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UniProtKB - Q9UM63 (PLAL1_HUMAN)

Entry version 184 (23 Feb 2022)
Sequence version 2 (11 Sep 2007)
Previous versions | rss
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Protein

Zinc finger protein PLAGL1

Gene

PLAGL1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section specifies the position(s) and type(s) of zinc fingers within the protein.<p><a href='/help/zn_fing' target='_top'>More...</a></p>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

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

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

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q9UM63

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-6804115, TP53 regulates transcription of additional cell cycle genes whose exact role in the p53 pathway remain uncertain

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		Q9UM63

SIGNOR Signaling Network Open Resource

More...SIGNORi		Q9UM63

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:PLAGL1
Synonyms:LOT1, ZAC
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 6

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:9046, PLAGL1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		603044, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9UM63

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000118495

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Keywords - Cellular componenti

Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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 OMIM

Keywords - Diseasei

Diabetes mellitus

Organism-specific databases

DisGeNET

More...DisGeNETi		5325

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		PLAGL1

MalaCards human disease database

More...MalaCardsi		PLAGL1
MIMi601410, phenotype

Open Targets

More...OpenTargetsi		ENSG00000118495

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		96191, Paternal uniparental disomy of chromosome 6
99886, Transient neonatal diabetes mellitus

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA33379

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q9UM63, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		PLAGL1

Domain mapping of disease mutations (DMDM)

More...DMDMi		158523334

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000472221 – 463Zinc finger protein PLAGL1Add BLAST463

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q9UM63

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q9UM63

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q9UM63

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q9UM63

PeptideAtlas

More...PeptideAtlasi		Q9UM63

PRoteomics IDEntifications database

More...PRIDEi		Q9UM63

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		85183 [Q9UM63-1]
85184 [Q9UM63-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9UM63

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q9UM63

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000118495, Expressed in metanephros and 241 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q9UM63, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9UM63, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000118495, Tissue enhanced (placenta)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with THRSP.

1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		111341, 15 interactors

Protein interaction database and analysis system

More...IntActi		Q9UM63, 3 interactors

Molecular INTeraction database

More...MINTi		Q9UM63

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000353734

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q9UM63, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q9UM63

Database of comparative protein structure models

More...ModBasei		Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni268 – 306DisorderedSequence analysisAdd BLAST39

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the krueppel C2H2-type zinc-finger protein family.Curated

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

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG1721, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000162004

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_002678_66_1_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9UM63

Identification of Orthologs from Complete Genome Data

More...OMAi		STDLLWC

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9UM63

TreeFam database of animal gene trees

More...TreeFami		TF332024

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR027770, PLAGL1
IPR036236, Znf_C2H2_sf
IPR013087, Znf_C2H2_type

The PANTHER Classification System

More...PANTHERi		PTHR24399:SF31, PTHR24399:SF31, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00096, zf-C2H2, 2 hits

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00355, ZnF_C2H2, 7 hits

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF57667, SSF57667, 3 hits

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS00028, ZINC_FINGER_C2H2_1, 7 hits
PS50157, ZINC_FINGER_C2H2_2, 7 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This 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 <p><strong>What is the canonical sequence?</strong><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q68DN7Q68DN7_HUMAN
Uncharacterized protein DKFZp781P10...
PLAGL1 DKFZp781P1017
252Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A1YLA1A1YLA1_HUMAN
Pleiomorphic adenoma gene-like prot...
PLAGL1
64Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0D9SFI7A0A0D9SFI7_HUMAN
Zinc finger protein PLAGL1
PLAGL1
102Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A3B3IRN7A0A3B3IRN7_HUMAN
Zinc finger protein PLAGL1
PLAGL1
173Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0D9SEQ4A0A0D9SEQ4_HUMAN
Zinc finger protein PLAGL1
PLAGL1
73Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0D9SFM8A0A0D9SFM8_HUMAN
Zinc finger protein PLAGL1
PLAGL1
74Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0D9SGF7A0A0D9SGF7_HUMAN
Zinc finger protein PLAGL1
PLAGL1
80Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A1YLA2A1YLA2_HUMAN
Pleiomorphic adenoma gene-like prot...
PLAGL1
12Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti81L → F in AAB67041 (PubMed:9150364).Curated1
Sequence conflicti197D → V in AAC34250 (PubMed:9722527).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_052729272A → V. Corresponds to variant dbSNP:rs35263016EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0281231 – 52Missing in isoform 2. 4 PublicationsAdd BLAST52

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...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

The Consensus CDS (CCDS) project

More...CCDSi		CCDS5202.1 [Q9UM63-1]
CCDS5203.1 [Q9UM63-2]

NCBI Reference Sequences

More...RefSeqi		NP_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]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000354765; ENSP00000346810; ENSG00000118495
ENST00000360537; ENSP00000353734; ENSG00000118495
ENST00000367571; ENSP00000356543; ENSG00000118495
ENST00000367572; ENSP00000356544; ENSG00000118495 [Q9UM63-2]
ENST00000416623; ENSP00000400060; ENSG00000118495
ENST00000417959; ENSP00000395960; ENSG00000118495 [Q9UM63-2]
ENST00000437412; ENSP00000392418; ENSG00000118495 [Q9UM63-2]
ENST00000444202; ENSP00000400929; ENSG00000118495
ENST00000625622; ENSP00000486355; ENSG00000118495
ENST00000647880; ENSP00000496815; ENSG00000118495 [Q9UM63-2]
ENST00000649211; ENSP00000497492; ENSG00000118495
ENST00000649307; ENSP00000496979; ENSG00000118495
ENST00000650125; ENSP00000497363; ENSG00000118495
ENST00000674357; ENSP00000501459; ENSG00000118495

