Hemoglobin subunit beta

NameHemoglobin subunit beta
Synonyms
  • Beta-globin
  • Hemoglobin beta chain
Gene NameHBB
OrganismHuman
Amino acid sequence
>lcl|BSEQ0010439|Hemoglobin subunit beta
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPK
VKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFG
KEFTPPVQAAYQKVVAGVANALAHKYH
Number of residues147
Molecular Weight15998.34
Theoretical pI7.32
GO Classification
Functions
  • iron ion binding
  • heme binding
  • oxygen binding
  • oxygen transporter activity
  • hemoglobin binding
Processes
  • positive regulation of cell death
  • protein heterooligomerization
  • blood coagulation
  • bicarbonate transport
  • regulation of blood pressure
  • oxygen transport
  • hydrogen peroxide catabolic process
  • regulation of blood vessel size
  • small molecule metabolic process
  • nitric oxide transport
  • positive regulation of nitric oxide biosynthetic process
  • receptor-mediated endocytosis
  • renal absorption
  • response to hydrogen peroxide
  • oxidation-reduction process
  • platelet aggregation
Components
  • extracellular region
  • endocytic vesicle lumen
  • haptoglobin-hemoglobin complex
  • hemoglobin complex
  • cytosol
  • extracellular exosome
  • blood microparticle
General FunctionOxygen transporter activity
Specific FunctionInvolved in oxygen transport from the lung to the various peripheral tissues.LVV-hemorphin-7 potentiates the activity of bradykinin, causing a decrease in blood pressure.Spinorphin: functions as an endogenous inhibitor of enkephalin-degrading enzymes such as DPP3, and as a selective antagonist of the P2RX3 receptor which is involved in pain signaling, these properties implicate it as a regulator of pain and inflammation.
Pfam Domain Function
Transmembrane RegionsNot Available
GenBank Protein ID455997
UniProtKB IDP68871
UniProtKB Entry NameHBB_HUMAN
Cellular LocationNot Available
Gene sequence
>lcl|BSEQ0010440|Hemoglobin subunit beta (HBB)
ATGGTGCATCTGACTCCTGAGGAGAAGTCTGCCGTTACTGCCCTGTGGGGCAAGGTGAAC
GTGGATGAAGTTGGTGGTGAGGCCCTGGGCAGGCTGCTGGTGGTCTACCCTTGGACCCAG
AGGTTCTTTGAGTCCTTTGGGGATCTGTCCACTCCTGATGCTGTTATGGGCAACCCTAAG
GTGAAGGCTCATGGCAAGAAAGTGCTCGGTGCCTTTAGTGATGGCCTGGCTCACCTGGAC
AACCTCAAGGGCACCTTTGCCACACTGAGTGAGCTGCACTGTGACAAGCTGCACGTGGAT
CCTGAGAACTTCAGGCTCCTGGGCAACGTGCTGGTCTGTGTGCTGGCCCATCACTTTGGC
AAAGAATTCACCCCACCAGTGCAGGCTGCCTATCAGAAAGTGGTGGCTGGTGTGGCTAAT
GCCCTGGCCCACAAGTATCACTAA
GenBank Gene IDU01317
GeneCard IDNot Available
GenAtlas IDHBB
HGNC IDHGNC:4827
Chromosome Location11
Locus11p15.5
References
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  66. Wajcman H, Blouquit Y, Vasseur C, Le Querrec A, Laniece M, Melevendi C, Rasore A, Galacteros F: Two new human hemoglobin variants caused by unusual mutational events: Hb Zaire contains a five residue repetition within the alpha-chain and Hb Duino has two residues substituted in the beta-chain. Hum Genet. 1992 Aug;89(6):676-80. 1511986
