Hbb-bh1 hemoglobin Z, beta-like embryonic chain [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Hbb-bh1provided by MGI
Official Full Name: hemoglobin Z, beta-like embryonic chainprovided by MGI
Primary source: MGI:MGI:96024
See related: Ensembl:ENSMUSG00000052217 AllianceGenome:MGI:96024
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: betaH1
Summary: Predicted to enable several functions, including heme binding activity; hemoglobin alpha binding activity; and oxygen binding activity. Predicted to contribute to haptoglobin binding activity and peroxidase activity. Acts upstream of or within negative regulation of transcription by RNA polymerase II. Predicted to be part of haptoglobin-hemoglobin complex and hemoglobin complex. Is expressed in several structures, including aorta-gonad-mesonephros; extraembryonic component; genitourinary system; hemolymphoid system; and tail bud. Human ortholog(s) of this gene implicated in delta beta-thalassemia and sickle cell anemia. Orthologous to human HBE1 (hemoglobin subunit epsilon 1); HBG1 (hemoglobin subunit gamma 1); and HBG2 (hemoglobin subunit gamma 2). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in placenta adult (RPKM 1662.1), CNS E11.5 (RPKM 649.0) and 1 other tissue See more
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Genomic context

Location:: 7 E3; 7 54.85 cM

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	7	NC_000073.7 (103490845..103492369, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	7	NC_000073.6 (103841638..103843162, 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?

we identify a developmentally specific erythroid enhancer, hypersensitive site-embryonic 1 (HS-E1), located within the embryonic beta-globin domain in mouse [beta-globin ]
Title: An embryonic stage-specific enhancer within the murine β-globin locus mediates domain-wide histone hyperacetylation.
promoter regions of betah1 and ey (embryonic beta-like globin genes) do not compete for interaction with beta-globin
Title: Promoters of the murine embryonic beta-like globin genes Ey and betah1 do not compete for interaction with the beta-globin locus control region.

Submit: New GeneRIF Correction

Variation

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Alleles

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

Endonuclease-mediated (2)
Targeted (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Hbb-bh1 (e-PCR), detects polymorphism
- UniSTS:256864

Hbb-bh1 (e-PCR), detects polymorphism
- UniSTS:468836

Hbb-bh1 (e-PCR), detects polymorphism
- UniSTS:547440

Hbb-bh1 (e-PCR), detects polymorphism
- UniSTS:525966

Hbb-bh1 (e-PCR), detects polymorphism
- UniSTS:516510

Hbb-bh1 (e-PCR), detects polymorphism
- UniSTS:516563

PMC21968P1 (e-PCR)
- UniSTS:272086

Hbb-bh1 (e-PCR), detects polymorphism
- UniSTS:259551

Hbb-bh1 (e-PCR), detects polymorphism
- UniSTS:143329

Hbb-bh1 (e-PCR), detects polymorphism
- UniSTS:516592

D7Mit38 (e-PCR), detects polymorphism
- UniSTS:116734

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
contributes_to haptoglobin binding	IBA Inferred from Biological aspect of Ancestor 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 heme binding	ISO Inferred from Sequence Orthology more info
enables hemoglobin alpha binding	IBA Inferred from Biological aspect of Ancestor more info
enables hemoglobin alpha binding	IEA Inferred from Electronic Annotation more info
enables hemoglobin alpha 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
enables oxygen carrier activity	IBA Inferred from Biological aspect of Ancestor more info
enables oxygen carrier activity	IEA Inferred from Electronic Annotation more info
enables oxygen carrier activity	ISO Inferred from Sequence Orthology more info
contributes_to peroxidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein-containing complex binding	IEA Inferred from Electronic Annotation 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
involved_in hydrogen peroxide catabolic process	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within negative regulation of transcription by RNA polymerase II	IGI Inferred from Genetic Interaction more info	PubMed
involved_in oxygen transport	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
part_of haptoglobin-hemoglobin complex	IBA Inferred from Biological aspect of Ancestor more info
part_of hemoglobin complex	IBA Inferred from Biological aspect of Ancestor more info
part_of hemoglobin complex	ISO Inferred from Sequence Orthology more info
part_of hemoglobin complex	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: hemoglobin subunit beta-H1

Names: beta Hl globin; beta-H1-globin; hemoglobin beta-H1 chain; minor beta-globin; protein Z

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.