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Protein

GATA zinc finger domain-containing protein 1

Gene

GATAD1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

HGNCiHGNC:29941. GATAD1.

Subcellular locationi

GO - Cellular componenti

  • nucleoplasm Source: HPA
  • nucleus Source: UniProtKB

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:rs387907188Ensembl.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.

PTM databases

iPTMnetiQ8WUU5.
PhosphoSitePlusiQ8WUU5.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000157259.
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
IPR000679. Znf_GATA.
IPR013088. Znf_NHR/GATA.
PROSITEiView protein in PROSITE
PS50114. GATA_ZN_FINGER_2. 1 hit.

Sequencei

Sequence statusi: Complete.

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

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:rs10281879Ensembl.1
Natural variantiVAR_068556102S → P in CMD2B. 1 PublicationCorresponds to variant dbSNP:rs387907188Ensembl.1
Natural variantiVAR_068557233R → W1 PublicationCorresponds to variant dbSNP:rs34768413Ensembl.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

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: August 30, 2017
This is version 117 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 entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot