Skip Header

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

UniProtKB - Q9BWX5 (GATA5_HUMAN)

Entry version 167 (02 Jun 2021)
Sequence version 1 (01 Jun 2001)
Previous versions | rss
Add a publicationFeedback
Protein

Transcription factor GATA-5

Gene

GATA5

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

Transcription factor required during cardiovascular development (PubMed:23289003).

Plays an important role in the transcriptional program(s) that underlies smooth muscle cell diversity (By similarity).

Binds to the functionally important CEF-1 nuclear protein binding site in the cardiac-specific slow/cardiac troponin C transcriptional enhancer (PubMed:25543888).

By similarity2 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 fingeri189 – 213GATA-type 1PROSITE-ProRule annotationAdd BLAST25
Zinc fingeri243 – 267GATA-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		Q9BWX5

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-983231, Factors involved in megakaryocyte development and platelet production

SIGNOR Signaling Network Open Resource

More...SIGNORi		Q9BWX5

<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-5
Alternative name(s):
GATA-binding factor 5
<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:GATA5Imported
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 20

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:15802, GATA5

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		611496, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9BWX5

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000130700.6

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

Keywords - Cellular componenti

Nucleus

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

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

Congenital heart defects, multiple types, 5 (CHTD5)10 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA disorder characterized by congenital developmental abnormalities involving structures of the heart. Common defects include transposition of the great arteries, aortic stenosis, atrial septal defect, ventricular septal defect, pulmonic stenosis, patent ductus arteriosus, and tetralogy of Fallot. Some patients also have cardiac arrhythmias, which may be due to the anatomic defect itself or to surgical interventions. CHTD5 inheritance can be autosomal dominant or recessive.
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_07331016Y → D in CHTD5; decreased transcriptional activity. 1 PublicationCorresponds to variant dbSNP:rs1555897088EnsemblClinVar.1
Natural variantiVAR_080605132R → G in CHTD5; unknown pathological significance. 1 Publication1
Natural variantiVAR_073312138Y → F in CHTD5; decreased transcriptional activity. 1 Publication1
Natural variantiVAR_073313142Y → H in CHTD5; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs111554140EnsemblClinVar.1
Natural variantiVAR_067699184G → V in CHTD5; unknown pathological significance. 1 Publication1
Natural variantiVAR_073070187R → G in CHTD5; decreased transcriptional activity. 1 Publication1
Natural variantiVAR_080606190V → A in CHTD5; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs782051102EnsemblClinVar.1
Natural variantiVAR_073071199L → V in CHTD5; decreased transcriptional activity. 1 PublicationCorresponds to variant dbSNP:rs1555896779EnsemblClinVar.1
Natural variantiVAR_073072200W → G in CHTD5; decreased transcriptional activity. 1 PublicationCorresponds to variant dbSNP:rs1555896778EnsemblClinVar.1
Natural variantiVAR_073315203D → E in CHTD5; unknown pathological significance; decreased transcriptional activity. 1 PublicationCorresponds to variant dbSNP:rs41305803Ensembl.1
Natural variantiVAR_073073207H → R in CHTD5; decreased transcriptional activity. 1 Publication1
Natural variantiVAR_080607208 – 397Missing in CHTD5; loss of transcriptional activity. 1 PublicationAdd BLAST190
Natural variantiVAR_073316210C → G in CHTD5; decreased transcriptional activity. 1 PublicationCorresponds to variant dbSNP:rs997414695Ensembl.1
Natural variantiVAR_067700218K → T in CHTD5; unknown pathological significance. 1 Publication1
Natural variantiVAR_080608223N → H in CHTD5; unknown pathological significance. 1 Publication1
Natural variantiVAR_073317240G → D in CHTD5; decreased transcriptional activity. 1 Publication1
Natural variantiVAR_073318252T → P in CHTD5; decreased transcriptional activity. 1 Publication1
Natural variantiVAR_067701266A → P in CHTD5; unknown pathological significance. 1 Publication1
Natural variantiVAR_080609274H → R in CHTD5; unknown pathological significance. 1 Publication1

Keywords - Diseasei

Disease variant

Organism-specific databases

DisGeNET

More...DisGeNETi		140628

MalaCards human disease database

More...MalaCardsi		GATA5
MIMi617912, phenotype

Open Targets

More...OpenTargetsi		ENSG00000130700

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

More...Orphaneti		334, Familial atrial fibrillation
402075, Familial bicuspid aortic valve
1480, NON RARE IN EUROPE: Ventricular septal defect
3303, Tetralogy of Fallot

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA28588

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q9BWX5, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		GATA5

Domain mapping of disease mutations (DMDM)

More...DMDMi		20138325

<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_00000834181 – 397Transcription factor GATA-5Add BLAST397

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q9BWX5

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q9BWX5

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q9BWX5

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

More...PaxDbi		Q9BWX5

PeptideAtlas

More...PeptideAtlasi		Q9BWX5

PRoteomics IDEntifications database

More...PRIDEi		Q9BWX5

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		79338

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9BWX5

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

More...PhosphoSitePlusi		Q9BWX5

<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		ENSG00000130700, Expressed in urinary bladder and 88 other tissues

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9BWX5, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000130700, Tissue enhanced (gallbladder, intestine)

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

Hide details

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		126640, 9 interactors

Protein interaction database and analysis system

More...IntActi		Q9BWX5, 7 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000252997

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q9BWX5, protein

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

3D structure databases

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

More...SMRi		Q9BWX5

Database of comparative protein structure models

More...ModBasei		Search...

