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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
  • Alliance
    gene page
  • Transcription Start Sites
    1 TSS
  • Candidate for QTL
    1 QTL
Location &
Maps
more
  • Sequence Map
    Chr11:32233672-32234486 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 11, 18.86 cM
  • Mapping Data
    6 experiments
Strain
Comparison
more
  • SNPs within 2kb
    111 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    3
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_96015
 protein coding gene Chr11:32233511-32234486 (+)
129S1/SvImJ MGP_129S1SvImJ_G0023399
 protein coding gene Chr17:25447668-25448555 (-)
A/J MGP_AJ_G0023358
 protein coding gene Chr17:24681915-24682802 (-)
AKR/J MGP_AKRJ_G0023324
 protein coding gene Chr17:24794866-24795753 (-)
BALB/cJ MGP_BALBcJ_G0023363
 protein coding gene Chr17:24904158-24905045 (-)
C3H/HeJ MGP_C3HHeJ_G0023123
 protein coding gene Chr17:25185901-25186788 (-)
C57BL/6NJ MGP_C57BL6NJ_G0018526
 protein coding gene Chr11:31495031-31495985 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0016181
 protein coding gene Chr11:27863390-27864326 (+)
CAST/EiJ MGP_CASTEiJ_G0022625
 protein coding gene Chr17:25108233-25109120 (-)
CBA/J MGP_CBAJ_G0023098
 protein coding gene Chr17:27457975-27458862 (-)
DBA/2J MGP_DBA2J_G0023228
 protein coding gene Chr17:24274793-24275680 (-)
FVB/NJ MGP_FVBNJ_G0023198
 protein coding gene Chr17:24037719-24038606 (-)
LP/J MGP_LPJ_G0023305
 protein coding gene Chr17:25721128-25722015 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0023217
 protein coding gene Chr17:27016876-27017763 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0023845
 protein coding gene Chr17:25152190-25153077 (-)
PWK/PhJ MGP_PWKPhJ_G0022374
 protein coding gene Chr17:23048842-23049729 (-)
SPRET/EiJ MGP_SPRETEiJ_G0022192
 protein coding gene Chr17:23209466-23210358 (-)
WSB/EiJ MGP_WSBEiJ_G0022688
 protein coding gene Chr17:25176335-25177223 (-)



Homology
more
  • Human Ortholog
    HBA1, hemoglobin subunit alpha 1
  • Vertebrate Orthologs
    7
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    HBA1, hemoglobin subunit alpha 1
  • Synonyms
    ECYT7, HBA-T3, HBH, METHBA
  • Links
    NCBI Gene ID: 3039
    neXtProt AC: NX_P69905
    UniProt: P69905

  • Chr Location
    16p13.3; chr16:176680-177522 (+)  GRCh38
  • Human Ortholog
    HBA2, hemoglobin subunit alpha 2
  • Synonyms
    ECYT7, HBA-T2, HBH
  • Links
    NCBI Gene ID: 3040
    neXtProt AC: NX_P69905
    UniProt: P69905

  • Chr Location
    16p13.3; chr16:172876-173710 (+)  GRCh38
Human Diseases
more
  • Diseases
    4 with human HBA1,HBA2 associations

Human Disease Mouse Models
      
IDs
 View 7 models
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • References
    8 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    20 phenotypes from 3 alleles in 4 genetic backgrounds
    14 phenotypes from multigenic genotypes
    255 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.
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
less
  • All GO Annotations
    36
  • GO References
    12
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
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
    795
  • Tissues
    35
  • cDNA Data
    22
  • Literature Summary
    34
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 15122 NCBI Gene Model | MGI Sequence Detail 815 C57BL/6J ±  kb
    transcript NM_008218 RefSeq | MGI Sequence Detail 569 ZRU/MplStud  
    polypeptide P01942 UniProt | EBI | MGI Sequence Detail 142 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 48
      Genomic 6
      cDNA 26
      Primer pair 10
      Other 6

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGD-MRK-10626
    References
    more
    • Summaries
      All 340
      Developmental Gene Expression 34
      Diseases 8
      Gene Ontology 12
      Phenotypes 255
    • 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:355579 Kaminski TW, et al., Impaired hemoglobin clearance by sinusoidal endothelium promotes vaso-occlusion and liver injury in sickle cell disease. Haematologica. 2024 May 1;109(5):1535-1550
    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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    Send questions and comments to User Support.     		last database update
    11/19/2024
    MGI 6.24     		The Jackson Laboratory