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UniProtKB - Q9UM63 (PLAL1_HUMAN)
Protein
Zinc finger protein PLAGL1
Gene
PLAGL1
Organism
Homo sapiens (Human)
Status
Functioni
Acts as a transcriptional activator (PubMed:9722527).
Involved in the transcriptional regulation of type 1 receptor for pituitary adenylate cyclase-activating polypeptide.
2 PublicationsRegions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Zinc fingeri | 4 – 26 | C2H2-type 1PROSITE-ProRule annotationAdd BLAST | 23 | |
Zinc fingeri | 32 – 56 | C2H2-type 2PROSITE-ProRule annotationAdd BLAST | 25 | |
Zinc fingeri | 62 – 84 | C2H2-type 3PROSITE-ProRule annotationAdd BLAST | 23 | |
Zinc fingeri | 91 – 113 | C2H2-type 4PROSITE-ProRule annotationAdd BLAST | 23 | |
Zinc fingeri | 120 – 142 | C2H2-type 5PROSITE-ProRule annotationAdd BLAST | 23 | |
Zinc fingeri | 156 – 178 | C2H2-type 6PROSITE-ProRule annotationAdd BLAST | 23 | |
Zinc fingeri | 184 – 207 | C2H2-type 7PROSITE-ProRule annotationAdd BLAST | 24 |
GO - Molecular functioni
- DNA binding Source: MGI
- DNA-binding transcription activator activity, RNA polymerase II-specific Source: NTNU_SB
- DNA-binding transcription repressor activity, RNA polymerase II-specific Source: GO_Central
- metal ion binding Source: UniProtKB-KW
- RNA polymerase II cis-regulatory region sequence-specific DNA binding Source: GO_Central
- RNA polymerase II transcription regulatory region sequence-specific DNA binding Source: NTNU_SB
GO - Biological processi
- apoptotic process Source: ProtInc
- positive regulation of transcription by RNA polymerase II Source: NTNU_SB
- regulation of cell cycle Source: ProtInc
- regulation of transcription by RNA polymerase II Source: GO_Central
Keywordsi
Molecular function | Activator, DNA-binding |
Biological process | Transcription, Transcription regulation |
Ligand | Metal-binding, Zinc |
Enzyme and pathway databases
PathwayCommonsi | Q9UM63 |
Reactomei | R-HSA-6804115, TP53 regulates transcription of additional cell cycle genes whose exact role in the p53 pathway remain uncertain |
SignaLinki | Q9UM63 |
SIGNORi | Q9UM63 |
Names & Taxonomyi
Protein namesi | Recommended name: Zinc finger protein PLAGL1Alternative 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 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:9046, PLAGL1 |
MIMi | 603044, gene |
neXtProti | NX_Q9UM63 |
VEuPathDBi | HostDB:ENSG00000118495 |
Subcellular locationi
Nucleus
- Nucleus 2 Publications
Golgi apparatus
- Golgi apparatus Source: HPA
Nucleus
- nuclear body Source: HPA
- nucleoplasm Source: GO_Central
Other locations
- intracellular membrane-bounded organelle Source: HPA
Keywords - Cellular componenti
NucleusPathology & Biotechi
Involvement in diseasei
Diabetes mellitus, transient neonatal, 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 descriptionAn autosomal dominant form of diabetes mellitus defined by the onset of mild-to-severe hyperglycemia within the first month 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.
Related information in OMIMKeywords - Diseasei
Diabetes mellitusOrganism-specific databases
DisGeNETi | 5325 |
GeneReviewsi | PLAGL1 |
MalaCardsi | PLAGL1 |
MIMi | 601410, phenotype |
OpenTargetsi | ENSG00000118495 |
Orphaneti | 96191, Paternal uniparental disomy of chromosome 6 99886, Transient neonatal diabetes mellitus |
PharmGKBi | PA33379 |
Miscellaneous databases
Pharosi | Q9UM63, Tbio |
Genetic variation databases
BioMutai | PLAGL1 |
DMDMi | 158523334 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000047222 | 1 – 463 | Zinc finger protein PLAGL1Add BLAST | 463 |
Proteomic databases
jPOSTi | Q9UM63 |
MassIVEi | Q9UM63 |
MaxQBi | Q9UM63 |
PaxDbi | Q9UM63 |
PeptideAtlasi | Q9UM63 |
PRIDEi | Q9UM63 |
ProteomicsDBi | 85183 [Q9UM63-1] 85184 [Q9UM63-2] |
PTM databases
iPTMneti | Q9UM63 |
PhosphoSitePlusi | Q9UM63 |
Expressioni
Gene expression databases
Bgeei | ENSG00000118495, Expressed in metanephros and 241 other tissues |
ExpressionAtlasi | Q9UM63, baseline and differential |
Genevisiblei | Q9UM63, HS |
Organism-specific databases
HPAi | ENSG00000118495, Tissue enhanced (placenta) |
Interactioni
Subunit structurei
Interacts with THRSP.