Database of genes from NCBI RefSeq genomes

More...GeneIDi		5325

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:5325

Matched Annotation from NCBI and EMBL-EBI (MANE) - Phase one

More...MANE-Selecti		ENST00000674357.1; ENSP00000501459.1; NM_001317162.2; NP_001304091.1

UCSC genome browser

More...UCSCi		uc003qjv.4, human [Q9UM63-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross%5Freferences%5Fsection">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>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]

3D structure databases

SMRiQ9UM63
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi111341, 15 interactors
IntActiQ9UM63, 3 interactors
MINTiQ9UM63
STRINGi9606.ENSP00000353734

PTM databases

iPTMnetiQ9UM63
PhosphoSitePlusiQ9UM63

Genetic variation databases

BioMutaiPLAGL1
DMDMi158523334

Proteomic databases

jPOSTiQ9UM63
MassIVEiQ9UM63
MaxQBiQ9UM63
PaxDbiQ9UM63
PeptideAtlasiQ9UM63
PRIDEiQ9UM63
ProteomicsDBi85183 [Q9UM63-1]
85184 [Q9UM63-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		19825, 235 antibodies from 30 providers

The DNASU plasmid repository

More...DNASUi		5325

Genome annotation databases

EnsembliENST00000354765; ENSP00000346810; ENSG00000118495
ENST00000360537; ENSP00000353734; ENSG00000118495
ENST00000367571; ENSP00000356543; ENSG00000118495
ENST00000367572; ENSP00000356544; ENSG00000118495 [Q9UM63-2]
ENST00000416623; ENSP00000400060; ENSG00000118495
ENST00000417959; ENSP00000395960; ENSG00000118495 [Q9UM63-2]
ENST00000437412; ENSP00000392418; ENSG00000118495 [Q9UM63-2]
ENST00000444202; ENSP00000400929; ENSG00000118495
ENST00000625622; ENSP00000486355; ENSG00000118495
ENST00000647880; ENSP00000496815; ENSG00000118495 [Q9UM63-2]
ENST00000649211; ENSP00000497492; ENSG00000118495
ENST00000649307; ENSP00000496979; ENSG00000118495
ENST00000650125; ENSP00000497363; ENSG00000118495
ENST00000674357; ENSP00000501459; ENSG00000118495
GeneIDi5325
KEGGihsa:5325
MANE-SelectiENST00000674357.1; ENSP00000501459.1; NM_001317162.2; NP_001304091.1
UCSCiuc003qjv.4, human [Q9UM63-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		5325
DisGeNETi5325

GeneCards: human genes, protein and diseases

More...GeneCardsi		PLAGL1
GeneReviewsiPLAGL1
HGNCiHGNC:9046, PLAGL1
HPAiENSG00000118495, Tissue enhanced (placenta)
MalaCardsiPLAGL1
MIMi601410, phenotype
603044, gene
neXtProtiNX_Q9UM63
OpenTargetsiENSG00000118495
Orphaneti96191, Paternal uniparental disomy of chromosome 6
99886, Transient neonatal diabetes mellitus
PharmGKBiPA33379
VEuPathDBiHostDB:ENSG00000118495

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG1721, Eukaryota
GeneTreeiENSGT00940000162004
HOGENOMiCLU_002678_66_1_1
InParanoidiQ9UM63
OMAiSTDLLWC
PhylomeDBiQ9UM63
TreeFamiTF332024

Enzyme and pathway databases

PathwayCommonsiQ9UM63
ReactomeiR-HSA-6804115, TP53 regulates transcription of additional cell cycle genes whose exact role in the p53 pathway remain uncertain
SignaLinkiQ9UM63
SIGNORiQ9UM63

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		5325, 10 hits in 1070 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		PLAGL1, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		PLAGL1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		5325
PharosiQ9UM63, Tbio

Protein Ontology

More...PROi		PR:Q9UM63
RNActiQ9UM63, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000118495, Expressed in metanephros and 241 other tissues
ExpressionAtlasiQ9UM63, baseline and differential
GenevisibleiQ9UM63, HS

Family and domain databases

InterProiView protein in InterPro
IPR027770, PLAGL1
IPR036236, Znf_C2H2_sf
IPR013087, Znf_C2H2_type
PANTHERiPTHR24399:SF31, PTHR24399:SF31, 1 hit
PfamiView protein in Pfam
PF00096, zf-C2H2, 2 hits
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

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiPLAL1_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9UM63
Secondary accession number(s): B2RBA4
, B2RCM8, E1P595, E1P597, O76019, Q7Z3V8, Q92981, Q96JR9, Q9UIZ0
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated 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.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families
UniProt is an ELIXIR core data resource
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