Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Erythroid transcription factor

Gene

GATA1

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 or repressor which probably serves as a general switch factor for erythroid development. It binds to DNA sites with the consensus sequence 5'-[AT]GATA[AG]-3' within regulatory regions of globin genes and of other genes expressed in erythroid cells. Activates the transcription of genes involved in erythroid differentiation of K562 erythroleukemia cells, including HBB, HBG1/2, ALAS2 and HMBS (PubMed:24245781).2 Publications

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ 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 fingeri204 – 228GATA-type 1PROSITE-ProRule annotationAdd BLAST25
Zinc fingeri258 – 282GATA-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

GO - Biological processi

<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, Repressor
Biological processTranscription, Transcription regulation
LigandMetal-binding, Zinc

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-8936459 RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function
R-HSA-8939236 RUNX1 regulates transcription of genes involved in differentiation of HSCs
R-HSA-983231 Factors involved in megakaryocyte development and platelet production

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

More...
SignaLinki
P15976

SIGNOR Signaling Network Open Resource

More...
SIGNORi
P15976

<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_and_taxonomy_section">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:
Erythroid transcription factor
Alternative name(s):
Eryf1
GATA-binding factor 1
Short name:
GATA-1
Short name:
GF-1
NF-E1 DNA-binding protein
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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:GATA1
Synonyms:ERYF1, GF1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_manual">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 X

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000102145.13

Human Gene Nomenclature Database

More...
HGNCi
HGNC:4170 GATA1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
305371 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P15976

<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; 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

X-linked dyserythropoietic anemia and thrombocytopenia (XDAT)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionDisorder characterized by erythrocytes with abnormal size and shape, and paucity of platelets in peripheral blood. The bone marrow contains abundant and abnormally small megakaryocytes.
See also OMIM:300367
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_010115205V → M in XDAT; severe impairment of ZFPM1 binding and erythroid differentiation in vitro. 1 PublicationCorresponds to variant dbSNP:rs104894815EnsemblClinVar.1
Natural variantiVAR_012706208G → S in XDAT; partially disrupts the interaction with ZFPM1. 1 PublicationCorresponds to variant dbSNP:rs137852312EnsemblClinVar.1
Natural variantiVAR_012707218D → G in XDAT; partially disrupts the interaction with ZFPM1. 1 PublicationCorresponds to variant dbSNP:rs104894816EnsemblClinVar.1
Natural variantiVAR_033115218D → Y in XDAT; stronger loss of affinity than of G-218-GATA1 for ZFPM1 and disturbed GATA1 self-association. 1 PublicationCorresponds to variant dbSNP:rs104894808EnsemblClinVar.1
Thrombocytopenia with beta-thalassemia, X-linked (XLTT)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn unusual form of thrombocytopenia associated with beta-thalassemia. Patients have splenomegaly and petechiae, moderate thrombocytopenia, prolonged bleeding time due to platelet dysfunction, reticulocytosis and unbalanced (hemo)globin chain synthesis resembling that of beta-thalassemia minor.
See also OMIM:314050
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_033114216R → Q in XLTT; does not affect ZFPM1 binding; reduced affinity to palindromic GATA sites; supports erythroid maturation less efficiently than wild-type GATA1. 1 PublicationCorresponds to variant dbSNP:rs104894809EnsemblClinVar.1
Anemia without thrombocytopenia, X-linked (XLAWT)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of anemia characterized by abnormal morphology of erythrocytes and granulocytes in peripheral blood, bone marrow dysplasia with hypocellularity of erythroid and granulocytic lineages, and normal or increased number of megakaryocytes. Neutropenia of a variable degree is present in affected individuals.
See also OMIM:300835

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi137K → R: Abolishes sumoylation. 1 Publication1
Mutagenesisi142S → A: Loss of sumoylation. 1 Publication1
Mutagenesisi142S → D: Increased sumoylation in vitro. 1 Publication1
Mutagenesisi204C → R: Increase of dissociation rate from bound DNA. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
2623

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

More...
GeneReviewsi
GATA1

MalaCards human disease database

More...
MalaCardsi
GATA1
MIMi300367 phenotype
300835 phenotype
314050 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000102145

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

More...
Orphaneti
86849 Acute basophilic leukemia
99887 Acute megakaryoblastic leukemia in Down syndrome
231393 Beta-thalassemia-X-linked thrombocytopenia syndrome
124 Blackfan-Diamond anemia
79277 Congenital erythropoietic porphyria
67044 Thrombocytopenia with congenital dyserythropoietic anemia
420611 Transient myeloproliferative syndrome
363727 X-linked dyserythropoetic anemia with abnormal platelets and neutropenia

