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H-Invitational ID: HIT000321608 Accession number: X17254 Created date: 26-Mar-2013 Last modified: 27-May-2015
Definition: Erythroid transcription factor; Eryf1; GATA-binding factor 1; GATA-1; GF-1; NF-E1 DNA-binding protein;

Transcript original information
Accession number X17254.1
Clone Number H9
Experimental resources NBRC: NITE Biological Resource Center  NBRC ; HGPD: Human Gene and Protein Database HGPD ; Antibody: searching human antibodies at "BIO-kaimono.com" Antibody (GATA1) ; Catalog: searching experimental product catalogs at "BIO-kaimono.com" Catalog (GATA1);
Sequence data provider NA
Annotation project NA
Length of cDNA 1498[bp] (No. of exon:6)[A:307 T:279 G:410 C:502]
Devision HUM
Molecular type mRNA
Library origin Cell type NA
Tissue type bone marrow
Develpmental stage NA
Sequence quality information
CDS feature Complete CDS
Kozak sequence NA
PolyA NA
Vector/adapter sequence NA
Frame shift NA
Remaining intron NA
Splice site acceptor (NAGNAG) NA
Transcript quality feature NA
Notes NA

Gene structure information  G-integra H-DBAS cDNA-genome alignment
H-Inv cluster ID HIX0203296
Genomic location  G-integra Help Chromosome X
Location Xp11.23
Position 48644962- 48652715
Strand +
Possible duplicated location(s) NA
Gene structure 6 exon(s)
Database links RefSeq NA
Ensembl NA
Entrez Gene Entrez Gene ID:2623
GeneCard GeneCardGATA1*GeneCards is provided free to academic non-profit institutions.
Related H-InvDB links H-DBASH-DBAS G-integraG-integra cDNA-genome alignmentcDNA-genome alignment

Predicted CDS information
HIP ID HIP000046196
Predicted CDS 113..1354;  413[aa];  Orientation:+2; 
Codon Adaptation Index (CAI). 0.817
Database links RefSeq NP_002040
UniProt P15976

Motif information

InterPro Name
length(51), motif(198:248) 51 IPR000679 Zinc finger, GATA-type [Domain]
length(56), motif(198:253) 56 IPR000679 Zinc finger, GATA-type [Domain]
length(50), motif(200:249) 50 IPR013088 Zinc finger, NHR/GATA-type [Domain]
length(18), motif(200:217) 18 IPR000679 Zinc finger, GATA-type [Domain]
length(25), motif(204:228) 25 IPR000679 Zinc finger, GATA-type [Domain]
length(34), motif(204:237) 34 IPR000679 Zinc finger, GATA-type [Domain]
length(18), motif(218:235) 18 IPR000679 Zinc finger, GATA-type [Domain]
length(59), motif(251:309) 59 IPR013088 Zinc finger, NHR/GATA-type [Domain]
length(54), motif(252:305) 54 IPR000679 Zinc finger, GATA-type [Domain]
length(51), motif(252:302) 51 IPR000679 Zinc finger, GATA-type [Domain]
length(34), motif(258:291) 34 IPR000679 Zinc finger, GATA-type [Domain]
length(25), motif(258:282) 25 IPR000679 Zinc finger, GATA-type [Domain]

Gene function information  Gene family PPI viewer Similarity Search Tool TACT
H-Inv ID HIT000321608
H-Inv cluster ID Locus viewHIX0203296
Accession number X17254.1
Transcript feature  Help Representative H-Inv IDRepresentative transcript;  Splicing isoformSplicing isoform
Coding potential  Help Protein coding; 
Definition Erythroid transcription factor; Eryf1; GATA-binding factor 1; GATA-1; GF-1; NF-E1 DNA-binding protein;
Similarity category  Help Category: Identical to known human protein(Category I).
Identical to known human protein (P15976)  [Identity/coverage = 100.0%/100.0%] to Homo sapiens (Human). protein.
Experimental evidence Protein evidence
PubMed ID 210496023005558524811985999710700180114184661167533811809723122003641548933415772651163714761678337917420275ALL
Gene family/group Gene family H-Inv gene family/group ID NA
Gene family/group name NA
Evidence motif (InterPro) ID NA
Gene symbol/name HGNC symbol GATA1
HGNC aliases "GATA-binding protein 1 (globin transcription factor 1)"
HGNC name GATA binding protein 1 (globin transcription factor 1)
UniProt GATA1
EC number NA
(GlycoGene Database)
Gene symbol NA
Familly NA
Designation NA
Expression NA
KEGG metabolic pathway NA
Protein-protein interaction (PPI) PPI viewer H-Inv protein ID HIP000046196
No. of interaction 4
Interaction partner(s) HIP000023536HIP000164501HIP000166002HIP000357174
BIND 182219;  182220; 
DIP 102856E;  102859E; 
MINT MINT-2840161; 
HPRD 00774;  01261;  01305;  01496;  01574;  01586;  01901;  02534;  02799;  02852;  03479;  04115;  04260;  04737;  05055;  06784;  07038;  09025;  09246;  11762;  11800;  18350; 
IntAct NA
Database links RefSeq NA
Ensembl NA
Entrez Gene Entrez Gene ID:2623
GeneCard GeneCardGATA1*GeneCards is provided free to academic non-profit institutions.
etc H-GOLDHuman-Gene diversity Of Life-style related Diseases
Curation status Human curated
Notes NA
Related H-InvDB links Gene familyGene family;  Similarity Search ToolSimilarity Search Tool TACTTACT
fRNAdb (The functional RNA database) : overlapping fRNAdb entries with H-InvDB transcripts based on the location of the genome. 

