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UniProtKB - P43694 (GATA4_HUMAN)

Entry version 199 (02 Dec 2020)
Sequence version 2 (25 Nov 2008)
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Protein

Transcription factor GATA-4

Gene

GATA4

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

Transcriptional activator that binds to the consensus sequence 5'-AGATAG-3' and plays a key role in cardiac development and function (PubMed:24000169, PubMed:27984724). In cooperation with TBX5, it binds to cardiac super-enhancers and promotes cardiomyocyte gene expression, while it downregulates endocardial and endothelial gene expression (PubMed:27984724). Involved in bone morphogenetic protein (BMP)-mediated induction of cardiac-specific gene expression. Binds to BMP response element (BMPRE) DNA sequences within cardiac activating regions (By similarity). Acts as a transcriptional activator of ANF in cooperation with NKX2-5 (By similarity). Promotes cardiac myocyte enlargement (PubMed:20081228). Required during testicular development (PubMed:21220346). May play a role in sphingolipid signaling by regulating the expression of sphingosine-1-phosphate degrading enzyme, sphingosine-1-phosphate lyase (PubMed:15734735).By similarity5 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 fingeri217 – 241GATA-type 1PROSITE-ProRule annotationAdd BLAST25
Zinc fingeri271 – 295GATA-type 2PROSITE-ProRule annotationAdd BLAST25

<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		P43694

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-2032785, YAP1- and WWTR1 (TAZ)-stimulated gene expression
R-HSA-400511, Synthesis, secretion, and inactivation of Glucose-dependent Insulinotropic Polypeptide (GIP)
R-HSA-5578768, Physiological factors
R-HSA-983231, Factors involved in megakaryocyte development and platelet production

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

More...SignaLinki		P43694

SIGNOR Signaling Network Open Resource

More...SIGNORi		P43694

<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:
Transcription factor GATA-4
Alternative name(s):
GATA-binding factor 4
<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:GATA4
<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> Componentsi: Chromosome 8, Unplaced

Organism-specific databases

Eukaryotic Pathogen and Host Database Resources

More...EuPathDBi		HostDB:ENSG00000136574.17

Human Gene Nomenclature Database

More...HGNCi		HGNC:4173, GATA4

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		600576, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P43694

