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Protein

Zinc finger protein PLAGL1

Gene

PLAGL1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Acts as a transcriptional activator (PubMed:9722527). Involved in the transcriptional regulation of type 1 receptor for pituitary adenylate cyclase-activating polypeptide.2 Publications

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri4 – 26C2H2-type 1PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri32 – 56C2H2-type 2PROSITE-ProRule annotationAdd BLAST25
Zinc fingeri62 – 84C2H2-type 3PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri91 – 113C2H2-type 4PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri120 – 142C2H2-type 5PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri156 – 178C2H2-type 6PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri184 – 207C2H2-type 7PROSITE-ProRule annotationAdd BLAST24

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionActivator, DNA-binding
Biological processTranscription, Transcription regulation
LigandMetal-binding, Zinc

Enzyme and pathway databases

ReactomeiR-HSA-6804115 TP53 regulates transcription of additional cell cycle genes whose exact role in the p53 pathway remain uncertain
SIGNORiQ9UM63

Names & Taxonomyi

Protein namesi
Recommended name:
Zinc finger protein PLAGL1
Alternative name(s):
Lost on transformation 1
Short name:
LOT-1
Pleiomorphic adenoma-like protein 1
Tumor suppressor ZAC
Gene namesi
Name:PLAGL1
Synonyms:LOT1, ZAC
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

EuPathDBiHostDB:ENSG00000118495.18
HGNCiHGNC:9046 PLAGL1
MIMi603044 gene
neXtProtiNX_Q9UM63

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Transient neonatal diabetes mellitus 1 (TNDM1)1 Publication
The gene represented in this entry is involved in disease pathogenesis. Imprinted expression of PLAGL1 is relaxed in patients with transient neonatal diabetes (TND) (PubMed:11935319). Aberrant hypomethylation of the TND differentially methylated region within the PLAGL1 promoter as well as other imprinted loci at chromosome 6q24 is caused by ZFP57 mutations (PubMed:18622393).2 Publications
Disease descriptionNeonatal diabetes is a form of diabetes mellitus defined by the onset of mild-to-severe hyperglycemia within the first months of life. In about half of the neonates, diabetes is transient and resolves at a median age of 3 months, whereas the rest have a permanent form of diabetes.
See also OMIM:601410

Organism-specific databases

DisGeNETi5325
GeneReviewsiPLAGL1
MalaCardsiPLAGL1
MIMi601410 phenotype
OpenTargetsiENSG00000118495
Orphaneti96191 Paternal uniparental disomy of chromosome 6
99886 Transient neonatal diabetes mellitus
PharmGKBiPA33379

Polymorphism and mutation databases

BioMutaiPLAGL1
DMDMi158523334

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000472221 – 463Zinc finger protein PLAGL1Add BLAST463

Proteomic databases

PaxDbiQ9UM63
PeptideAtlasiQ9UM63
PRIDEiQ9UM63
ProteomicsDBi85183
85184 [Q9UM63-2]

PTM databases

iPTMnetiQ9UM63
PhosphoSitePlusiQ9UM63

Expressioni

Gene expression databases

BgeeiENSG00000118495 Expressed in 233 organ(s), highest expression level in metanephros
CleanExiHS_PLAGL1
ExpressionAtlasiQ9UM63 baseline and differential
GenevisibleiQ9UM63 HS

Organism-specific databases

HPAiHPA055706

Interactioni

Subunit structurei

Interacts with THRSP.1 Publication

Protein-protein interaction databases

BioGridi111341, 13 interactors
IntActiQ9UM63, 2 interactors
MINTiQ9UM63
STRINGi9606.ENSP00000346810

Structurei

3D structure databases

ProteinModelPortaliQ9UM63
SMRiQ9UM63
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri4 – 26C2H2-type 1PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri32 – 56C2H2-type 2PROSITE-ProRule annotationAdd BLAST25
Zinc fingeri62 – 84C2H2-type 3PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri91 – 113C2H2-type 4PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri120 – 142C2H2-type 5PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri156 – 178C2H2-type 6PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri184 – 207C2H2-type 7PROSITE-ProRule annotationAdd BLAST24

