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Gene Symbol GATA1
Synonyms ERYF1 | GATA-1 | GF-1 | GF1 | NF-E1 | NFE1 | XLANP | XLTDA | XLTT
Gene Description GATA1, GATA binding protein 1, is both a transcriptional activator and repressor, which plays a critical role in erythroid maturation and development (PMID: 32283524), and is expressed as short and long isoforms (PMID: 31769197). GATA1 mutations are associated with megakaryocyte leukemia in Down Syndrome (PMID: 25435116; PMID: 24880866, PMID: 32238463, PMID: 31769932) and other myeloproliferative diseases (PMID: 32094462).
NCBI Gene ID Chromosome Map Location Canonical Transcript Gene Role
2623 X Xp11.23 NM_002049 Both: Oncogene and Tumor suppressor (PMID: 30606230)

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
A120S missense unknown GATA1 A120S does not lie within any known functional domains of the Gata1 protein (UniProt.org). A120S has not been characterized and therefore, its effect on Gata1 protein function is unknown (PubMed, Nov 2020).
A120V missense unknown GATA1 A120V does not lie within any known functional domains of the Gata1 protein (UniProt.org). A120V has not been characterized in the scientific literature and therefore, its effect on Gata1 protein function is unknown (PubMed, Nov 2020).
A211V missense unknown GATA1 A211V lies within the GATA-type zinc finger domain 1 of the Gata1 protein (UniProt.org). A211V has not been characterized in the scientific literature and therefore, its effect on Gata1 protein function is unknown (PubMed, Nov 2020).
A227T missense unknown GATA1 A227T lies within the GATA-type zinc finger domain 1 of the Gata1 protein (UniProt.org). A227T has not been characterized and therefore, its effect on Gata1 protein function is unknown (PubMed, Nov 2020).
A55T missense unknown GATA1 A55T lies within the N-terminal transactivation domain of the Gata1 protein (PMID: 15684376). A55T has not been characterized in the scientific literature and therefore, its effect on Gata1 protein function is unknown (PubMed, Nov 2020).
C279F missense unknown GATA1 C279F lies within the GATA-type zinc finger domain 2 of the Gata1 protein (UniProt.org). C279F has not been characterized in the scientific literature and therefore, its effect on Gata1 protein function is unknown (PubMed, Nov 2020).
D115N missense unknown GATA1 D115N does not lie within any known functional domains of the Gata1 protein (UniProt.org). D115N has not been characterized in the scientific literature and therefore, its effect on Gata1 protein function is unknown (PubMed, Nov 2020).
D20V missense unknown GATA1 D20V lies within the transcriptional activation domain of the Gata1 protein (PMID: 22556427). D20V has not been characterized in the scientific literature and therefore, its effect on Gata1 protein function is unknown (PubMed, Nov 2020).
D42N missense unknown GATA1 D42N lies within the transcriptional activation domain of the Gata1 protein (PMID: 22556427). D42N has not been characterized in the scientific literature and therefore, its effect on Gata1 protein function is unknown (PubMed, Nov 2020).
D65_C228del deletion loss of function - predicted GATA1 D65_C228del results in the deletion of 164 amino acids in the Gata1 protein from amino acids 25 to 228 (UniProt.org). D65_C228del has not been biochemically characterized, however, is predicted to confer a loss of function to the Gata1 protein due to the loss of the N-terminal zinc finger and part of the transactivation domains (PMID: 32094462).
E114K missense unknown GATA1 E114K does not lie within any known functional domains of the Gata1 protein (UniProt.org). E114K has been identified in sequencing studies (PMID: 27284958), but has not been biochemically characterized and therefore, its effect on Gata1 protein function is unknown (PubMed, Nov 2020).
E13K missense unknown GATA1 E13K lies within the transcriptional activation domain of the Gata1 protein (PMID: 22556427). E13K has not been characterized in the scientific literature and therefore, its effect on Gata1 protein function is unknown (PubMed, Nov 2020).
E2fs frameshift loss of function - predicted GATA1 E2fs results in a change in the amino acid sequence of the Gata1 protein beginning at aa 2 of 413, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of all known functional domains (UniProt.org), E2fs is predicted to lead to a loss of Gata1 protein function.