Gene ontology information
Molecular function zinc ion binding (GO:0008270);  sequence-specific DNA binding (GO:0043565);  transcription factor activity (GO:0003700); 
Biological process regulation of transcription, DNA-dependent (GO:0006355); 

Subcellular localization information  Last modified:27-May-2015
WoLF PSORT nuclear; 
Target P Other
SOSUI soluble protein
TMHMM soluble protein
PTS1 Not targeted
Related H-InvDB links LIFEdb LIFEdb; 
JRE-1.4.0 or later is required. Download JRE at Sun's web site.

Protein structure information (GTOP) GTOP Last modified:27-May-2015
Start End PDB_ID E-value Identity Coverage SCOP_ID
202 253 1gatA 2e-17 44.2 52/60 g.39.1.1
268 304 4gatA 5e-12 59.5 37/66 g.39.1.1
Related H-InvDB links GTOP GTOP

Gene expression information  H-ANGEL DNAProbeLocator Last modified:27-May-2015
Tissue-specific expression  H-ANGEL NA
information DNAProbeLocator
AceGene AGhsA031309; 
HG-Focus 210446_at; 
HG-U133 210446_at; 
HG-U133A 210446_at; 
HG-U133A_2 210446_at; 
HG-U133_Plus_2 1555590_a_at;  210446_at; 
HG-U95 36787_at; 
HG-U95A 36787_at; 
HG-U95Av2 NA
HuEx-1_0 3976833;  3976838;  3976839;  3976840;  3976841;  3976842;  3976843;  3976844;  3976845; 
HuGeneFL X17254_at; 
Agilent Human 1A Oligo Microarray:PGID215 A_23_P304464; 
Whole Human Genome Oligo Microarray:PGID247 A_24_P374244; 
Related H-InvDB links H-ANGELH-ANGEL DNAProbeLocatorDNAProbeLocator

Disease/pathology information  DiseaseInfo Viewer LEGENDA Last modified:27-May-2015
Disease relation Disease name: Macrothrombocytopenia (300367);  Disease name: Leukemia, megakaryoblastic, with or without Down syndrome (190685);  Disease name: Thrombocytopenia with beta-thalassemia, X-linked (314050); 
Related information in OMIM OMIM ID:  305371;  Title: GATA-BINDING PROTEIN 1
Co-localized orphan diseases NA
Disease related mutation NA
Literature-Extracted GENe-Disease Associations (LEGENDA) LEGENDA Gene name Entrez Gene ID:(2623)
Disease Entrez Gene ID:(2623)
Substance Entrez Gene ID:(2623)
Related H-InvDB links DiseaseInfo ViewerDiseaseInfo ViewerLEGENDALEGENDA

Evolutionary information  Evola Help Last modified:27-May-2015
Relationship Species Accession number MGI Links
Orthology Mus sp. (Mouse) AK146915 MGI:3571836 G-integraG-integra
Orthology Rattus sp. (Rat) D13518 G-integraG-integra
Orthology Canis sp. (Dog) ENSCAFT00000024680 G-integraG-integra
Orthology Equus sp. (Horse) ENSECAT00000010829 G-integraG-integra
Orthology Oryzias sp. (Medaka) ENSORLT00000021423 G-integraG-integra
Orthology Pongo sp. (Orangutan) ENSPPYT00000023708 G-integraG-integra
Orthology Takifugu sp. (Fugu) SINFRUT00000164819 G-integraG-integra
Orthology Danio sp. (Zebrafish) U18311 G-integraG-integra
Orthology Macaca sp. (Macaque) XM_001104486 G-integraG-integra
Orthology Monodelphis sp. (Opossum) XM_001372000 G-integraG-integra
Orthology Danio sp. (Zebrafish) XM_688279 G-integraG-integra
Orthology Bos sp. (Cow) XM_868355 G-integraG-integra
Phylogenetic tree [View by ATV]
Neighbor-joining (phb) 
Related H-InvDB links EvolaEvoladN/dS (under constraction); 