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

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni48 – 116DisorderedSequence analysisAdd BLAST69
Regioni281 – 356DisorderedSequence analysisAdd BLAST76

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 type of amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi300 – 330Polar residuesSequence analysisAdd BLAST31

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri189 – 213GATA-type 1PROSITE-ProRule annotationAdd BLAST25
Zinc fingeri243 – 267GATA-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		ENSGT00940000160139

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_027524_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9BWX5

Identification of Orthologs from Complete Genome Data

More...OMAi		PSWTAGH

Database of Orthologous Groups

More...OrthoDBi		807790at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9BWX5

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>Sequencei

<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.

Q9BWX5-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MYQSLALAAS PRQAAYADSG SFLHAPGAGS PMFVPPARVP SMLSYLSGCE 
        60         70         80         90        100
PSPQPPELAA RPGWAQTATA DSSAFGPGSP HPPAAHPPGA TAFPFAHSPS 
       110        120        130        140        150
GPGSGGSAGG RDGSAYQGAL LPREQFAAPL GRPVGTSYSA TYPAYVSPDV 
       160        170        180        190        200
AQSWTAGPFD GSVLHGLPGR RPTFVSDFLE EFPGEGRECV NCGALSTPLW 
       210        220        230        240        250
RRDGTGHYLC NACGLYHKMN GVNRPLVRPQ KRLSSSRRAG LCCTNCHTTN 
       260        270        280        290        300
TTLWRRNSEG EPVCNACGLY MKLHGVPRPL AMKKESIQTR KRKPKTIAKA 
       310        320        330        340        350
RGSSGSTRNA SASPSAVAST DSSAATSKAK PSLASPVCPG PSMAPQASGQ 
       360        370        380        390 
EDDSLAPGHL EFKFEPEDFA FPSTAPSPQA GLRGALRQEA WCALALA
Length:397
Mass (Da):41,299
Last modified:June 1, 2001 - 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:i5DFBA02085695C57
GO

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAH47790 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated

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 conflicti92A → T in AAH47790 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0733093Q → R1 PublicationCorresponds to variant dbSNP:rs113068438EnsemblClinVar.1
Natural variantiVAR_07331016Y → D in CHTD5; decreased transcriptional activity. 1 PublicationCorresponds to variant dbSNP:rs1555897088EnsemblClinVar.1
Natural variantiVAR_07331119S → W1 PublicationCorresponds to variant dbSNP:rs200383755EnsemblClinVar.1
Natural variantiVAR_08060467T → P1 PublicationCorresponds to variant dbSNP:rs6142775Ensembl.1
Natural variantiVAR_080605132R → G in CHTD5; unknown pathological significance. 1 Publication1
Natural variantiVAR_073312138Y → F in CHTD5; decreased transcriptional activity. 1 Publication1
Natural variantiVAR_073313142Y → H in CHTD5; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs111554140EnsemblClinVar.1
Natural variantiVAR_073314166G → S1 PublicationCorresponds to variant dbSNP:rs141950357Ensembl.1
Natural variantiVAR_067699184G → V in CHTD5; unknown pathological significance. 1 Publication1
Natural variantiVAR_073070187R → G in CHTD5; decreased transcriptional activity. 1 Publication1
Natural variantiVAR_080606190V → A in CHTD5; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs782051102EnsemblClinVar.1
Natural variantiVAR_073071199L → V in CHTD5; decreased transcriptional activity. 1 PublicationCorresponds to variant dbSNP:rs1555896779EnsemblClinVar.1
Natural variantiVAR_073072200W → G in CHTD5; decreased transcriptional activity. 1 PublicationCorresponds to variant dbSNP:rs1555896778EnsemblClinVar.1
Natural variantiVAR_073315203D → E in CHTD5; unknown pathological significance; decreased transcriptional activity. 1 PublicationCorresponds to variant dbSNP:rs41305803Ensembl.1
Natural variantiVAR_073073207H → R in CHTD5; decreased transcriptional activity. 1 Publication1
Natural variantiVAR_080607208 – 397Missing in CHTD5; loss of transcriptional activity. 1 PublicationAdd BLAST190
Natural variantiVAR_073316210C → G in CHTD5; decreased transcriptional activity. 1 PublicationCorresponds to variant dbSNP:rs997414695Ensembl.1
Natural variantiVAR_067700218K → T in CHTD5; unknown pathological significance. 1 Publication1
Natural variantiVAR_080608223N → H in CHTD5; unknown pathological significance. 1 Publication1
Natural variantiVAR_073317240G → D in CHTD5; decreased transcriptional activity. 1 Publication1
Natural variantiVAR_073318252T → P in CHTD5; decreased transcriptional activity. 1 Publication1
Natural variantiVAR_067701266A → P in CHTD5; unknown pathological significance. 1 Publication1
Natural variantiVAR_080609274H → R in CHTD5; unknown pathological significance. 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
HM015595 Genomic DNA Translation: ADL14516.1
AL499627 Genomic DNA No translation available.
CH471077 Genomic DNA Translation: EAW75360.1
CH471077 Genomic DNA Translation: EAW75361.1
BC047790 mRNA Translation: AAH47790.1 Different initiation.
BC117356 mRNA Translation: AAI17357.1
BC117358 mRNA Translation: AAI17359.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS13499.1