E2K missense unknown GATA1 E2K lies within the N-terminal transactivation domain of the Gata1 protein (PMID: 15684376). E2K has been identified in sequencing studies (PMID: 25589618), but has not been biochemically characterized and therefore, its effect on Gata1 protein function is unknown (PubMed, Nov 2020).
E2Vfs*37 frameshift loss of function - predicted GATA1 E2Vfs*37 indicates a shift in the reading frame starting at amino acid 2 and terminating 37 residues downstream causing a premature truncation of the 413 amino acid Gata1 protein (UniProt.org). Due to the loss of all known functional domains (PMID: 15684376), E2Vfs*37 is predicted to lead to a loss of Gata1 protein function.
E328K missense unknown GATA1 E328K lies within the MED1 and CCAR1-interacting region of the Gata1 protein (UniProt.org). E328K has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Gata1 protein function is unknown (PubMed, Nov 2020).
F172L missense unknown GATA1 F172L does not lie within any known functional domains of the Gata1 protein (UniProt.org). F172L has not been characterized in the scientific literature and therefore, its effect on Gata1 protein function is unknown (PubMed, Nov 2020).
F33L missense unknown GATA1 F33L lies within the transcriptional activation domain of the Gata1 protein (PMID: 22556427). F33L has not been characterized in the scientific literature and therefore, its effect on Gata1 protein function is unknown (PubMed, Nov 2020).
G340fs frameshift unknown GATA1 G340fs results in a change in the amino acid sequence of the Gata1 protein beginning at aa 340 of 413, likely resulting in premature truncation of the functional protein (UniProt.org). G340fs has not been characterized in the scientific literature and therefore, its effect on Gata1 protein function is unknown (PubMed, Nov 2020).
G340S missense unknown GATA1 G340S does not lie within any known functional domains of the Gata1 protein (UniProt.org). G340S has not been characterized in the scientific literature and therefore, its effect on Gata1 protein function is unknown (PubMed, Nov 2020).
G344R missense unknown GATA1 G344R does not lie within any known functional domains of the Gata1 protein (UniProt.org). G344R has not been characterized in the scientific literature and therefore, its effect on Gata1 protein function is unknown (PubMed, Nov 2020).
G366C missense unknown GATA1 G366C does not lie within any known functional domains of the Gata1 protein (UniProt.org). G366C has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Gata1 protein function is unknown (PubMed, Nov 2020).
G366D missense unknown GATA1 G366D does not lie within any known functional domains of the Gata1 protein (UniProt.org). G366D has not been characterized in the scientific literature and therefore, its effect on Gata1 protein function is unknown (PubMed, Nov 2020).
G368C missense unknown GATA1 G368C does not lie within any known functional domains of the Gata1 protein (UniProt.org). G368C has not been characterized in the scientific literature and therefore, its effect on Gata1 protein function is unknown (PubMed, Nov 2020).
G5V missense unknown GATA1 G5V lies within the transcriptional activation domain of the Gata1 protein (PMID: 22556427). G5V has not been characterized in the scientific literature and therefore, its effect on Gata1 protein function is unknown (PubMed, Nov 2020).
G89fs frameshift loss of function - predicted GATA1 G89fs results in a change in the amino acid sequence of the Gata1 protein beginning at aa 89 of 413, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the zinc finger domains required for Gata1 function (PMID: 15684376), G89fs is predicted to lead to a loss of Gata1 protein function.
G90Afs*47 frameshift loss of function - predicted GATA1 G90Afs*47 indicates a shift in the reading frame starting at amino acid 90 and terminating 47 residues downstream causing a premature truncation of the 413 amino acid Gata1 protein (UniProt.org). Due to the loss of the zinc finger domains required for Gata1 function (PMID: 15684376), G90Afs*47 is predicted to lead to a loss of Gata1 protein function.
inact mut unknown loss of function GATA1 inact mut indicates that this variant results in a loss of function of the Gata1 protein. However, the specific amino acid change has not been identified.
K312Q missense unknown GATA1 K312Q lies within the MED1 and CCAR1, and CALCOCO1-interacting regions of the Gata1 protein (UniProt.org). K312Q has not been characterized in the scientific literature and therefore, its effect on Gata1 protein function is unknown (PubMed, Nov 2020).