<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

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

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

Atrial septal defect 2 (ASD2)7 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA congenital heart malformation characterized by incomplete closure of the wall between the atria resulting in blood flow from the left to the right atria. Patients show other heart abnormalities including ventricular and atrioventricular septal defects, pulmonary valve thickening or insufficiency of the cardiac valves. The disease is not associated with defects in the cardiac conduction system or non-cardiac abnormalities.
Related information in OMIM
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_03819552S → F in ASD2. 1 PublicationCorresponds to variant dbSNP:rs104894074EnsemblClinVar.1
Natural variantiVAR_06760893G → A in ASD2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs56191129Ensembl.1
Natural variantiVAR_067611280T → M in ASD2. 1 PublicationCorresponds to variant dbSNP:rs387906771EnsemblClinVar.1
Natural variantiVAR_067612296G → C in ASD2. 1 PublicationCorresponds to variant dbSNP:rs104894073EnsemblClinVar.1
Natural variantiVAR_016204296G → S in ASD2; decreased function resulting in reduced myocardial genes expression; fails to downregulate endothelial and endocardial genes. 3 PublicationsCorresponds to variant dbSNP:rs104894073EnsemblClinVar.1
Natural variantiVAR_067614310M → V in ASD2. 1 PublicationCorresponds to variant dbSNP:rs387906772EnsemblClinVar.1
Natural variantiVAR_067615316Q → E in ASD2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs56298569EnsemblClinVar.1
Natural variantiVAR_067618403L → M in ASD2. 1 PublicationCorresponds to variant dbSNP:rs777778466Ensembl.1
Ventricular septal defect 1 (VSD1)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA common form of congenital cardiovascular anomaly that may occur alone or in combination with other cardiac malformations. It can affect any portion of the ventricular septum, resulting in abnormal communications between the two lower chambers of the heart. Classification is based on location of the communication, such as perimembranous, inlet, outlet (infundibular), central muscular, marginal muscular, or apical muscular defect. Large defects that go unrepaired may give rise to cardiac enlargement, congestive heart failure, pulmonary hypertension, Eisenmenger's syndrome, delayed fetal brain development, arrhythmias, and even sudden cardiac death.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0676056A → V in VSD1. 1 PublicationCorresponds to variant dbSNP:rs199922907Ensembl.1
Natural variantiVAR_06760643R → W in VSD1; significantly reduced activation of the NPPA promoter with the mutant protein compared to wild-type. 1 PublicationCorresponds to variant dbSNP:rs387906770EnsemblClinVar.1
Natural variantiVAR_06760746Missing in VSD1. 1 Publication1
Natural variantiVAR_067613296G → R in VSD1. 1 PublicationCorresponds to variant dbSNP:rs104894073EnsemblClinVar.1
Natural variantiVAR_067617359E → K in VSD1. 1 PublicationCorresponds to variant dbSNP:rs368489876EnsemblClinVar.1
Natural variantiVAR_067619407P → Q in VSD1 and TOF; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs115099192EnsemblClinVar.1
Natural variantiVAR_067622429S → T in VSD1. 1 Publication1
Natural variantiVAR_067623442A → V in VSD1. 1 PublicationCorresponds to variant dbSNP:rs146017816EnsemblClinVar.1
Tetralogy of Fallot (TOF)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA congenital heart anomaly which consists of pulmonary stenosis, ventricular septal defect, dextroposition of the aorta (aorta is on the right side instead of the left) and hypertrophy of the right ventricle. In this condition, blood from both ventricles (oxygen-rich and oxygen-poor) is pumped into the body often causing cyanosis.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0715149A → P in TOF; slightly diminished DNA-binding affinity; decreased transcriptional activity; no effect on subcellular location; no effect on interaction with TBX5. 1 PublicationCorresponds to variant dbSNP:rs864321699Ensembl.1
Natural variantiVAR_07151551L → V in TOF; slightly diminished DNA-binding affinity; decreased transcriptional activity; no effect on subcellular location; no effect on interaction with TBX5. 1 Publication1
Natural variantiVAR_067609118A → AA in TOF. 1 Publication1
Natural variantiVAR_071516285N → S in TOF; drastically diminished DNA-binding affinity; decreased transcriptional activity; no effect on subcellular location; completely disrupted interaction with TBX5. 1 Publication1
Natural variantiVAR_067619407P → Q in VSD1 and TOF; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs115099192EnsemblClinVar.1
Atrioventricular septal defect 4 (AVSD4)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA congenital heart malformation characterized by a common atrioventricular junction coexisting with deficient atrioventricular septation. The complete form involves underdevelopment of the lower part of the atrial septum and the upper part of the ventricular septum; the valve itself is also shared. A less severe form, known as ostium primum atrial septal defect, is characterized by separate atrioventricular valvar orifices despite a common junction.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_067610163P → S in AVSD4; also in a patient with VSD1 and a patient with TOF. 3 PublicationsCorresponds to variant dbSNP:rs387906769EnsemblClinVar.1
Natural variantiVAR_067616346A → V in AVSD4. 1 PublicationCorresponds to variant dbSNP:rs115372595EnsemblClinVar.1
Testicular anomalies with or without congenital heart disease (TACHD)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 46,XY disorder of sex development with variable clinical presentation and defects in testicular differentiation and function. Clinical features include ambiguous genitalia, fused labioscrotal folds, hypospadias, microphallus, and bilateral inguinal hernia containing gonads.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_070670221G → R in TACHD; impairs the ability to bind and transactivate the promoter of AMH gene; abolishes interaction with ZFPM2. 1 PublicationCorresponds to variant dbSNP:rs398122402EnsemblClinVar.1
GATA4 mutations can predispose to dilated cardiomyopathy (CMD), a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.2 Publications

Keywords - Diseasei

Atrial septal defect, Cardiomyopathy, Disease mutation

Organism-specific databases

DisGeNET

More...DisGeNETi		2626

MalaCards human disease database

More...MalaCardsi		GATA4
MIMi187500, phenotype
607941, phenotype
614429, phenotype
614430, phenotype
615542, phenotype

Open Targets

More...OpenTargetsi		ENSG00000136574

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

More...Orphaneti		251510, 46,XY partial gonadal dysgenesis
251071, 8p23.1 microdeletion syndrome
99103, Atrial septal defect, ostium secundum type
99067, Complete atrioventricular septal defect with ventricular hypoplasia
99068, Complete atrioventricular septal defect-tetralogy of Fallot
334, Familial atrial fibrillation
1480, NON RARE IN EUROPE: Ventricular septal defect
1330, Partial atrioventricular septal defect
3303, Tetralogy of Fallot

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA28587

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		P43694, Tbio

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL1687679

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		GATA4

Domain mapping of disease mutations (DMDM)

