Hemoglobin subunit beta information

HBB
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	6HBW, 1A00, 1A01, 1A0U, 1A0Z, 1A3N, 1A3O, 1ABW, 1ABY, 1AJ9, 1B86, 1BAB, 1BBB, 1BIJ, 1BUW, 1BZ0, 1BZ1, 1BZZ, 1C7B, 1C7C, 1C7D, 1CBL, 1CBM, 1CH4, 1CLS, 1CMY, 1COH, 1DKE, 1DXT, 1DXU, 1DXV, 1FN3, 1G9V, 1GBU, 1GBV, 1GLI, 1GZX, 1HAB, 1HAC, 1HBA, 1HBB, 1HBS, 1HCO, 1HDB, 1HGA, 1HGB, 1HGC, 1HHO, 1IRD, 1J3Y, 1J3Z, 1J40, 1J41, 1J7S, 1J7W, 1J7Y, 1JY7, 1K0Y, 1K1K, 1KD2, 1LFL, 1LFQ, 1LFT, 1LFV, 1LFY, 1LFZ, 1LJW, 1M9P, 1MKO, 1NEJ, 1NIH, 1NQP, 1O1I, 1O1J, 1O1K, 1O1L, 1O1M, 1O1N, 1O1O, 1O1P, 1QI8, 1QSH, 1QSI, 1QXD, 1QXE, 1R1X, 1R1Y, 1RPS, 1RQ3, 1RQ4, 1RQA, 1RVW, 1SDK, 1SDL, 1THB, 1UIW, 1VWT, 1XXT, 1XY0, 1XYE, 1XZ2, 1XZ4, 1XZ5, 1XZ7, 1XZU, 1XZV, 1Y09, 1Y0A, 1Y0C, 1Y0D, 1Y0T, 1Y0W, 1Y22, 1Y2Z, 1Y31, 1Y35, 1Y45, 1Y46, 1Y4B, 1Y4F, 1Y4G, 1Y4P, 1Y4Q, 1Y4R, 1Y4V, 1Y5F, 1Y5J, 1Y5K, 1Y7C, 1Y7D, 1Y7G, 1Y7Z, 1Y83, 1Y85, 1Y8W, 1YDZ, 1YE0, 1YE1, 1YE2, 1YEN, 1YEO, 1YEQ, 1YEU, 1YEV, 1YFF, 1YG5, 1YGD, 1YGF, 1YH9, 1YHE, 1YHR, 1YIE, 1YIH, 1YVQ, 1YVT, 1YZI, 2D5Z, 2D60, 2DN1, 2DN2, 2DN3, 2DXM, 2H35, 2HBC, 2HBD, 2HBE, 2HBF, 2HBS, 2HCO, 2HHD, 2HHE, 2M6Z, 2W6V, 2W72, 2YRS, 3B75, 3D17, 3D7O, 3DUT, 3HXN, 3IC0, 3IC2, 3KMF, 3NL7, 3NMM, 3ODQ, 3ONZ, 3OO4, 3OO5, 3P5Q, 3QJB, 3QJC, 3QJD, 3QJE, 3R5I, 3S65, 3S66, 3SZK, 3W4U, 3WCP, 3WHM, 4FC3, 4HHB, 4IJ2, 4L7Y, 4M4A, 4M4B, 4MQC, 4MQG, 4MQH, 4MQI, 4N7N, 4N7O, 4N7P, 4N8T, 4NI0, 4NI1, 4ROL, 4ROM, 4WJG, 4X0L, 4XS0, 5E29, 5E6E, 5EE4, 5HU6, 5JDO, 5KDQ, 5E83
Identifiers
Aliases	HBB, CD113t-C, beta-globin, hemoglobin subunit beta, ECYT6
External IDs	OMIM: 141900 MGI: 5474850 HomoloGene: 68066 GeneCards: HBB
Gene location (Human)
Chr.	Chromosome 11 (human)
End	5,229,395 bp
Gene location (Mouse)
Chr.	Chromosome 7 (mouse)
End	103,463,203 bp
RNA expression pattern
	Top expressed in
	trabecular bone; ; vena cava; ; periodontal fiber; ; monocyte; ; bone marrow; ; triceps brachii muscle; ; bone marrow cells; ; blood; ; bronchial epithelial cell; ; spleen;
	Top expressed in
	bone marrow; ; spleen; ; neural tube; ; heart; ; lung; ; ganglionic eminence; ; mesencephalon; ; esophagus; ; zone of skin; ; quadriceps femoris muscle;
	More reference expression data
	n/a
Gene ontology
Molecular function	iron ion binding; oxygen binding; oxygen carrier activity; peroxidase activity; metal ion binding; hemoglobin binding; protein binding; heme binding; haptoglobin binding;
Cellular component	cytosol; endocytic vesicle lumen; blood microparticle; extracellular region; hemoglobin complex; extracellular exosome; haptoglobin-hemoglobin complex; tertiary granule lumen; ficolin-1-rich granule lumen; extracellular space;
Biological process	positive regulation of cell death; protein heterooligomerization; nitric oxide transport; positive regulation of nitric oxide biosynthetic process; oxygen transport; blood coagulation; receptor-mediated endocytosis; regulation of blood pressure; bicarbonate transport; hydrogen peroxide catabolic process; platelet aggregation; response to hydrogen peroxide; renal absorption; cellular oxidant detoxification; neutrophil degranulation; transport;
	Sources:Amigo / QuickGO
Orthologs
	3043
	101488143
	ENSG00000244734
	ENSMUSG00000073940
	P68871
	P02088
	NM_000518
	NM_008220
	NP_000509
	NP_032246; NP_001188320; NP_001265090
	Wikidata
View/Edit Human	View/Edit Mouse

