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Gene id 5325
Gene Summary    Protein Summary    Gene ontology    Diseases    PubMed    

Gene Summary

Gene Symbol PLAGL1   Gene   UCSC   Ensembl
Aliases LOT1, ZAC, ZAC1
Gene name PLAG1 like zinc finger 1
Alternate names zinc finger protein PLAGL1, PLAG-like 1, lost on transformation 1, pleiomorphic adenoma gene-like 1, tumor suppressor ZAC,
Gene location 6q24.2 (144064598: 143940299)     Exons: 12     NC_000006.12
Gene summary(Entrez) 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 causa
OMIM 603044

Protein Summary

Protein general information Q9UM63  

Name: Zinc finger protein PLAGL1 (Lost on transformation 1) (LOT 1) (Pleiomorphic adenoma like protein 1) (Tumor suppressor ZAC)

Length: 463  Mass: 50,819

Sequence MATFPCQLCGKTFLTLEKFTIHNYSHSRERPYKCVQPDCGKAFVSRYKLMRHMATHSPQKSHQCAHCEKTFNRKD
HLKNHLQTHDPNKMAFGCEECGKKYNTMLGYKRHLALHAASSGDLTCGVCALELGSTEVLLDHLKAHAEEKPPSG
TKEKKHQCDHCERCFYTRKDVRRHLVVHTGCKDFLCQFCAQRFGRKDHLTRHTKKTHSQELMKESLQTGDLLSTF
HTISPSFQLKAAALPPFPLGASAQNGLASSLPAEVHSLTLSPPEQAAQPMQPLPESLASLHPSVSPGSPPPPLPN
HKYNTTSTSYSPLASLPLKADTKGFCNISLFEDLPLQEPQSPQKLNPGFDLAKGNAGKVNLPKELPADAVNLTIP
ASLDLSPLLGFWQLPPPATQNTFGNSTLALGPGESLPHRLSCLGQQQQEPPLAMGTVSLGQLPLPPIPHVFSAGT
GSAILPHFHHAFR
Structural information
Interpro:  IPR027770  IPR036236  IPR013087  
Prosite:   PS00028 PS50157
MINT:  
STRING:   ENSP00000346810
Other Databases GeneCards:  PLAGL1  Malacards:  PLAGL1

Gene ontology

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GO accessionTerm nameEvidence codeGo category
GO:0000977 RNA polymerase II regulat
ory region sequence-speci
fic DNA binding
IDA molecular function
GO:0001228 transcriptional activator
activity, RNA polymerase
II transcription regulat
ory region sequence-speci
fic binding
IDA molecular function
GO:0003677 DNA binding
IDA molecular function
GO:0005634 nucleus
IBA cellular component
GO:0005654 nucleoplasm
IDA cellular component
GO:0005654 nucleoplasm
TAS cellular component
GO:0005794 Golgi apparatus
IDA cellular component
GO:0006366 transcription from RNA po
lymerase II promoter
IEA biological process
GO:0006915 apoptotic process
TAS biological process
GO:0006977 DNA damage response, sign
al transduction by p53 cl
ass mediator resulting in
cell cycle arrest
TAS biological process
GO:0007050 cell cycle arrest
TAS biological process
GO:0030154 cell differentiation
IBA biological process
GO:0035914 skeletal muscle cell diff
erentiation
IEA biological process
GO:0043231 intracellular membrane-bo
unded organelle
IDA cellular component
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
IDA biological process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
IDA biological process
GO:0046872 metal ion binding
IEA molecular function
GO:0000977 RNA polymerase II regulat
ory region sequence-speci
fic DNA binding
IDA molecular function
GO:0001228 transcriptional activator
activity, RNA polymerase
II transcription regulat
ory region sequence-speci
fic binding
IDA molecular function
GO:0003676 nucleic acid binding
IEA molecular function
GO:0003677 DNA binding
IEA molecular function
GO:0003677 DNA binding
IDA molecular function
GO:0005634 nucleus
IBA cellular component
GO:0005634 nucleus
IEA cellular component
GO:0005634 nucleus
IEA cellular component
GO:0005654 nucleoplasm
IDA cellular component
GO:0005654 nucleoplasm
TAS cellular component
GO:0005794 Golgi apparatus
IDA cellular component
GO:0006351 transcription, DNA-templa
ted
IEA biological process
GO:0006355 regulation of transcripti
on, DNA-templated
IEA biological process
GO:0006366 transcription from RNA po
lymerase II promoter
IEA biological process
GO:0006915 apoptotic process
TAS biological process
GO:0006977 DNA damage response, sign
al transduction by p53 cl
ass mediator resulting in
cell cycle arrest
TAS biological process
GO:0007050 cell cycle arrest
TAS biological process
GO:0010468 regulation of gene expres
sion
IEA biological process
GO:0030154 cell differentiation
IBA biological process
GO:0035914 skeletal muscle cell diff
erentiation
IEA biological process
GO:0043231 intracellular membrane-bo
unded organelle
IDA cellular component
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
IDA biological process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
IDA biological process
GO:0046872 metal ion binding
IEA molecular function
GO:0046872 metal ion binding
IEA molecular function
GO:0000977 RNA polymerase II regulat
ory region sequence-speci
fic DNA binding
IDA molecular function
GO:0001228 transcriptional activator
activity, RNA polymerase
II transcription regulat
ory region sequence-speci
fic binding
IDA molecular function
GO:0003677 DNA binding
IDA molecular function
GO:0005634 nucleus
IBA cellular component
GO:0005654 nucleoplasm
IDA cellular component
GO:0005654 nucleoplasm
TAS cellular component
GO:0005794 Golgi apparatus
IDA cellular component
GO:0006915 apoptotic process
TAS biological process
GO:0006977 DNA damage response, sign
al transduction by p53 cl
ass mediator resulting in
cell cycle arrest
TAS biological process
GO:0007050 cell cycle arrest
TAS biological process
GO:0030154 cell differentiation
IBA biological process
GO:0043231 intracellular membrane-bo
unded organelle
IDA cellular component
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
IDA biological process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
IDA biological process
Associated diseases References
Diabetes OMIM: 603044
Male factor infertility MIK: 19880108
Oligozoospermia MIK: 19880108
Aberrant CpGs in Low Motility Sperm MIK: 21674046
Cryptorchidism MIK: 28606200
Male factor infertility MIK: 19880108
Oligozoospermic MIK: 19880108
Teratozoospermia MIK: 17327269

PubMed references

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PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
19880108 Male facto
r infertil
ity

25 (10 oligozoo
spermic, 10 abn
ormal protamine
replacement pa
tients, 5 known
fertile donors
)
Male infertility LIT1
MEST
SNRPN
PLAGL1
PEG3
H19
and IGF2
Show abstract
19880108 Oligozoosp
ermic


Male infertility LIT1
MEST
SNRPN
PLAGL1
PEG3
H19
and IGF2
Show abstract
17327269 Teratozoos
permia

13 (5 controls,
8 cases)
Male infertility GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
Show abstract
21674046 Aberrant C
pGs in Low
Motility
Sperm

18
Male infertility GSE26881
Show abstract
28606200 Cryptorchi
dism

Monozgotic twin
s (1 control, I
cwith cryptorc
hidism)
Male infertility MeDIP-Seq
Show abstract