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Hbb-b1 hemoglobin, beta adult major chain [ Mus musculus (house mouse) ]

Gene ID: 15129, updated on 27-Nov-2024

Summary

Official Symbol
Hbb-b1provided by MGI
Official Full Name
hemoglobin, beta adult major chainprovided by MGI
Primary source
MGI:MGI:96021
See related
AllianceGenome:MGI:96021
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Hbb1; Hbbt1; Hbbt2; beta1; MommeD7
Summary
This gene encodes a beta polypeptide chain found in adult hemoglobin, which consists of a tetramer of two alpha chains and two beta chains, and which functions in the transport of oxygen to various peripheral tissues. This gene is one of a cluster of beta-hemoglobin genes that are distally regulated by a locus control region, and which are organized along the chromosome in the order of their developmental expression. In mouse, two major strain-specific haplotypes of the beta-globin gene cluster are found - a "single" haplotype found in C57BL/-type strains, which includes two highly similar adult beta-globin genes, beta s and beta t, and a "diffuse" haplotype found in strains such as BALB/c and 129Sv, which includes two somewhat diverse adult beta-globin genes, beta-major and beta-minor. This gene represents the beta-major adult gene found in the "diffuse" haplotype. Primary chromosome 7 of the mouse reference genome assembly, which is derived from C57BL/6 strain mice, represents the "single" haplotype, while the "diffuse" haplotype is represented in the reference genome collection by the BALB/c strain alternate contig, NT_095534.1. [provided by RefSeq, May 2013]
Annotation information
Note: In NCBI's Mus musculus Annotation Release 103, this haplotype-specific gene was incorrectly annotated on the chromosome 7 (NC_000073.6) primary reference genome assembly. It has been determined that this Hbb-b1 gene represents an adult beta-globin gene of the "diffuse" haplotype, and therefore its annotation belongs on the alternate contig, NT_095534.1. The primary reference genome allele represents the "single" haplotype (PMID:7237554), and the Hbb-bt gene (GeneID:101488143) should instead be annotated at this NC_000073.6 location. Correct annotation of these haplotype-specific genes is expected following future annotation releases. [17 Jun 2014]
not in current annotation release
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Genomic context

See Hbb-b1 in Genome Data Viewer
Location:
7 E3; 7 54.85 cM
Annotation release Status Assembly Chr Location
108.20200622 latest, but not current GRCm38.p6 (GCF_000001635.26) 7 Unlocalized Scaffold (BALB/c) NT_095534.1 (38285..39684)

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by MGI

Function Evidence Code Pubs
contributes_to haptoglobin binding IBA
Inferred from Biological aspect of Ancestor
more info
 
contributes_to haptoglobin binding ISO
Inferred from Sequence Orthology
more info
 
enables heme binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables heme binding IEA
Inferred from Electronic Annotation
more info
 
enables hemoglobin alpha binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables hemoglobin alpha binding ISO
Inferred from Sequence Orthology
more info
 
enables hemoglobin beta binding ISO
Inferred from Sequence Orthology
more info
 
enables hemoglobin binding ISO
Inferred from Sequence Orthology
more info
 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables oxygen binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables oxygen binding IEA
Inferred from Electronic Annotation
more info
 
contributes_to oxygen binding ISO
Inferred from Sequence Orthology
more info
 
enables oxygen binding ISO
Inferred from Sequence Orthology
more info
 
enables oxygen carrier activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables oxygen carrier activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
contributes_to peroxidase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
contributes_to peroxidase activity ISO
Inferred from Sequence Orthology
more info
 
enables protein-containing complex binding ISO
Inferred from Sequence Orthology
more info
 
Process Evidence Code Pubs
involved_in carbon dioxide transport NAS
Non-traceable Author Statement
more info
PubMed 
acts_upstream_of_or_within erythrocyte development IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within hemopoiesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in hydrogen peroxide catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in nitric oxide transport ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within oxygen transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in oxygen transport ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within regulation of eIF2 alpha phosphorylation by heme IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
located_in extracellular space ISO
Inferred from Sequence Orthology
more info
 
part_of haptoglobin-hemoglobin complex IBA
Inferred from Biological aspect of Ancestor
more info
 
part_of haptoglobin-hemoglobin complex ISO
Inferred from Sequence Orthology
more info
 
part_of hemoglobin complex IBA
Inferred from Biological aspect of Ancestor
more info
 
part_of hemoglobin complex IDA
Inferred from Direct Assay
more info
PubMed 
part_of hemoglobin complex IMP
Inferred from Mutant Phenotype
more info
PubMed 
part_of hemoglobin complex IPI
Inferred from Physical Interaction
more info
PubMed 
part_of hemoglobin complex ISO
Inferred from Sequence Orthology
more info
 
located_in myelin sheath HDA PubMed 

General protein information

Preferred Names
hemoglobin subunit beta-1
Names
beta maj
beta major globin

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001278161.1NP_001265090.1  hemoglobin subunit beta-1

    See identical proteins and their annotated locations for NP_001265090.1

    Status: VALIDATED

    Source sequence(s)
    X14061
    UniProtKB/Swiss-Prot
    P02088, Q54AI0, Q91V86, Q9CRZ2, Q9CXH5, Q9CY12, Q9CY54, Q9R0S6
    UniProtKB/TrEMBL
    A8DUK0, A8DUP7, D0U269, D0U270, D4N6R6
    Conserved Domains (1) summary
    cd08925
    Location:8146
    Hb-beta-like; Hemoglobin beta, gamma, delta, epsilon, and related Hb subunits