Homo sapiens Gene: PLAGL1
Summary
InnateDB Gene IDBG-97390.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol PLAGL1
Gene Name pleiomorphic adenoma gene-like 1
Synonyms LOT1; ZAC; ZAC1;
Species Homo sapiens
Ensembl Gene ENSG00000118495
Encoded Proteins
pleiomorphic adenoma gene-like 1
pleiomorphic adenoma gene-like 1
pleiomorphic adenoma gene-like 1
pleiomorphic adenoma gene-like 1
pleiomorphic adenoma gene-like 1
pleiomorphic adenoma gene-like 1
pleiomorphic adenoma gene-like 1
pleiomorphic adenoma gene-like 1
pleiomorphic adenoma gene-like 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 6:143940300-144064599
Strand Reverse strand
Band q24.2
Transcripts
ENST00000360537 ENSP00000353734
ENST00000354765 ENSP00000346810
ENST00000367572 ENSP00000356544
ENST00000367571 ENSP00000356543
ENST00000392307 ENSP00000376124
ENST00000444202 ENSP00000400929
ENST00000437412 ENSP00000392418
ENST00000416623 ENSP00000400060
ENST00000417959 ENSP00000395960
ENST00000493898
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 14 experimentally validated interaction(s) in this database.
Experimentally validated
Total 14 [view]
Protein-Protein 12 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 1 [view]
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding
GO:0000981 sequence-specific DNA binding RNA polymerase II transcription factor activity
GO:0001228 RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
GO:0003677 DNA binding
GO:0005515 protein binding
GO:0046872 metal ion binding
Biological Process
GO:0006366 transcription from RNA polymerase II promoter
GO:0006915 apoptotic process
GO:0007050 cell cycle arrest
GO:0010468 regulation of gene expression
GO:0030154 cell differentiation
GO:0035914 skeletal muscle cell differentiation
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
Cellular Component
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005794 Golgi apparatus
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
AndrogenReceptor pathway
REACTOME
KEGG
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt Q9UM63
TrEMBL A1YLA1 Q68DN7
UniProt Splice Variant
Entrez Gene 5325
UniGene
RefSeq NM_001080951 NM_001080952 NM_001080953 NM_001080954 NM_001080955 NM_001080956 NM_001289037 NM_001289038 NM_001289039 NM_001289040 NM_001289041 NM_001289042 NM_001289043 NM_001289044 NM_001289045 NM_001289046 NM_001289047 NM_001289048 NM_001289049 NM_002656 NM_006718
HUGO HGNC:9046
OMIM 603044
CCDS CCDS5202 CCDS5203
HPRD
IMGT
EMBL AJ006354 AJ303119 AJ311395 AK314570 AK315184 AL049844 BC074814 BC109085 BC109086 BX537397 CH471051 CR749329 EF100438 EF100442 EF100445 EF100446 EF100447 EF100448 EF100449 EF100450 EF100452 U72621 U81992
GenPept AAB67041 AAC34250 AAH74814 AAI09086 AAI09087 ABM54075 ABM54079 ABM54082 ABM54083 ABM54084 ABM54085 ABM54086 ABM54087 ABM54089 BAG37151 BAG37625 CAA06994 CAB56564 CAC39614 CAC39615 CAD97639 CAH18183 CAI21447 EAW47852 EAW47853 EAW47854 EAW47855 EAW47856
RNA Seq Atlas 5325