Homo sapiens Gene: PLAGL1 | |||||||||||||||||||
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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
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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] |
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Gene Information | |||||||||||||||||||
Type | Protein coding | ||||||||||||||||||
Genomic Location | Chromosome 6:143940300-144064599 | ||||||||||||||||||
Strand | Reverse strand | ||||||||||||||||||
Band | q24.2 | ||||||||||||||||||
Transcripts | |||||||||||||||||||
Interactions | |||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 14 experimentally validated interaction(s) in this database.
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Gene Ontology | |||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Orthologs | |||||||||||||||||||
Species
Mus musculus
Bos taurus
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Gene ID
Gene Order
Not yet available
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Pathways | |||||||||||||||||||
NETPATH |
AndrogenReceptor pathway
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REACTOME | |||||||||||||||||||
KEGG | |||||||||||||||||||
INOH | |||||||||||||||||||
PID NCI | |||||||||||||||||||
Cross-References | |||||||||||||||||||
SwissProt | Q9UM63 | ||||||||||||||||||
TrEMBL | 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 | 16010 | ||||||||||||||||||
IMGT | |||||||||||||||||||
EMBL | AJ006354 AJ303119 AJ311395 AK314570 AK315184 AL049844 BC074814 BC109085 BC109086 BX537397 CH471051 CR749329 U72621 U81992 | ||||||||||||||||||
GenPept | AAB67041 AAC34250 AAH74814 AAI09086 AAI09087 BAG37151 BAG37625 CAA06994 CAB56564 CAC39614 CAC39615 CAD97639 CAH18183 CAI21447 EAW47852 EAW47853 EAW47854 EAW47855 EAW47856 | ||||||||||||||||||
RNA Seq Atlas | 5325 | ||||||||||||||||||