L321V missense unknown GATA1 L321V lies within the MED1 and CCAR1-interacting region of the Gata1 protein (UniProt.org). L321V has been identified in sequencing studies (PMID: 26168399), but has not been biochemically characterized and therefore, its effect on Gata1 protein function is unknown (PubMed, Nov 2020).
M1? unknown loss of function - predicted GATA1 M1? indicates a disruption of the methionine (M) start codon with an unknown translational effect on the Gata1 protein. M1? has not been characterized and therefore, its effect on Gata1 protein function is unknown (PubMed, Dec 2019).
mutant unknown unknown GATA1 mutant indicates an unspecified mutation in the GATA1 gene.
N226D missense unknown GATA1 N226D lies within the GATA-type zinc finger domain 1 of the Gata1 protein (UniProt.org). N226D has not been characterized in the scientific literature and therefore, its effect on Gata1 protein function is unknown (PubMed, Nov 2020).
over exp none no effect GATA1 over exp indicates an over expression of the Gata1 protein. However, the mechanism causing the over expression is unspecified.
P150H missense unknown GATA1 P150H does not lie within any known functional domains of the Gata1 protein (UniProt.org). P150H has not been characterized in the scientific literature and therefore, its effect on Gata1 protein function is unknown (PubMed, Nov 2020).
P159H missense unknown GATA1 P159H does not lie within any known functional domains of the Gata1 protein (UniProt.org). P159H has not been characterized in the scientific literature and therefore, its effect on Gata1 protein function is unknown (PubMed, Nov 2020).
P166T missense unknown GATA1 P166T does not lie within any known functional domains of the Gata1 protein (UniProt.org). P166T has not been characterized in the scientific literature and therefore, its effect on Gata1 protein function is unknown (PubMed, Nov 2020).
P357S missense unknown GATA1 P357S does not lie within any known functional domains of the Gata1 protein (UniProt.org). P357S has not been characterized in the scientific literature and therefore, its effect on Gata1 protein function is unknown (PubMed, Nov 2020).
P358Qfs*74 frameshift unknown GATA1 P358Qfs*74 indicates a shift in the reading frame starting at amino acid 358 and terminating 74 residues downstream, resulting in premature truncation of the functional protein and extension of the 413aa Gata1 protein length by 19 amino acids (UniProt.org). P358Qfs*74 has not been characterized in the scientific literature and therefore, its effect on Gata1 protein function is unknown (PubMed, Nov 2020).
P401L missense unknown GATA1 P401L does not lie within any known functional domains of the Gata1 protein (UniProt.org). P401L has been identified in sequencing studies (PMID: 26168399)., but has not been biochemically characterized and therefore, its effect on Gata1 protein function is unknown (PubMed, Nov 2020).
P401S missense unknown GATA1 P401S does not lie within any known functional domains of the Gata1 protein (UniProt.org). P401S has been identified in sequencing studies (PMID: 28403382), but has not been biochemically characterized and therefore, its effect on Gata1 protein function is unknown (PubMed, Nov 2020).
P50L missense unknown GATA1 P50L lies within the transcriptional activation domain of the Gata1 protein (PMID: 22556427). P50L has not been characterized in the scientific literature and therefore, its effect on Gata1 protein function is unknown (PubMed, Nov 2020).
Q17* nonsense loss of function - predicted GATA1 Q17* results in a premature truncation of the Gata1 protein at amino acid 17 of 413 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), Q17* is predicted to lead to a loss of Gata1 protein function.
Q303* nonsense unknown GATA1 Q303* results in a premature truncation of the Gata1 protein at amino acid 303 of 413 (UniProt.org). Q303* has not been characterized in the scientific literature and therefore, its effect on Gata1 protein function is unknown (PubMed, Nov 2020).
Q76* nonsense loss of function - predicted GATA1 Q76* results in a premature truncation of the Gata1 protein at amino acid 76 of 413 (UniProt.org). Due to the loss of the zinc finger regions (UniProt.org), Q76* is predicted to lead to a loss of Gata1 protein function.
Q76E missense unknown GATA1 Q76E lies within the transcriptional activation domain of the Gata1 protein (PMID: 22556427). Q76E has not been characterized in the scientific literature and therefore, its effect on Gata1 protein function is unknown (PubMed, Nov 2020).
Q76H missense unknown GATA1 Q76H lies within the transcriptional activation domain of the Gata1 protein (PMID: 22556427). Q76H has not been characterized in the scientific literature and therefore, its effect on Gata1 protein function is unknown (PubMed, Nov 2020).
R113C missense unknown GATA1 R113C does not lie within any known functional domains of the Gata1 protein (UniProt.org). R113C has been identified in sequencing studies (PMID: 29844865), but has not been biochemically characterized and therefore, its effect on Gata1 protein function is unknown (PubMed, Nov 2020).
R113H missense unknown GATA1 R113H does not lie within any known functional domains of the Gata1 protein (UniProt.org). R113H has been identified in sequencing studies (PMID: 23525077), but has not been biochemically characterized and therefore, its effect on Gata1 protein function is unknown (PubMed, Nov 2020).
R140W missense unknown GATA1 R140W does not lie within any known functional domains of the Gata1 protein (UniProt.org). R140W has been identified in sequencing studies (PMID: 24030381), but has not been biochemically characterized and therefore, its effect on Gata1 protein function is unknown (PubMed, Nov 2020).
R216Q missense unknown GATA1 R216Q lies within the GATA-type zinc finger domain 1 of the Gata1 protein (UniProt.org). R216Q results in minor changes in DNA dissociation rate and gene expression regulation, but is able to support erythroid maturation to similar level of wild-type Gata1 in culture (PMID: 12200364).
R247C missense unknown GATA1 R247C lies within the MED1 and CCAR1-interacting region of the Gata1 protein (UniProt.org). R247C has been identified in sequencing studies (PMID: 28825054), but has not been biochemically characterized and therefore, its effect on Gata1 protein function is unknown (PubMed, Nov 2020).
R253Q missense unknown GATA1 R253Q lies within the MED1 and CCAR1, and CALCOCO1-interacting regions of the Gata1 protein (UniProt.org). R253Q has not been characterized in the scientific literature and therefore, its effect on Gata1 protein function is unknown (PubMed, Nov 2020).
R270W missense unknown GATA1 R270W lies within the GATA-type zinc finger domain 2 of the Gata1 protein (UniProt.org). R270W has been identified in sequencing studies (PMID: 27470916), but has not been biochemically characterized and therefore, its effect on Gata1 protein function is unknown (PubMed, Nov 2020).
R298W missense unknown GATA1 R298W lies within the MED1 and CCAR1, and CALCOCO1-interacting regions of the Gata1 protein (UniProt.org). R298W has not been characterized in the scientific literature and therefore, its effect on Gata1 protein function is unknown (PubMed, Nov 2020).
R305* nonsense unknown GATA1 R305* results in a premature truncation of the Gata1 protein at amino acid 305 of 413 (UniProt.org). R305* has not been characterized in the scientific literature and therefore, its effect on Gata1 protein function is unknown (PubMed, Nov 2020).
R307C missense unknown GATA1 R307C lies within the MED1 and CCAR1, and CALCOCO1-interacting regions of the Gata1 protein (UniProt.org). R307C has not been characterized in the scientific literature and therefore, its effect on Gata1 protein function is unknown (PubMed, Nov 2020).
R307H missense unknown GATA1 R307H lies within the MED1 and CCAR1, and CALCOCO1-interacting regions of the Gata1 protein (UniProt.org). R307H has been identified in the scientific literature (Blood 2016 128(22):400), but has not been characterized in the scientific literature and therefore, its effect on Gata1 protein function is unknown (PubMed, Nov 2020).
R307L missense unknown GATA1 R307L lies within the MED1 and CCAR1, and CALCOCO1-interacting regions of the Gata1 protein (UniProt.org). R307L has not been characterized in the scientific literature and therefore, its effect on Gata1 protein function is unknown (PubMed, Nov 2020).
S116C missense unknown GATA1 S116C does lie within any known functional domains of the Gata1 protein (UniProt.org). S116C has not been characterized in the scientific literature and therefore, its effect on Gata1 protein function is unknown (PubMed, Nov 2020).
