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Protein

GATA zinc finger domain-containing protein 1

Gene

GATAD1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Component of some chromatin complex recruited to chromatin sites methylated 'Lys-4' of histone H3 (H3K4me).1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri9 – 33GATA-typePROSITE-ProRule annotationAdd BLAST25

GO - Molecular functioni

GO - Biological processi

  • chromatin assembly Source: UniProtKB

Keywordsi

LigandMetal-binding, Zinc

Names & Taxonomyi

Protein namesi
Recommended name:
GATA zinc finger domain-containing protein 1
Alternative name(s):
Ocular development-associated gene protein
Gene namesi
Name:GATAD1
Synonyms:ODAG
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

EuPathDBiHostDB:ENSG00000157259.6
HGNCiHGNC:29941 GATAD1
MIMi614518 gene
neXtProtiNX_Q8WUU5

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

Pathology & Biotechi

Involvement in diseasei

Cardiomyopathy, dilated 2B (CMD2B)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.
See also OMIM:614672
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_068556102S → P in CMD2B. 1 PublicationCorresponds to variant dbSNP:rs387907188EnsemblClinVar.1

Keywords - Diseasei

Cardiomyopathy, Disease mutation

Organism-specific databases

DisGeNETi57798
MalaCardsiGATAD1
MIMi614672 phenotype
OpenTargetsiENSG00000157259
Orphaneti154 Familial isolated dilated cardiomyopathy
PharmGKBiPA142671745

Polymorphism and mutation databases

BioMutaiGATAD1
DMDMi74730762

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002889091 – 269GATA zinc finger domain-containing protein 1Add BLAST269

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Cross-linki262Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources

Keywords - PTMi

Isopeptide bond, Ubl conjugation

Proteomic databases

EPDiQ8WUU5
MaxQBiQ8WUU5
PaxDbiQ8WUU5
PeptideAtlasiQ8WUU5
PRIDEiQ8WUU5
ProteomicsDBi74711

PTM databases

iPTMnetiQ8WUU5
PhosphoSitePlusiQ8WUU5

Expressioni

Tissue specificityi

Ubiquitously expressed among various tissue types. Expressed in left ventricular myocytes.1 Publication

Gene expression databases

BgeeiENSG00000157259 Expressed in 225 organ(s), highest expression level in upper lobe of lung
CleanExiHS_GATAD1
GenevisibleiQ8WUU5 HS

Organism-specific databases

HPAiHPA006105
HPA072785

Interactioni

Subunit structurei

Component of a chromatin complex, at least composed of KDM5A, GATAD1 and EMSY.1 Publication

Protein-protein interaction databases

BioGridi121770, 53 interactors
IntActiQ8WUU5, 14 interactors
STRINGi9606.ENSP00000287957

Structurei

3D structure databases

ProteinModelPortaliQ8WUU5
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi35 – 81Gly-richAdd BLAST47

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri9 – 33GATA-typePROSITE-ProRule annotationAdd BLAST25

Keywords - Domaini

Zinc-finger

Phylogenomic databases

eggNOGiENOG410IGNZ Eukaryota
ENOG410XR16 LUCA
GeneTreeiENSGT00390000018554
HOGENOMiHOG000039281
HOVERGENiHBG067032
InParanoidiQ8WUU5
OMAiYIVGPEE
OrthoDBiEOG091G0KSX
PhylomeDBiQ8WUU5
TreeFamiTF325354

Family and domain databases

Gene3Di3.30.50.10, 1 hit
InterProiView protein in InterPro
IPR039050 GATAD1
IPR000679 Znf_GATA
IPR013088 Znf_NHR/GATA
PANTHERiPTHR13340 PTHR13340, 1 hit
PROSITEiView protein in PROSITE
PS50114 GATA_ZN_FINGER_2, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

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

Q8WUU5-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MPLGLKPTCS VCKTTSSSMW KKGAQGEILC HHCTGRGGAG SGGAGSGAAG
60 70 80 90 100
GTGGSGGGGF GAATFASTSA TPPQSNGGGG GKQSKQEIHR RSARLRNTKY
110 120 130 140 150
KSAPAAEKKV STKGKGRRHI FKLKNPIKAP ESVSTIITAE SIFYKGVYYQ
160 170 180 190 200
IGDVVSVIDE QDGKPYYAQI RGFIQDQYCE KSAALTWLIP TLSSPRDQFD
210 220 230 240 250
PASYIIGPEE DLPRKMEYLE FVCHAPSEYF KSRSSPFPTV PTRPEKGYIW
260
THVGPTPAIT IKESVANHL
Length:269
Mass (Da):28,690
Last modified:March 1, 2002 - v1
Checksum:i7DFA569A731D9003
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A2R8Y4H1A0A2R8Y4H1_HUMAN
GATA zinc finger domain-containing ...
GATAD1
176Annotation score:

Sequence cautioni

The sequence AAB46345 differs from that shown. Reason: Erroneous gene model prediction.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti255P → S in BAB15374 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03253354G → S2 PublicationsCorresponds to variant dbSNP:rs10281879EnsemblClinVar.1
Natural variantiVAR_068556102S → P in CMD2B. 1 PublicationCorresponds to variant dbSNP:rs387907188EnsemblClinVar.1
Natural variantiVAR_068557233R → W1 PublicationCorresponds to variant dbSNP:rs34768413EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK026142 mRNA Translation: BAB15374.1
AK315788 mRNA Translation: BAG38134.1
AC000064 Genomic DNA Translation: AAB46345.1 Sequence problems.
CH236949 Genomic DNA Translation: EAL24150.1
CH471091 Genomic DNA Translation: EAW76850.1
CH471091 Genomic DNA Translation: EAW76851.1
BC019350 mRNA Translation: AAH19350.1
BC031091 mRNA Translation: AAH31091.1
CCDSiCCDS5625.1
RefSeqiNP_066990.3, NM_021167.4
UniGeneiHs.21145

Genome annotation databases

EnsembliENST00000287957; ENSP00000287957; ENSG00000157259
GeneIDi57798
KEGGihsa:57798
UCSCiuc003ulx.3 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK026142 mRNA Translation: BAB15374.1
AK315788 mRNA Translation: BAG38134.1
AC000064 Genomic DNA Translation: AAB46345.1 Sequence problems.
CH236949 Genomic DNA Translation: EAL24150.1
CH471091 Genomic DNA Translation: EAW76850.1
CH471091 Genomic DNA Translation: EAW76851.1
BC019350 mRNA Translation: AAH19350.1
BC031091 mRNA Translation: AAH31091.1
CCDSiCCDS5625.1
RefSeqiNP_066990.3, NM_021167.4
UniGeneiHs.21145

3D structure databases

ProteinModelPortaliQ8WUU5
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121770, 53 interactors
IntActiQ8WUU5, 14 interactors
STRINGi9606.ENSP00000287957

PTM databases

iPTMnetiQ8WUU5
PhosphoSitePlusiQ8WUU5

Polymorphism and mutation databases

BioMutaiGATAD1
DMDMi74730762

Proteomic databases

EPDiQ8WUU5
MaxQBiQ8WUU5
PaxDbiQ8WUU5
PeptideAtlasiQ8WUU5
PRIDEiQ8WUU5
ProteomicsDBi74711

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000287957; ENSP00000287957; ENSG00000157259
GeneIDi57798
KEGGihsa:57798
UCSCiuc003ulx.3 human

Organism-specific databases

CTDi57798
DisGeNETi57798
EuPathDBiHostDB:ENSG00000157259.6
GeneCardsiGATAD1
HGNCiHGNC:29941 GATAD1
HPAiHPA006105
HPA072785
MalaCardsiGATAD1
MIMi614518 gene
614672 phenotype
neXtProtiNX_Q8WUU5
OpenTargetsiENSG00000157259
Orphaneti154 Familial isolated dilated cardiomyopathy
PharmGKBiPA142671745
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IGNZ Eukaryota
ENOG410XR16 LUCA
GeneTreeiENSGT00390000018554
HOGENOMiHOG000039281
HOVERGENiHBG067032
InParanoidiQ8WUU5
OMAiYIVGPEE
OrthoDBiEOG091G0KSX
PhylomeDBiQ8WUU5
TreeFamiTF325354

Miscellaneous databases

GenomeRNAii57798
PROiPR:Q8WUU5
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000157259 Expressed in 225 organ(s), highest expression level in upper lobe of lung
CleanExiHS_GATAD1
GenevisibleiQ8WUU5 HS

Family and domain databases

Gene3Di3.30.50.10, 1 hit
InterProiView protein in InterPro
IPR039050 GATAD1
IPR000679 Znf_GATA
IPR013088 Znf_NHR/GATA
PANTHERiPTHR13340 PTHR13340, 1 hit
PROSITEiView protein in PROSITE
PS50114 GATA_ZN_FINGER_2, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiGATD1_HUMAN
AccessioniPrimary (citable) accession number: Q8WUU5
Secondary accession number(s): B2RE37
, D6W5Q5, Q8N5Y5, Q99995, Q9H689
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 29, 2007
Last sequence update: March 1, 2002
Last modified: September 12, 2018
This is version 124 of the entry and version 1 of the sequence. See complete history.
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 7
    Human chromosome 7: 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

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