About   Help   FAQ
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
  • Alliance
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, HGNC
  • Synonyms
    BSAS, HOX1, HOX1F
  • Links
    NCBI Gene ID: 3198
    neXtProt AC: NX_P49639
    UniProt: P49639

  • Chr Location
    7p15.2; chr7:27092993-27096006 (-)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 4032
    1 human;1 mouse;2 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • 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
      
IDs
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
less
  • Phenotype Summary
    92 phenotypes from 8 alleles in 7 genetic backgrounds
    45 phenotypes from multigenic genotypes
    40 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.
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
less
  • 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 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 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 46
      Genomic 11
      cDNA 29
      Primer pair 5
      Other 1

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-10822, MGD-MRK-10871
    References
    more
    • Summaries
      All 151
      Developmental Gene Expression 62
      Diseases 1
      Gene Ontology 12
      Phenotypes 40
    • 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:251931 De Kumar B, et al., Hoxa1 targets signaling pathways during neural differentiation of ES cells and mouse embryogenesis. Dev Biol. 2017 Dec 1;432(1):151-164

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
    Warranty Disclaimer & Copyright Notice
    Send questions and comments to User Support.
    last database update
    10/09/2018
    MGI 6.12
    The Jackson Laboratory