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

eggNOGiKOG1721 Eukaryota
COG5048 LUCA
GeneTreeiENSGT00390000013640
HOVERGENiHBG053608
InParanoidiQ9UM63
KOiK19485
OMAiQCDHCER
OrthoDBiEOG091G061O
PhylomeDBiQ9UM63
TreeFamiTF332024

Family and domain databases

InterProiView protein in InterPro
IPR027770 PLAGL1
IPR036236 Znf_C2H2_sf
IPR013087 Znf_C2H2_type
PANTHERiPTHR45218 PTHR45218, 1 hit
SMARTiView protein in SMART
SM00355 ZnF_C2H2, 7 hits
SUPFAMiSSF57667 SSF57667, 3 hits
PROSITEiView protein in PROSITE
PS00028 ZINC_FINGER_C2H2_1, 7 hits
PS50157 ZINC_FINGER_C2H2_2, 7 hits

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 7 potential isoforms that are computationally mapped.iShow all

Isoform 1 (identifier: Q9UM63-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MATFPCQLCG KTFLTLEKFT IHNYSHSRER PYKCVQPDCG KAFVSRYKLM
60 70 80 90 100
RHMATHSPQK SHQCAHCEKT FNRKDHLKNH LQTHDPNKMA FGCEECGKKY
110 120 130 140 150
NTMLGYKRHL ALHAASSGDL TCGVCALELG STEVLLDHLK AHAEEKPPSG
160 170 180 190 200
TKEKKHQCDH CERCFYTRKD VRRHLVVHTG CKDFLCQFCA QRFGRKDHLT
210 220 230 240 250
RHTKKTHSQE LMKESLQTGD LLSTFHTISP SFQLKAAALP PFPLGASAQN
260 270 280 290 300
GLASSLPAEV HSLTLSPPEQ AAQPMQPLPE SLASLHPSVS PGSPPPPLPN
310 320 330 340 350
HKYNTTSTSY SPLASLPLKA DTKGFCNISL FEDLPLQEPQ SPQKLNPGFD
360 370 380 390 400
LAKGNAGKVN LPKELPADAV NLTIPASLDL SPLLGFWQLP PPATQNTFGN
410 420 430 440 450
STLALGPGES LPHRLSCLGQ QQQEPPLAMG TVSLGQLPLP PIPHVFSAGT
460
GSAILPHFHH AFR
Length:463
Mass (Da):50,819
Last modified:September 11, 2007 - v2
Checksum:iB10C74DA409BD4F7
GO
Isoform 2 (identifier: Q9UM63-2) [UniParc]FASTAAdd to basket
Also known as: ZACdelta2

The sequence of this isoform differs from the canonical sequence as follows:
     1-52: Missing.

Show »
Length:411
Mass (Da):44,668
Checksum:i735121F4BF16F7C8
GO

Computationally mapped potential isoform sequencesi

There are 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q68DN7Q68DN7_HUMAN
Zinc finger protein PLAGL1
PLAGL1 DKFZp781P1017
252Annotation score:
A1YLA1A1YLA1_HUMAN
Pleiomorphic adenoma gene-like prot...
PLAGL1
64Annotation score:
A0A0D9SFM8A0A0D9SFM8_HUMAN
Zinc finger protein PLAGL1
PLAGL1
74Annotation score:
A0A0D9SEQ4A0A0D9SEQ4_HUMAN
Zinc finger protein PLAGL1
PLAGL1
73Annotation score:
A0A0D9SFI7A0A0D9SFI7_HUMAN
Zinc finger protein PLAGL1
PLAGL1
102Annotation score:
A0A0D9SGF7A0A0D9SGF7_HUMAN
Zinc finger protein PLAGL1
PLAGL1
80Annotation score:
A1YLA2A1YLA2_HUMAN
Pleiomorphic adenoma gene-like prot...
PLAGL1
12Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti81L → F in AAB67041 (PubMed:9150364).Curated1
Sequence conflicti197D → V in AAC34250 (PubMed:9722527).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_052729272A → V. Corresponds to variant dbSNP:rs35263016Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0281231 – 52Missing in isoform 2. 4 PublicationsAdd BLAST52

