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UniProtKB - Q92908 (GATA6_HUMAN)

Entry version 169 (13 Feb 2019)
Sequence version 2 (25 Nov 2008)
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Protein

Transcription factor GATA-6

Gene

GATA6

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 (PubMed:19666519, PubMed:27756709, PubMed:22750565, PubMed:22824924). Regulates SEMA3C and PLXNA2 (PubMed:19666519). Involved in gene regulation specifically in the gastric epithelium (PubMed:9315713). May regulate genes that protect epithelial cells from bacterial infection (PubMed:16968778). Involved in bone morphogenetic protein (BMP)-mediated cardiac-specific gene expression (By similarity). Binds to BMP response element (BMPRE) DNA sequences within cardiac activating regions (By similarity).By similarity6 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 fingeri390 – 414GATA-type 1PROSITE-ProRule annotationAdd BLAST25
Zinc fingeri444 – 468GATA-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

View the complete GO annotation on QuickGO ...

GO - Biological processi

View the 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

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-5683826 Surfactant metabolism
R-HSA-983231 Factors involved in megakaryocyte development and platelet production

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

More...SignaLinki		Q92908

SIGNOR Signaling Network Open Resource

More...SIGNORi		Q92908

<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:
Transcription factor GATA-6
Alternative name(s):
GATA-binding factor 6
<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:GATA6
<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 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_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 18

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000141448.8

Human Gene Nomenclature Database

More...HGNCi		HGNC:4174 GATA6

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		601656 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q92908

<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

Rare variants in GATA6 may be a cause of susceptibility to atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure.3 Publications
Conotruncal heart malformations (CTHM)1 Publication
The disease is caused by mutations affecting the gene represented in this entry. GATA6 mutations have been found in patients with non-syndromic persistent truncus arteriosus (PubMed:19666519).1 Publication
Disease descriptionA group of congenital heart defects involving the outflow tracts. Examples include truncus arteriosus communis, double-outlet right ventricle and transposition of great arteries. Truncus arteriosus communis is characterized by a single outflow tract instead of a separate aorta and pulmonary artery. In transposition of the great arteries, the aorta arises from the right ventricle and the pulmonary artery from the left ventricle. In double outlet of the right ventricle, both the pulmonary artery and aorta arise from the right ventricle.
See also OMIM:217095
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_067388466N → H in CTHM; persistent truncus arteriosus; loss of transcriptional activity. 1 PublicationCorresponds to variant dbSNP:rs387906813EnsemblClinVar.1
Atrial septal defect 9 (ASD9)1 Publication
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. Some patients manifest tricuspid valve disease, pulmonary valve disease, and pulmonary artery hypertension.
See also OMIM:614475
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_067382184S → N in ASD9 and TOF; loss of transcriptional activity. 1 PublicationCorresponds to variant dbSNP:rs387906816EnsemblClinVar.1
Tetralogy of Fallot (TOF)2 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.
See also OMIM:187500
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_067382184S → N in ASD9 and TOF; loss of transcriptional activity. 1 PublicationCorresponds to variant dbSNP:rs387906816EnsemblClinVar.1
Natural variantiVAR_067383198L → V in TOF; uncertain pathological significance; does not affect transcriptional activity. 1 PublicationCorresponds to variant dbSNP:rs387906814EnsemblClinVar.1
Atrioventricular septal defect 5 (AVSD5)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.
See also OMIM:614474
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_067381178A → V in AVSD5; increased transcriptional activity. 1 PublicationCorresponds to variant dbSNP:rs387906815EnsemblClinVar.1
Pancreatic agenesis and congenital heart defects (PACHD)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant disease characterized by pancreatic severe hypoplasia or agenesis, diabetes mellitus, and congenital heart abnormalities including ventricular septal defect, patent ductus arteriosus, pulmonary artery stenosis, truncus arteriosus and tetralogy of Fallot.
See also OMIM:600001
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_067384452T → A in PACHD. 1 PublicationCorresponds to variant dbSNP:rs387906817EnsemblClinVar.1
Natural variantiVAR_067385456R → C in PACHD; loss of transcriptional activity. 1 PublicationCorresponds to variant dbSNP:rs387906818EnsemblClinVar.1
Natural variantiVAR_067386456R → H in PACHD. 1 PublicationCorresponds to variant dbSNP:rs387906819EnsemblClinVar.1
Natural variantiVAR_067387466N → D in PACHD; loss of transcriptional activity. 1 PublicationCorresponds to variant dbSNP:rs387906813EnsemblClinVar.1
Natural variantiVAR_067389467A → T in PACHD; loss of transcriptional activity. 1 PublicationCorresponds to variant dbSNP:rs387906820EnsemblClinVar.1
Natural variantiVAR_067390473K → Q in PACHD; loss of transcriptional activity. 1 Publication1