S129R missense unknown GATA1 S129R does not lie within any known functional domains of the Gata1 protein (UniProt.org). S129R has not been characterized in the scientific literature and therefore, its effect on Gata1 protein function is unknown (PubMed, Nov 2020).
S187F missense unknown GATA1 S187F does not lie within any known functional domains of the Gata1 protein (UniProt.org). S187F has not been characterized in the scientific literature and therefore, its effect on Gata1 protein function is unknown (PubMed, Nov 2020).
S30* nonsense loss of function - predicted GATA1 S30* results in a premature truncation of the Gata1 protein at amino acid 30 of 413 (UniProt.org). Due to the loss of most known functional domains (UniProt.org), S30* is predicted to lead to a loss of Gata1 protein function.
S310Y missense unknown GATA1 S310Y lies within the MED1 and CCAR1, and CALCOCO1-interacting regions of the Gata1 protein (UniProt.org). S310Y has not been characterized in the scientific literature and therefore, its effect on Gata1 protein function is unknown (PubMed, Nov 2020).
T130N missense unknown GATA1 T130N does not lie within any known functional domains of the Gata1 protein (UniProt.org). T130N has not been characterized in the scientific literature and therefore, its effect on Gata1 protein function is unknown (PubMed, Nov 2020).
T176I missense unknown GATA1 T176I does not lie within any known functional domains of the Gata1 protein (UniProt.org). T176I has not been characterized in the scientific literature and therefore, its effect on Gata1 protein function is unknown (PubMed, Nov 2020).
T263M missense no effect GATA1 T263M lies within the GATA-type zinc finger domain 2 of the Gata1 protein (UniProt.org). T263M demonstrates cellular localization and phosphorylation similar to wild-type Gata1 protein in culture (Blood 2013 122(21):3668) and therefore, has no effect on Gata1 protein function.
T266M missense unknown GATA1 T266M lies within the GATA-type zinc finger domain 2 of the Gata1 protein (UniProt.org). T266M has not been characterized and therefore, its effect on Gata1 protein function is unknown (PubMed, Nov 2020).
T391M missense unknown GATA1 T391M does not lie within any known functional domains of the Gata1 protein (UniProt.org). T391M has been identified in sequencing studies (PMID: 22722839), but has not been biochemically characterized and therefore, its effect on Gata1 protein function is unknown (PubMed, Nov 2020).
T54N missense unknown GATA1 T54N lies within the transcriptional activation domain of the Gata1 protein (PMID: 22556427). T54N has not been characterized in the scientific literature and therefore, its effect on Gata1 protein function is unknown (PubMed, Nov 2020).
V278M missense unknown GATA1 V278M lies within the GATA-type zinc finger domain 2 of the Gata1 protein (UniProt.org). V278M has been identified in sequencing studies (PMID: 22895193), but has not been characterized in the scientific literature and therefore, its effect on Gata1 protein function is unknown (PubMed, Nov 2020).
V32Ffs*7 frameshift loss of function - predicted GATA1 V32Ffs*7 indicates a shift in the reading frame starting at amino acid 32 and terminating 7 residues downstream causing a premature truncation of the 413 amino acid Gata1 protein (UniProt.org). Due to the loss of the zinc finger domains required for Gata1 function (PMID: 15684376), V32Ffs*7 is predicted to lead to a loss of Gata1 protein function.
V74I missense unknown GATA1 V74I lies within the transcriptional activation domain of the Gata1 protein (PMID: 22556427). V74I has been identified in sequencing studies (PMID: 24056718), but has not been biochemically characterized and therefore, its effect on Gata1 protein function is unknown (PubMed, Nov 2020).
W96R missense unknown GATA1 W96R does not lie within any known functional domains of the Gata1 protein (UniProt.org). W96R has been identified in sequencing studies (PMID: 26168399), but has not been biochemically characterized and therefore, its effect on Gata1 protein function is unknown (PubMed, Nov 2020).
wild-type none no effect Wild-type GATA1 indicates that no mutation has been detected within the GATA1 gene.
Y98* nonsense loss of function - predicted GATA1 Y98* results in a premature truncation of the Gata1 protein at amino acid 98 of 413 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), Y98* is predicted to lead to a loss of Gata1 protein function.