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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

PLAGL1 Gene

protein-coding GIFtS: 59
GCID: GC06M144261

pleiomorphic adenoma gene-like 1

Explore 28 diseases affiliated with
PLAGL1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Pleiomorphic Adenoma Gene-Like 1¹ ²		LOT-1² ³
LOT1¹ ² ³ ⁵		ZAC1²
ZAC¹ ² ³ ⁵		PLAG-Like 1²
Lost On Transformation 1² ³		Pleiomorphic Adenoma Gene-Like Protein 1²
Pleiomorphic Adenoma-Like Protein 1² ³		ZAC Tumor Supressor²
Tumor Supressor ZAC² ³		Zinc Finger Protein PLAGL1²

External Ids:	HGNC: 9046¹	Entrez Gene: 5325²	Ensembl: ENSG00000118495⁷	OMIM: 603044⁵	UniProtKB: Q9UM63³

Export aliases for PLAGL1 gene to outside databases

Previous GC identifers: GC06M143884 GC06M144108 GC06M144242 GC06M144303 GC06M141825

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for PLAGL1:

This gene encodes a C2H2 zinc finger protein with transactivation and DNA-binding activities. It has been shown to have

anti-proliferative properties, and thus thought to function as a tumor suppressor. In addition, overexpression of this

gene during fetal development is believed to underlie the rare disorder, transient neonatal diabetes mellitus (TNDM).

This gene is imprinted, with preferential expression of the paternal allele in many tissues, however, biallelic

expression has been noted in peripheral blood leucocytes. A recent study reports that tissue-specific imprinting

results from variable utilization of monoallelic and biallelic promoters. Many transcript variants differing in the 5'

UTR and encoding two different isoforms, have been found for this gene. (provided by RefSeq, Oct 2010)

UniProtKB/Swiss-Prot: PLAL1_HUMAN, Q9UM63

Function: Shows weak transcriptional activatory activity. Transcriptional regulator of the type 1 receptor for

pituitary adenylate cyclase-activating polypeptide

Gene Wiki entry for PLAGL1

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000006.11 NC_018917.1 NT_025741.15

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the PLAGL1 gene promoter:
AP-1 ATF-2 Msx-1 c-Jun En-1 ATF
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): PLAGL1 promoter sequence

Search SABiosciences Chromatin IP Primers for PLAGL1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PLAGL1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6q24-q25 Ensembl cytogenetic band: 6q24.2 HGNC cytogenetic band: 6q24-q25

PLAGL1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PLAGL1 gene location

GeneLoc information about chromosome 6 GeneLoc Exon Structure

GeneLoc location for GC06M144261: view genomic region (about GC identifiers)

Start:	144,261,437 bp from pter	End:	144,385,735 bp from pter
Size:	124,299 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: PLAL1_HUMAN, Q9UM63 (See protein sequence)

Recommended Name: Zinc finger protein PLAGL1

Size: 463 amino acids; 50819 Da

Subunit: Interacts with THRSP

Subcellular location: Nucleus

Secondary accessions: B2RBA4 B2RCM8 E1P595 E1P597 O76019 Q7Z3V8 Q92981 Q96JR9 Q9UIZ0

Alternative splicing: 2 isoforms: Q9UM63-1 Q9UM63-2

Explore the universe of human proteins at neXtProt for PLAGL1: NX_Q9UM63

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q9UM63

PLAGL1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (8 alternative transcripts):

NP_001074420.1 NP_001074421.1 NP_001074422.1 NP_001074423.1 NP_001074424.1 NP_001074425.1 NP_002647.2 NP_006709.2

ENSEMBL proteins:

ENSP00000353734 ENSP00000346810 ENSP00000356544 ENSP00000356543 ENSP00000395960

ENSP00000400929 ENSP00000398409 ENSP00000376125 ENSP00000400060 ENSP00000392418

ENSP00000376124

Human Recombinant Protein Products for PLAGL1:

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	Novus Biologicals PLAGL1 Protein Novus Biologicals PLAGL1 Lysates
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for PLAGL1

Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005622	intracellular	--	--
GO:0005634	nucleus	IEA	--

