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P15976

- GATA1_HUMAN

UniProt

P15976 - GATA1_HUMAN

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Protein
Erythroid transcription factor
Gene
GATA1, ERYF1, GF1
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Transcriptional activator or repressor which probably serves as a general switch factor for erythroid development. It binds to DNA sites with the consensus sequence 5'-[AT]GATA[AG]-3' within regulatory regions of globin genes and of other genes expressed in erythroid cells.1 Publication

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri204 – 22825GATA-type 1
Add
BLAST
Zinc fingeri258 – 28225GATA-type 2
Add
BLAST

GO - Molecular functioni

  1. C2H2 zinc finger domain binding Source: BHF-UCL
  2. DNA binding Source: UniProtKB
  3. DNA binding, bending Source: Ensembl
  4. RNA polymerase II core promoter proximal region sequence-specific DNA binding Source: Ensembl
  5. RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription Source: BHF-UCL
  6. RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription Source: Ensembl
  7. RNA polymerase II regulatory region sequence-specific DNA binding Source: BHF-UCL
  8. RNA polymerase II transcription factor binding Source: BHF-UCL
  9. chromatin DNA binding Source: UniProtKB
  10. enhancer sequence-specific DNA binding Source: Ensembl
  11. protein binding Source: UniProtKB
  12. sequence-specific DNA binding Source: BHF-UCL
  13. sequence-specific DNA binding transcription factor activity Source: BHF-UCL
  14. transcription regulatory region sequence-specific DNA binding Source: BHF-UCL
  15. zinc ion binding Source: InterPro
Complete GO annotation...

GO - Biological processi

  1. basophil differentiation Source: BHF-UCL
  2. blood coagulation Source: Reactome
  3. cell-cell signaling Source: Ensembl
  4. cellular response to thyroid hormone stimulus Source: UniProtKB
  5. dendritic cell differentiation Source: Ensembl
  6. embryonic hemopoiesis Source: Ensembl
  7. eosinophil differentiation Source: BHF-UCL
  8. eosinophil fate commitment Source: BHF-UCL
  9. erythrocyte development Source: BHF-UCL
  10. erythrocyte differentiation Source: BHF-UCL
  11. in utero embryonic development Source: Ensembl
  12. male gonad development Source: BHF-UCL
  13. megakaryocyte differentiation Source: BHF-UCL
  14. negative regulation of apoptotic process Source: UniProtKB
  15. negative regulation of bone mineralization Source: Ensembl
  16. negative regulation of cell proliferation Source: Ensembl
  17. negative regulation of extrinsic apoptotic signaling pathway in absence of ligand Source: BHF-UCL
  18. negative regulation of transcription from RNA polymerase II promoter Source: UniProtKB
  19. negative regulation of transcription regulatory region DNA binding Source: BHF-UCL
  20. platelet aggregation Source: BHF-UCL
  21. platelet formation Source: BHF-UCL
  22. positive regulation of erythrocyte differentiation Source: UniProtKB
  23. positive regulation of osteoblast proliferation Source: Ensembl
  24. positive regulation of peptidyl-tyrosine phosphorylation Source: BHF-UCL
  25. positive regulation of transcription from RNA polymerase II promoter Source: BHF-UCL
  26. regulation of definitive erythrocyte differentiation Source: BHF-UCL
  27. regulation of glycoprotein biosynthetic process Source: BHF-UCL
  28. transcription from RNA polymerase II promoter Source: BHF-UCL
  29. transcriptional activation by promoter-enhancer looping Source: BHF-UCL
Complete GO annotation...

Keywords - Molecular functioni

Activator, Repressor

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding, Metal-binding, Zinc

Enzyme and pathway databases

ReactomeiREACT_24970. Factors involved in megakaryocyte development and platelet production.
SignaLinkiP15976.

Names & Taxonomyi

Protein namesi
Recommended name:
Erythroid transcription factor
Alternative name(s):
Eryf1
GATA-binding factor 1
Short name:
GATA-1
Short name:
GF-1
NF-E1 DNA-binding protein
Gene namesi
Name:GATA1
Synonyms:ERYF1, GF1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome X

Organism-specific databases

HGNCiHGNC:4170. GATA1.

Subcellular locationi

GO - Cellular componenti

  1. nucleoplasm Source: Reactome
  2. nucleus Source: UniProtKB
  3. transcription factor complex Source: BHF-UCL
  4. transcriptional repressor complex Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

X-linked dyserythropoietic anemia and thrombocytopenia (XDAT) [MIM:300367]: Disorder characterized by erythrocytes with abnormal size and shape, and paucity of platelets in peripheral blood. The bone marrow contains abundant and abnormally small megakaryocytes.
Note: The disease is caused by mutations affecting the gene represented in this entry.4 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti205 – 2051V → M in XDAT; severe impairment of ZFPM1 binding and erythroid differentiation in vitro. 1 Publication
VAR_010115
Natural varianti208 – 2081G → S in XDAT; partially disrupts the interaction with ZFPM1. 1 Publication
VAR_012706
Natural varianti218 – 2181D → G in XDAT; partially disrupts the interaction with ZFPM1. 1 Publication
VAR_012707
Natural varianti218 – 2181D → Y in XDAT; stronger loss of affinity than of G-218-GATA1 for ZFPM1 and disturbed GATA1 self-association. 1 Publication
VAR_033115
Thrombocytopenia with beta-thalassemia, X-linked (XLTT) [MIM:314050]: An unusual form of thrombocytopenia associated with beta-thalassemia. Patients have splenomegaly and petechiae, moderate thrombocytopenia, prolonged bleeding time due to platelet dysfunction, reticulocytosis and unbalanced (hemo)globin chain synthesis resembling that of beta-thalassemia minor.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti216 – 2161R → Q in XLTT; does not affect ZFPM1 binding; reduced affinity to palindromic GATA sites; supports erythroid maturation less efficiently than wild-type GATA1. 1 Publication
VAR_033114
Anemia without thrombocytopenia, X-linked (XLAWT) [MIM:300835]: A form of anemia characterized by abnormal morphology of erythrocytes and granulocytes in peripheral blood, bone marrow dysplasia with hypocellularity of erythroid and granulocytic lineages, and normal or increased number of megakaryocytes. Neutropenia of a variable degree is present in affected individuals.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi137 – 1371K → R: Abolishes sumoylation. 1 Publication
Mutagenesisi142 – 1421S → A: Loss of sumoylation. 1 Publication
Mutagenesisi142 – 1421S → D: Increased sumoylation in vitro. 1 Publication
Mutagenesisi204 – 2041C → R: Increase of dissociation rate from bound DNA. 1 Publication

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi300367. phenotype.
300835. phenotype.
314050. phenotype.
Orphaneti86849. Acute basophilic leukemia.
231393. Beta-thalassemia - X-linked thrombocytopenia.
79277. Congenital erythropoietic porphyria.
67044. Thrombocytopenia with congenital dyserythropoietic anemia.
363727. X-linked dyserythropoetic anemia with abnormal platelets and neutropenia.
PharmGKBiPA28584.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 413413Erythroid transcription factor
PRO_0000083397Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei26 – 261Phosphoserine By similarity
Modified residuei72 – 721Phosphoserine By similarity
Cross-linki137 – 137Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)1 Publication
Modified residuei142 – 1421Phosphoserine1 Publication
Modified residuei178 – 1781Phosphoserine By similarity
Modified residuei187 – 1871Phosphoserine By similarity
Modified residuei233 – 2331N6-acetyllysine; by EP300 Inferred
Modified residuei245 – 2451N6-acetyllysine; by EP300 Inferred
Modified residuei246 – 2461N6-acetyllysine; by CREBBP; alternate By similarity
Modified residuei246 – 2461N6-acetyllysine; by EP300; alternate Inferred
Modified residuei252 – 2521N6-acetyllysine; by CREBBP By similarity
Modified residuei308 – 3081N6-acetyllysine By similarity
Modified residuei310 – 3101Phosphoserine By similarity
Modified residuei312 – 3121N6-acetyllysine; by CREBBP By similarity
Modified residuei314 – 3141N6-acetyllysine By similarity
Modified residuei315 – 3151N6-acetyllysine By similarity

Post-translational modificationi

Highly phosphorylated on serine residues. Phosphorylation on Ser-310 is enhanced on erythroid differentiation. Phosphorylation on Ser-142 promotes sumoylation on Lys-137 By similarity.1 Publication
Sumoylation on Lys-137 is enhanced by phosphorylation on Ser-142 and by interaction with PIAS4. Sumoylation with SUMO1 has no effect on transcriptional activity By similarity.1 Publication
Acetylated at 2 conserved lysine-rich motifs by CREBBP in vitro. Acetylation does not affect DNA-binding in vitro but is essential to induce erythroid differentiation and for binding chromatin in vivo By similarity. Acetylated on Lys-233, Lys-245 Lys-246 by EP300.1 Publication

Keywords - PTMi

Acetylation, Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

MaxQBiP15976.
PaxDbiP15976.
PRIDEiP15976.

PTM databases

PhosphoSiteiP15976.

Miscellaneous databases

PMAP-CutDBP15976.

Expressioni

Tissue specificityi

Erythrocytes.1 Publication

Gene expression databases

ArrayExpressiP15976.
BgeeiP15976.
CleanExiHS_GATA1.
GenevestigatoriP15976.

Organism-specific databases

HPAiCAB009195.
HPA000232.
HPA000233.

Interactioni

Subunit structurei

May form homodimers or heterodimers with other isoforms. Interacts (via the N-terminal zinc finger) with ZFPM1. Interacts with GFI1B. Interacts with PIAS4; the interaction enhances sumoylation and represses the transactivational activity in a sumoylation-independent manner. Interacts with LMCD1. Interacts with BRD3 By similarity. Interacts with CREBBP; the interaction stimulates acetylation and transcriptional activity in vivo By similarity. Interacts with EP300.8 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
HSPA1BP081075EBI-3909284,EBI-629985

Protein-protein interaction databases

BioGridi108893. 44 interactions.
DIPiDIP-41431N.
IntActiP15976. 6 interactions.
MINTiMINT-247486.
STRINGi9606.ENSP00000365858.

Structurei

3D structure databases

ProteinModelPortaliP15976.
SMRiP15976. Positions 200-310.

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni203 – 22220Required for interaction with ZFPM1
Add
BLAST

Domaini

The two fingers are functionally distinct and cooperate to achieve specific, stable DNA binding. The first finger is necessary only for full specificity and stability of binding, whereas the second one is required for binding By similarity.

Sequence similaritiesi

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

eggNOGiCOG5641.
HOGENOMiHOG000047701.
HOVERGENiHBG051705.
InParanoidiP15976.
KOiK09182.
OMAiPLLNCVE.
PhylomeDBiP15976.
TreeFamiTF315391.

Family and domain databases

Gene3Di3.30.50.10. 2 hits.
InterProiIPR029524. GATA-1.
IPR016374. TF_GATA-1/2/3.
IPR000679. Znf_GATA.
IPR013088. Znf_NHR/GATA.
[Graphical view]
PANTHERiPTHR10071:SF150. PTHR10071:SF150. 1 hit.
PfamiPF00320. GATA. 2 hits.
[Graphical view]
PIRSFiPIRSF003027. TF_GATA-1/2/3. 1 hit.
PRINTSiPR00619. GATAZNFINGER.
SMARTiSM00401. ZnF_GATA. 2 hits.
[Graphical view]
PROSITEiPS00344. GATA_ZN_FINGER_1. 2 hits.
PS50114. GATA_ZN_FINGER_2. 2 hits.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing and alternative initiation. Align

Isoform 1 (identifier: P15976-1) [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

MEFPGLGSLG TSEPLPQFVD PALVSSTPES GVFFPSGPEG LDAAASSTAP    50
STATAAAAAL AYYRDAEAYR HSPVFQVYPL LNCMEGIPGG SPYAGWAYGK 100
TGLYPASTVC PTREDSPPQA VEDLDGKGST SFLETLKTER LSPDLLTLGP 150
ALPSSLPVPN SAYGGPDFSS TFFSPTGSPL NSAAYSSPKL RGTLPLPPCE 200
ARECVNCGAT ATPLWRRDRT GHYLCNACGL YHKMNGQNRP LIRPKKRLIV 250
SKRAGTQCTN CQTTTTTLWR RNASGDPVCN ACGLYYKLHQ VNRPLTMRKD 300
GIQTRNRKAS GKGKKKRGSS LGGTGAAEGP AGGFMVVAGG SGSGNCGEVA 350
SGLTLGPPGT AHLYQGLGPV VLSGPVSHLM PFPGPLLGSP TGSFPTGPMP 400
PTTSTTVVAP LSS 413
Length:413
Mass (Da):42,751
Last modified:April 1, 1990 - v1
Checksum:i822BD2DE14B908AD
GO
Isoform 2 (identifier: P15976-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     290-413: QVNRPLTMRK...STTVVAPLSS → HQHYCGGSAQ...KSLGPRHPLA

Note: No experimental confirmation available.

Show »
Length:335
Mass (Da):35,430
Checksum:i9CE44220E09F69D7
GO
Isoform 3 (identifier: P15976-3) [UniParc]FASTAAdd to Basket

Also known as: GATA-1s

The sequence of this isoform differs from the canonical sequence as follows:
     1-83: Missing.

Note: Produced by alternative initiation at Met-84 of isoform 1.

Show »
Length:330
Mass (Da):34,232
Checksum:iE5ACD72BCBDB40B1
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti205 – 2051V → M in XDAT; severe impairment of ZFPM1 binding and erythroid differentiation in vitro. 1 Publication
VAR_010115
Natural varianti208 – 2081G → S in XDAT; partially disrupts the interaction with ZFPM1. 1 Publication
VAR_012706
Natural varianti216 – 2161R → Q in XLTT; does not affect ZFPM1 binding; reduced affinity to palindromic GATA sites; supports erythroid maturation less efficiently than wild-type GATA1. 1 Publication
VAR_033114
Natural varianti218 – 2181D → G in XDAT; partially disrupts the interaction with ZFPM1. 1 Publication
VAR_012707
Natural varianti218 – 2181D → Y in XDAT; stronger loss of affinity than of G-218-GATA1 for ZFPM1 and disturbed GATA1 self-association. 1 Publication
VAR_033115

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 8383Missing in isoform 3.
VSP_041451Add
BLAST
Alternative sequencei290 – 413124QVNRP…APLSS → HQHYCGGSAQLMRAQSMASR GGVVSFSSCSQNSGQPKSLG PRHPLA in isoform 2.
VSP_014782Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
X17254 mRNA. Translation: CAA35120.1.
M30601 mRNA. Translation: AAA35885.1.
AF196971 Genomic DNA. No translation available.
BC009797 mRNA. Translation: AAH09797.1.
CCDSiCCDS14305.1. [P15976-1]
PIRiA34888.
RefSeqiNP_002040.1. NM_002049.3. [P15976-1]
UniGeneiHs.765.

Genome annotation databases

EnsembliENST00000376670; ENSP00000365858; ENSG00000102145. [P15976-1]
ENST00000596667; ENSP00000469059; ENSG00000267841. [P15976-1]
GeneIDi2623.
KEGGihsa:2623.
UCSCiuc004dkq.4. human. [P15976-1]

Polymorphism databases

DMDMi120956.

Keywords - Coding sequence diversityi

Alternative initiation, Alternative splicing

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
X17254 mRNA. Translation: CAA35120.1 .
M30601 mRNA. Translation: AAA35885.1 .
AF196971 Genomic DNA. No translation available.
BC009797 mRNA. Translation: AAH09797.1 .
CCDSi CCDS14305.1. [P15976-1 ]
PIRi A34888.
RefSeqi NP_002040.1. NM_002049.3. [P15976-1 ]
UniGenei Hs.765.

3D structure databases

ProteinModelPortali P15976.
SMRi P15976. Positions 200-310.
ModBasei Search...

Protein-protein interaction databases

BioGridi 108893. 44 interactions.
DIPi DIP-41431N.
IntActi P15976. 6 interactions.
MINTi MINT-247486.
STRINGi 9606.ENSP00000365858.

PTM databases

PhosphoSitei P15976.

Polymorphism databases

DMDMi 120956.

Proteomic databases

MaxQBi P15976.
PaxDbi P15976.
PRIDEi P15976.

Protocols and materials databases

DNASUi 2623.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000376670 ; ENSP00000365858 ; ENSG00000102145 . [P15976-1 ]
ENST00000596667 ; ENSP00000469059 ; ENSG00000267841 . [P15976-1 ]
GeneIDi 2623.
KEGGi hsa:2623.
UCSCi uc004dkq.4. human. [P15976-1 ]

Organism-specific databases

CTDi 2623.
GeneCardsi GC0XP048644.
GeneReviewsi GATA1.
HGNCi HGNC:4170. GATA1.
HPAi CAB009195.
HPA000232.
HPA000233.
MIMi 300367. phenotype.
300835. phenotype.
305371. gene.
314050. phenotype.
neXtProti NX_P15976.
Orphaneti 86849. Acute basophilic leukemia.
231393. Beta-thalassemia - X-linked thrombocytopenia.
79277. Congenital erythropoietic porphyria.
67044. Thrombocytopenia with congenital dyserythropoietic anemia.
363727. X-linked dyserythropoetic anemia with abnormal platelets and neutropenia.
PharmGKBi PA28584.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG5641.
HOGENOMi HOG000047701.
HOVERGENi HBG051705.
InParanoidi P15976.
KOi K09182.
OMAi PLLNCVE.
PhylomeDBi P15976.
TreeFami TF315391.

Enzyme and pathway databases

Reactomei REACT_24970. Factors involved in megakaryocyte development and platelet production.
SignaLinki P15976.

Miscellaneous databases

GeneWikii GATA1.
GenomeRNAii 2623.
NextBioi 10331.
PMAP-CutDB P15976.
PROi P15976.
SOURCEi Search...

Gene expression databases

ArrayExpressi P15976.
Bgeei P15976.
CleanExi HS_GATA1.
Genevestigatori P15976.