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA28584

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
GATA1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
120956

<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.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000833971 – 413Erythroid transcription factorAdd BLAST413

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 residuei26PhosphoserineBy similarity1
Modified residuei72PhosphoserineBy similarity1
Modified residuei116PhosphoserineCombined sources1
Modified residuei131PhosphoserineCombined sources1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki137Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)1 Publication
Modified residuei142Phosphoserine1 Publication1
Modified residuei178PhosphoserineBy similarity1
Modified residuei187PhosphoserineBy similarity1
Modified residuei233N6-acetyllysine; by EP3001 Publication1
Modified residuei245N6-acetyllysine; by EP3001 Publication1
Modified residuei246N6-acetyllysine; by CREBBPBy similarity1
Modified residuei246N6-acetyllysine; by EP3001 Publication1
Modified residuei252N6-acetyllysine; by CREBBPBy similarity1
Modified residuei308N6-acetyllysineBy similarity1
Modified residuei310PhosphoserineBy similarity1
Modified residuei312N6-acetyllysine; by CREBBPBy similarity1
Modified residuei314N6-acetyllysineBy similarity1
Modified residuei315N6-acetyllysineBy similarity1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">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

Highly phosphorylated on serine residues. Phosphorylation on Ser-310 is enhanced on erythroid differentiation. Phosphorylation on Ser-142 promotes sumoylation on Lys-137 (By similarity).By similarity
Sumoylation on Lys-137 is enhanced by phosphorylation on Ser-142 and by interaction with PIAS4. Sumoylation with SUMO1 has no effect on transcriptional activity (By similarity).By similarity
Acetylated at 2 conserved lysine-rich motifs by CREBBP in vitro. Acetylation does not affect DNA-binding in vitro but is essential to induce erythroid differentiation and for binding chromatin in vivo (By similarity). Acetylated on Lys-233, Lys-245 Lys-246 by EP300.By similarity1 Publication

Keywords - PTMi

Acetylation, Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

MaxQB - The MaxQuant DataBase

More...
MaxQBi
P15976

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

More...
PaxDbi
P15976

PeptideAtlas

More...
PeptideAtlasi
P15976

PRoteomics IDEntifications database

More...
PRIDEi
P15976

ProteomicsDB human proteome resource

More...
ProteomicsDBi
53260
53261 [P15976-2]
53262 [P15976-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
P15976

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

More...
PhosphoSitePlusi
P15976

Miscellaneous databases

CutDB - Proteolytic event database

More...
PMAP-CutDBi
P15976

<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

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Erythrocytes.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000102145 Expressed in 60 organ(s), highest expression level in liver

CleanEx database of gene expression profiles

More...
CleanExi
HS_GATA1

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
P15976 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
P15976 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
CAB009195
HPA000232
HPA000233

<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_section">'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_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

May form homodimers or heterodimers with other isoforms. Interacts (via the N-terminal zinc finger) with ZFPM1. Interacts with GFI1B. Interacts with PIAS4; the interaction enhances sumoylation and represses the transactivational activity in a sumoylation-independent manner. Interacts with LMCD1. Interacts with BRD3 (By similarity). Interacts with CREBBP; the interaction stimulates acetylation and transcriptional activity in vivo (By similarity). Interacts with EP300. Interacts with MED1, CCAR1 and CALCOCO1. Interacts with CEBPE (PubMed:26019275).By similarity10 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">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="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
108893, 61 interactors

Database of interacting proteins

More...
DIPi
DIP-41431N

Protein interaction database and analysis system

More...
IntActi
P15976, 57 interactors

Molecular INTeraction database

More...
MINTi
P15976

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000365858

<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

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
P15976

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

More...
SMRi
P15976

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
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>Regioni200 – 330Interaction with MED1 and CCAR11 PublicationAdd BLAST131
Regioni203 – 222Required for interaction with ZFPM1Add BLAST20
Regioni249 – 315Interaction with CALCOCO11 PublicationAdd BLAST67

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The two fingers are functionally distinct and cooperate to achieve specific, stable DNA binding. The first finger is necessary only for full specificity and stability of binding, whereas the second one is required for binding (By similarity).By similarity

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri204 – 228GATA-type 1PROSITE-ProRule annotationAdd BLAST25
Zinc fingeri258 – 282GATA-type 2PROSITE-ProRule annotationAdd BLAST25

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG1601 Eukaryota
COG5641 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000161156

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000047701

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG051705

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
P15976

KEGG Orthology (KO)