1 PublicationBinary interactionsi
Q9UM63
With | #Exp. | IntAct |
---|---|---|
KANK2 [Q63ZY3] | 3 | EBI-7233410,EBI-2556193 |
TLE5 - isoform 2 [Q08117-2] | 3 | EBI-7233410,EBI-11741437 |
Protein-protein interaction databases
BioGRIDi | 111341, 15 interactors |
IntActi | Q9UM63, 3 interactors |
MINTi | Q9UM63 |
STRINGi | 9606.ENSP00000353734 |
Miscellaneous databases
RNActi | Q9UM63, protein |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 268 – 306 | DisorderedSequence analysisAdd BLAST | 39 |
Sequence similaritiesi
Belongs to the krueppel C2H2-type zinc-finger protein family.Curated
Zinc finger
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Zinc fingeri | 4 – 26 | C2H2-type 1PROSITE-ProRule annotationAdd BLAST | 23 | |
Zinc fingeri | 32 – 56 | C2H2-type 2PROSITE-ProRule annotationAdd BLAST | 25 | |
Zinc fingeri | 62 – 84 | C2H2-type 3PROSITE-ProRule annotationAdd BLAST | 23 | |
Zinc fingeri | 91 – 113 | C2H2-type 4PROSITE-ProRule annotationAdd BLAST | 23 | |
Zinc fingeri | 120 – 142 | C2H2-type 5PROSITE-ProRule annotationAdd BLAST | 23 | |
Zinc fingeri | 156 – 178 | C2H2-type 6PROSITE-ProRule annotationAdd BLAST | 23 | |
Zinc fingeri | 184 – 207 | C2H2-type 7PROSITE-ProRule annotationAdd BLAST | 24 |
Keywords - Domaini
Repeat, Zinc-fingerPhylogenomic databases
eggNOGi | KOG1721, Eukaryota |
GeneTreei | ENSGT00940000162004 |
HOGENOMi | CLU_002678_66_1_1 |
InParanoidi | Q9UM63 |
OMAi | STDLLWC |
PhylomeDBi | Q9UM63 |
TreeFami | TF332024 |
Family and domain databases
InterProi | View protein in InterPro IPR027770, PLAGL1 IPR036236, Znf_C2H2_sf IPR013087, Znf_C2H2_type |
PANTHERi | PTHR24399:SF31, PTHR24399:SF31, 1 hit |
Pfami | View protein in Pfam PF00096, zf-C2H2, 2 hits |
SMARTi | View protein in SMART SM00355, ZnF_C2H2, 7 hits |
SUPFAMi | SSF57667, SSF57667, 3 hits |
PROSITEi | View protein in PROSITE PS00028, ZINC_FINGER_C2H2_1, 7 hits PS50157, ZINC_FINGER_C2H2_2, 7 hits |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 8 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: Q9UM63-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There are 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketQ68DN7 | Q68DN7_HUMAN | Uncharacterized protein DKFZp781P10... | PLAGL1 DKFZp781P1017 | 252 | Annotation score: | ||
A1YLA1 | A1YLA1_HUMAN | Pleiomorphic adenoma gene-like prot... | PLAGL1 | 64 | Annotation score: | ||
A0A0D9SFI7 | A0A0D9SFI7_HUMAN | Zinc finger protein PLAGL1 | PLAGL1 | 102 | Annotation score: | ||
A0A3B3IRN7 | A0A3B3IRN7_HUMAN | Zinc finger protein PLAGL1 | PLAGL1 | 173 | Annotation score: | ||
A0A0D9SEQ4 | A0A0D9SEQ4_HUMAN | Zinc finger protein PLAGL1 | PLAGL1 | 73 | Annotation score: | ||
A0A0D9SFM8 | A0A0D9SFM8_HUMAN | Zinc finger protein PLAGL1 | PLAGL1 | 74 | Annotation score: | ||
A0A0D9SGF7 | A0A0D9SGF7_HUMAN | Zinc finger protein PLAGL1 | PLAGL1 | 80 | Annotation score: | ||
A1YLA2 | A1YLA2_HUMAN | Pleiomorphic adenoma gene-like prot... | PLAGL1 | 12 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 81 | L → F in AAB67041 (PubMed:9150364).Curated | 1 | |
Sequence conflicti | 197 | D → V in AAC34250 (PubMed:9722527).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_052729 | 272 | A → V. Corresponds to variant dbSNP:rs35263016EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_028123 | 1 – 52 | Missing in isoform 2. 4 PublicationsAdd BLAST | 52 |
