Q9BWX5 · GATA5_HUMAN
- ProteinTranscription factor GATA-5
- GeneGATA5
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids397 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
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).
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).
GO annotations
all annotations | all molecular function | virus receptor activity | dna binding | rna binding | cytoskeletal motor activity | catalytic activity | gtpase activity | structural molecule activity | transporter activity | cytoskeletal protein binding | lipid binding | cyclase activity | antioxidant activity | oxidoreductase activity | transferase activity | hydrolase activity | lyase activity | isomerase activity | ligase activity | protein tag activity | cargo receptor activity | histone binding | protein folding chaperone | translation regulator activity | nutrient reservoir activity | receptor ligand activity | molecular transducer activity | molecular adaptor activity | toxin activity | cell adhesion mediator activity | molecular function regulator activity | virus coreceptor activity | catalytic activity, acting on a protein | catalytic activity, acting on dna | catalytic activity, acting on rna | molecular carrier activity | transcription regulator activity | general transcription initiation factor activity | molecular sensor activity | molecular sequestering activity | atp-dependent activity | other molecular function | all biological process | mitotic cell cycle | cytokinesis | cytoplasmic translation | immune system process | muscle system process | circulatory system process | renal system process | respiratory system process | carbohydrate metabolic process | generation of precursor metabolites and energy | dna replication | dna repair | dna recombination | chromatin organization | dna-templated transcription | regulation of dna-templated transcription | trna metabolic process | protein folding | protein glycosylation | amino acid metabolic process | modified amino acid metabolic process | lipid metabolic process | vitamin metabolic process | sulfur compound metabolic process | intracellular protein transport | nucleocytoplasmic transport | autophagy | inflammatory response | mitochondrion organization | cytoskeleton organization | microtubule-based movement | peroxisome organization | lysosome organization | chromosome segregation | cell adhesion | establishment or maintenance of cell polarity | programmed cell death | photosynthesis | mrna metabolic process | snrna metabolic process | vesicle-mediated transport | reproductive process | digestive system process | signaling | cell differentiation | protein catabolic process | extracellular matrix organization | regulatory ncrna-mediated gene silencing | telomere organization | cell junction organization | wound healing | ribosome biogenesis | cilium organization | anatomical structure development | cell motility | nervous system process | endocrine process | protein maturation | transmembrane transport | nucleobase-containing small molecule metabolic process | hepaticobiliary system process | membrane organization | protein-containing complex assembly | cell wall organization or biogenesis | nitrogen cycle metabolic process | protein localization to plasma membrane | defense response to other organism | detoxification | meiotic nuclear division | mitotic nuclear division | mitochondrial gene expression | carbohydrate derivative metabolic process | other biological process | all cellular component | nuclear chromosome | extracellular region | extracellular space | cell wall | nucleus | nuclear envelope | nucleoplasm | chromosome | nucleolus | mitochondrion | lysosome | endosome | vacuole | peroxisome | endoplasmic reticulum | golgi apparatus | lipid droplet | microtubule organizing center | cytosol | ribosome | cytoskeleton | plasma membrane | cilium | plastid | thylakoid | external encapsulating structure | extracellular matrix | cytoplasmic vesicle | organelle | other cellular component | |||
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Keywords
- Molecular function
- Biological process
- Ligand
Enzyme and pathway databases
Names & Taxonomy
Protein names
- Recommended nameTranscription factor GATA-5
- Alternative names
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionQ9BWX5
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
Disease & Variants
Involvement in disease
Congenital heart defects, multiple types, 5 (CHTD5)
- Note
- 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.