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U72621 mRNA Translation: AAB67041.1
U81992 mRNA Translation: AAC34250.1
AJ006354 mRNA Translation: CAA06994.1
AJ303119 mRNA Translation: CAC39614.1
AJ311395 mRNA Translation: CAC39615.1
AK314570 mRNA Translation: BAG37151.1
AK315184 mRNA Translation: BAG37625.1
BX537397 mRNA Translation: CAD97639.1
AL049844 Genomic DNA No translation available.
CH471051 Genomic DNA Translation: EAW47852.1
CH471051 Genomic DNA Translation: EAW47853.1
CH471051 Genomic DNA Translation: EAW47854.1
CH471051 Genomic DNA Translation: EAW47855.1
CH471051 Genomic DNA Translation: EAW47856.1
BC074814 mRNA Translation: AAH74814.1
BC109085 mRNA Translation: AAI09086.1
BC109086 mRNA Translation: AAI09087.1
CCDSiCCDS5202.1 [Q9UM63-1]
CCDS5203.1 [Q9UM63-2]
RefSeqiNP_001074420.1, NM_001080951.2 [Q9UM63-1]
NP_001074421.1, NM_001080952.2 [Q9UM63-1]
NP_001074422.1, NM_001080953.2 [Q9UM63-1]
NP_001074423.1, NM_001080954.2 [Q9UM63-1]
NP_001074424.1, NM_001080955.2 [Q9UM63-2]
NP_001074425.1, NM_001080956.2 [Q9UM63-2]
NP_001275966.1, NM_001289037.1 [Q9UM63-2]
NP_001275967.1, NM_001289038.1 [Q9UM63-2]
NP_001275968.1, NM_001289039.1 [Q9UM63-2]
NP_001275969.1, NM_001289040.1 [Q9UM63-2]
NP_001275970.1, NM_001289041.1 [Q9UM63-2]
NP_001275971.1, NM_001289042.1 [Q9UM63-1]
NP_001275972.1, NM_001289043.1 [Q9UM63-1]
NP_001275973.1, NM_001289044.1 [Q9UM63-1]
NP_001275974.1, NM_001289045.1 [Q9UM63-1]
NP_001275975.1, NM_001289046.1 [Q9UM63-1]
NP_001275976.1, NM_001289047.1 [Q9UM63-1]
NP_001275977.1, NM_001289048.1 [Q9UM63-1]
NP_001275978.1, NM_001289049.1 [Q9UM63-1]
NP_001304085.1, NM_001317156.1 [Q9UM63-1]
NP_001304086.1, NM_001317157.1 [Q9UM63-1]
NP_001304087.1, NM_001317158.1 [Q9UM63-2]
NP_001304088.1, NM_001317159.1 [Q9UM63-1]
NP_001304089.1, NM_001317160.1 [Q9UM63-2]
NP_001304090.1, NM_001317161.1 [Q9UM63-1]
NP_001304091.1, NM_001317162.1 [Q9UM63-1]
NP_006709.2, NM_006718.4 [Q9UM63-1]
UniGeneiHs.743225