NCBI Reference Sequences

More...RefSeqi		NP_536721.1, NM_080473.4
XP_006723762.1, XM_006723699.3

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000252997; ENSP00000252997; ENSG00000130700

Database of genes from NCBI RefSeq genomes

More...GeneIDi		140628

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:140628

UCSC genome browser

More...UCSCi		uc002ycx.1, human

<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
HM015595 Genomic DNA Translation: ADL14516.1
AL499627 Genomic DNA No translation available.
CH471077 Genomic DNA Translation: EAW75360.1
CH471077 Genomic DNA Translation: EAW75361.1
BC047790 mRNA Translation: AAH47790.1 Different initiation.
BC117356 mRNA Translation: AAI17357.1
BC117358 mRNA Translation: AAI17359.1
CCDSiCCDS13499.1
RefSeqiNP_536721.1, NM_080473.4
XP_006723762.1, XM_006723699.3

3D structure databases

SMRiQ9BWX5
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi126640, 9 interactors
IntActiQ9BWX5, 7 interactors
STRINGi9606.ENSP00000252997

PTM databases

iPTMnetiQ9BWX5
PhosphoSitePlusiQ9BWX5

Genetic variation databases

BioMutaiGATA5
DMDMi20138325

Proteomic databases

jPOSTiQ9BWX5
MassIVEiQ9BWX5
MaxQBiQ9BWX5
PaxDbiQ9BWX5
PeptideAtlasiQ9BWX5
PRIDEiQ9BWX5
ProteomicsDBi79338

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		29533, 261 antibodies

The DNASU plasmid repository

More...DNASUi		140628

Genome annotation databases

EnsembliENST00000252997; ENSP00000252997; ENSG00000130700
GeneIDi140628
KEGGihsa:140628
UCSCiuc002ycx.1, human

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		140628
DisGeNETi140628

GeneCards: human genes, protein and diseases

More...GeneCardsi		GATA5
HGNCiHGNC:15802, GATA5
HPAiENSG00000130700, Tissue enhanced (gallbladder, intestine)
MalaCardsiGATA5
MIMi611496, gene
617912, phenotype
neXtProtiNX_Q9BWX5
OpenTargetsiENSG00000130700
Orphaneti334, Familial atrial fibrillation
402075, Familial bicuspid aortic valve
1480, NON RARE IN EUROPE: Ventricular septal defect
3303, Tetralogy of Fallot
PharmGKBiPA28588
VEuPathDBiHostDB:ENSG00000130700.6

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG1601, Eukaryota
GeneTreeiENSGT00940000160139
HOGENOMiCLU_027524_0_0_1
InParanoidiQ9BWX5
OMAiPSWTAGH
OrthoDBi807790at2759
PhylomeDBiQ9BWX5
TreeFamiTF315391

Enzyme and pathway databases

PathwayCommonsiQ9BWX5
ReactomeiR-HSA-983231, Factors involved in megakaryocyte development and platelet production
SIGNORiQ9BWX5

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		140628, 6 hits in 1008 CRISPR screens

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		GATA5

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

More...GenomeRNAii		140628
PharosiQ9BWX5, Tbio

Protein Ontology

More...PROi		PR:Q9BWX5
RNActiQ9BWX5, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000130700, Expressed in urinary bladder and 88 other tissues
GenevisibleiQ9BWX5, 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

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 nameiGATA5_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: Q9BWX5
Secondary accession number(s): D9ZGF7, Q17RE2, Q86VU4
<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: January 31, 2002
Last sequence update: June 1, 2001
Last modified: June 2, 2021
This is version 167 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

Reference proteome

Documents

  1. Human chromosome 20
    Human chromosome 20: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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