PLAGL1 for ontologies About GeneDecksing

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Assay Products for PLAGL1:

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	Uscn ELISAs and CLIAs for PLAGL1

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

PLAGL1 for domains About GeneDecksing

3 InterPro domains/families:

IPR015880 Znf_C2H2-like

IPR013087 Znf_C2H2/integrase_DNA-bd

IPR007087 Znf_C2H2

Graphical View of Domain Structure for InterPro Entry Q9UM63

ProtoNet protein and cluster: Q9UM63

UniProtKB/Swiss-Prot: PLAL1_HUMAN, Q9UM63

Similarity: Belongs to the krueppel C2H2-type zinc-finger protein family

Similarity: Contains 7 C2H2-type zinc fingers

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: PLAL1_HUMAN, Q9UM63

Function: Shows weak transcriptional activatory activity. Transcriptional regulator of the type 1 receptor for

pituitary adenylate cyclase-activating polypeptide

Genatlas biochemistry entry for PLAGL1:

pleomorphic adenoma gene-like 1,zinc finger protein,ubiquitously expressed from the paternal allele,maternally

imprinted,regulating apoptosis and cell cycle arrest,growth suppressor gene,transcriptional regulator of the type 1

receptor for pituitary adenylate cyclase-activating polypeptide,putative candidate for transcript neonatal diabetes

mellitus (TNDM)

Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003676	nucleic acid binding	--	--
GO:0003677	DNA binding	IDA	15888725
GO:0005515	protein binding	--	--
GO:0008270	zinc ion binding	IEA	--

PLAGL1 for ontologies About GeneDecksing

Phenotypes:
1 GenomeRNAi human phenotype for PLAGL1:

Decreased melanin production

12 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Plagl1):

cardiovascular system	cellular	embryogenesis	growth/size	integument
limbs/digits/tail	mortality/aging	nervous system	no phenotypic analysis	other
respiratory system	skeleton

PLAGL1 for phenotypes About GeneDecksing

Animal Models:
Mouse knock-outs for PLAGL1: Plagl1^tm1Jour Plagl1^tm1Kmu

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for PLAGL1

miRNA Products:		OriGene 3'-UTR Clone (see all 8): PLAGL1 Browse MicroRNA Expression Plasmids
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		8/40 QIAGEN miScript miRNA Assays for microRNAs that regulate PLAGL1 (see all 40):
		hsa-miR-15a hsa-miR-128 hsa-miR-605 hsa-miR-503 hsa-miR-424 hsa-miR-3658 hsa-miR-23a hsa-miR-3148

		SwitchGear 3'UTR luciferase reporter plasmid: PLAGL1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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Gene Editing Products:			DNA2.0 Custom Protein Engineering Service for PLAGL1
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		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PLAGL1 (see all 10) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PLAGL1 (see all 8) OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for PLAGL1
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PLAGL1

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for PLAGL1

STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

5/8 Interacting proteins for PLAGL1 (Q9UM63^{2, 3} ENSP00000346810⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 8)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
SMAD3	P84022²^,³	MINT-61727 I2D: score=3
TP53	P04637³, ENSP00000269305⁴	I2D: score=3 STRING: ENSP00000269305
CREBBP	Q92793³, ENSP00000262367⁴	I2D: score=1 STRING: ENSP00000262367
PML	P29590³, ENSP00000268058⁴	I2D: score=1 STRING: ENSP00000268058
DAXX	Q9UER7³, ENSP00000266000⁴	I2D: score=1 STRING: ENSP00000266000

About this table

Gene Ontology (GO): 5 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006351	transcription, DNA-dependent	IEA	--
GO:0006917	induction of apoptosis	TAS	9671765
GO:0007050	cell cycle arrest	TAS	9184226
GO:0010468	regulation of gene expression	--	--
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IDA	15888726

PLAGL1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

PLAGL1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for PLAGL1
4 Novoseek chemical compound relationships for PLAGL1 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
zinc	61.1	19	11313869 (3), 11310581 (1), 17559664 (1), 16575187 (1) (see all 14)
octreotide	27.2	6	16452215 (3)
adenylate	6.61	2	10655556 (1)
testosterone	0	2	17376404 (1), 15264248 (1)

Search CenterWatch for drugs/clinical trials and news about PLAGL1 / PLAL1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for PLAGL1 gene (8 alternative transcripts):

NM_001080951.1 NM_001080952.1 NM_001080953.1 NM_001080954.1 NM_001080955.1 NM_001080956.1 NM_002656.3 NM_006718.3

Unigene Cluster for PLAGL1:

Pleiomorphic adenoma gene-like 1

Hs.743225 [show with all ESTs]

Unigene Representative Sequence: CR749329

12 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000360537(uc003qjw.3 uc003qka.3) ENST00000354765(uc003qjv.3)

ENST00000367572 ENST00000367571 ENST00000417959 ENST00000493898 ENST00000444202(uc003qki.3 uc003qkj.3 uc003qkm.3 uc010khn.3 uc003qkn.3 uc003qko.3)

ENST00000429150(uc003qjx.3 uc003qjy.3) ENST00000392309(uc010khl.3 uc003qjz.3 uc003qke.3 uc003qkh.3)

ENST00000416623(uc010khm.3 uc003qkc.3 uc003qkf.3) ENST00000437412(uc003qkk.3 uc003qkl.3 uc003qkp.3)

ENST00000392307(uc003qkb.3 uc003qkd.3 uc003qkg.3)

miRNA Products:		OriGene 3'-UTR Clone (see all 8): PLAGL1 Browse OriGene MicroRNA Expression Plasmids
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		8/40 QIAGEN miScript miRNA Assays for microRNAs that regulate PLAGL1 (see all 40):
		hsa-miR-15a hsa-miR-128 hsa-miR-605 hsa-miR-503 hsa-miR-424 hsa-miR-3658 hsa-miR-23a hsa-miR-3148

		SwitchGear 3'UTR luciferase reporter plasmid: PLAGL1 3' UTR sequence

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PLAGL1

Additional cDNA sequence:

AJ303119.1 AJ311395.1 AK091707.1 AK096331.1 AK314570.1 AK315184.1 BC074814.2 BC109085.2

BC109086.2 CR749329.1 EF100438.1 EF100439.1 EF100440.1 EF100441.1 EF100442.1 EF100443.1

EF100444.1 EF100445.1 EF100446.1 EF100447.1 EF100448.1 EF100449.1 EF100450.1 EF100451.1

EF100452.1 U81992.1

24 DOTS entries:

DT.95270735 DT.100779109 DT.95270736 DT.102827312 DT.100709486 DT.121320266 DT.100779110 DT.86846282

DT.91736554 DT.121320356 DT.100762259 DT.100036382 DT.106612 DT.121320359 DT.121320242 DT.121320323

DT.121320344 DT.100672926 DT.121320245 DT.121320301 DT.121320325 DT.121320329 DT.40297334 DT.40129498

24/197 AceView cDNA sequences (see all 197):

NM_002656 BU624361 BQ100708 AI076305 BX508763 AA404415 AA463204 CN481341

AI367771 AI290376 NM_006718 AI540702 BE042675 BM978786 BX537397 R66981

BE645113 AI370739 AL710540 Z41833 CA433293 R78330 BU754120 AJ311395

GeneLoc Exon Structure

5/29 Alternative Splicing Database (ASD) splice patterns (SP) for PLAGL1 (see all 29) About this scheme

ExUns:	1	^	2a	·	2b	·	2c	·	2d	·	2e	·	2f	·	2g	·	2h	^	3	^	4a	·	4b	^	5a	·	5b	·	5c	·	5d	^	6a	·	6b	·	6c	·	6d	·	6e	·	6f	·	6g	·	6h	^	7	^	8a	·
SP1:																			-		-								-		-		-										-		-		-				-
SP2:																			-		-		-						-		-		-		-		-		-								-		-		-
SP3:																													-		-		-		-		-		-				-		-		-		-		-
SP4:																			-		-		-						-		-		-		-
SP5:																			-		-		-						-		-		-		-		-		-				-		-		-		-		-