More...
KOi
K09182

Identification of Orthologs from Complete Genome Data

More...
OMAi
YSKTGLY

Database of Orthologous Groups

More...
OrthoDBi
EOG091G0AUR

Database for complete collections of gene phylogenies

More...
PhylomeDBi
P15976

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
IPR029524 GATA-1
IPR039355 Transcription_factor_GATA
IPR000679 Znf_GATA
IPR013088 Znf_NHR/GATA

The PANTHER Classification System

More...
PANTHERi
PTHR10071 PTHR10071, 1 hit
PTHR10071:SF190 PTHR10071:SF190, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00320 GATA, 2 hits

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_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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 3 <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 and alternative initiation. AlignAdd to basket

This entry has 3 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: P15976-1) [UniParc]FASTAAdd to basket

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

« Hide
        10         20         30         40         50
MEFPGLGSLG TSEPLPQFVD PALVSSTPES GVFFPSGPEG LDAAASSTAP
60 70 80 90 100
STATAAAAAL AYYRDAEAYR HSPVFQVYPL LNCMEGIPGG SPYAGWAYGK
110 120 130 140 150
TGLYPASTVC PTREDSPPQA VEDLDGKGST SFLETLKTER LSPDLLTLGP
160 170 180 190 200
ALPSSLPVPN SAYGGPDFSS TFFSPTGSPL NSAAYSSPKL RGTLPLPPCE
210 220 230 240 250
ARECVNCGAT ATPLWRRDRT GHYLCNACGL YHKMNGQNRP LIRPKKRLIV
260 270 280 290 300
SKRAGTQCTN CQTTTTTLWR RNASGDPVCN ACGLYYKLHQ VNRPLTMRKD
310 320 330 340 350
GIQTRNRKAS GKGKKKRGSS LGGTGAAEGP AGGFMVVAGG SGSGNCGEVA
360 370 380 390 400
SGLTLGPPGT AHLYQGLGPV VLSGPVSHLM PFPGPLLGSP TGSFPTGPMP
410
PTTSTTVVAP LSS
Length:413
Mass (Da):42,751
Last modified:April 1, 1990 - v1
<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:i822BD2DE14B908AD
GO
Isoform 2 (identifier: P15976-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     290-413: QVNRPLTMRK...STTVVAPLSS → HQHYCGGSAQ...KSLGPRHPLA

Note: No experimental confirmation available.
Show »
Length:335
Mass (Da):35,430
Checksum:i9CE44220E09F69D7
GO
Isoform 3 (identifier: P15976-3) [UniParc]FASTAAdd to basket
Also known as: GATA-1s

The sequence of this isoform differs from the canonical sequence as follows:
     1-83: Missing.

Note: Produced by alternative initiation at Met-84 of isoform 1.
Show »
Length:330
Mass (Da):34,232
Checksum:iE5ACD72BCBDB40B1
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 is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
B7WNQ9B7WNQ9_HUMAN
Erythroid transcription factor
GATA1 hCG_19818
334Annotation 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>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_010115205V → M in XDAT; severe impairment of ZFPM1 binding and erythroid differentiation in vitro. 1 PublicationCorresponds to variant dbSNP:rs104894815EnsemblClinVar.1
Natural variantiVAR_012706208G → S in XDAT; partially disrupts the interaction with ZFPM1. 1 PublicationCorresponds to variant dbSNP:rs137852312EnsemblClinVar.1
Natural variantiVAR_033114216R → Q in XLTT; does not affect ZFPM1 binding; reduced affinity to palindromic GATA sites; supports erythroid maturation less efficiently than wild-type GATA1. 1 PublicationCorresponds to variant dbSNP:rs104894809EnsemblClinVar.1
Natural variantiVAR_012707218D → G in XDAT; partially disrupts the interaction with ZFPM1. 1 PublicationCorresponds to variant dbSNP:rs104894816EnsemblClinVar.1
Natural variantiVAR_033115218D → Y in XDAT; stronger loss of affinity than of G-218-GATA1 for ZFPM1 and disturbed GATA1 self-association. 1 PublicationCorresponds to variant dbSNP:rs104894808EnsemblClinVar.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. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0414511 – 83Missing in isoform 3. CuratedAdd BLAST83
Alternative sequenceiVSP_014782290 – 413QVNRP…APLSS → HQHYCGGSAQLMRAQSMASR GGVVSFSSCSQNSGQPKSLG PRHPLA in isoform 2. 1 PublicationAdd BLAST124

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
X17254 mRNA Translation: CAA35120.1
M30601 mRNA Translation: AAA35885.1
AF196971 Genomic DNA No translation available.
BC009797 mRNA Translation: AAH09797.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS14305.1 [P15976-1]