More...DMDMi		215274105

<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_00000834131 – 442Transcription factor GATA-4Add BLAST442

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei300N6-methyllysine; by EZH2By similarity1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Methylation at Lys-300 attenuates transcriptional activity.By similarity

Keywords - PTMi

Methylation

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		P43694

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		P43694

MaxQB - The MaxQuant DataBase

More...MaxQBi		P43694

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

More...PaxDbi		P43694

PeptideAtlas

More...PeptideAtlasi		P43694

PRoteomics IDEntifications database

More...PRIDEi		P43694

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		55652 [P43694-1]
7203

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P43694

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

More...PhosphoSitePlusi		P43694

<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		ENSG00000136574, Expressed in female gonad and 101 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		P43694, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P43694, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000136574, Tissue enhanced (heart muscle, intestine, ovary, pancreas)

<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 ZNF260 (By similarity).

Interacts with the homeobox domain of NKX2-5 through its C-terminal zinc finger.

Also interacts with JARID2 which represses its ability to activate transcription of ANF.

Interacts (via the second Zn finger) with NFATC4 (By similarity).

Interacts with LMCD1 (By similarity).

Forms a complex made of CDK9, CCNT1/cyclin-T1, EP300 and GATA4 that stimulates hypertrophy in cardiomyocytes.

Interacts with NR5A1, ZFPM2 and TBX5.

Interacts with TBX18.

By similarity3 Publications

<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

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		108896, 26 interactors

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		P43694

Protein interaction database and analysis system

More...IntActi		P43694, 6 interactors

Molecular INTeraction database

More...MINTi		P43694

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000334458

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		P43694, 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

Secondary structure

1442
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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

More...SMRi		P43694

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		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

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi118 – 126Poly-Ala9
Compositional biasi174 – 181Poly-Ala8
Compositional biasi276 – 280Poly-Thr5

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri217 – 241GATA-type 1PROSITE-ProRule annotationAdd BLAST25
Zinc fingeri271 – 295GATA-type 2PROSITE-ProRule annotationAdd BLAST25

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG1601, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000158349

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_027524_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P43694

Identification of Orthologs from Complete Genome Data

More...OMAi		KMSPGGH

Database of Orthologous Groups

More...OrthoDBi		807790at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		P43694

TreeFam database of animal gene trees

More...TreeFami		TF315391

Family and domain databases

Conserved Domains Database

More...CDDi		cd00202, ZnF_GATA, 2 hits

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		3.30.50.10, 2 hits

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR008013, GATA_N
IPR016375, TF_GATA_4/5/6
IPR039355, Transcription_factor_GATA
IPR000679, Znf_GATA
IPR013088, Znf_NHR/GATA

The PANTHER Classification System

More...PANTHERi		PTHR10071, PTHR10071, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00320, GATA, 2 hits
PF05349, GATA-N, 1 hit

PIRSF; a whole-protein classification database

More...PIRSFi		PIRSF003028, TF_GATA_4/5/6, 1 hit

Protein Motif fingerprint database; a protein domain database

More...PRINTSi		PR00619, GATAZNFINGER

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00401, ZnF_GATA, 2 hits

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS00344, GATA_ZN_FINGER_1, 2 hits
PS50114, GATA_ZN_FINGER_2, 2 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. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<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 6 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P43694-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><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.

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MYQSLAMAAN HGPPPGAYEA GGPGAFMHGA GAASSPVYVP TPRVPSSVLG 
        60         70         80         90        100
LSYLQGGGAG SASGGASGGS SGGAASGAGP GTQQGSPGWS QAGADGAAYT 
       110        120        130        140        150
PPPVSPRFSF PGTTGSLAAA AAAAAAREAA AYSSGGGAAG AGLAGREQYG 
       160        170        180        190        200
RAGFAGSYSS PYPAYMADVG ASWAAAAAAS AGPFDSPVLH SLPGRANPAA 
       210        220        230        240        250
RHPNLDMFDD FSEGRECVNC GAMSTPLWRR DGTGHYLCNA CGLYHKMNGI 
       260        270        280        290        300
NRPLIKPQRR LSASRRVGLS CANCQTTTTT LWRRNAEGEP VCNACGLYMK 
       310        320        330        340        350
LHGVPRPLAM RKEGIQTRKR KPKNLNKSKT PAAPSGSESL PPASGASSNS 
       360        370        380        390        400
SNATTSSSEE MRPIKTEPGL SSHYGHSSSV SQTFSVSAMS GHGPSIHPVL 
       410        420        430        440 
SALKLSPQGY ASPVSQSPQT SSKQDSWNSL VLADSHGDII TA
Length:442
Mass (Da):44,565
Last modified:November 25, 2008 - 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:i141B8CD841E12C7B
GO
Isoform 2 (identifier: P43694-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     205-205: L → LV