Sequence databases
Genome annotation databases
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Web resourcesi
Atlas of Genetics and Cytogenetics in Oncology and Haematology |
Sequence databases
3D structure databases
SMRi | Q9UM63 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 111341, 15 interactors |
IntActi | Q9UM63, 3 interactors |
MINTi | Q9UM63 |
STRINGi | 9606.ENSP00000353734 |
PTM databases
iPTMneti | Q9UM63 |
PhosphoSitePlusi | Q9UM63 |
Genetic variation databases
BioMutai | PLAGL1 |
DMDMi | 158523334 |
Proteomic databases
jPOSTi | Q9UM63 |
MassIVEi | Q9UM63 |
MaxQBi | Q9UM63 |
PaxDbi | Q9UM63 |
PeptideAtlasi | Q9UM63 |
PRIDEi | Q9UM63 |
ProteomicsDBi | 85183 [Q9UM63-1] 85184 [Q9UM63-2] |
Protocols and materials databases
Antibodypediai | 19825, 235 antibodies from 30 providers |
DNASUi | 5325 |
Genome annotation databases
Organism-specific databases
CTDi | 5325 |
DisGeNETi | 5325 |
GeneCardsi | PLAGL1 |
GeneReviewsi | PLAGL1 |
HGNCi | HGNC:9046, PLAGL1 |
HPAi | ENSG00000118495, Tissue enhanced (placenta) |
MalaCardsi | PLAGL1 |
MIMi | 601410, phenotype 603044, gene |
neXtProti | NX_Q9UM63 |
OpenTargetsi | ENSG00000118495 |
Orphaneti | 96191, Paternal uniparental disomy of chromosome 6 99886, Transient neonatal diabetes mellitus |
PharmGKBi | PA33379 |
VEuPathDBi | HostDB:ENSG00000118495 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1721, Eukaryota |
GeneTreei | ENSGT00940000162004 |
HOGENOMi | CLU_002678_66_1_1 |
InParanoidi | Q9UM63 |
OMAi | STDLLWC |
PhylomeDBi | Q9UM63 |
TreeFami | TF332024 |
Enzyme and pathway databases
PathwayCommonsi | Q9UM63 |
Reactomei | R-HSA-6804115, TP53 regulates transcription of additional cell cycle genes whose exact role in the p53 pathway remain uncertain |
SignaLinki | Q9UM63 |
SIGNORi | Q9UM63 |
Miscellaneous databases
BioGRID-ORCSi | 5325, 10 hits in 1070 CRISPR screens |
ChiTaRSi | PLAGL1, human |
GeneWikii | PLAGL1 |
GenomeRNAii | 5325 |
Pharosi | Q9UM63, Tbio |
PROi | PR:Q9UM63 |
RNActi | Q9UM63, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000118495, Expressed in metanephros and 241 other tissues |
ExpressionAtlasi | Q9UM63, baseline and differential |
Genevisiblei | Q9UM63, HS |
Family and domain databases
InterProi | View protein in InterPro IPR027770, PLAGL1 IPR036236, Znf_C2H2_sf IPR013087, Znf_C2H2_type |
PANTHERi | PTHR24399:SF31, PTHR24399:SF31, 1 hit |
Pfami | View protein in Pfam PF00096, zf-C2H2, 2 hits |
SMARTi | View protein in SMART SM00355, ZnF_C2H2, 7 hits |
SUPFAMi | SSF57667, SSF57667, 3 hits |
PROSITEi | View protein in PROSITE PS00028, ZINC_FINGER_C2H2_1, 7 hits PS50157, ZINC_FINGER_C2H2_2, 7 hits |
MobiDBi | Search... |
Entry informationi
Entry namei | PLAL1_HUMAN | |
Accessioni | Q9UM63Primary (citable) accession number: Q9UM63 Secondary accession number(s): B2RBA4 Q9UIZ0 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | June 20, 2001 |
Last sequence update: | September 11, 2007 | |
Last modified: | February 23, 2022 | |
This is version 184 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human chromosome 6
Human chromosome 6: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families