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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
  • Alliance
  • Transcription Start Sites
    7 TSS
Location &
Maps
more
  • Sequence Map
    ChrX:7959260-7976682 bp, - strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome X, 3.59 cM, cytoband A2
  • Mapping Data
    19 experiments
  • Sequence Tag
Strain
Comparison
more
  • SNPs within 2kb
    99 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_95661
protein coding gene ChrX:7959260-7978071 (-)
129S1/SvImJ MGP_129S1SvImJ_G0035536
protein coding gene ChrX:2588190-2608483 (-)
A/J MGP_AJ_G0035513
protein coding gene ChrX:2544567-2563908 (-)
AKR/J MGP_AKRJ_G0035446
protein coding gene ChrX:2666200-2687043 (-)
BALB/cJ MGP_BALBcJ_G0035510
protein coding gene ChrX:2571548-2591075 (-)
C3H/HeJ MGP_C3HHeJ_G0035218
protein coding gene ChrX:2636183-2656106 (-)
C57BL/6NJ MGP_C57BL6NJ_G0036034
protein coding gene ChrX:2675606-2694354 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0032909
protein coding gene ChrX:2105046-2122864 (-)
CAST/EiJ MGP_CASTEiJ_G0034519
protein coding gene ChrX:2529231-2548995 (-)
CBA/J MGP_CBAJ_G0035188
protein coding gene ChrX:2801269-2823544 (-)
DBA/2J MGP_DBA2J_G0035345
protein coding gene ChrX:2566709-2585494 (-)
FVB/NJ MGP_FVBNJ_G0035292
protein coding gene ChrX:2528328-2547336 (-)
LP/J MGP_LPJ_G0035422
protein coding gene ChrX:2610384-2628927 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0035332
protein coding gene ChrX:2763605-2783373 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0036052
protein coding gene ChrX:2573354-2593114 (-)
PWK/PhJ MGP_PWKPhJ_G0034219
protein coding gene ChrX:2498260-2517395 (-)
SPRET/EiJ MGP_SPRETEiJ_G0034058
protein coding gene ChrX:2549357-2568082 (-)
WSB/EiJ MGP_WSBEiJ_G0034642
protein coding gene ChrX:2582242-2602748 (-)



Homology
more
  • Human Ortholog
    GATA1, GATA binding protein 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    GATA1, GATA binding protein 1
    Orthology source: HGNC, HomoloGene
  • Synonyms
    ERYF1, GATA-1, GF1, GF-1, NFE1, NF-E1, XLANP, XLTDA, XLTT
  • Links
    NCBI Gene ID: 2623
    neXtProt AC: NX_P15976
    UniProt: P15976

  • Chr Location
    Xp11.23; chrX:48786540-48794311 (+)  GRCh38.p7

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

Human Disease Mouse Models
      
IDs
View 1 model
      
IDs
View 1 model
IDs
View 2 models
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    4 with disease annotations
  • References
    4 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
    149 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
less
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
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 14460 NCBI Gene Model | MGI Sequence Detail 17423 C57BL/6J ±  kb
    transcript NM_008089 RefSeq | MGI Sequence Detail 1902 C57BL/6  
    polypeptide P17679 UniProt | EBI | MGI Sequence Detail 413 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 64
      Genomic 5
      cDNA 32
      Primer pair 21
      Other 6

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-10002, MGD-MRK-10054, MGD-MRK-9998
    References
    more
    • Summaries
      All 409
      Developmental Gene Expression 117
      Diseases 4
      Gene Ontology 52
      Phenotypes 149
    • 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:266349 Kim HJ, et al., Eosinophils Accelerate Pathogenesis of Psoriasis by Supporting an Inflammatory Milieu that Promotes Neutrophil Infiltration. J Invest Dermatol. 2018 Oct;138(10):2185-2194

    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
    12/04/2018
    MGI 6.13
    The Jackson Laboratory