Genome annotation databases

EnsembliENST00000354765; ENSP00000346810; ENSG00000118495 [Q9UM63-1]
ENST00000360537; ENSP00000353734; ENSG00000118495 [Q9UM63-1]
ENST00000367571; ENSP00000356543; ENSG00000118495 [Q9UM63-1]
ENST00000367572; ENSP00000356544; ENSG00000118495 [Q9UM63-2]
ENST00000416623; ENSP00000400060; ENSG00000118495 [Q9UM63-1]
ENST00000417959; ENSP00000395960; ENSG00000118495 [Q9UM63-2]
ENST00000437412; ENSP00000392418; ENSG00000118495 [Q9UM63-2]
ENST00000444202; ENSP00000400929; ENSG00000118495 [Q9UM63-1]
ENST00000625622; ENSP00000486355; ENSG00000118495 [Q9UM63-1]
GeneIDi5325
KEGGihsa:5325
UCSCiuc003qjv.4 human [Q9UM63-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U72621 mRNA Translation: AAB67041.1
U81992 mRNA Translation: AAC34250.1
AJ006354 mRNA Translation: CAA06994.1
AJ303119 mRNA Translation: CAC39614.1
AJ311395 mRNA Translation: CAC39615.1
AK314570 mRNA Translation: BAG37151.1
AK315184 mRNA Translation: BAG37625.1
BX537397 mRNA Translation: CAD97639.1
AL049844 Genomic DNA No translation available.
CH471051 Genomic DNA Translation: EAW47852.1
CH471051 Genomic DNA Translation: EAW47853.1
CH471051 Genomic DNA Translation: EAW47854.1
CH471051 Genomic DNA Translation: EAW47855.1
CH471051 Genomic DNA Translation: EAW47856.1
BC074814 mRNA Translation: AAH74814.1
BC109085 mRNA Translation: AAI09086.1
BC109086 mRNA Translation: AAI09087.1
CCDSiCCDS5202.1 [Q9UM63-1]
CCDS5203.1 [Q9UM63-2]
RefSeqiNP_001074420.1, NM_001080951.2 [Q9UM63-1]
NP_001074421.1, NM_001080952.2 [Q9UM63-1]
NP_001074422.1, NM_001080953.2 [Q9UM63-1]
NP_001074423.1, NM_001080954.2 [Q9UM63-1]
NP_001074424.1, NM_001080955.2 [Q9UM63-2]
NP_001074425.1, NM_001080956.2 [Q9UM63-2]
NP_001275966.1, NM_001289037.1 [Q9UM63-2]
NP_001275967.1, NM_001289038.1 [Q9UM63-2]
NP_001275968.1, NM_001289039.1 [Q9UM63-2]
NP_001275969.1, NM_001289040.1 [Q9UM63-2]
NP_001275970.1, NM_001289041.1 [Q9UM63-2]
NP_001275971.1, NM_001289042.1 [Q9UM63-1]
NP_001275972.1, NM_001289043.1 [Q9UM63-1]
NP_001275973.1, NM_001289044.1 [Q9UM63-1]
NP_001275974.1, NM_001289045.1 [Q9UM63-1]
NP_001275975.1, NM_001289046.1 [Q9UM63-1]
NP_001275976.1, NM_001289047.1 [Q9UM63-1]
NP_001275977.1, NM_001289048.1 [Q9UM63-1]
NP_001275978.1, NM_001289049.1 [Q9UM63-1]
NP_001304085.1, NM_001317156.1 [Q9UM63-1]
NP_001304086.1, NM_001317157.1 [Q9UM63-1]
NP_001304087.1, NM_001317158.1 [Q9UM63-2]
NP_001304088.1, NM_001317159.1 [Q9UM63-1]
NP_001304089.1, NM_001317160.1 [Q9UM63-2]
NP_001304090.1, NM_001317161.1 [Q9UM63-1]
NP_001304091.1, NM_001317162.1 [Q9UM63-1]
NP_006709.2, NM_006718.4 [Q9UM63-1]
UniGeneiHs.743225

3D structure databases

ProteinModelPortaliQ9UM63
SMRiQ9UM63
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi111341, 13 interactors
IntActiQ9UM63, 2 interactors
MINTiQ9UM63
STRINGi9606.ENSP00000346810