- See alsoMIM:617912
Natural variants in CHTD5
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_073310 | 16 | Y>D | in CHTD5; decreased transcriptional activity; dbSNP:rs1555897088 | |
VAR_080605 | 132 | R>G | in CHTD5; uncertain significance | |
VAR_073312 | 138 | Y>F | in CHTD5; decreased transcriptional activity | |
VAR_073313 | 142 | Y>H | in CHTD5; uncertain significance; dbSNP:rs111554140 | |
VAR_067699 | 184 | G>V | in CHTD5; uncertain significance | |
VAR_073070 | 187 | R>G | in CHTD5; decreased transcriptional activity | |
VAR_080606 | 190 | V>A | in CHTD5; uncertain significance; dbSNP:rs782051102 | |
VAR_073071 | 199 | L>V | in CHTD5; decreased transcriptional activity; dbSNP:rs1555896779 | |
VAR_073072 | 200 | W>G | in CHTD5; decreased transcriptional activity; dbSNP:rs1555896778 | |
VAR_073315 | 203 | D>E | in CHTD5; uncertain significance; decreased transcriptional activity; dbSNP:rs41305803 | |
VAR_073073 | 207 | H>R | in CHTD5; decreased transcriptional activity | |
VAR_080607 | 208-397 | missing | in CHTD5; loss of transcriptional activity | |
VAR_073316 | 210 | C>G | in CHTD5; decreased transcriptional activity; dbSNP:rs997414695 | |
VAR_067700 | 218 | K>T | in CHTD5; uncertain significance | |
VAR_080608 | 223 | N>H | in CHTD5; uncertain significance | |
VAR_073317 | 240 | G>D | in CHTD5; decreased transcriptional activity | |
VAR_073318 | 252 | T>P | in CHTD5; decreased transcriptional activity | |
VAR_067701 | 266 | A>P | in CHTD5; uncertain significance | |
VAR_080609 | 274 | H>R | in CHTD5; uncertain significance |
Features
Showing features for natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_073309 | 3 | in dbSNP:rs113068438 | |||
Sequence: Q → R | ||||||
Natural variant | VAR_073310 | 16 | in CHTD5; decreased transcriptional activity; dbSNP:rs1555897088 | |||
Sequence: Y → D | ||||||
Natural variant | VAR_073311 | 19 | in dbSNP:rs200383755 | |||
Sequence: S → W | ||||||
Natural variant | VAR_080604 | 67 | in dbSNP:rs6142775 | |||
Sequence: T → P | ||||||
Natural variant | VAR_080605 | 132 | in CHTD5; uncertain significance | |||
Sequence: R → G | ||||||
Natural variant | VAR_073312 | 138 | in CHTD5; decreased transcriptional activity | |||
Sequence: Y → F | ||||||
Natural variant | VAR_073313 | 142 | in CHTD5; uncertain significance; dbSNP:rs111554140 | |||
Sequence: Y → H | ||||||
Natural variant | VAR_073314 | 166 | in dbSNP:rs141950357 | |||
Sequence: G → S | ||||||
Natural variant | VAR_067699 | 184 | in CHTD5; uncertain significance | |||
Sequence: G → V | ||||||
Natural variant | VAR_073070 | 187 | in CHTD5; decreased transcriptional activity | |||
Sequence: R → G | ||||||
Natural variant | VAR_080606 | 190 | in CHTD5; uncertain significance; dbSNP:rs782051102 | |||
Sequence: V → A | ||||||
Natural variant | VAR_073071 | 199 | in CHTD5; decreased transcriptional activity; dbSNP:rs1555896779 | |||
Sequence: L → V | ||||||
Natural variant | VAR_073072 | 200 | in CHTD5; decreased transcriptional activity; dbSNP:rs1555896778 | |||
Sequence: W → G | ||||||
Natural variant | VAR_073315 | 203 | in CHTD5; uncertain significance; decreased transcriptional activity; dbSNP:rs41305803 | |||
Sequence: D → E | ||||||
Natural variant | VAR_073073 | 207 | in CHTD5; decreased transcriptional activity | |||
Sequence: H → R | ||||||
Natural variant | VAR_080607 | 208-397 | in CHTD5; loss of transcriptional activity | |||
Sequence: Missing | ||||||
Natural variant | VAR_073316 | 210 | in CHTD5; decreased transcriptional activity; dbSNP:rs997414695 | |||
Sequence: C → G | ||||||
Natural variant | VAR_067700 | 218 | in CHTD5; uncertain significance | |||
Sequence: K → T | ||||||