Keywords - Diseasei

Atrial septal defect, Disease mutation

Organism-specific databases

DisGeNET

More...DisGeNETi		2627

MalaCards human disease database

More...MalaCardsi		GATA6
MIMi187500 phenotype
217095 phenotype
600001 phenotype
614474 phenotype
614475 phenotype

Open Targets

More...OpenTargetsi		ENSG00000141448

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

More...Orphaneti		99103 Atrial septal defect, ostium secundum type
99067 Complete atrioventricular canal-ventricle hypoplasia syndrome
2140 Congenital diaphragmatic hernia
334 Familial atrial fibrillation
2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
1330 Partial atrioventricular canal
3303 Tetralogy of Fallot

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA28589

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		GATA6

Domain mapping of disease mutations (DMDM)

More...DMDMi		215273987

<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_00000834231 – 595Transcription factor GATA-6Add BLAST595

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 residuei268PhosphoserineCombined 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-linki429Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki473Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki484Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources

Keywords - PTMi

Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q92908

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q92908

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q92908

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

More...PaxDbi		Q92908

PeptideAtlas

More...PeptideAtlasi		Q92908

PRoteomics IDEntifications database

More...PRIDEi		Q92908

ProteomicsDB human proteome resource

More...ProteomicsDBi		75592
75593 [Q92908-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q92908

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

More...PhosphoSitePlusi		Q92908

<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

Expressed in heart, gut and gut-derived tissues.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000141448 Expressed in 158 organ(s), highest expression level in germinal epithelium of ovary

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q92908 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		CAB011581
HPA066629

<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

Interacts with LMCD1.By similarity

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		108897, 9 interactors

Protein interaction database and analysis system

More...IntActi		Q92908, 4 interactors

Molecular INTeraction database

More...MINTi		Q92908

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000269216

<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		Q92908

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

More...SMRi		Q92908

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

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 biasi173 – 183Poly-AlaAdd BLAST11
Compositional biasi324 – 333Poly-His10
Compositional biasi449 – 453Poly-Thr5

<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 GATA-type zinc fingers mediate interaction with LMCD1.By similarity

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri390 – 414GATA-type 1PROSITE-ProRule annotationAdd BLAST25
Zinc fingeri444 – 468GATA-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		ENSGT00940000160814

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000047700

The HOVERGEN Database of Homologous Vertebrate Genes

More...HOVERGENi		HBG051703

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q92908

KEGG Orthology (KO)

More...KOi		K17897

Identification of Orthologs from Complete Genome Data

More...OMAi		GAHPGWP

Database of Orthologous Groups

More...OrthoDBi		807790at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q92908

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_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 (2)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 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 initiation. AlignAdd to basket
Isoform 1 (identifier: Q92908-1) [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
MALTDGGWCL PKRFGAAGAD ASDSRAFPAR EPSTPPSPIS SSSSSCSRGG 
        60         70         80         90        100
ERGPGGASNC GTPQLDTEAA AGPPARSLLL SSYASHPFGA PHGPSAPGVA 
       110        120        130        140        150
GPGGNLSSWE DLLLFTDLDQ AATASKLLWS SRGAKLSPFA PEQPEEMYQT 
       160        170        180        190        200
LAALSSQGPA AYDGAPGGFV HSAAAAAAAA AAASSPVYVP TTRVGSMLPG 
       210        220        230        240        250
LPYHLQGSGS GPANHAGGAG AHPGWPQASA DSPPYGSGGG AAGGGAAGPG 
       260        270        280        290        300
GAGSAAAHVS ARFPYSPSPP MANGAAREPG GYAAAGSGGA GGVSGGGSSL 
       310        320        330        340        350
AAMGGREPQY SSLSAARPLN GTYHHHHHHH HHHPSPYSPY VGAPLTPAWP 
       360        370        380        390        400
AGPFETPVLH SLQSRAGAPL PVPRGPSADL LEDLSESREC VNCGSIQTPL 
       410        420        430        440        450
WRRDGTGHYL CNACGLYSKM NGLSRPLIKP QKRVPSSRRL GLSCANCHTT 
       460        470        480        490        500
TTTLWRRNAE GEPVCNACGL YMKLHGVPRP LAMKKEGIQT RKRKPKNINK 
       510        520        530        540        550
SKTCSGNSNN SIPMTPTSTS SNSDDCSKNT SPTTQPTASG AGAPVMTGAG 
       560        570        580        590 
ESTNPENSEL KYSGQDGLYI GVSLASPAEV TSSVRPDSWC ALALA
Length:595
Mass (Da):60,033
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:iC4D5410916543E0B
GO
Isoform 2 (identifier: Q92908-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-146: Missing.

