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Hbb-bh1 Gene Detail
Summary
  • Symbol
    Hbb-bh1
  • Name
    hemoglobin Z, beta-like embryonic chain
  • Synonyms
    betaH1, beta Hl globin
  • Feature Type
    protein coding gene
  • IDs
    MGI:96024
    NCBI Gene: 15132
  • Member of
    Hbb cluster
  • Alliance
    gene page
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr7:103490845-103492369 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 7, 54.85 cM
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    109 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_96024
 protein coding gene Chr7:103490844-103492371 (-)
129S1/SvImJ MGP_129S1SvImJ_G0032685
 protein coding gene Chr7:107053233-107055278 (-)
A/J MGP_AJ_G0032658
 protein coding gene Chr7:104266902-104269623 (-)
AKR/J MGP_AKRJ_G0032591
 protein coding gene Chr7:106786800-106788425 (-)
BALB/cJ MGP_BALBcJ_G0032668
 protein coding gene Chr7:103998010-103999544 (-)
C3H/HeJ MGP_C3HHeJ_G0032379
 protein coding gene Chr7:107130654-107132188 (-)
C57BL/6NJ MGP_C57BL6NJ_G0033164
 protein coding gene Chr7:111040784-111042312 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0030160
 protein coding gene Chr7:106362127-106363718 (-)
CAST/EiJ MGP_CASTEiJ_G0031710
 protein coding gene Chr7:98684057-98685592 (-)
CBA/J MGP_CBAJ_G0032347
 protein coding gene Chr7:114968962-114970496 (-)
DBA/2J MGP_DBA2J_G0032501
 protein coding gene Chr7:102585439-102586973 (-)
FVB/NJ MGP_FVBNJ_G0032454
 protein coding gene Chr7:102308815-102310349 (-)
LP/J MGP_LPJ_G0032594
 protein coding gene Chr7:108372536-108374070 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0032490
 protein coding gene Chr7:116295786-116297314 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0033191
 protein coding gene Chr7:105976912-105978440 (-)
PWK/PhJ MGP_PWKPhJ_G0031424
 protein coding gene Chr7:95571272-95573008 (-)
SPRET/EiJ MGP_SPRETEiJ_G0031268
 protein coding gene Chr7:93251543-93253071 (-)
WSB/EiJ MGP_WSBEiJ_G0031824
 protein coding gene Chr7:106703753-106705298 (-)



Homology
more
  • Human Ortholog
    HBE1, hemoglobin subunit epsilon 1
  • Vertebrate Orthologs
    5
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    HBE1, hemoglobin subunit epsilon 1
  • Synonyms
    HBE
  • Links
    NCBI Gene ID: 3046
    neXtProt AC: NX_P02100
    UniProt: P02100

  • Chr Location
    11p15.4; chr11:5268345-5505652 (-)  GRCh38
  • Human Ortholog
    HBG1, hemoglobin subunit gamma 1
  • Synonyms
    HBGA, HBGR, HBG-T2, HSGGL1, PRO2979
  • Links
    NCBI Gene ID: 3047
    neXtProt AC: NX_P69891
    UniProt: P69891

  • Chr Location
    11p15.4; chr11:5248269-5249857 (-)  GRCh38
  • Human Ortholog
    HBG2, hemoglobin subunit gamma 2
  • Synonyms
    HBG-T1, TNCY
  • Links
    NCBI Gene ID: 3048
    neXtProt AC: NX_P69892
    UniProt: P69892

  • Chr Location
    11p15.4; chr11:5253188-5505605 (-)  GRCh38
Human Diseases
more
  • Diseases
    2 with human HBE1,HBG1,HBG2 associations

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

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    1 phenotype from multigenic genotypes
    14 phenotype references
  • All Mutations and Alleles
    7
  • Chemically induced (other)
    1
  • Endonuclease-mediated
    2
  • Radiation induced
    1
  • Targeted
    3
  • Genomic Mutations
    3 involving Hbb-bh1
  • Incidental Mutations
    APF
  • Find Mice (IMSR)
    8 strains or lines available
Mice with disruptions in this gene are grossly normal and viable through adulthood.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    26
  • GO References
    8
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
non-membrane-bounded 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
    1007
  • Tissues
    143
  • cDNA Data
    71
  • Literature Summary
    93
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic 15132 NCBI Gene Model | MGI Sequence Detail 1525 C57BL/6J ±  kb
transcript NM_008219 RefSeq | MGI Sequence Detail 610 ZRU/MplStud  
polypeptide P04444 UniProt | EBI | MGI Sequence Detail 147 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 114
    Genomic 15
    cDNA 74
    Primer pair 17
    Other 8

    Microarray probesets 3
Other
Accession IDs
less
MGD-MRK-10636
References
more
  • Summaries
    All 140
    Developmental Gene Expression 93
    Gene Ontology 8
    Phenotypes 14
  • Earliest
    J:6364 Jahn CL, et al., DNA sequence organization of the beta-globin complex in the BALB/c mouse. Cell. 1980 Aug;21(1):159-68
  • Latest
    J:345473 Lee JG, et al., PIBF1 regulates trophoblast syncytialization and promotes cardiovascular development. Nat Commun. 2024 Feb 19;15(1):1487
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
04/16/2024
MGI 6.23 		The Jackson Laboratory