1. Gene
  2. PLAGL1 - PLAG1 like zinc finger 1 Gene

PLAGL1 - PLAG1 like zinc finger 1 Gene

Homo sapiens

Also known as ZAC; LOT1; ZAC1

Gene ID: 5325 | Gene type: protein coding

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 Reference 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 Reference 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-C2H2_4: C2H2-type zinc finger (4 - 20)

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (49 - 72)

zf-C2H2_4

zf-C2H2_4: C2H2-type zinc finger (93 - 113)

zf-C2H2_4

zf-C2H2_4: C2H2-type zinc finger (156 - 178)

zf-C2H2_4

zf-C2H2_4: C2H2-type zinc finger (184 - 207)

  • 0
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  • 400
  • 463 a.a.
Protein Preferred Names Protein Names

zinc finger protein PLAGL1

PLAG-like 1

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

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