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H-Invitational ID: HIT000195374 Accession number: M30601 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 M30601.1
CAGE tag ID NA
EST ID NA
Clone Number NA
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 1360[bp] (No. of exon:6)[A:269 T:256 G:379 C:456]
Devision HUM
Molecular type mRNA
Library origin Cell type NA
Tissue type NA
Develpmental stage NA
Mini-G
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 48645016- 48652631
Strand +
Possible duplicated location(s) NA
Gene structure 6 exon(s)
Database links RefSeq NA
Ensembl NA
Entrez Gene Entrez Gene ID:2623
KEGG GENES KEGG GENES(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 59..1300;  413[aa];  Orientation:+2; 
Codon Adaptation Index (CAI). 0.816
Database links RefSeq NP_002040
UniProt P15976
CCDS CCDS14305

Motif information
ORF

length(413),orf(59:1300)
MEFPGLGSLGTSEPLPQFVDPALVSSTPESGVFFPSGPEGLDAAASSTAP
STATAAAAALAYYRDAEAYRHSPVFQVYPLLNCMEGIPGGSPYAGWAYGK
TGLYPASTVCPTREDSPPQAVEDLDGKGSTSFLETLKTERLSPDLLTLGP
ALPSSLPVPNSAYGGPDFSSTFFSPTGSPLNSAAYSSPKLRGTLPLPPCE
ARECVNCGATATPLWRRDRTGHYLCNACGLYHKMNGQNRPLIRPKKRLIV
SKRAGTQCTNCQTTTTTLWRRNASGDPVCNACGLYYKLHQVNRPLTMRKD
GIQTRNRKASGKGKKKRGSSLGGTGAAEGPAGGFMVVAGGSGSGNCGEVA
SGLTLGPPGTAHLYQGLGPVVLSGPVSHLMPFPGPLLGSPTGSFPTGPMP
PTTSTTVVAPLSS*
a.a.
length
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(34), motif(204:237) 34 IPR000679 Zinc finger, GATA-type [Domain]
length(25), motif(204:228) 25 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(25), motif(258:282) 25 IPR000679 Zinc finger, GATA-type [Domain]
length(34), motif(258:291) 34 IPR000679 Zinc finger, GATA-type [Domain]

Gene function information  Gene family PPI viewer Similarity Search Tool TACT
H-Inv ID HIT000195374
H-Inv cluster ID Locus viewHIX0203296
Accession number M30601.1
CAGE tag ID NA
EST ID NA
Transcript feature  Help NO; 
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)
DDBJ NA
UniProt GATA1
EC number NA
GGDB
(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
KEGG GENES KEGG GENES(2623)
GeneCard GeneCardGATA1*GeneCards is provided free to academic non-profit institutions.
etc H-GOLDHuman-Gene diversity Of Life-style related Diseases
Curation status Auto-annotated
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. 
NA

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
Probe
information DNAProbeLocator
AceGene AGhsA031309; 
Affymetrix
GeneChip
HG-Focus 210446_at; 
HG-U133 210446_at; 
HG-U133A 210446_at; 
HG-U133A_2 210446_at; 
HG-U133B NA
HG-U133_Plus_2 1555590_a_at;  210446_at; 
HG-U95 36787_at; 
HG-U95A 36787_at; 
HG-U95B NA
HG-U95C NA
HG-U95D NA
HG-U95E NA
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

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
109 .. 109 G/C rs12841023 + CDS Nonsynonymous[Gln17His]
123 .. 123 C/G rs139200954 + CDS Nonsynonymous[Ala22Gly]
207 .. 207 C/T rs201489369 + CDS Nonsynonymous[Pro50Leu]
216 .. 216 C/A rs142614402 + CDS Nonsynonymous[Ala53Asp]
221 .. 221 G/A rs150572851 + CDS Nonsynonymous[Ala55Thr]
232 .. 232 G/A rs139614533 + CDS Synonymous[Ala58Ala]
254 .. 254 G/A rs149753411 + CDS Nonsynonymous[Ala66Thr]
259 .. 259 G/A rs61753429 + CDS Synonymous[Glu67Glu]
268 .. 268 A/G rs141512330 + CDS Synonymous[Arg70Arg]
325 .. 325 G/A rs201336096 + CDS Synonymous[Gly89Gly]
353 .. 353 G/A rs184815507 + CDS Nonsynonymous[Gly99Ser]
360 .. 360 C/T rs200599207 + CDS Nonsynonymous[Thr101Met]
361 .. 361 G/A rs145355350 + CDS Synonymous[Thr101Thr]
397 .. 397 C/T rs147681544 + CDS Synonymous[Arg113Arg]
410 .. 410 C/T rs149177751 + CDS Nonsynonymous[Pro118Ser]
419 .. 419 G/A rs200509606 + CDS Nonsynonymous[Val121Met]
537 .. 537 A/G rs59609788 + CDS Nonsynonymous[Asn160Ser]
538 .. 538 T/C rs143332634 + CDS Synonymous[Asn160Asn]
559 .. 559 C/T rs148357840 + CDS Synonymous[Asp167Asp]
629 .. 629 C/T rs140561920 + CDS Nonsynonymous[Arg191Cys]
671 .. 671 G/A rs104894815 + CDS Nonsynonymous[Val205Met]
705 .. 705 G/A rs104894809 + CDS Nonsynonymous[Arg216Gln]
710 .. 710 G/T rs104894808 + CDS Nonsynonymous[Asp218Tyr]
711 .. 711 A/G rs104894816 + CDS Nonsynonymous[Asp218Gly]
856 .. 856 G/A rs184692721 + CDS Synonymous[Thr266Thr]
1000 .. 1000 A/G rs150473615 + CDS Synonymous[Lys314Lys]
1039 .. 1039 C/T rs138483498 + CDS Synonymous[Ala327Ala]
1088 .. 1088 G/A rs141479621 + CDS Nonsynonymous[Gly344Arg]
1103 .. 1103 G/A rs199710067 + CDS Nonsynonymous[Val349Met]
1104 .. 1104 T/C rs146196033 + CDS Nonsynonymous[Val349Ala]
1125 .. 1125 G/T rs202091014 + CDS Nonsynonymous[Gly356Val]
1160 .. 1160 G/C rs137930427 + CDS Nonsynonymous[Gly368Arg]
1231 .. 1231 G/A rs61735969 + CDS Synonymous[Thr391Thr]
1257 .. 1257 C/G rs181400617 + CDS Nonsynonymous[Pro400Arg]
1279 .. 1279 G/T rs111552375 + CDS Synonymous[Val407Val]
1288 .. 1288 G/A rs201176390 + CDS Synonymous[Pro410Pro]
1301 .. 1301 G/A rs144017862 + 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