Show »
Length:443
Mass (Da):44,665
Checksum:iA9F8C9CA00F3B9AD
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 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A087WZ09A0A087WZ09_HUMAN
Transcription factor GATA-4
GATA4
441Annotation 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>
B3KUF4B3KUF4_HUMAN
Transcription factor GATA-4
GATA4
236Annotation 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>
E9PRI5E9PRI5_HUMAN
Transcription factor GATA-4
GATA4
116Annotation 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>
E9PKS4E9PKS4_HUMAN
Transcription factor GATA-4
GATA4
175Annotation 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>
R4GND5R4GND5_HUMAN
Transcription factor GATA-4
GATA4
23Annotation 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>
B6DU75B6DU75_HUMAN
GATA binding protein 4
GATA4
16Annotation 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 conflicti19E → Q in AAA58496 (PubMed:7721094).Curated1
Sequence conflicti25A → P in AAA58496 (PubMed:7721094).Curated1
Sequence conflicti66A → P in AAA58496 (PubMed:7721094).Curated1
Sequence conflicti71S → P in AAA58496 (PubMed:7721094).Curated1
Sequence conflicti95D → T in AAA58496 (PubMed:7721094).Curated1
Sequence conflicti280T → A in AAW51922 (Ref. 2) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0676056A → V in VSD1. 1 PublicationCorresponds to variant dbSNP:rs199922907Ensembl.1
Natural variantiVAR_0715149A → P in TOF; slightly diminished DNA-binding affinity; decreased transcriptional activity; no effect on subcellular location; no effect on interaction with TBX5. 1 PublicationCorresponds to variant dbSNP:rs864321699Ensembl.1
Natural variantiVAR_07211139V → L Probable disease-associated variant found in patients with dilated cardiomyopathy; results in significantly reduced transactivation activity. 2 PublicationsCorresponds to variant dbSNP:rs1139241Ensembl.1
Natural variantiVAR_06760643R → W in VSD1; significantly reduced activation of the NPPA promoter with the mutant protein compared to wild-type. 1 PublicationCorresponds to variant dbSNP:rs387906770EnsemblClinVar.1
Natural variantiVAR_06760746Missing in VSD1. 1 Publication1
Natural variantiVAR_07151551L → V in TOF; slightly diminished DNA-binding affinity; decreased transcriptional activity; no effect on subcellular location; no effect on interaction with TBX5. 1 Publication1
Natural variantiVAR_03819552S → F in ASD2. 1 PublicationCorresponds to variant dbSNP:rs104894074EnsemblClinVar.1
Natural variantiVAR_06760893G → A in ASD2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs56191129Ensembl.1
Natural variantiVAR_067609118A → AA in TOF. 1 Publication1
Natural variantiVAR_067610163P → S in AVSD4; also in a patient with VSD1 and a patient with TOF. 3 PublicationsCorresponds to variant dbSNP:rs387906769EnsemblClinVar.1
Natural variantiVAR_070670221G → R in TACHD; impairs the ability to bind and transactivate the promoter of AMH gene; abolishes interaction with ZFPM2. 1 PublicationCorresponds to variant dbSNP:rs398122402EnsemblClinVar.1
Natural variantiVAR_072112226P → Q Probable disease-associated variant found in patients with dilated cardiomyopathy; results in significantly reduced transactivation activity. 1 Publication1
Natural variantiVAR_072113271C → S Probable disease-associated variant found in patients with dilated cardiomyopathy; results in significantly reduced transactivation activity. 1 Publication1
Natural variantiVAR_072114279T → S Probable disease-associated variant found in patients with dilated cardiomyopathy; results in significantly reduced transactivation activity. 1 Publication1
Natural variantiVAR_067611280T → M in ASD2. 1 PublicationCorresponds to variant dbSNP:rs387906771EnsemblClinVar.1
Natural variantiVAR_071516285N → S in TOF; drastically diminished DNA-binding affinity; decreased transcriptional activity; no effect on subcellular location; completely disrupted interaction with TBX5. 1 Publication1
Natural variantiVAR_067612296G → C in ASD2. 1 PublicationCorresponds to variant dbSNP:rs104894073EnsemblClinVar.1
Natural variantiVAR_067613296G → R in VSD1. 1 PublicationCorresponds to variant dbSNP:rs104894073EnsemblClinVar.1
Natural variantiVAR_016204296G → S in ASD2; decreased function resulting in reduced myocardial genes expression; fails to downregulate endothelial and endocardial genes. 3 PublicationsCorresponds to variant dbSNP:rs104894073EnsemblClinVar.1
Natural variantiVAR_067614310M → V in ASD2. 1 PublicationCorresponds to variant dbSNP:rs387906772EnsemblClinVar.1
Natural variantiVAR_067615316Q → E in ASD2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs56298569EnsemblClinVar.1
Natural variantiVAR_067616346A → V in AVSD4. 1 PublicationCorresponds to variant dbSNP:rs115372595EnsemblClinVar.1
Natural variantiVAR_067617359E → K in VSD1. 1 PublicationCorresponds to variant dbSNP:rs368489876EnsemblClinVar.1
Natural variantiVAR_038196377S → G. Corresponds to variant dbSNP:rs3729856EnsemblClinVar.1
Natural variantiVAR_067618403L → M in ASD2. 1 PublicationCorresponds to variant dbSNP:rs777778466Ensembl.1
Natural variantiVAR_067619407P → Q in VSD1 and TOF; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs115099192EnsemblClinVar.1
Natural variantiVAR_067620411A → V1 PublicationCorresponds to variant dbSNP:rs55633527EnsemblClinVar.1
Natural variantiVAR_067621425D → N2 PublicationsCorresponds to variant dbSNP:rs56208331EnsemblClinVar.1
Natural variantiVAR_067622429S → T in VSD1. 1 Publication1
Natural variantiVAR_067623442A → V in VSD1. 1 PublicationCorresponds to variant dbSNP:rs146017816EnsemblClinVar.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_055082205L → LV in isoform 2. 1 Publication1

