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

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

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

results revealed iron deficiency induced expression changes in two genes which have never before been implicated in an iron-dopamine pathway, Cxcl12 and hemoglobin, beta adult chain
Title: Iron deficiency alters expression of dopamine-related genes in the ventral midbrain in mice.
Dynamic changes in chromatin structure of the beta-globin locus, were examined.
Title: Super-resolution imaging reveals three-dimensional folding dynamics of the β-globin locus upon gene activation.
GATA1-HS2 enhancer allows persistent and position-independent expression of a beta-globin transgene
Title: The GATA1-HS2 enhancer allows persistent and position-independent expression of a β-globin transgene.
The limiting effect on RNA levels occurs after beta-globin genes associate with transcription factories, at which time hypersensitivity sites contribute to the RNA arising from each burst of transcription by stimulating transcriptional elongation.
Title: The hypersensitive sites of the murine β-globin locus control region act independently to affect nuclear localization and transcriptional elongation.
cerebral microvasculature is rendered vulnerable to thrombus formation in beta(s) mice via a neutrophil-dependent mechanism that is associated with an increased formation of and enhanced platelet sensitivity to thrombin
Title: Mechanisms of enhanced thrombus formation in cerebral microvessels of mice expressing hemoglobin-S.
Ldb1 stabilizes its erythroid complex partners on beta-globin chromatin, even though it is not one of the DNA-binding components. In addition, Ldb1 is necessary for enrichment of key transcriptional components in the locus.
Title: Multiple functions of Ldb1 required for beta-globin activation during erythroid differentiation.
The acetylation of EKLF plays a role in its ability to alter the beta-like globin locus chromatin structure and activate transcription of the adult beta-globin gene.
Title: Acetylation of EKLF is essential for epigenetic modification and transcriptional activation of the beta-globin locus.
Bach1 repression of ferritin and thioredoxin reductase1 is heme-sensitive in cells and in vitro and coordinates expression with heme oxygenase1, beta-globin, and NADP(H) quinone (oxido) reductase1.
Title: Bach1 repression of ferritin and thioredoxin reductase1 is heme-sensitive in cells and in vitro and coordinates expression with heme oxygenase1, beta-globin, and NADP(H) quinone (oxido) reductase1.
MLL2 complex associates with the hematopoietic activator NF-E2 in erythroid cells and is important for H3K4 trimethylation and maximal levels of transcription at the beta-globin locus.
Title: Activator-mediated recruitment of the MLL2 methyltransferase complex to the beta-globin locus.

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Variation

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Alleles

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

Chemically induced (ENU) (2) 1 citation
Endonuclease-mediated (1)
Targeted (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AI747626 (e-PCR)
- UniSTS:208168

Hbb-b1 (e-PCR), detects polymorphism
- UniSTS:516684

Hbb-b1 (e-PCR), detects polymorphism
- UniSTS:256863

Hbb-b1 (e-PCR), detects polymorphism
- UniSTS:531320

Hbb-b1 (e-PCR), detects polymorphism
- UniSTS:525965

Hbb-b1 (e-PCR), detects polymorphism
- UniSTS:516509

AI036344 (e-PCR)
- UniSTS:165546

Hbb-b1 (e-PCR), detects polymorphism
- UniSTS:499134

Hbb-b1 (e-PCR), detects polymorphism
- UniSTS:516561

Hbb-b2 (e-PCR), detects polymorphism
- UniSTS:516562

Hbb (e-PCR), detects polymorphism
- UniSTS:143324

Hbb-b1 (e-PCR), detects polymorphism
- UniSTS:143326

Hbb-b1 (e-PCR), detects polymorphism
- UniSTS:259550

Hbb-b2 (e-PCR), detects polymorphism
- UniSTS:143327

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 more info	PubMed

General protein information

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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.