Family and domain databases

Gene3Di 3.30.50.10. 2 hits.
InterProi IPR029524. GATA-1.
IPR016374. TF_GATA-1/2/3.
IPR000679. Znf_GATA.
IPR013088. Znf_NHR/GATA.
[Graphical view ]
PANTHERi PTHR10071:SF150. PTHR10071:SF150. 1 hit.
Pfami PF00320. GATA. 2 hits.
[Graphical view ]
PIRSFi PIRSF003027. TF_GATA-1/2/3. 1 hit.
PRINTSi PR00619. GATAZNFINGER.
SMARTi SM00401. ZnF_GATA. 2 hits.
[Graphical view ]
PROSITEi PS00344. GATA_ZN_FINGER_1. 2 hits.
PS50114. GATA_ZN_FINGER_2. 2 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Structure and evolution of a human erythroid transcription factor."
    Trainor C.D., Evans T., Felsenfeld G., Boguski M.S.
    Nature 343:92-96(1990) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    Tissue: Bone marrow.
  2. "The major human erythroid DNA-binding protein (GF-1): primary sequence and localization of the gene to the X chromosome."
    Zon L.I., Tsai S.-F., Burgess S., Matsudaira P., Bruns G.A.P., Orkin S.H.
    Proc. Natl. Acad. Sci. U.S.A. 87:668-672(1990) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), PARTIAL PROTEIN SEQUENCE.
    Tissue: Erythrocyte.
  3. "The DNA sequence of the human X chromosome."
    Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.
    , Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., Rogers J., Bentley D.R.
    Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: Bone marrow.
  5. "Alternative translation initiation site usage results in two functionally distinct forms of the GATA-1 transcription factor."
    Calligaris R., Bottardi S., Cogoi S., Apezteguia I., Santoro C.
    Proc. Natl. Acad. Sci. U.S.A. 92:11598-11602(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: ALTERNATIVE INITIATION (ISOFORM 3), SUBUNIT, TISSUE SPECIFICITY.
  6. "Regulation of activity of the transcription factor GATA-1 by acetylation."
    Boyes J., Byfield P., Nakatani Y., Ogryzko V.
    Nature 396:594-598(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH EP300, ACETYLATION AT LYS-233; LYS-245 AND LYS-246.
  7. "An inherited mutation leading to production of only the short isoform of GATA-1 is associated with impaired erythropoiesis."
    Hollanda L.M., Lima C.S., Cunha A.F., Albuquerque D.M., Vassallo J., Ozelo M.C., Joazeiro P.P., Saad S.T., Costa F.F.
    Nat. Genet. 38:807-812(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN XLAWT.
  8. Cited for: SUMOYLATION AT LYS-137, PHOSPHORYLATION AT SER-142, MUTAGENESIS OF LYS-137 AND SER-142.
  9. "GATA-1 and Gfi-1B interplay to regulate Bcl-xL transcription."
    Kuo Y.-Y., Chang Z.-F.
    Mol. Cell. Biol. 27:4261-4272(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH GFI1B.
  10. "Knockdown of ZNF268, which is transcriptionally downregulated by GATA-1, promotes proliferation of K562 cells."
    Zeng Y., Wang W., Ma J., Wang X., Guo M., Li W.
    PLoS ONE 7:E29518-E29518(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, DNA-BINDING.
  11. "Familial dyserythropoietic anaemia and thrombocytopenia due to an inherited mutation in GATA1."
    Nichols K.E., Crispino J.D., Poncz M., White J.G., Orkin S.H., Maris J.M., Weiss M.J.
    Nat. Genet. 24:266-270(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT XDAT MET-205, INTERACTION WITH ZFPM1, CHARACTERIZATION OF VARIANT XDAT MET-205, MUTAGENESIS OF CYS-204.
    Tissue: Peripheral blood.
  12. "Platelet characteristics in patients with X-linked macrothrombocytopenia because of a novel GATA1 mutation."
    Freson K., Devriendt K., Matthijs G., Van Hoof A., De Vos R., Thys C., Minner K., Hoylaerts M.F., Vermylen J., Van Geet C.
    Blood 98:85-92(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT XDAT GLY-218, INTERACTION WITH ZFPM1, CHARACTERIZATION OF VARIANT XDAT GLY-218.
  13. "X-linked thrombocytopenia caused by a novel mutation of GATA-1."
    Mehaffey M.G., Newton A.L., Gandhi M.J., Crossley M., Drachman J.G.
    Blood 98:2681-2688(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT XDAT SER-208, INTERACTION WITH ZFPM1, CHARACTERIZATION OF VARIANT XDAT SER-208.
  14. "X-linked thrombocytopenia with thalassemia from a mutation in the amino finger of GATA-1 affecting DNA binding rather than FOG-1 interaction."
    Yu C., Niakan K.K., Matsushita M., Stamatoyannopoulos G., Orkin S.H., Raskind W.H.
    Blood 100:2040-2045(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT XLTT GLN-216, INTERACTION WITH ZFPM1, CHARACTERIZATION OF VARIANT XLTT GLN-216.
  15. "Different substitutions at residue D218 of the X-linked transcription factor GATA1 lead to altered clinical severity of macrothrombocytopenia and anemia and are associated with variable skewed X inactivation."
    Freson K., Matthijs G., Thys C., Marieen P., Hoylaerts M.F., Vermylen J., Van Geet C.
    Hum. Mol. Genet. 11:147-152(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT XDAT TYR-218, INTERACTION WITH ZFPM1, CHARACTERIZATION OF VARIANT XDAT TYR-218.

Entry informationi

Entry nameiGATA1_HUMAN
AccessioniPrimary (citable) accession number: P15976
Secondary accession number(s): Q96GB8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 1, 1990
Last sequence update: April 1, 1990
Last modified: September 3, 2014
This is version 158 of the entry and version 1 of the sequence. [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, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome X
    Human chromosome X: 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
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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