PLAGL1 - PLAG1 like zinc finger 1 Gene

Also Known as ZAC; LOT1; ZAC1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 5325

About PLAGL1

Cytogenetic location: 6q24.2 Genomic coordinates (GRCh38): 6:143,940,300-144,064,599 (from NCBI)

This gene has 27 transcripts (splice variants), 267 orthologues, 29 paralogues and is associated with 2 phenotypes. Broad expression in placenta (RPKM 68.4), skin (RPKM 15.8) and 16 other tissues.

Summary

This gene encodes a C2H2 Zinc Finger Protein that functions as a suppressor of cell growth. This gene is often deleted or methylated and silenced in Cancer cells. In addition, overexpression of this gene during fetal development is thought to be the causal factor for transient neonatal diabetes mellitus (TNDM). Alternative splicing and the use of alternative promoters results in multiple transcript variants encoding two different protein isoforms. The P1 downstream promoter of this gene is imprinted, with preferential expression from the paternal allele in many tissues. [provided by RefSeq, Nov 2015]

PLAGL1 Products (27)

mRNA	Protein	Name
NM_001080951.3	NP_001074420.1	zinc finger protein PLAGL1 isoform 2
NM_001080952.3	NP_001074421.1	zinc finger protein PLAGL1 isoform 2
NM_001080953.3	NP_001074422.1	zinc finger protein PLAGL1 isoform 2
NM_001080954.3	NP_001074423.1	zinc finger protein PLAGL1 isoform 2
NM_001080955.3	NP_001074424.1	zinc finger protein PLAGL1 isoform 1
NM_001080956.3	NP_001074425.1	zinc finger protein PLAGL1 isoform 1
NM_001289037.2	NP_001275966.1	zinc finger protein PLAGL1 isoform 1
NM_001289038.2	NP_001275967.1	zinc finger protein PLAGL1 isoform 1
NM_001289039.2	NP_001275968.1	zinc finger protein PLAGL1 isoform 1
NM_001289040.2	NP_001275969.1	zinc finger protein PLAGL1 isoform 1
NM_001289041.2	NP_001275970.1	zinc finger protein PLAGL1 isoform 1
NM_001289042.2	NP_001275971.1	zinc finger protein PLAGL1 isoform 2
NM_001289043.2	NP_001275972.1	zinc finger protein PLAGL1 isoform 2
NM_001289044.2	NP_001275973.1	zinc finger protein PLAGL1 isoform 2
NM_001289045.2	NP_001275974.1	zinc finger protein PLAGL1 isoform 2
NM_001289046.2	NP_001275975.1	zinc finger protein PLAGL1 isoform 2
NM_001289047.2	NP_001275976.1	zinc finger protein PLAGL1 isoform 2
NM_001289048.2	NP_001275977.1	zinc finger protein PLAGL1 isoform 2
NM_001289049.2	NP_001275978.1	zinc finger protein PLAGL1 isoform 2
NM_001317156.1	NP_001304085.1	zinc finger protein PLAGL1 isoform 2
NM_001317157.2	NP_001304086.1	zinc finger protein PLAGL1 isoform 2
NM_001317158.1	NP_001304087.1	zinc finger protein PLAGL1 isoform 1
NM_001317159.2	NP_001304088.1	zinc finger protein PLAGL1 isoform 2
NM_001317160.2	NP_001304089.1	zinc finger protein PLAGL1 isoform 1
NM_001317161.2	NP_001304090.1	zinc finger protein PLAGL1 isoform 2
NM_001317162.2	NP_001304091.1	zinc finger protein PLAGL1 isoform 2
NM_006718.5	NP_006709.2	zinc finger protein PLAGL1 isoform 2

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables DNA binding	IDA IDA: Inferred from direct assay	15888726	GOA
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA IDA: Inferred from direct assay	9671765	GOA
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA IDA: Inferred from direct assay	9671765	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

Biological Process GO Annotation	Evidence	References	Source
acts upstream of or within positive regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	15888726	GOA
involved in positive regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	9671765	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PLAGL1 Protein Structure

zf-C2H2_4

zf-H2C2_2

zf-C2H2_4

0
100
200
300
400
463 a.a.