ExUns:	8b	·	8c	^	9a	·	9b	·	9c	·	9d	^	10a	·	10b	·	10c	·	10d	·	10e	·	10f	·	10g	·	10h	·	10i	^	11a	·	11b	·	11c	·	11d	·	11e	·	11f	·	11g	·	11h
SP1:	-				-
SP2:	-				-		-		-
SP3:	-				-		-		-
SP4:					-		-		-
SP5:	-				-		-		-				-		-		-		-		-		-		-		-		-

ECgene alternative splicing isoforms for PLAGL1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

PLAGL1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: ATCATAATGT

About this image

PLAGL1 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

7 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Adipose

Visceral White Adipose

Visceral White Adipocytes

Adipose

Adipose

Visceral White Adipose

Adipose

Bone

Brain

Brain

Diencephalic Ventricular Zone

Neural Tube

Diencephalon

Neural Tube

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

Blimp1- mVenus and stella-ECFP genetically modified stem cells (Embryonic Stem Cell)

Early Embryo, Inner Cell Mass

See PLAGL1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for PLAGL1

SOURCE GeneReport for Unigene cluster: Hs.743225

SABiosciences Expression via Pathway-Focused PCR Array including PLAGL1:

Apoptosis 384HT in human mouse rat

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PLAGL1

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PLAGL1

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for PLAGL1 gene from 1/9 species (see all 9) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	PLAGL1⁶	Uncharacterized protein	53(a)	1 ↔ 1	3(54201457-54202728)

ENSEMBL Gene Tree for PLAGL1 (if available)
TreeFam Gene Tree for PLAGL1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for PLAGL1 gene

PLAG1² PLAGL2²

18/356 SIMAP similar genes for PLAGL1 using alignment to 4 protein entries: PLAL1_HUMAN (see all proteins) (see all similar genes):

DKFZp781P1017 PLAG1 PLAGL2 SALL1 SALL3 PRDM1

ZNF282 ZNF76 IKZF4 ZBTB20 ZNF683 ZNF705F

A-328A3.4 ZNF143 ZNF542 ZNF852 ZNF808 ZNF692

PLAGL1 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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SNP ID	Valid	Clinical significance	Chr 6 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs9496824^1,2	F,H	--	141824708(+)	`ACACCG/ATTGTA`	8	--	ds500¹		5		NS EA WA	532
rs6570594^1,2	C,F,A,H	--	141824757(+)	`GTGGAT/CAGTAT`	8	--	ds500¹		5		NS EA WA	538
rs200779763^1,2	C	--	141825538(-)	`TCTGAA/CAGAAA`	8	--	ut3¹		0	--	--	--	--
rs1063413^1,2	H	--	141827018(-)	`CAAGGA/TTCACC`	16	D V	mis¹		6		MN NS EA NA	590
rs59816371^1,2	F	--	141827514(+)	`AAGGTG/ATAGCA`	8	--	int¹		1		EA	120
rs60177885^1,2	F	--	141827745(+)	`CTCAAC/TGTCCT`	8	--	int¹		1		WA	118
rs113939714^1,2	C	--	141827987(+)	`AACAT-/GTTTTT`	8	--	int¹		1		CSA	2
rs9496825^1,2	C,F,H	--	141828585(+)	`TCAATT/CTGGAA`	8	--	int¹		5		NS EA WA	536
rs73004490^1,2	C,F	--	141829351(+)	`TGGGTA/TCCGTA`	8	--	int¹		1		NA	120
rs2144086^1,2	C,F,O	--	141829396(+)	`AGAAAC/ACAGAT`	8	--	int¹		4		NA WA	260

HapMap Linkage Disequilibrium report for PLAGL1 (144261437 - 144385735 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for PLAGL1
1 CNV: 39480

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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PLAGL1 for disorders           About GeneDecksing

OMIM gene information: 603044
OMIM disorders: 601410
20/28 diseases for PLAGL1 (see all 28):    About MalaCards

transient neonatal diabetes mellitus neonatal diabetes mellitus diabetes mellitus adenoma

central nervous system hemangioblastoma extraskeletal myxoid chondrosarcoma beckwith-wiedemann syndrome down syndrome critical region

myxoid chondrosarcoma intestinal atresia hemangioblastoma pleomorphic adenoma

pituitary tumor chondrosarcoma down syndrome basal cell carcinoma

pituitary adenoma acromegaly ovarian cancer breast cancer

3 diseases from the University of Copenhagen DISEASES database for PLAGL1:

Neonatal diabetes mellitus Pleomorphic adenoma Beckwith-Wiedemann syndrome

10/13 Novoseek disease relationships for PLAGL1 gene (see all 13) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
neonatal diabetes mellitus	94.4	9	11935319 (1), 17341487 (1), 12473647 (1), 15888726 (1) (see all 7)
allelic imbalance	66.9	2	10435621 (1), 15581945 (1)
adenoma pleomorphic	66.6	2	19155788 (1)
pituitary tumors	59.1	6	16452215 (2), 11156367 (1), 16179495 (1), 19637311 (1)
growth retardation	51.9	3	12473647 (1), 19155788 (1)
hydatidiform mole	44.2	1	12471198 (1)
tumors	29.2	53	15751035 (5), 19637311 (5), 10435621 (4), 15581945 (4) (see all 19)
ovarian cancer	25.2	5	15581945 (3), 15751035 (2)
cancer	22.8	10	17341487 (2), 12473647 (2), 15581945 (2), 20175198 (2) (see all 6)
ovarian carcinoma	19.3	3	10757814 (1), 15581945 (1)

GeneTests: PLAGL1

Diabetes Mellitus, 6q24-Related Transient Neonatal

Human Genome Epidemiology (HuGE) Navigator: PLAGL1 (3 documents)

Export disorders for PLAGL1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for PLAGL1 gene, integrated from 9 sources (see all 87):
(articles sorted by number of sources associating them with PLAGL1)

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Transcriptional activation capacity of the novel PLAG family of zinc finger proteins. (PubMed id 9722527)^{1, 2, 3, 9} Kas K.... Van de Ven W.J.M. (1998)
hZAC encodes a zinc finger protein with antiproliferative properties and maps to a chromosomal region frequently lost in cancer. (PubMed id 9671765)^{1, 2, 3} Varrault A....Journot L. (1998)
Alternative splicing of the imprinted candidate tumor suppressor gene ZAC regulates its antiproliferative and DNA binding activities. (PubMed id 11313869)^{1, 2, 9} Bilanges B.... Journot L. (2001)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
Identification of a zinc-finger gene at 6q25: a chromosomal region implicated in development of many solid tumors. (PubMed id 9150364)^{1, 2} Abdollahi A.... Hamilton T.C. (1997)
LOT1 (PLAGL1/ZAC1), the candidate tumor suppressor gene at chromosome 6q24-25, is epigenetically regulated in cancer. (PubMed id 12473647)^{1, 9} Abdollahi A....Hamilton T.C. (2003)
Enhancement of p53-dependent gene activation by the transcriptional coactivator Zac1. (PubMed id 11360197)^{1, 9} Huang S.M....Stallcup M.R. (2001)
Preferential loss of the nonimprinted allele for the ZAC1 tumor suppressor gene in human capillary hemangioblastoma. (PubMed id 17805016)^{1, 9} Lemeta S....Husgafvel-Pursiainen K. (2007)
Altered expression and loss of heterozygosity of the LOT1 gene in ovarian cancer. (PubMed id 15581945)^{1, 9} Cvetkovic D....Abdollahi A. (2004)
Modulation of the cyclin-dependent kinase inhibitor p21(WAF1/Cip1) gene by Zac1 through the antagonistic regulators p53 and histone deacetylase 1 in HeLa Cells. (PubMed id 18644983)^{1, 9} Liu P.Y....Huang S.M. (2008)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 5325	HGNC: 9046	AceView: PLAGL1	Ensembl:ENSG00000118495	euGenes: HUgn5325
ECgene: PLAGL1	H-InvDB: PLAGL1

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for PLAGL1	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for PLAGL1	Genetics and Cytogenetics in Oncology and Haematology
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PLAGL1

Intellectual Property for PLAGL1 gene
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Patent Information for PLAGL1 gene:
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pleiomorphic adenoma gene-like 1

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PLAGL1 Gene

pleiomorphic adenoma gene-like 1

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