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Hbb-b1 Gene Detail
Summary
  • Symbol
    Hbb-b1
  • Name
    hemoglobin, beta adult major chain
  • Synonyms
    beta1, beta maj, beta major globin, MommeD7
  • Feature Type
    protein coding gene
  • IDs
    MGI:96021
    NCBI Gene: 15129
  • Member of
    Hbb cluster
  • Alliance
    gene page
Location &
Maps
more
  • Sequence Map
    Genome coordinates not available from the current reference assembly.
  • Genetic Map
    Chromosome 7, 54.85 cM
  • Mapping Data
    6 experiments
Strain
Comparison
more
  • PCR
    1
  • RFLP
    3
Homology
more
  • Human Ortholog
    HBB, hemoglobin subunit beta
  • Vertebrate Orthologs
    6
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    HBB, hemoglobin subunit beta
  • Synonyms
    beta-globin, CD113t-C, ECYT6
  • Links
    NCBI Gene ID: 3043
    neXtProt AC: NX_P68871
    UniProt: P68871

  • Chr Location
    11p15.4; chr11:5225464-5229395 (-)  GRCh38
  • Human Ortholog
    HBD, hemoglobin subunit delta
  • Synonyms
    HBK
  • Links
    NCBI Gene ID: 3045
    neXtProt AC: NX_P02042
    UniProt: P02042

  • Chr Location
    11p15.4; chr11:5232678-5243657 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Hbb-b1 mouse models; 14 with human HBB associations

Human Disease Mouse Models
      
IDs
 View 17 models
      
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
 View 7 models
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    17 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    44 phenotypes from 3 alleles in 5 genetic backgrounds
    54 phenotypes from multigenic genotypes
    375 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 for a deletion of both adult hemoglobin-beta genes resemble human Cooley anemia and die perinatally. Heterozygotes are anemic with hematological abnormalities and iron accumulation. Homozygotes for a missense mutation have hemolytic anemia.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
    37
  • 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
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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
    259
  • Tissues
    70
  • cDNA Data
    9
  • Literature Summary
    76
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    • All Sequences
      16
    • RefSeq
      2
    • UniProt
      1
    Representative SequencesLengthStrain/SpeciesFlank
    genomic J00413 GenBank | ENA | DDBJ | MGI Sequence Detail 6532 BALB/c ±  kb
    transcript NM_001278161 RefSeq | MGI Sequence Detail 630 BALB/c  
    polypeptide P02088 UniProt | EBI | MGI Sequence Detail 147 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 60
      Genomic 16
      cDNA 12
      Primer pair 24
      Other 8

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-10633, MGI:2145152, MGI:3821590
    References
    more
    • Summaries
      All 503
      Developmental Gene Expression 76
      Diseases 17
      Gene Ontology 12
      Phenotypes 375
    • Earliest
      J:5898 Tilghman SM, et al., Cloning specific segments of the mammalian genome: bacteriophage lambda containing mouse globin and surrounding gene sequences. Proc Natl Acad Sci U S A. 1977 Oct;74(10):4406-10
    • 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)
    Citing These Resources
    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