  67. Murru S, Poddie D, Sciarratta GV, Agosti S, Baffico M, Melevendi C, Pirastu M, Cao A: A novel beta-globin structural mutant, Hb Brescia (beta 114 Leu-Pro), causing a severe beta-thalassemia intermedia phenotype. Hum Mutat. 1992;1(2):124-8. 1301199
  68. de Castro CM, Devlin B, Fleenor DE, Lee ME, Kaufman RE: A novel beta-globin mutation, beta Durham-NC [beta 114 Leu-->Pro], produces a dominant thalassemia-like phenotype. Blood. 1994 Feb 15;83(4):1109-16. 8111050
  69. Kiger L, Kister J, Groff P, Kalmes G, Prome D, Galacteros F, Wajcman H: Hb J-Europa [beta 62(E6)Ala-->Asp]: normal oxygen binding properties in a new variant involving a residue located distal to the heme. Hemoglobin. 1996 May;20(2):135-40. 8811317
  70. Como PF, Hocking DR, Swinton GW, Trent RJ, Holland RA, Tibben EA, Wilkinson T, Kronenberg H: Hb Geelong [beta 139(H17)Asn----Asp]. Hemoglobin. 1991;15(1-2):85-95. 1917539
  71. Baklouti F, Giraud Y, Francina A, Richard G, Perier C, Geyssant A, Jaubert J, Brizard C, Delaunay J: Hemoglobin Grange-Blanche [beta 27(B9) Ala----Val], a new variant with normal expression and increased affinity for oxygen. FEBS Lett. 1987 Oct 19;223(1):59-62. 3666141
  72. Liu JS, Molchanova TP, Gu LH, Wilson JB, Hopmeier P, Schnedl W, Balaun E, Krejs GJ, Huisman TH: Hb Graz or alpha 2 beta 2(2)(NA2)His-->Leu; a new beta chain variant observed in four families from southern Austria. Hemoglobin. 1992;16(6):493-501. 1487420
  73. Ikkala E, Koskela J, Pikkarainen P, Rahiala EL, El-Hazmi MA, Nagai K, Lang A, Lehmann H: Hb Helsinki: a variant with a high oxygen affinity and a substitution at a 2,3-DPG binding site (beta82[EF6] Lys replaced by Met). Acta Haematol. 1976;56(5):257-75. 826083
  74. Ohba Y, Miyaji T, Murakami M, Kadowaki S, Fujita T, Oimomi M, Hatanaka H, Ishikawa K, Baba S, Hitaka K, et al.: Hb Himeji or beta 140 (H18) Ala----Asp. A slightly unstable hemoglobin with increased beta N-terminal glycation. Hemoglobin. 1986;10(2):109-25. 3754244
  75. Moo-Penn WF, Johnson MH, Jue DL, Lonser R: Hb Hinsdale [beta 139 (H17)Asn----Lys]: a variant in the central cavity showing reduced affinity for oxygen and 2,3-diphosphoglycerate. Hemoglobin. 1989;13(5):455-64. 2513289
  76. Frischknecht H, Ventruto M, Hess D, Hunziker P, Rosatelli MC, Cao A, Breitenstein U, Fehr J, Tuchschmid P: HB Hinwil or beta 38(C4)Thr-->Asn: a new beta chain variant detected in a Swiss family. Hemoglobin. 1996 Feb;20(1):31-40. 8745430
  77. Owen MC, Ockelford PA, Wells RM: Hb Howick [beta 37(C3)Trp-->Gly]: a new high oxygen affinity variant of the alpha 1 beta 2 contact. Hemoglobin. 1993 Dec;17(6):513-21. 8144352
  78. Adams JG, Steinberg MH, Boxer LA, Baehner RL, Forget BG, Tsistrakis GA: The structure of hemoglobin Indianapolis [beta112(G14) arginine]. An unstable variant detectable only by isotopic labeling. J Biol Chem. 1979 May 10;254(9):3479-82. 429365
  79. Harano T, Harano K, Kushida Y, Ueda S, Yoshii A, Nishinarita M: Hb Isehara (or Hb Redondo) [beta 92 (F8) His----Asn]: an unstable variant with a proximal histidine substitution at the heme contact. Hemoglobin. 1991;15(4):279-90. 1787097