Protein sequence database of the Protein Information Resource

More...
PIRi
A34888

NCBI Reference Sequences

More...
RefSeqi
NP_002040.1, NM_002049.3 [P15976-1]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.765

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000376670; ENSP00000365858; ENSG00000102145 [P15976-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
2623

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:2623

UCSC genome browser

More...
UCSCi
uc004dkq.5 human [P15976-1]

Keywords - Coding sequence diversityi

Alternative initiation, 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_references_section">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
X17254 mRNA Translation: CAA35120.1
M30601 mRNA Translation: AAA35885.1
AF196971 Genomic DNA No translation available.
BC009797 mRNA Translation: AAH09797.1
CCDSiCCDS14305.1 [P15976-1]
PIRiA34888
RefSeqiNP_002040.1, NM_002049.3 [P15976-1]
UniGeneiHs.765

3D structure databases

ProteinModelPortaliP15976
SMRiP15976
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108893, 61 interactors
DIPiDIP-41431N
IntActiP15976, 57 interactors
MINTiP15976
STRINGi9606.ENSP00000365858

PTM databases

iPTMnetiP15976
PhosphoSitePlusiP15976

Polymorphism and mutation databases

BioMutaiGATA1
DMDMi120956

Proteomic databases

MaxQBiP15976
PaxDbiP15976
PeptideAtlasiP15976
PRIDEiP15976
ProteomicsDBi53260
53261 [P15976-2]
53262 [P15976-3]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
2623
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000376670; ENSP00000365858; ENSG00000102145 [P15976-1]
GeneIDi2623
KEGGihsa:2623
UCSCiuc004dkq.5 human [P15976-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
2623
DisGeNETi2623
EuPathDBiHostDB:ENSG00000102145.13

GeneCards: human genes, protein and diseases

More...
GeneCardsi
GATA1
GeneReviewsiGATA1
HGNCiHGNC:4170 GATA1
HPAiCAB009195
HPA000232
HPA000233
MalaCardsiGATA1
MIMi300367 phenotype
300835 phenotype
305371 gene
314050 phenotype
neXtProtiNX_P15976
OpenTargetsiENSG00000102145
Orphaneti86849 Acute basophilic leukemia
99887 Acute megakaryoblastic leukemia in Down syndrome
231393 Beta-thalassemia-X-linked thrombocytopenia syndrome
124 Blackfan-Diamond anemia
79277 Congenital erythropoietic porphyria
67044 Thrombocytopenia with congenital dyserythropoietic anemia
420611 Transient myeloproliferative syndrome
363727 X-linked dyserythropoetic anemia with abnormal platelets and neutropenia
PharmGKBiPA28584

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1601 Eukaryota
COG5641 LUCA
GeneTreeiENSGT00940000161156
HOGENOMiHOG000047701
HOVERGENiHBG051705
InParanoidiP15976
KOiK09182
OMAiYSKTGLY
OrthoDBiEOG091G0AUR
PhylomeDBiP15976
TreeFamiTF315391

Enzyme and pathway databases

ReactomeiR-HSA-8936459 RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function
R-HSA-8939236 RUNX1 regulates transcription of genes involved in differentiation of HSCs
R-HSA-983231 Factors involved in megakaryocyte development and platelet production
SignaLinkiP15976
SIGNORiP15976

Miscellaneous databases

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

More...
ChiTaRSi
GATA1 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
GATA1

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

More...
GenomeRNAii
2623
PMAP-CutDBiP15976

Protein Ontology

More...
PROi
PR:P15976

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000102145 Expressed in 60 organ(s), highest expression level in liver
CleanExiHS_GATA1
ExpressionAtlasiP15976 baseline and differential
GenevisibleiP15976 HS

Family and domain databases

CDDicd00202 ZnF_GATA, 2 hits
Gene3Di3.30.50.10, 2 hits
InterProiView protein in InterPro
IPR029524 GATA-1
IPR039355 Transcription_factor_GATA
IPR000679 Znf_GATA
IPR013088 Znf_NHR/GATA
PANTHERiPTHR10071 PTHR10071, 1 hit
PTHR10071:SF190 PTHR10071:SF190, 1 hit
PfamiView protein in Pfam
PF00320 GATA, 2 hits
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...

<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 nameiGATA1_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: P15976
Secondary accession number(s): Q96GB8
<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_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 1, 1990
Last sequence update: April 1, 1990
Last modified: December 5, 2018
This is version 200 of the entry and version 1 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

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again