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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
  • Alliance
  • Transcription Start Sites
    7 TSS
Location &
Maps
more
  • Sequence Map
    ChrX:7825504-7842844 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
  • Genetic Map
    Chromosome X, 3.59 cM, cytoband A2
  • Mapping Data
    19 experiments
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:7825499-7844310 (-)
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
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    GATA1, GATA binding protein 1
  • Synonyms
    ERYF1, GATA-1, GF1, GF-1, HAEADA, 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

Human Diseases
more
  • Diseases
    2 with Gata1 mouse models; 8 with human GATA1 associations

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

  • Mutations/Alleles
    3 with disease annotations
  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    80 phenotypes from 16 alleles in 17 genetic backgrounds
    32 phenotypes from multigenic genotypes
    4 images
    195 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.
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
protein-containing complex
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
  • Comparison Matrix
  • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 14460 NCBI Gene Model | MGI Sequence Detail 17341 C57BL/6J ±  kb
    transcript NM_001410603 RefSeq | MGI Sequence Detail 1979 ZRU/MplStud  
    polypeptide P17679 UniProt | EBI | MGI Sequence Detail 413 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 76
      Genomic 5
      cDNA 32
      Primer pair 32
      Other 7

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-10002, MGD-MRK-10054, MGD-MRK-9998
    References
    more
    • Summaries
      All 485
      Developmental Gene Expression 144
      Diseases 4
      Gene Ontology 52
      Phenotypes 195
    • 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:345820 Cardarelli S, et al., Modulation of cAMP/cGMP signaling as prevention of congenital heart defects in Pde2A deficient embryos: a matter of oxidative stress. Cell Death Dis. 2024 Feb 23;15(2):169

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    last database update
    04/09/2024
    MGI 6.23
    The Jackson Laboratory