  80. Aksoy M, Erdem S, Efremov GD, Wilson JB, Huisman TH, Schroeder WA, Shelton JR, Shelton JB, Ulitin ON, Muftuoglu A: Hemoglobin Istanbul: substitution of glutamine for histidine in a proximal histidine (F8(92) ). J Clin Invest. 1972 Sep;51(9):2380-7. 4639022
  81. Gaudry CL Jr, Pitel PA, Jue DL, Hine TK, Johnson MH, Moo-Penn WF: Hb Jacksonville [alpha 2 beta 2(54)(D5)Val----Asp]: a new unstable variant found in a patient with hemolytic anemia. Hemoglobin. 1990;14(6):653-9. 2101840
  82. Lu YQ, Fan JL, Liu JF, Hu HL, Peng XH, Huang CH, Huang PY, Chen SS, Jai PC, Yang KG, et al.: Hemoglobin Jianghua [beta 120(GH3) LYS leads to ILE]: a new fast-moving variant found in China. Hemoglobin. 1983;7(4):321-6. 6618888
  83. Landin B: Hb Karlskoga or alpha 2 beta (2)21(B3) Asp-->His: a new slow-moving variant found in Sweden. Hemoglobin. 1993 Jun;17(3):201-8. 8330972
  84. Arous N, Galacteros F, Fessas P, Loukopoulos D, Blouquit Y, Komis G, Sellaye M, Boussiou M, Rosa J: Structural study of hemoglobin Knossos, beta 27 (B9) Ala leads to Ser. A new abnormal hemoglobin present as a silent beta-thalassemia. FEBS Lett. 1982 Oct 18;147(2):247-50. 7173395
  85. Harano T, Harano K, Kushida Y, Imai K, Nishinakamura R, Matsunaga T: Hb Kodaira [beta 146(HC3)His----Gln]: a new beta chain variant with an amino acid substitution at the C-terminus. Hemoglobin. 1992;16(1-2):85-91. 1634367
  86. Harano T, Harano K, Ueda S, Imai N, Kitazumi T: A new electrophoretically-silent hemoglobin variant: hemoglobin Kofu or alpha 2 beta 2 84 (EF8) Thr----Ile. Hemoglobin. 1986;10(4):417-20. 3744871
  87. Divoky V, Svobodova M, Indrak K, Chrobak L, Molchanova TP, Huisman TH: Hb Hradec Kralove (Hb HK) or alpha 2 beta 2 115(G17)Ala-->Asp, a severely unstable hemoglobin variant resulting in a dominant beta-thalassemia trait in a Czech family. Hemoglobin. 1993 Aug;17(4):319-28. 7693620
  88. Merault G, Keclard L, Garin J, Poyart C, Blouquit Y, Arous N, Galacteros F, Feingold J, Rosa J: Hemoglobin La Desirade alpha A2 beta 2 129 (H7) Ala----Val: a new unstable hemoglobin. Hemoglobin. 1986;10(6):593-605. 3557994
  89. Wajcman H, Kister J, Vasseur C, Blouquit Y, Trastour JC, Cottenceau D, Galacteros F: Structure of the EF corner favors deamidation of asparaginyl residues in hemoglobin: the example of Hb La Roche-sur-Yon [beta 81 (EF5) Leu----His]. Biochim Biophys Acta. 1992 Feb 14;1138(2):127-32. 1540659
  90. Malcorra-Azpiazu JJ, Balda-Aguirre MI, Diaz-Chico JC, Hu H, Wilson JB, Webber BB, Kutlar F, Kutlar A, Huisman TH: Hb Las Palmas or alpha 2 beta 2(49)(CD8)Ser----Phe, a mildly unstable hemoglobin variant. Hemoglobin. 1988;12(2):163-70. 3384708
  91. Berlin G, Wranne B, Jeppsson JO: Hb Linkoping (beta 36 Pro----Thr): a new high oxygen affinity hemoglobin variant found in two families of Finnish origin. Eur J Haematol. 1987 Nov;39(5):452-6. 3691763
  92. Marinucci M, Boissel JP, Massa A, Wajcman H, Tentori L, Labie D: Hemoglobin Maputo: a new beta-chain variant (alpha 2 beta 2 47 (CD6) Asp replaced by Tyr) in combination with hemoglobin S, identified by high performance liquid chromatography (HPLC). Hemoglobin. 1983;7(5):423-33. 6629824
