS Catalog

    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

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription activator activity, RNA polymerase II-specific IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables DNA-binding transcription factor activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in gland morphogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in multicellular organism growth IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of gene expression IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of gene expression IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of glial cell proliferation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in prostate gland growth IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of DNA-templated transcription IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nuclear speck IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    zinc finger protein PLAG1
    Names
    COL1A2/PLAG1 fusion
    HAS2/PLAG1 fusion
    pleiomorphic adenoma gene 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.

    Genomic

    1. NG_023310.1 RefSeqGene

      Range
      5028..55392
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001114634.2 → NP_001108106.1  zinc finger protein PLAG1 isoform a

      See identical proteins and their annotated locations for NP_001108106.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same isoform.
      Source sequence(s)
      AC107952, DC347559, U65002
      Consensus CDS
      CCDS6165.1
      UniProtKB/Swiss-Prot
      B4DLC2, Q59GH8, Q6DJT9, Q9Y4L2
      UniProtKB/TrEMBL
      B2R968
      Related
      ENSP00000416537.2, ENST00000429357.2
      Conserved Domains (3) summary
      COG5189
      Location:58 → 139
      SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
      sd00017
      Location:36 → 56
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:79 → 103
      zf-H2C2_2; Zinc-finger double domain

    2. NM_001114635.2 → NP_001108107.1  zinc finger protein PLAG1 isoform b

      See identical proteins and their annotated locations for NP_001108107.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (b) is shorter at the N-terminus compared to isoform a.
      Source sequence(s)
      AC107952, DC347559
      Consensus CDS
      CCDS47860.1
      UniProtKB/TrEMBL
      B2R968
      Related
      ENSP00000404067.2, ENST00000423799.6
      Conserved Domains (4) summary
      COG5236
      Location:15 → 154
      COG5236; Uncharacterized conserved protein, contains RING Zn-finger [General function prediction only]
      sd00017
      Location:70 → 90
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:10 → 32
      zf-C2H2; Zinc finger, C2H2 type
      cd20908
      Location:10 → 58
      SUF4-like; N-terminal domain of Oryza sativa transcription factor SUPPRESSOR OF FRI 4 (OsSUF4), Arabidopsis thaliana SUF4 (AtSUF4), and similar proteins

    3. NM_002655.3 → NP_002646.2  zinc finger protein PLAG1 isoform a

      See identical proteins and their annotated locations for NP_002646.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a). Variants 1 and 2 both encode the same isoform.
      Source sequence(s)
      AC107952, U65002
      Consensus CDS
      CCDS6165.1
      UniProtKB/Swiss-Prot
      B4DLC2, Q59GH8, Q6DJT9, Q9Y4L2
      UniProtKB/TrEMBL
      B2R968
      Related
      ENSP00000325546.3, ENST00000316981.8
      Conserved Domains (3) summary
      COG5189
      Location:58 → 139
      SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
      sd00017
      Location:36 → 56
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:79 → 103
      zf-H2C2_2; Zinc-finger double 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_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      56160909..56211273 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017013576.2 → XP_016869065.1  zinc finger protein PLAG1 isoform X1

      UniProtKB/Swiss-Prot
      B4DLC2, Q59GH8, Q6DJT9, Q9Y4L2
      UniProtKB/TrEMBL
      B2R968
      Conserved Domains (3) summary
      COG5189
      Location:58 → 139
      SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
      sd00017
      Location:36 → 56
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:79 → 103
      zf-H2C2_2; Zinc-finger double domain

    2. XM_047421866.1 → XP_047277822.1  zinc finger protein PLAG1 isoform X2

    3. XM_047421867.1 → XP_047277823.1  zinc finger protein PLAG1 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      56537883..56588262 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054360657.1 → XP_054216632.1  zinc finger protein PLAG1 isoform X1

    2. XM_054360658.1 → XP_054216633.1  zinc finger protein PLAG1 isoform X2

    3. XM_054360659.1 → XP_054216634.1  zinc finger protein PLAG1 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6DJT9.1 GenPept UniProtKB/Swiss-Prot:Q6DJT9

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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