Note: Produced by alternative initiation at Met-147 of isoform 1.
Show »
Length:449
Mass (Da):45,386
Checksum:i2A0C294757CC2E92
GO

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 conflicti281G → V in CAA64997 (PubMed:9294001).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06738015G → R4 PublicationsCorresponds to variant dbSNP:rs116262672EnsemblClinVar.1
Natural variantiVAR_07842791P → S Probable disease-associated mutation found in patients with atrial fibrillation; gain of function; no effect on subcellular localization. 1 PublicationCorresponds to variant dbSNP:rs766886560EnsemblClinVar.1
Natural variantiVAR_078428177A → T Probable disease-associated mutation found in patients with atrial fibrillation; gain of function; no effect on subcellular localization. 1 PublicationCorresponds to variant dbSNP:rs1263887431Ensembl.1
Natural variantiVAR_067381178A → V in AVSD5; increased transcriptional activity. 1 PublicationCorresponds to variant dbSNP:rs387906815EnsemblClinVar.1
Natural variantiVAR_067382184S → N in ASD9 and TOF; loss of transcriptional activity. 1 PublicationCorresponds to variant dbSNP:rs387906816EnsemblClinVar.1
Natural variantiVAR_067383198L → V in TOF; uncertain pathological significance; does not affect transcriptional activity. 1 PublicationCorresponds to variant dbSNP:rs387906814EnsemblClinVar.1
Natural variantiVAR_078429235Y → S Probable disease-associated mutation found in patients with atrial fibrillation; significant loss of transcriptional activator activity. 1 Publication1
Natural variantiVAR_067384452T → A in PACHD. 1 PublicationCorresponds to variant dbSNP:rs387906817EnsemblClinVar.1
Natural variantiVAR_067385456R → C in PACHD; loss of transcriptional activity. 1 PublicationCorresponds to variant dbSNP:rs387906818EnsemblClinVar.1
Natural variantiVAR_067386456R → H in PACHD. 1 PublicationCorresponds to variant dbSNP:rs387906819EnsemblClinVar.1
Natural variantiVAR_067387466N → D in PACHD; loss of transcriptional activity. 1 PublicationCorresponds to variant dbSNP:rs387906813EnsemblClinVar.1
Natural variantiVAR_067388466N → H in CTHM; persistent truncus arteriosus; loss of transcriptional activity. 1 PublicationCorresponds to variant dbSNP:rs387906813EnsemblClinVar.1
Natural variantiVAR_067389467A → T in PACHD; loss of transcriptional activity. 1 PublicationCorresponds to variant dbSNP:rs387906820EnsemblClinVar.1
Natural variantiVAR_078430469G → V Probable disease-associated mutation found in patients with atrial fibrillation; significant loss of transcriptional activator activity. 1 Publication1
Natural variantiVAR_067390473K → Q in PACHD; loss of transcriptional activity. 1 Publication1
Natural variantiVAR_078431543A → G Probable disease-associated mutation found in patients with atrial fibrillation; gain of function; no effect on subcellular localization. 1 PublicationCorresponds to variant dbSNP:rs761668180Ensembl.1
Natural variantiVAR_078432585R → L Probable disease-associated mutation found in patients with atrial fibrillation; gain of function; no effect on subcellular localization. 1 PublicationCorresponds to variant dbSNP:rs201707559Ensembl.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_0357781 – 146Missing in isoform 2. 3 PublicationsAdd BLAST146