  93. Sciarratta GV, Ivaldi G: Hb Matera [beta 55(D6)Met----Lys]: a new unstable hemoglobin variant in an Italian family. Hemoglobin. 1990;14(1):79-85. 2384314
  94. Nakatsuji T, Miwa S, Ohba Y, Hattori Y, Miyaji T, Miyata H, Shinohara T, Hori T, Takayama J: Hemoglobin Miyashiro (beta 23[B5] val substituting for gly) an electrophoretically silent variant discovered by the isopropanol test. Hemoglobin. 1981;5(7-8):653-66. 7338468
  95. Ohba Y, Miyaji T, Matsuoka M, Sugiyama K, Suzuki T, Sugiura T: Hemoglobin Mizuho or beta 68 (E 12) leucine leads to proline, a new unstable variant associated with severe hemolytic anemia. Hemoglobin. 1977;1(5):467-77. 893142
  96. Ramachandran M, Gu LH, Wilson JB, Kitundu MN, Adekile AD, Liu JC, McKie KM, Huisman TH: A new variant, HB Muscat [alpha 2 beta (2)32(B14)Leu----Val] observed in association with HB S in an Arabian family. Hemoglobin. 1992;16(4):259-66. 1517102
  97. Lena-Russo D, Orsini A, Vovan L, Bardakdjian-Michau J, Lacombe C, Blouquit Y, Craescu CT, Galacteros F: Hb N-Timone [alpha 2 beta 2(8)(A5)Lys----Glu]: a new fast-moving variant with normal stability and oxygen affinity. Hemoglobin. 1989;13(7-8):743-7. 2634671
  98. Ohba Y, Imanaka M, Matsuoka M, Hattori Y, Miyaji T, Funaki C, Shibata K, Shimokata H, Kuzuya F, Miwa S: A new unstable, high oxygen affinity hemoglobin: Hb Nagoya or beta 97 (FG4) His----Pro. Hemoglobin. 1985;9(1):11-24. 3838976
  99. Welch SG, Bateman C: Hb D-Neath or beta 121 (GH4) Glu-->Ala: a new member of the Hb D family. Hemoglobin. 1993 Jun;17(3):255-9. 8330979
  100. Rahbar S, Louis J, Lee T, Asmerom Y: Hemoglobin North Chicago (beta 36 [C2] proline----serine): a new high affinity hemoglobin. Hemoglobin. 1985;9(6):559-76. 3937824
  101. Arends T, Lehmann H, Plowman D, Stathopoulou R: Haemoglobin North Shore-Caracas beta 134 (H12) valine replaced by glutamic acid. FEBS Lett. 1977 Aug 15;80(2):261-5. 891976
  102. Indrak K, Wiedermann BF, Batek F, Wilson JB, Webber BB, Kutlar A, Huisman TH: Hb Olomouc or alpha 2 beta 2(86)(F2)Ala----Asp, a new high oxygen affinity variant. Hemoglobin. 1987;11(2):151-5. 3623975
  103. Brennan SO, Williamson D, Whisson ME, Carrell RW: Hemoglobin Palmerston North beta 23 (B5) Val replaced by Phe. A new variant identified in a patient with polycythemia. Hemoglobin. 1982;6(6):569-75. 7161106
  104. Baklouti F, Giraud Y, Francina A, Richard G, Favre-Gilly J, Delaunay J: Hemoglobin Pierre-Benite [beta 90(F6)Glu----Asp], a new high affinity variant found in a French family. Hemoglobin. 1988;12(2):171-7. 3384709
  105. Moo-Penn WF, Wolff JA, Simon G, Vacek M, Jue DL, Johnson MH: Hemoglobin Presbyterian: beta108 (G10) asparagine leads to lysine, A hemoglobin variant with low oxygen affinity. FEBS Lett. 1978 Aug 1;92(1):53-6. 668922
  106. Wajcman H, Girodon E, Prome D, North ML, Plassa F, Duwig I, Kister J, Bergerat JP, Oberling F, Lampert E, et al.: Germline mosaicism for an alanine to valine substitution at residue beta 140 in hemoglobin Puttelange, a new variant with high oxygen affinity. Hum Genet. 1995 Dec;96(6):711-6. 8522332
