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

Summary

Official Symbol: Hbb-bsprovided by MGI
Official Full Name: hemoglobin, beta adult s chainprovided by MGI
Primary source: MGI:MGI:5474852
See related: Ensembl:ENSMUSG00000052305 AllianceGenome:MGI:5474852
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: Hbbt1; Hbbt2; Beta-s
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 s adult gene found in the "single" 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]
Expression: Biased expression in spleen adult (RPKM 26958.6), heart adult (RPKM 9861.0) and 2 other tissues See more
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Genomic context

Location:: 7 E3; 7

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	7	NC_000073.7 (103475730..103477135, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	7	NC_000073.6 (103826523..103827928, complement)

Chromosome 7 - NC_000073.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

ENU mutagenesis generated mouse lines with dominant beta-thalassemia mutations resembling those in the human disease: a nonsense mutation at codon 40 in exon 2 and a mutation at the polyadenylation signal of the beta-major gene.
Title: ENU mutagenesis identifies the first mouse mutants reproducing human β-thalassemia at the genomic level.

Submit: New GeneRIF Correction

Variation

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Alleles

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

Endonuclease-mediated (4)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH125862 (e-PCR)
- UniSTS:162599

AI747626 (e-PCR)
- UniSTS:208168

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

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

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

PMC21142P1 (e-PCR)
- UniSTS:272014

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

RH94473 (e-PCR)
- UniSTS:119721

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

Hbb (e-PCR), detects polymorphism
- UniSTS:143322

Hbb (e-PCR), detects polymorphism
- UniSTS:143323

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

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

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

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
contributes_to haptoglobin binding	ISO Inferred from Sequence Orthology 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
contributes_to oxygen binding	ISO Inferred from Sequence Orthology more info
enables oxygen binding	ISO Inferred from Sequence Orthology 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

Component	Evidence Code	Pubs
located_in extracellular space	ISO Inferred from Sequence Orthology more info
part_of haptoglobin-hemoglobin complex	ISO Inferred from Sequence Orthology more info
part_of hemoglobin complex	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: hemoglobin, beta adult s chain

Names: beta s; beta-globin; beta-single; hemoglobin subunit beta-1-like

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)

NM_001201391.1 → NP_001188320.1 hemoglobin, beta adult s chain

Status: VALIDATED

Source sequence(s)

AC131116

Consensus CDS

CCDS52339.1

UniProtKB/TrEMBL

A8DUK4, A8DUK7, A8DUL2, A8DUL7, A8DUN2, A8DUQ1

Related

ENSMUSP00000023934.7, ENSMUST00000023934.8

Conserved Domains (1) summary

cd08925
Location:7 → 146

Hb-beta_like; Hemoglobin beta, gamma, delta, epsilon, and related Hb subunits