Hba-a1 hemoglobin alpha, adult chain 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Hba-a1provided by MGI
Official Full Name: hemoglobin alpha, adult chain 1provided by MGI
Primary source: MGI:MGI:96015
See related: Ensembl:ENSMUSG00000069919 AllianceGenome:MGI:96015
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: Hba; Hba1; Hbat1
Summary: Predicted to enable several functions, including heme binding activity; oxygen binding activity; and oxygen carrier activity. Predicted to contribute to haptoglobin binding activity and peroxidase activity. Acts upstream of or within several processes, including erythrocyte development; in utero embryonic development; and response to stilbenoid. Located in myelin sheath. Is expressed in several structures, including blood vessel; early conceptus; hematopoietic system; liver; and visceral pericardium. Human ortholog(s) of this gene implicated in Heinz body anemia; alpha thalassemia; familial erythrocytosis 7; and hemoglobin H disease. Orthologous to human HBA2 (hemoglobin subunit alpha 2). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in spleen adult (RPKM 54307.5), heart adult (RPKM 17770.4) and 4 other tissues See more
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Genomic context

Location:: 11 A4; 11 18.86 cM

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	11	NC_000077.7 (32233672..32234486)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	11	NC_000077.6 (32283672..32284486)

Chromosome 11 - NC_000077.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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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?

Endothelial alpha globin is a nitrite reductase.
Title: Endothelial alpha globin is a nitrite reductase.
Enhancers predominantly regulate gene expression during differentiation via transcription initiation.
Title: Enhancers predominantly regulate gene expression during differentiation via transcription initiation.
identify a novel sequence on Hb alpha that is important for Hb alpha/eNOS complex formation and is critical for nitric oxide signaling at myoendothelial junctions
Title: Hemoglobin α/eNOS coupling at myoendothelial junctions is required for nitric oxide scavenging during vasoconstriction.
Because haemoglobin regulates O2 and/or nitric oxide availability, it may contribute to regulation of these gases during the ovulatory period in vivo.
Title: Microarray analysis of mRNA from cumulus cells following in vivo or in vitro maturation of mouse cumulus-oocyte complexes.
The human locus establishes prominent sites of Polycomb complex recruitment in pluripotent stem cells, whereas the corresponding mouse locus does not.
Title: An interspecies analysis reveals a key role for unmethylated CpG dinucleotides in vertebrate Polycomb complex recruitment.
These data suggest that CP2b potentiate erythroid cell-specific alpha-globin expression by recruiting CP2c into the nucleus.
Title: The relative cellular levels of CP2a and CP2b potentiates erythroid cell-specific expression of the alpha-globin gene by regulating the nuclear localization of CP2c.
It is suggested that the higher expression of hemoglobin alpha1 in the brain may be associated with ECM and could be a source of excess heme, a molecule that is considered to trigger the pathogenesis of cerebral malaria.
Title: Host biomarkers and biological pathways that are associated with the expression of experimental cerebral malaria in mice.
The objective of this study was to test whether amino acid differences among triplicated alpha-globin paralogs are attributable to a relaxation of purifying selection or to a history of positive selection.
Title: Adaptive functional divergence among triplicated alpha-globin genes in rodents.
Allosteric effects of chloride ions at the interfaces between the alphabeta dimers.
Title: Allosteric effects of chloride ions at the intradimeric alpha1beta1 and alpha2beta2 interfaces of human hemoglobin.

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Variation

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Alleles

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

Targeted (4) 1 citation
Endonuclease-mediated (4) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Hba-a1 (e-PCR), detects polymorphism
- UniSTS:470555

Hba-a1 (e-PCR), detects polymorphism
- UniSTS:525964

Hba-a1 (e-PCR), detects polymorphism
- UniSTS:516521

Hba-a1 (e-PCR), detects polymorphism
- UniSTS:143317

Hba-a1 (e-PCR), detects polymorphism
- UniSTS:143318

UniSTS:465391 (e-PCR)
- UniSTS:465391

Hba-a1 (e-PCR), detects polymorphism
- UniSTS:465391

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables G protein-coupled receptor binding	ISO Inferred from Sequence Orthology more info
enables amyloid-beta binding	ISO Inferred from Sequence Orthology more info
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	ISO Inferred from Sequence Orthology more info
enables organic acid binding	IBA Inferred from Biological aspect of Ancestor more info
enables organic acid binding	ISO Inferred from Sequence Orthology more info
enables oxygen binding	IBA Inferred from Biological aspect of Ancestor more info
contributes_to oxygen binding	ISO Inferred from Sequence Orthology more info
enables oxygen carrier activity	IBA Inferred from Biological aspect of Ancestor more info
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
involved_in hydrogen peroxide catabolic process	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within in utero embryonic development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within response to bacterium	IEP Inferred from Expression Pattern more info	PubMed
involved_in response to stilbenoid	IEP Inferred from Expression Pattern 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	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 alpha

Names: alpha 1 globin; alpha globin 1; alpha-globin; haemaglobin alpha 1; hemoglobin alpha chain

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.