  107. Jen PC, Chen LC, Chen PF, Wong Y, Chen LF, Guo YY, Chang FQ, Chow YC, Chiu Y: Hemoglobin Quin-Hai, beta 78 (EF2) Leu replaced by Arg, a new abnormal hemoglobin found in Guangdong, China. Hemoglobin. 1983;7(5):407-12. 6629822
  108. Bisse E, Zorn N, Eigel A, Lizama M, Huaman-Guillen P, Marz W, Van Dorsselaer A, Wieland H: Hemoglobin Rambam (beta69[E13]Gly-->Asp), a pitfall in the assessment of diabetic control: characterization by electrospray mass spectrometry and HPLC. Clin Chem. 1998 Oct;44(10):2172-7. 9761252
  109. Gilbert AT, Fleming PJ, Sumner DR, Hughes WG, Ip F, Kwan YL, Holland RA: Hemoglobin Randwick or beta 15 (A12)Trp----Gly: a new unstable beta-chain hemoglobin variant. Hemoglobin. 1988;12(2):149-61. 3384707
  110. Moo-Penn WF, Johnson MH, McGuffey JE, Jue DL, Therrell BL Jr: Hemoglobin Rio Grande [beta 8 (A5) Lys leads to Thr] a new variant found in a Mexican-American family. Hemoglobin. 1983;7(1):91-5. 6857757
  111. Adams JG 3rd, Winter WP, Tausk K, Heller P: Hemoglobin Rush (beta 101 (g3) glutamine): a new unstable hemoglobin causing mild hemolytic anemia. Blood. 1974 Feb;43(2):261-9. 4129558
  112. Ohba Y, Hasegawa Y, Amino H, Miwa S, Nakatsuji T, Hattori Y, Miyaji T: Hemoglobin saitama or beta 117 (G19) His leads to Pro, a new variant causing hemolytic disease. Hemoglobin. 1983;7(1):47-56. 6687721
  113. GERALD PS, EFRON ML: Chemical studies of several varieties of Hb M. Proc Natl Acad Sci U S A. 1961 Nov 15;47:1758-67. 13897827
  114. Moo-Penn WF, Johnson MH, McGuffey JE, Jue DL: Hemoglobin Shelby [beta 131(H9) Gln----Lys] a correction to the structure of hemoglobin Deaconess and hemoglobin Leslie. Hemoglobin. 1984;8(6):583-93. 6526653
  115. Ricco G, Pich PG, Mazza U, Rossi G, Ajmar F, Arese P, Gallo E: Hb J Sicilia: beta 65 (E9) Lys-Asn, a beta homologue of Hb Zambia. FEBS Lett. 1974 Feb 15;39(2):200-4. 4852224
  116. Como PF, Wylie BR, Trent RJ, Bruce D, Volpato F, Wilkinson T, Kronenberg H, Holland RA, Tibben EA: A new unstable and low oxygen affinity hemoglobin variant: Hb Stanmore [beta 111(G13)Val----Ala]. Hemoglobin. 1991;15(1-2):53-65. 1917537
  117. Arous N, Braconnier F, Thillet J, Blouquit Y, Galacteros F, Chevrier M, Bordahandy C, Rosa J: Hemoglobin Saint Mande beta 102 (G4) asn replaced by tyr: a new low oxygen affinity variant. FEBS Lett. 1981 Apr 6;126(1):114-6. 7238856
  118. Gilbert AT, Fleming PJ, Sumner DR, Hughes WG, Holland RA, Tibben EA: Hemoglobin Windsor or beta 11 (A8)Val----Asp: a new unstable beta-chain hemoglobin variant producing a hemolytic anemia. Hemoglobin. 1989;13(5):437-53. 2599880
  119. Harano T, Harano K, Kushida Y, Ueda S: A new abnormal variant, Hb Yahata or beta 112(G14)Cys----Tyr, found in a Japanese: structural confirmation by DNA sequencing of the beta-globin gene. Hemoglobin. 1991;15(1-2):109-13. 1917530
  120. Nakatsuji T, Miwa S, Ohba Y, Hattori Y, Miyaji T, Hino S, Matsumoto N: A new unstable hemoglobin, Hb Yokohama beta 31 (B13)Leu substituting for Pro, causing hemolytic anemia. Hemoglobin. 1981;5(7-8):667-78. 7338469