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
L34357 mRNA Translation: AAA58496.1
AY740706 mRNA Translation: AAW51922.1
AC069185 Genomic DNA No translation available.
AC090790 Genomic DNA No translation available.
BC101580 mRNA Translation: AAI01581.1
BC105108 mRNA Translation: AAI05109.1
BC143434 mRNA Translation: AAI43435.1
BC143479 mRNA Translation: AAI43480.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS5983.1 [P43694-1]
CCDS78303.1 [P43694-2]

NCBI Reference Sequences

More...RefSeqi		NP_001295022.1, NM_001308093.1 [P43694-2]
NP_002043.2, NM_002052.4 [P43694-1]
XP_005272442.1, XM_005272385.4 [P43694-2]
XP_005272443.1, XM_005272386.1
XP_006716311.1, XM_006716248.1
XP_011542119.1, XM_011543817.2 [P43694-2]
XP_011542120.1, XM_011543818.2 [P43694-2]
XP_016868801.1, XM_017013312.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000335135; ENSP00000334458; ENSG00000136574 [P43694-1]
ENST00000532059; ENSP00000435712; ENSG00000136574 [P43694-2]
ENST00000643249; ENSP00000493647; ENSG00000285109 [P43694-2]
ENST00000647274; ENSP00000495511; ENSG00000285109 [P43694-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		2626

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:2626

UCSC genome browser

More...UCSCi		uc003wuc.3, human [P43694-1]

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

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L34357 mRNA Translation: AAA58496.1
AY740706 mRNA Translation: AAW51922.1
AC069185 Genomic DNA No translation available.
AC090790 Genomic DNA No translation available.
BC101580 mRNA Translation: AAI01581.1
BC105108 mRNA Translation: AAI05109.1
BC143434 mRNA Translation: AAI43435.1
BC143479 mRNA Translation: AAI43480.1
CCDSiCCDS5983.1 [P43694-1]
CCDS78303.1 [P43694-2]
RefSeqiNP_001295022.1, NM_001308093.1 [P43694-2]
NP_002043.2, NM_002052.4 [P43694-1]
XP_005272442.1, XM_005272385.4 [P43694-2]
XP_005272443.1, XM_005272386.1
XP_006716311.1, XM_006716248.1
XP_011542119.1, XM_011543817.2 [P43694-2]
XP_011542120.1, XM_011543818.2 [P43694-2]
XP_016868801.1, XM_017013312.1

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2M9WNMR-A262-321[»]
SMRiP43694
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi108896, 26 interactors
CORUMiP43694
IntActiP43694, 6 interactors
MINTiP43694
STRINGi9606.ENSP00000334458