Polymorphism (SNP, indel), microsatellite (Short Tandem Repeat, STR) and repeat information  VaryGene Repeat mask viewer
 Single Nucleotide Polymorphism (SNP) and indel  VaryGene
Location Variation dbSNP ID Strand CDS/UTR Translation
163 .. 163 G/C rs12841023 + CDS Nonsynonymous[Gln17His]
177 .. 177 C/G rs139200954 + CDS Nonsynonymous[Ala22Gly]
261 .. 261 C/T rs201489369 + CDS Nonsynonymous[Pro50Leu]
270 .. 270 C/A rs142614402 + CDS Nonsynonymous[Ala53Asp]
275 .. 275 G/A rs150572851 + CDS Nonsynonymous[Ala55Thr]
286 .. 286 G/A rs139614533 + CDS Synonymous[Ala58Ala]
308 .. 308 G/A rs149753411 + CDS Nonsynonymous[Ala66Thr]
313 .. 313 G/A rs61753429 + CDS Synonymous[Glu67Glu]
322 .. 322 A/G rs141512330 + CDS Synonymous[Arg70Arg]
379 .. 379 G/A rs201336096 + CDS Synonymous[Gly89Gly]
407 .. 407 G/A rs184815507 + CDS Nonsynonymous[Gly99Ser]
414 .. 414 C/T rs200599207 + CDS Nonsynonymous[Thr101Met]
415 .. 415 G/A rs145355350 + CDS Synonymous[Thr101Thr]
451 .. 451 C/T rs147681544 + CDS Synonymous[Arg113Arg]
464 .. 464 C/T rs149177751 + CDS Nonsynonymous[Pro118Ser]
473 .. 473 G/A rs200509606 + CDS Nonsynonymous[Val121Met]
591 .. 591 A/G rs59609788 + CDS Nonsynonymous[Asn160Ser]
592 .. 592 T/C rs143332634 + CDS Synonymous[Asn160Asn]
613 .. 613 C/T rs148357840 + CDS Synonymous[Asp167Asp]
683 .. 683 C/T rs140561920 + CDS Nonsynonymous[Arg191Cys]
725 .. 725 G/A rs104894815 + CDS Nonsynonymous[Val205Met]
759 .. 759 G/A rs104894809 + CDS Nonsynonymous[Arg216Gln]
764 .. 764 G/T rs104894808 + CDS Nonsynonymous[Asp218Tyr]
765 .. 765 A/G rs104894816 + CDS Nonsynonymous[Asp218Gly]
910 .. 910 G/A rs184692721 + CDS Synonymous[Thr266Thr]
1054 .. 1054 A/G rs150473615 + CDS Synonymous[Lys314Lys]
1093 .. 1093 C/T rs138483498 + CDS Synonymous[Ala327Ala]
1142 .. 1142 G/A rs141479621 + CDS Nonsynonymous[Gly344Arg]
1157 .. 1157 G/A rs199710067 + CDS Nonsynonymous[Val349Met]
1158 .. 1158 T/C rs146196033 + CDS Nonsynonymous[Val349Ala]
1179 .. 1179 G/T rs202091014 + CDS Nonsynonymous[Gly356Val]
1214 .. 1214 G/C rs137930427 + CDS Nonsynonymous[Gly368Arg]
1285 .. 1285 G/A rs61735969 + CDS Synonymous[Thr391Thr]
1311 .. 1311 C/G rs181400617 + CDS Nonsynonymous[Pro400Arg]
1333 .. 1333 G/T rs111552375 + CDS Synonymous[Val407Val]
1342 .. 1342 G/A rs201176390 + CDS Synonymous[Pro410Pro]
1355 .. 1355 G/A rs144017862 + 3'UTR
1415 .. 1415 C/T rs1126581 + 3'UTR
1432 .. 1432 C/T rs1126582 + 3'UTR
 Microsatellite (Short Tandem Repeat, STR)
No data available
 Microsatellite: Human-Gene diversity Of Life-style related Diseases (H-GOLD)
No data available
 Repeat  Repeat mask viewer
No data available
Database links H-GOLDHuman-Gene diversity Of Life-style related Diseases(H-GOLD)
Related H-InvDB links VaryGeneVaryGene Repeat mask viewerRepeat Mask Viewer