  121. Rahbar S, Feagler RJ, Beutler E: Hemoglobin Hammersmith (beta 42 (CD1) Phe replaced by Ser) associated with severe hemolytic anemia. Hemoglobin. 1981;5(1):97-105. 6259091
  122. Blouquit Y, Bardakdjian J, Lena-Russo D, Arous N, Perrimond H, Orsini A, Rosa J, Galacteros F: Hb Bruxelles: alpha 2A beta (2)41 or 42(C7 or CD1)Phe deleted. Hemoglobin. 1989;13(5):465-74. 2599881
  123. Plaseska D, Wilson JB, Gu LH, Kutlar F, Huisman TH, Zeng YT, Shen M: Hb Zengcheng or alpha 2 beta(2)114(G16)Leu----Met. Hemoglobin. 1990;14(5):555-7. 2079435
  124. Fay KC, Brennan SO, Costello JM, Potter HC, Williamson DA, Trent RJ, Ockelford PA, Boswell DR: Haemoglobin Manukau beta 67[E11] Val-->Gly: transfusion-dependent haemolytic anaemia ameliorated by coexisting alpha thalassaemia. Br J Haematol. 1993 Oct;85(2):352-5. 8280608
  125. Rees DC, Rochette J, Schofield C, Green B, Morris M, Parker NE, Sasaki H, Tanaka A, Ohba Y, Clegg JB: A novel silent posttranslational mechanism converts methionine to aspartate in hemoglobin Bristol (beta 67[E11] Val-Met->Asp). Blood. 1996 Jul 1;88(1):341-8. 8704193
  126. Deutsch S, Darbellay R, Offord R, Frutiger A, Kister J, Wajcman H, Beris P: Hb Iraq-Halabja beta10 (A7) Ala-->Val (GCC-->GTC): a new beta-chain silent variant in a family with multiple Hb disorders. Am J Hematol. 1999 Jul;61(3):187-93. 10398311
  127. Carbone V, Salzano AM, Pagano L, Buffardi S, De Rosa C, Pucci P: Identification of Hb Villejuif [beta123(H1)Thr-->Ile] in Southern Italy. Hemoglobin. 2001 Feb;25(1):67-78. 11300351
  128. North ML, Duwig I, Riou J, Prome D, Yapo AP, Kister J, Bardakdjian-Michau J, Cazenave JP, Wajcman H: Hb Tsukumi [beta117(G19)His-->Tyr] found in a Moroccan woman. Hemoglobin. 2001 Feb;25(1):107-10. 11300344
  129. Brennan SO, Potter HC, Kubala LM, Carnoutsos SA, Ferguson MM: Hb Canterbury [beta112(G14)Cys-->Phe]: a new, mildly unstable variant. Hemoglobin. 2002 Feb;26(1):67-9. 11939514
  130. Sawangareetrakul P, Svasti S, Yodsowon B, Winichagoon P, Srisomsap C, Svasti J, Fucharoen S: Double heterozygosity for Hb Pyrgos [beta83(EF7)Gly-->Asp] and Hb E [beta26(B8)Glu-->Lys] found in association with alpha-thalassemia. Hemoglobin. 2002 May;26(2):191-6. 12144064
  131. Villegas A, Ropero P, Nogales A, Gonzalez FA, Mateo M, Mazo E, Rodrigo E, Arias M: Hb Santander [beta34(B16)Val --> Asp (GTC --> GAC)]: a new unstable variant found as a de novo mutation in a Spanish patient. Hemoglobin. 2003 Feb;27(1):31-5. 12603091
  132. Wajcman H, Bardakdjian-Michau J, Riou J, Prehu C, Kister J, Baudin-Creuza V, Prome D, Richelme-David S, Harousseau JL, Galacteros F: Two new hemoglobin variants with increased oxygen affinity: Hb Nantes [beta34(B16)Val-->Leu] and Hb Vexin [beta116(G18)His-->Leu]. Hemoglobin. 2003 Aug;27(3):191-9. 12908805
  133. Flatz G, Sanguansermsri T, Sengchanh S, Horst D, Horst J: The 'hot-spot' of Hb E [beta26(B8)Glu-->Lys] in Southeast Asia: beta-globin anomalies in the Lao Theung population of southern Laos. Hemoglobin. 2004 Aug;28(3):197-204. 15481886