Chemistry databases

ChEMBLiCHEMBL1687679

PTM databases

iPTMnetiP43694
PhosphoSitePlusiP43694

Polymorphism and mutation databases

BioMutaiGATA4
DMDMi215274105

Proteomic databases

jPOSTiP43694
MassIVEiP43694
MaxQBiP43694
PaxDbiP43694
PeptideAtlasiP43694
PRIDEiP43694
ProteomicsDBi55652 [P43694-1]
7203

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		3405, 722 antibodies

Genome annotation databases

EnsembliENST00000335135; ENSP00000334458; ENSG00000136574 [P43694-1]
ENST00000532059; ENSP00000435712; ENSG00000136574 [P43694-2]
ENST00000643249; ENSP00000493647; ENSG00000285109 [P43694-2]
ENST00000647274; ENSP00000495511; ENSG00000285109 [P43694-1]
GeneIDi2626
KEGGihsa:2626
UCSCiuc003wuc.3, human [P43694-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		2626
DisGeNETi2626
EuPathDBiHostDB:ENSG00000136574.17

GeneCards: human genes, protein and diseases

More...GeneCardsi		GATA4
HGNCiHGNC:4173, GATA4
HPAiENSG00000136574, Tissue enhanced (heart muscle, intestine, ovary, pancreas)
MalaCardsiGATA4
MIMi187500, phenotype
600576, gene
607941, phenotype
614429, phenotype
614430, phenotype
615542, phenotype
neXtProtiNX_P43694
OpenTargetsiENSG00000136574
Orphaneti251510, 46,XY partial gonadal dysgenesis
251071, 8p23.1 microdeletion syndrome
99103, Atrial septal defect, ostium secundum type
99067, Complete atrioventricular septal defect with ventricular hypoplasia
99068, Complete atrioventricular septal defect-tetralogy of Fallot
334, Familial atrial fibrillation
1480, NON RARE IN EUROPE: Ventricular septal defect
1330, Partial atrioventricular septal defect
3303, Tetralogy of Fallot
PharmGKBiPA28587

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG1601, Eukaryota
GeneTreeiENSGT00940000158349
HOGENOMiCLU_027524_0_0_1
InParanoidiP43694
OMAiKMSPGGH
OrthoDBi807790at2759
PhylomeDBiP43694
TreeFamiTF315391

Enzyme and pathway databases

PathwayCommonsiP43694
ReactomeiR-HSA-2032785, YAP1- and WWTR1 (TAZ)-stimulated gene expression
R-HSA-400511, Synthesis, secretion, and inactivation of Glucose-dependent Insulinotropic Polypeptide (GIP)
R-HSA-5578768, Physiological factors
R-HSA-983231, Factors involved in megakaryocyte development and platelet production
SignaLinkiP43694
SIGNORiP43694

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		2626, 5 hits in 870 CRISPR screens

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

More...ChiTaRSi		GATA4, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		GATA4

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

More...GenomeRNAii		2626
PharosiP43694, Tbio

Protein Ontology

More...PROi		PR:P43694
RNActiP43694, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000136574, Expressed in female gonad and 101 other tissues
ExpressionAtlasiP43694, baseline and differential
GenevisibleiP43694, HS

Family and domain databases

CDDicd00202, ZnF_GATA, 2 hits
Gene3Di3.30.50.10, 2 hits
InterProiView protein in InterPro
IPR008013, GATA_N
IPR016375, TF_GATA_4/5/6
IPR039355, Transcription_factor_GATA
IPR000679, Znf_GATA
IPR013088, Znf_NHR/GATA
PANTHERiPTHR10071, PTHR10071, 1 hit
PfamiView protein in Pfam
PF00320, GATA, 2 hits
PF05349, GATA-N, 1 hit
PIRSFiPIRSF003028, TF_GATA_4/5/6, 1 hit
PRINTSiPR00619, GATAZNFINGER
SMARTiView protein in SMART
SM00401, ZnF_GATA, 2 hits
PROSITEiView protein in PROSITE
PS00344, GATA_ZN_FINGER_1, 2 hits
PS50114, GATA_ZN_FINGER_2, 2 hits

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

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 nameiGATA4_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: P43694
Secondary accession number(s): B7ZKX0
, B7ZKZ4, Q3MJ45, Q5IFM8
<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: November 1, 1995
Last sequence update: November 25, 2008
Last modified: December 2, 2020
This is version 199 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

3D-structure, Reference proteome

Documents

  1. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  4. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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