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PLAG1 PLAG1 zinc finger [ Homo sapiens (human) ]

Gene ID: 5324, updated on 29-Mar-2020

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
109.20200228 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 Functions

What'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

Function Evidence Code Pubs
DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA-binding transcription activator activity, RNA polymerase II-specific IDA
Inferred from Direct Assay
more info
PubMed 
DNA-binding transcription factor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
RNA polymerase II proximal promoter sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
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
centrosome IDA
Inferred from Direct Assay
more info
 
cytosol IDA
Inferred from Direct Assay
more info
 
nuclear speck IDA
Inferred from Direct Assay
more info
 
nucleoplasm 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
    5028..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 Updated 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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