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Hoxa1 Gene Detail
Summary
  • Symbol
    Hoxa1
  • Name
    homeobox A1
  • Synonyms
    early retinoic acid, ERA1, Hox-1.6
  • Feature Type
    protein coding gene
  • IDs
    MGI:96170
    NCBI Gene: 15394
  • Member of
    Hoxa cluster
  • Gene Overview
    MyGene.info: HOXA1
Location & Maps
more
  • Sequence Map
    Chr6:52155590-52158317 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      2728 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 6, 25.40 cM
  • Mapping Data
    5 experiments
Homology
more
  • Human Ortholog
    HOXA1, homeobox A1
  • Vertebrate Orthologs
    11
  • Human Ortholog
    HOXA1, homeobox A1
    Orthology source: HomoloGene
  • Synonyms
    BSAS, HOX1, HOX1F
  • Links
    NCBI Gene ID: 3198
    neXtProt AC: NX_P49639

  • Chr Location
    7p15.3; chr7:27092993-27096006 (-)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 4032
    1 human;1 mouse;2 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 western clawed frog;1 zebrafish
  • HCOP
    human homology predictions: HOXA1
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Hoxa1 mouse models; 1 with human HOXA1 associations

Human Disease Mouse Models
       Athabaskan Brainstem Dysgenesis Syndrome; ABDS   OMIM: 601536 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    92 phenotypes from 8 alleles in 7 genetic backgrounds
    38 phenotypes from multigenic genotypes
    38 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
    19
  • Gene trapped
    3
  • Targeted
    16
  • Genomic Mutations
    1 involving Hoxa1
Homozygotes for targeted null mutations die perinatally and exhibit altered and missing rhombomeric structures associated with abnormalities of cranial nerves and ganglia, defects in the skull, and both outer and inner ears, and anoxia at birth.
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
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
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000018885 VEGA Gene Model | MGI Sequence Detail 2728 C57BL/6J ±  kb
transcript OTTMUST00000045418 VEGA | MGI Sequence Detail 2251 Not Applicable  
polypeptide OTTMUSP00000020428 VEGA | MGI Sequence Detail 336 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    1 from dbSNP Build 142
  • PCR
  • RFLP
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 43
    Genomic 11
    cDNA 28
    Primer pair 3
    Other 1

    Microarray probesets 3
Other
Accession IDs
less
MGD-MRK-10822, MGD-MRK-10871
References
more
  • Summaries
    All 131
    Developmental Gene Expression 57
    Diseases 1
    Gene Ontology 11
    Phenotypes 38
  • Earliest
    J:8427 Duboule D, et al., A new homeo-box is present in overlapping cosmid clones which define the mouse Hox-1 locus. EMBO J. 1986 Aug;5(8):1973-80
  • Latest
    J:226322 Roux M, et al., Hoxb1 regulates proliferation and differentiation of second heart field progenitors in pharyngeal mesoderm and genetically interacts with Hoxa1 during cardiac outflow tract development. Dev Biol. 2015 Oct 15;406(2):247-58

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
07/19/2016
MGI 6.04
The Jackson Laboratory