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Gata1 Gene Detail
Summary
  • Symbol
    Gata1
  • Name
    GATA binding protein 1
  • Synonyms
    Gata-1, Gf-1
  • Feature Type
    protein coding gene
  • IDs
    MGI:95661
    NCBI Gene: 14460
  • Gene Overview
    MyGene.info: GATA1
Location & Maps
more
  • Genetic Map
    Chromosome X, 3.59 cM, cytoband A2
  • Mapping Data
    19 experiments
  • Sequence Tag
Homology
more
  • Human Ortholog
    GATA1, GATA binding protein 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    GATA1, GATA binding protein 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    ERYF1, GATA-1, GF1, GF-1, NFE1, NF-E1, XLANP, XLTDA, XLTT
  • Links
    NCBI Gene ID: 2623
    neXtProt AC: NX_P15976

  • Chr Location
    Xp11.23; chrX:48786560-48794311 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    2 with Gata1 mouse models; 4 with human GATA1 associations

Human Disease Mouse Models
       Myelofibrosis   OMIM: 254450 View 2 models
Thrombocytopenia 1; THC1   OMIM: 313900 View 1 model
       Anemia, X-Linked, with or without Neutropenia and/or Platelet Abnormalities; XLANP   OMIM: 300835
Down Syndrome   OMIM: 190685
Thrombocytopenia with Beta-Thalassemia, X-Linked; XLTT   OMIM: 314050
Thrombocytopenia, X-Linked, with or without Dyserythropoietic Anemia;   OMIM: 300367
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    4 with disease annotations
  • References
    5 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    86 phenotypes from 19 alleles in 21 genetic backgrounds
    21 phenotypes from multigenic genotypes
    4 images
    126 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    21
  • Chemically induced (ENU)
    1
  • Gene trapped
    1
  • Targeted
    15
  • Transgenic
    4
  • Incidental Mutations
    APF
Mutation of this locus affects hematopoiesis. Most hemizygous mutant males mice die at mid-gestation and exhibit blocked erythroid development. Female null and hypomorphic mutants survive birth but exhibit varying degrees of anemia and impaired hematopoiesis.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000018011 VEGA Gene Model | MGI Sequence Detail 18812 C57BL/6J ±  kb
transcript OTTMUST00000043496 VEGA | MGI Sequence Detail 1902 Not Applicable  
polypeptide OTTMUSP00000019548 VEGA | MGI Sequence Detail 413 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    102 from dbSNP Build 142
  • RFLP
Protein
Information
less
Molecular
Reagents
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  • All nucleic 55
    Genomic 5
    cDNA 30
    Primer pair 17
    Other 3

    Microarray probesets 4
Other
Accession IDs
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MGD-MRK-10002, MGD-MRK-10054, MGD-MRK-9998
References
more
  • Summaries
    All 336
    Developmental Gene Expression 109
    Diseases 5
    Gene Ontology 46
    Phenotypes 126
  • Earliest
    J:9808 Tsai SF, et al., Cloning of cDNA for the major DNA-binding protein of the erythroid lineage through expression in mammalian cells. Nature. 1989 Jun 8;339(6224):446-51
  • Latest
    J:234118 Constanzo JD, et al., Pias1 is essential for erythroid and vascular development in the mouse embryo. Dev Biol. 2016 Jul 1;415(1):98-110

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
09/13/2016
MGI 6.05
The Jackson Laboratory