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
U66075 mRNA Translation: AAC50941.1
X95701 mRNA Translation: CAA64997.1
D87811 mRNA Translation: BAA22621.1
EF444980 Genomic DNA Translation: ACA05995.1
AC091588 Genomic DNA No translation available.
CH471088 Genomic DNA Translation: EAX01137.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS11872.1 [Q92908-1]

NCBI Reference Sequences

More...RefSeqi		NP_005248.2, NM_005257.5 [Q92908-1]

UniGene gene-oriented nucleotide sequence clusters

More...UniGenei		Hs.514746
Hs.741506

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000269216; ENSP00000269216; ENSG00000141448 [Q92908-1]
ENST00000581694; ENSP00000462313; ENSG00000141448 [Q92908-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		2627

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:2627

UCSC genome browser

More...UCSCi		uc002ktt.2 human [Q92908-1]

Keywords - Coding sequence diversityi

Alternative initiation, Polymorphism

<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
U66075 mRNA Translation: AAC50941.1
X95701 mRNA Translation: CAA64997.1
D87811 mRNA Translation: BAA22621.1
EF444980 Genomic DNA Translation: ACA05995.1
AC091588 Genomic DNA No translation available.
CH471088 Genomic DNA Translation: EAX01137.1
CCDSiCCDS11872.1 [Q92908-1]
RefSeqiNP_005248.2, NM_005257.5 [Q92908-1]
UniGeneiHs.514746
Hs.741506

3D structure databases

ProteinModelPortaliQ92908
SMRiQ92908
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108897, 9 interactors
IntActiQ92908, 4 interactors
MINTiQ92908
STRINGi9606.ENSP00000269216

PTM databases

iPTMnetiQ92908
PhosphoSitePlusiQ92908

Polymorphism and mutation databases

BioMutaiGATA6
DMDMi215273987

Proteomic databases

EPDiQ92908
jPOSTiQ92908
MaxQBiQ92908
PaxDbiQ92908
PeptideAtlasiQ92908
PRIDEiQ92908
ProteomicsDBi75592
75593 [Q92908-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000269216; ENSP00000269216; ENSG00000141448 [Q92908-1]
ENST00000581694; ENSP00000462313; ENSG00000141448 [Q92908-1]
GeneIDi2627
KEGGihsa:2627
UCSCiuc002ktt.2 human [Q92908-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		2627
DisGeNETi2627
EuPathDBiHostDB:ENSG00000141448.8

GeneCards: human genes, protein and diseases

More...GeneCardsi		GATA6

H-Invitational Database, human transcriptome db

More...H-InvDBi		HIX0039732
HGNCiHGNC:4174 GATA6
HPAiCAB011581
HPA066629
MalaCardsiGATA6
MIMi187500 phenotype
217095 phenotype
600001 phenotype
601656 gene
614474 phenotype
614475 phenotype
neXtProtiNX_Q92908
OpenTargetsiENSG00000141448
Orphaneti99103 Atrial septal defect, ostium secundum type
99067 Complete atrioventricular canal-ventricle hypoplasia syndrome
2140 Congenital diaphragmatic hernia
334 Familial atrial fibrillation
2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
1330 Partial atrioventricular canal
3303 Tetralogy of Fallot
PharmGKBiPA28589

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG1601 Eukaryota
COG5641 LUCA
GeneTreeiENSGT00940000160814
HOGENOMiHOG000047700
HOVERGENiHBG051703
InParanoidiQ92908
KOiK17897
OMAiGAHPGWP
OrthoDBi807790at2759
PhylomeDBiQ92908
TreeFamiTF315391

Enzyme and pathway databases

ReactomeiR-HSA-5683826 Surfactant metabolism
R-HSA-983231 Factors involved in megakaryocyte development and platelet production
SignaLinkiQ92908
SIGNORiQ92908

Miscellaneous databases

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

More...ChiTaRSi		GATA6 human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		GATA6

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

More...GenomeRNAii		2627

Protein Ontology

More...PROi		PR:Q92908

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000141448 Expressed in 158 organ(s), highest expression level in germinal epithelium of ovary
GenevisibleiQ92908 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...

<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 nameiGATA6_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: Q92908
Secondary accession number(s): B0YJ17, P78327
<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: November 1, 1997
Last sequence update: November 25, 2008
Last modified: February 13, 2019
This is version 169 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

Complete proteome, 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. Human chromosome 18
    Human chromosome 18: entries, gene names and cross-references to MIM
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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