Natural variant | VAR_080608 | 223 | in CHTD5; uncertain significance | |||
Sequence: N → H | ||||||
Natural variant | VAR_073317 | 240 | in CHTD5; decreased transcriptional activity | |||
Sequence: G → D | ||||||
Natural variant | VAR_073318 | 252 | in CHTD5; decreased transcriptional activity | |||
Sequence: T → P | ||||||
Natural variant | VAR_067701 | 266 | in CHTD5; uncertain significance | |||
Sequence: A → P | ||||||
Natural variant | VAR_080609 | 274 | in CHTD5; uncertain significance | |||
Sequence: H → R |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 558 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Genetic variation databases
PTM/Processing
Features
Showing features for chain.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Chain | PRO_0000083418 | 1-397 | Transcription factor GATA-5 | |||
Sequence: MYQSLALAASPRQAAYADSGSFLHAPGAGSPMFVPPARVPSMLSYLSGCEPSPQPPELAARPGWAQTATADSSAFGPGSPHPPAAHPPGATAFPFAHSPSGPGSGGSAGGRDGSAYQGALLPREQFAAPLGRPVGTSYSATYPAYVSPDVAQSWTAGPFDGSVLHGLPGRRPTFVSDFLEEFPGEGRECVNCGALSTPLWRRDGTGHYLCNACGLYHKMNGVNRPLVRPQKRLSSSRRAGLCCTNCHTTNTTLWRRNSEGEPVCNACGLYMKLHGVPRPLAMKKESIQTRKRKPKTIAKARGSSGSTRNASASPSAVASTDSSAATSKAKPSLASPVCPGPSMAPQASGQEDDSLAPGHLEFKFEPEDFAFPSTAPSPQAGLRGALRQEAWCALALA |
Proteomic databases
PTM databases
Interaction
Binary interactions
Type | Entry 1 | Entry 2 | Number of experiments | Intact | |
---|---|---|---|---|---|
BINARY | Q9BWX5 | ARID5A Q03989 | 3 | EBI-12132270, EBI-948603 | |
BINARY | Q9BWX5 | CYSRT1 A8MQ03 | 3 | EBI-12132270, EBI-3867333 | |
BINARY | Q9BWX5 | HPCA P84074 | 3 | EBI-12132270, EBI-12197079 | |
BINARY | Q9BWX5 | HPCAL1 P37235 | 3 | EBI-12132270, EBI-749311 | |
BINARY | Q9BWX5 | MAGED1 Q9Y5V3 | 3 | EBI-12132270, EBI-716006 | |
BINARY | Q9BWX5 | PLA2G10 O15496 | 3 | EBI-12132270, EBI-726466 | |
BINARY | Q9BWX5 | PPARG P37231 | 3 | EBI-12132270, EBI-781384 |
Protein-protein interaction databases
Miscellaneous
Structure
Family & Domains
Features
Showing features for region, zinc finger, compositional bias.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Region | 48-116 | Disordered | ||||
Sequence: GCEPSPQPPELAARPGWAQTATADSSAFGPGSPHPPAAHPPGATAFPFAHSPSGPGSGGSAGGRDGSAY | ||||||
Zinc finger | 189-213 | GATA-type 1 | ||||
Sequence: CVNCGALSTPLWRRDGTGHYLCNAC | ||||||
Zinc finger | 243-267 | GATA-type 2 | ||||
Sequence: CTNCHTTNTTLWRRNSEGEPVCNAC | ||||||
Region | 281-356 | Disordered | ||||
Sequence: AMKKESIQTRKRKPKTIAKARGSSGSTRNASASPSAVASTDSSAATSKAKPSLASPVCPGPSMAPQASGQEDDSLA | ||||||
Compositional bias | 300-330 | Polar residues | ||||
Sequence: ARGSSGSTRNASASPSAVASTDSSAATSKAK |
Keywords
- Domain
Phylogenomic databases
Family and domain databases
Sequence
- Sequence statusComplete
- Length397
- Mass (Da)41,299
- Last updated2001-06-01 v1
- Checksum5DFBA02085695C57
Sequence caution
Features
Showing features for sequence conflict, compositional bias.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Sequence conflict | 92 | in Ref. 4; AAH47790 | ||||
Sequence: A → T | ||||||
Compositional bias | 300-330 | Polar residues | ||||
Sequence: ARGSSGSTRNASASPSAVASTDSSAATSKAK |
Keywords
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
HM015595 EMBL· GenBank· DDBJ | ADL14516.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AL499627 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
CH471077 EMBL· GenBank· DDBJ | EAW75360.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
CH471077 EMBL· GenBank· DDBJ | EAW75361.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
BC047790 EMBL· GenBank· DDBJ | AAH47790.1 EMBL· GenBank· DDBJ | mRNA | Different initiation | |
BC117356 EMBL· GenBank· DDBJ | AAI17357.1 EMBL· GenBank· DDBJ | mRNA | ||
BC117358 EMBL· GenBank· DDBJ | AAI17359.1 EMBL· GenBank· DDBJ | mRNA |