PTM databases

iPTMnetiQ9UM63
PhosphoSitePlusiQ9UM63

Polymorphism and mutation databases

BioMutaiPLAGL1
DMDMi158523334

Proteomic databases

PaxDbiQ9UM63
PeptideAtlasiQ9UM63
PRIDEiQ9UM63
ProteomicsDBi85183
85184 [Q9UM63-2]

Protocols and materials databases

DNASUi5325
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000354765; ENSP00000346810; ENSG00000118495 [Q9UM63-1]
ENST00000360537; ENSP00000353734; ENSG00000118495 [Q9UM63-1]
ENST00000367571; ENSP00000356543; ENSG00000118495 [Q9UM63-1]
ENST00000367572; ENSP00000356544; ENSG00000118495 [Q9UM63-2]
ENST00000416623; ENSP00000400060; ENSG00000118495 [Q9UM63-1]
ENST00000417959; ENSP00000395960; ENSG00000118495 [Q9UM63-2]
ENST00000437412; ENSP00000392418; ENSG00000118495 [Q9UM63-2]
ENST00000444202; ENSP00000400929; ENSG00000118495 [Q9UM63-1]
ENST00000625622; ENSP00000486355; ENSG00000118495 [Q9UM63-1]
GeneIDi5325
KEGGihsa:5325
UCSCiuc003qjv.4 human [Q9UM63-1]

Organism-specific databases

CTDi5325
DisGeNETi5325
EuPathDBiHostDB:ENSG00000118495.18
GeneCardsiPLAGL1
GeneReviewsiPLAGL1
HGNCiHGNC:9046 PLAGL1
HPAiHPA055706
MalaCardsiPLAGL1
MIMi601410 phenotype
603044 gene
neXtProtiNX_Q9UM63
OpenTargetsiENSG00000118495
Orphaneti96191 Paternal uniparental disomy of chromosome 6
99886 Transient neonatal diabetes mellitus
PharmGKBiPA33379
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1721 Eukaryota
COG5048 LUCA
GeneTreeiENSGT00390000013640
HOVERGENiHBG053608
InParanoidiQ9UM63
KOiK19485
OMAiQCDHCER
OrthoDBiEOG091G061O
PhylomeDBiQ9UM63
TreeFamiTF332024

Enzyme and pathway databases

ReactomeiR-HSA-6804115 TP53 regulates transcription of additional cell cycle genes whose exact role in the p53 pathway remain uncertain
SIGNORiQ9UM63

Miscellaneous databases

ChiTaRSiPLAGL1 human
GeneWikiiPLAGL1
GenomeRNAii5325
PROiPR:Q9UM63
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000118495 Expressed in 233 organ(s), highest expression level in metanephros
CleanExiHS_PLAGL1
ExpressionAtlasiQ9UM63 baseline and differential
GenevisibleiQ9UM63 HS

Family and domain databases

InterProiView protein in InterPro
IPR027770 PLAGL1
IPR036236 Znf_C2H2_sf
IPR013087 Znf_C2H2_type
PANTHERiPTHR45218 PTHR45218, 1 hit
SMARTiView protein in SMART
SM00355 ZnF_C2H2, 7 hits
SUPFAMiSSF57667 SSF57667, 3 hits
PROSITEiView protein in PROSITE
PS00028 ZINC_FINGER_C2H2_1, 7 hits
PS50157 ZINC_FINGER_C2H2_2, 7 hits
ProtoNetiSearch...

Entry informationi

Entry nameiPLAL1_HUMAN
AccessioniPrimary (citable) accession number: Q9UM63
Secondary accession number(s): B2RBA4
, B2RCM8, E1P595, E1P597, O76019, Q7Z3V8, Q92981, Q96JR9, Q9UIZ0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 20, 2001
Last sequence update: September 11, 2007
Last modified: September 12, 2018
This is version 162 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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