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PLAG1 PLAG1 zinc finger [ Homo sapiens (human) ]

Gene ID: 5324, updated on 3-Apr-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
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Genomic context

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Location:
8q12.1
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (56160909..56211273, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (56537883..56588262, complement)
105.20220307 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. PLAG1 dampens protein synthesis to promote human hematopoietic stem cell self-renewal. Keyvani Chahi A, et al. Blood, 2022 Sep 1. PMID 35639948, Free PMC Article
  2. Pleomorphic adenoma: detection of PLAG1 rearrangement-positive tumor components using whole-slide fluorescence in situ hybridization. Murase T, et al. Hum Pathol, 2022 Feb. PMID 34906590
  3. The histological and molecular spectrum of lipoblastoma: A case series with identification of three novel gene fusions by targeted RNA-sequencing. Gerhard-Hartmann E, et al. Pathol Res Pract, 2021 Oct. PMID 34455363
  4. Some pleomorphic adenomas of the breast share PLAG1 rearrangements with the analogous tumour of the salivary glands. Ma S, et al. Histopathology, 2021 Dec. PMID 34292619
  5. Further heterogeneity in Silver-Russell syndrome: PLAG1 deletion in association with a complex chromosomal rearrangement. Brereton RE, et al. Am J Med Genet A, 2021 Oct. PMID 34223693

See all (99) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. Malignant transformation of salivary gland pleomorphic adenoma: proof of principle.
    Title: Malignant transformation of salivary gland pleomorphic adenoma: proof of principle.
  7. Pediatric fibromyxoid soft tissue tumor with PLAG1 fusion: A novel entity?
    Title: Pediatric fibromyxoid soft tissue tumor with PLAG1 fusion: A novel entity?
  8. 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.
  9. 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.
  10. Further heterogeneity in Silver-Russell syndrome: PLAG1 deletion in association with a complex chromosomal rearrangement.
    Title: Further heterogeneity in Silver-Russell syndrome: PLAG1 deletion in association with a complex chromosomal rearrangement.
Submit: New GeneRIF Correction See all GeneRIFs (78)

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
Compare labs

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)

Genotypes

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_2023_10

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

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