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    PLAG1 PLAG1 zinc finger [ Homo sapiens (human) ]

    Gene ID: 5324, updated on 17-Jun-2019

    Summary

    Official Symbol
    PLAG1provided by HGNC
    Official Full Name
    PLAG1 zinc fingerprovided by HGNC
    Primary source
    HGNC:HGNC:9045
    See related
    Ensembl:ENSG00000181690 MIM:603026
    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; 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

    Genomic context

    See PLAG1 in Genome Data Viewer
    Location:
    8q12.1
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (56160909..56211327, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (57073463..57123859, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene nucleophosmin 1 pseudogene 21 Neighboring gene MOS proto-oncogene, serine/threonine kinase Neighboring gene coiled-coil-helix-coiled-coil-helix domain containing 7 Neighboring gene short chain dehydrogenase/reductase family 16C member 5

    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 FunctionsWhat's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Pleomorphic adenoma of salivary gland
    MedGen: C1519176 OMIM: 181030 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    gland morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    multicellular organism growth IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of gene expression IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of glial cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    prostate gland growth IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of transcription, DNA-templated IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    nuclear speck IDA
    Inferred from Direct Assay
    more info
     
    nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    General protein information

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

    Genomic

    1. NG_023310.1 RefSeqGene

      Range
      5001..55392
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001114634.2NP_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
      Q6DJT9
      UniProtKB/TrEMBL
      A0A024R7Z0
      Related
      ENSP00000416537.2, ENST00000429357.2
      Conserved Domains (2) summary
      COG5189
      Location:58139
      SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
      sd00017
      Location:3656
      ZF_C2H2; C2H2 Zn finger [structural motif]
    2. NM_001114635.2NP_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/Swiss-Prot
      Q6DJT9
      Related
      ENSP00000404067.2, ENST00000423799.6
      Conserved Domains (3) summary
      COG5236
      Location:15154
      COG5236; Uncharacterized conserved protein, contains RING Zn-finger [General function prediction only]
      sd00017
      Location:7090
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:1032
      zf-C2H2; Zinc finger, C2H2 type
    3. NM_002655.3NP_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
      Q6DJT9
      UniProtKB/TrEMBL
      A0A024R7Z0
      Related
      ENSP00000325546.3, ENST00000316981.8
      Conserved Domains (2) summary
      COG5189
      Location:58139
      SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
      sd00017
      Location:3656
      ZF_C2H2; C2H2 Zn finger [structural motif]

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

      Range
      56160909..56211327 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017013577.1XP_016869066.1  zinc finger protein PLAG1 isoform X2

      UniProtKB/Swiss-Prot
      Q6DJT9
      Conserved Domains (3) summary
      COG5236
      Location:15154
      COG5236; Uncharacterized conserved protein, contains RING Zn-finger [General function prediction only]
      sd00017
      Location:7090
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:1032
      zf-C2H2; Zinc finger, C2H2 type
    2. XM_011517544.2XP_011515846.1  zinc finger protein PLAG1 isoform X2

      See identical proteins and their annotated locations for XP_011515846.1

      UniProtKB/Swiss-Prot
      Q6DJT9
      Conserved Domains (3) summary
      COG5236
      Location:15154
      COG5236; Uncharacterized conserved protein, contains RING Zn-finger [General function prediction only]
      sd00017
      Location:7090
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:1032
      zf-C2H2; Zinc finger, C2H2 type
    3. XM_017013576.1XP_016869065.1  zinc finger protein PLAG1 isoform X1

      UniProtKB/Swiss-Prot
      Q6DJT9
      UniProtKB/TrEMBL
      A0A024R7Z0
      Conserved Domains (2) summary
      COG5189
      Location:58139
      SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
      sd00017
      Location:3656
      ZF_C2H2; C2H2 Zn finger [structural motif]
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