Protein Preferred Names	Protein Names
zinc finger protein PLAGL1	PLAG-like 1

PLAGL1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	PLAGL1	Q9UM63	TLE5	Homo sapiens	Q08117-2	Y2H Array	32296183
Intra	PLAGL1	Q9UM63	TLE5	Homo sapiens	Q08117-2	Y2H Prey Pooling	32296183
Intra	PLAGL1	Q9UM63	KANK2	Homo sapiens	Q63ZY3	Y2H Prey Pooling	32296183
Intra	PLAGL1	Q9UM63	KANK2	Homo sapiens	Q63ZY3	Y2H Array	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

PLAGL1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P84878	PLAGL1 Antibody (YA4575)	IHC-P, ELISA	Human
HY-P84878A	PLAGL1 Antibody (YA4575)(PBS only)	IHC-P, ELISA	Human

Related Diseases

Diseases	Alias
Transient Neonatal Diabetes Mellitus	Diabetes Mellitus, Transient Neonatal Tndm Chromosome 6-Associated Transient Diabetes Mellitus Dmtn Diabetes Mellitus, 6q24-Related Transient Neonatal Tndm1 Neonatal Diabetes Mellitus, Transient Tndm -[Transient Neonatal Diabetes Mellitus]
Neonatal Diabetes	Neonatal Diabetes Mellitus Diabetes Mellitus Syndrome In Newborn Infant Ndm
Paternal Uniparental Disomy Of Chromosome 6	Upd(6)Pat
Pleomorphic Adenoma	Mixed Tumor Of The Salivary Gland Adenoma Pleomorphic Adenoma, Pleomorphic Mixed Salivary Gland Tumor Mixed Tumor, Not Otherwise Specified
Diabetes Mellitus	Diabetes
Diabetes Mellitus, Transient Neonatal, 1	TNDM1 6q24-Related Diabetes Mellitus Tndm Dmtn Diabetes Mellitus, Transient Neonatal 1 Transient Neonatal Diabetes Mellitus
Mulchandani-Bhoj-Conlin Syndrome	MBCS Maternal Uniparental Disomy Of Chromosome 20 Maternal Upd(20) Upd(20)Mat Uniparental Disomy, Maternal, Chromosome 20
Adenoma	Acinar Cell Adenoma Adenomas Acinic Cell Adenoma
Bladder Exstrophy	Exstrophy Of The Bladder Classic Exstrophy Of The Bladder
Riboflavin Deficiency	Ariboflavinosis Maternal Riboflavin Deficiency RBFVD Vitamin B2 Deficiency Hyporiboflavinosis
Intellectual Developmental Disorder, Autosomal Dominant 46	MRD46 Mental Retardation, Autosomal Dominant 46 Autosomal Dominant Mental Retardation 46 Autosomal Dominant Intellectual Developmental Disorder 46 Mental Retardation, Autosomal Dominant, Type 46
Beckwith-Wiedemann Syndrome	Wiedemann-Beckwith Syndrome BWS Exomphalos-Macroglossia-Gigantism Syndrome Emg Syndrome Beckwith-Wiedemann Syndrome Due To Cdkn1c Mutation Emg Abnormality Wbs Exomphalos Macroglossia Gigantism Syndrome Beckwith-Wiedemann Syndrome Due To Nsd1 Mutation Macroglossia Exomphalos Gigantism
Temple Syndrome	Uniparental Disomy, Maternal, Chromosome 14 Temple Syndrome Due To Paternal 14q32.2 Microdeletion Paternal Del(14)(Q32.2) Temple Syndrome Due To Paternal 14q32.2 Hypomethylation Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 Upd(14)Mat
Hemangioblastoma	Capillary Hemangioblastoma
Silver-Russell Syndrome 1	Silver-Russell Syndrome Russell-Silver Syndrome Silver-Russell Dwarfism Rss SRS1 Srs Silver Russell Dwarfism Russell Silver Syndrome Silver Russell Syndrome
Kagami-Ogata Syndrome	Paternal Uniparental Disomy Of Chromosome 14 Uniparental Disomy, Paternal, Chromosome 14 Kos Mca Due To 14q32.2 Maternally Expressed Gene Defect Paternal Uniparental Disomy 14 Kagami-Ogata Syndrome Due To Maternal 14q32.2 Microdeletion Maternal Del(14)(Q32.2) Maternal Monosomy 14q32.2 Kagami-Ogata Syndrome Due To Maternal 14q32.2 Hypermethylation Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 Upd(14)Pat