Hemoglobin subunit beta (beta globin, β-globin, haemoglobin beta, hemoglobin beta) is a globin protein, coded for by the HBB gene, which along with alpha globin (HBA), makes up the most common form of haemoglobin in adult humans, hemoglobin A (HbA).^[5] It is 147 amino acids long and has a molecular weight of 15,867 Da. Normal adult human HbA is a heterotetramer consisting of two alpha chains and two beta chains.

HBB is encoded by the HBB gene on human chromosome 11. Mutations in the gene produce several variants of the proteins which are implicated with genetic disorders such as sickle-cell disease and beta thalassemia, as well as beneficial traits such as genetic resistance to malaria.^[6]^[7] At least 50 disease-causing mutations in this gene have been discovered.^[8]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000244734 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000073940 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Entrez Gene: HBB hemoglobin, beta".
^ Sabeti PC (2008). "Natural selection: uncovering mechanisms of evolutionary adaptation to infectious disease". Nature Education. 1 (1): 13.
^ Kwiatkowski DP (2005). "How malaria has affected the human genome and what human genetics can teach us about malaria". The American Journal of Human Genetics. 77 (2): 171–192. doi:10.1086/432519. PMC 1224522. PMID 16001361.
^ Šimčíková D, Heneberg P (December 2019). "Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases". Scientific Reports. 9 (1): 18577. Bibcode:2019NatSR...918577S. doi:10.1038/s41598-019-54976-4. PMC 6901466. PMID 31819097.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000244734 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000073940 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-5] "Entrez Gene: HBB hemoglobin, beta".

[sabeti-6] Sabeti PC (2008). "Natural selection: uncovering mechanisms of evolutionary adaptation to infectious disease". Nature Education. 1 (1): 13.

[kwiat-7] Kwiatkowski DP (2005). "How malaria has affected the human genome and what human genetics can teach us about malaria". The American Journal of Human Genetics. 77 (2): 171–192. doi:10.1086/432519. PMC 1224522. PMID 16001361.

[Šimčíková_2019_-_supplementary_table_S7-8] Šimčíková D, Heneberg P (December 2019). "Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases". Scientific Reports. 9 (1): 18577. Bibcode:2019NatSR...918577S. doi:10.1038/s41598-019-54976-4. PMC 6901466. PMID 31819097.

Hemoglobin subunit beta information

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