PLAG1 PLAG1 zinc finger [Homo sapiens (human)] - Gene

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; 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

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_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
Malignant transformation of salivary gland pleomorphic adenoma: proof of principle.
Title: Malignant transformation of salivary gland pleomorphic adenoma: proof of principle.
Pediatric fibromyxoid soft tissue tumor with PLAG1 fusion: A novel entity?
Title: Pediatric fibromyxoid soft tissue tumor with PLAG1 fusion: A novel entity?
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.
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.
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 EBI GWAS CatalogPubMed
A large-scale genome-wide association study of Asian populations uncovers genetic factors influencing eight quantitative traits. EBI GWAS Catalog EBI GWAS CatalogPubMed
Hundreds of variants clustered in genomic loci and biological pathways affect human height. EBI GWAS Catalog EBI GWAS CatalogPubMed
Identification of 15 loci influencing height in a Korean population. EBI GWAS Catalog EBI GWAS CatalogPubMed
Many sequence variants affecting diversity of adult human height. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

NoName (e-PCR)
- UniSTS:482309

SGC34502 (e-PCR)
- UniSTS:2867

COL1A2 (e-PCR)
- UniSTS:15668

RH12848 (e-PCR)
- UniSTS:31562

G33002 (e-PCR)
- UniSTS:117579

A009Z02 (e-PCR)
- UniSTS:41375

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

NG_023310.1 RefSeqGene

Range

5028..55392

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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

NC_000008.11 Reference GRCh38.p14 Primary Assembly

Range

56160909..56211273 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
XM_047421866.1 → XP_047277822.1 zinc finger protein PLAG1 isoform X2
XM_047421867.1 → XP_047277823.1 zinc finger protein PLAG1 isoform X2