Pseudoxanthoma Elasticum	PXE Gronblad-Strandberg Syndrome Pseudoxanthoma Elasticum, Modifier Of Severity Of Gronblad-Strandberg-Touraine Syndrome Gronblad Strandberg Syndrome Groenblad-Strandberg Syndrome Nevus Elasticus Pxe - [Pseudoxanthoma Elasticum]
Umbilical Hernia	Hernia, Umbilical
Spastic Paraplegia 17, Autosomal Dominant	Silver Syndrome SPG17 Silver Spastic Paraplegia Syndrome Spastic Paraplegia With Amyotrophy Of Hands And Feet Hereditary Spastic Paraplegia 17 Autosomal Dominant Spastic Paraplegia Type 17 Spastic Paraplegia 17 Spastic Paraplegia-Amyotrophy Of Hands And Feet Autosomal Dominant Spastic Paraplegia 17 Dhmn5b Distal Hereditary Motor Neuropathy Type 5b Paraplegia, Spastic, Autosomal Dominant, Type 17 Russell-Silver Syndrome Neuronopathy, Distal Hereditary Motor, Type Vb
Gestational Trophoblastic Neoplasm	Hydatidiform Mole Molar Pregnancy Gestational Trophoblastic Neoplasia Gestational Trophoblastic Tumor Gtn Gestational Trophoblastic Disease Gestational Trophoblastic Neoplasms Hydatidiform Mole, Recurrent, 1 Hydatidiform Mole Benign Trophoblastic Disease Trophoblastic Disease Nos Trophoblastic Disorder Vesicular Mole Nos Vesicular Mole Hydatidiform Mole Nos
Trophoblastic Neoplasm	Trophoblastic Tumor Trophoblastic Neoplasms
Ovarian Cancer	Ovarian Carcinoma Ovarian Neoplasm Malignant Tumour Of Ovary Cancer Of The Ovary Epithelial Ovarian Cancer Neoplasm Of Ovary Ovarian Neoplasms Ovarian Cancers Malignant Neoplasm Of Ovary Primary Malignant Neoplasm Of Ovary Ovarian Cancer, Somatic Malignant Ovarian Tumor Ovary Neoplasm Primary Ovarian Cancer Tumor Of The Ovary Malignant Neoplasm Of The Ovary Malignant Tumor Of The Ovary Ovarian Malignant Tumor OC Ovarian Carcinomas Cancer, Ovarian Cancer Of Ovary Ovary Cancer Ca Ovary
Permanent Neonatal Diabetes Mellitus	Pndm Permanent Diabetes Mellitus Of Infancy Pdmi Neonatal Diabetes Mellitus, Permanent
Adult Syndrome	Acro-Dermato-Ungual-Lacrimal-Tooth Syndrome Acro Dermato Ungual Lacrimal Tooth Syndrome Pigment Anomaly-Ectrodactyly-Hypodontia Syndrome Acro-Dermato-Ungual-Lacrimal-Tooth Syndrome Adult
Noonan Syndrome 1	Noonan Syndrome NS1 Male Turner Syndrome Female Pseudo-Turner Syndrome Turner Phenotype With Normal Karyotype Noonan Syndrome With Pigmented Villonodular Synovitis Turner'S Phenotype, Karyotype Normal Familial Turner Syndrome Noonan'S Syndrome Noonan-Ehmke Syndrome Ns Pseudo-Ullrich-Turner Syndrome Turner Syndrome In Female With X Chromosome Turner-Like Syndrome Ullrich-Noonan Syndrome Noonan-Like/Multiple Giant Cell Lesion Syndrome Noonan Syndrome-Like Disorder With Multiple Giant Cell Lesions Pterygium Colli Syndrome Noonan Syndrome, Type 1 Turner Syndrome, Male

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10644	PLAGL1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	PLAGL1	VGNC	VGNC:32972
Rattus norvegicus	PLAGL1	RGD	RGD:3014
Macaca mulatta	PLAGL1	VGNC	VGNC:83444
Canis familiaris	PLAGL1	VGNC	VGNC:44639
Mus musculus	PLAGL1	MGD	MGI:1100874
Felis catus	PLAGL1	VGNC	VGNC:68888
Others	PLAGL1	NCBI