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Hba-a1 Gene Detail
Summary
  • Symbol
    Hba-a1
  • Name
    hemoglobin alpha, adult chain 1
  • Synonyms
    alpha 1 globin, Hba1
  • Feature Type
    protein coding gene
  • IDs
    MGI:96015
    NCBI Gene: 15122
  • Member of
    Hba cluster
Location & Maps
more
  • Sequence Map
    Chr11:32283511-32284465 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      955 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 11, 18.86 cM
  • Mapping Data
    6 experiments
Homology
more
  • Human Ortholog
    HBA1, hemoglobin subunit alpha 1
  • Vertebrate Orthologs
    14
  • Human Ortholog
    HBA1, hemoglobin subunit alpha 1
    Orthology source: HGNC, HomoloGene
  • Synonyms
    HBA-T3, HBH
  • Links
    NCBI Gene ID: 3039
    neXtProt AC: NX_P69905

  • Chr Location
    16p13.3; chr16:176651-177522 (+)  GRCh38.p2

  • Human Ortholog
    HBA2, hemoglobin subunit alpha 2
    Orthology source: HGNC, HomoloGene
  • Synonyms
    HBA-T2, HBH
  • Links
    NCBI Gene ID: 3040
    neXtProt AC: NX_P69905

  • Chr Location
    16p13.3; chr16:172847-173710 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    2 with Hba-a1 mouse models; 4 with human HBA1,HBA2 associations

Human Disease Mouse Models
       Hemoglobin--Alpha Locus 1; HBA1   OMIM: 141800 View 8 models
       Hemoglobin--Beta Locus; HBB   OMIM: 141900 View 1 model
       Alpha-Thalassemia   OMIM: 604131
Heinz Body Anemias   OMIM: 140700
Hemoglobin H Disease; HBH   OMIM: 613978
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    8 with disease annotations
  • References
    23 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    20 phenotypes from 3 alleles in 4 genetic backgrounds
    72 phenotypes from multigenic genotypes
    101 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
    11
  • Chemically induced (other)
    1
  • Radiation induced
    2
  • Targeted
    3
  • Transgenic
    5
  • Genomic Mutations
    3 involving Hba-a1
Homozygotes in which both adult hemoglobin-alpha genes are deleted die late in gestation with symptoms resembling human hydrops fetalis. Allele and strain dependent erythrocyte and hemoglobin anomalies are seen in alpha1 homo- and heterozygous mutants.
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
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000005377 VEGA Gene Model | MGI Sequence Detail 955 C57BL/6J ±  kb
transcript OTTMUST00000011991 VEGA | MGI Sequence Detail 699 Not Applicable  
polypeptide OTTMUSP00000005553 VEGA | MGI Sequence Detail 142 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    23 from dbSNP Build 142
  • RFLP
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 42
    Genomic 6
    cDNA 25
    Primer pair 6
    Other 5

    Microarray probesets 6
Other
Accession IDs
less
MGD-MRK-10626
References
more
  • Summaries
    All 71
    Developmental Gene Expression 27
    Diseases 23
    Gene Ontology 3
    Phenotypes 101
  • Earliest
    J:5500 Russell ES, et al., Genetics of mouse hemoglobins. Ann N Y Acad Sci. 1974 Nov 29;241(0):25-38
  • Latest
    J:204573 Funnell AP, et al., Generation of mice deficient in both KLF3/BKLF and KLF8 reveals a genetic interaction and a role for these factors in embryonic globin gene silencing. Mol Cell Biol. 2013 Aug;33(15):2976-87

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
06/22/2016
MGI 6.04
The Jackson Laboratory