Hemoglobina, alfa 1

Hemoglobina. alfa 1
Estruturas dispoñibles
PDB	Buscar ortólogos: PDBe, RCSB Lista de códigos PDB 1A00 , 1A01, 1A0U, 1A0Z, 1A3N, 1A3O, 1A9W, 1ABW, 1ABY, 1AJ9, 1B86, 1BAB, 1BBB, 1BIJ, 1BUW, 1BZ0, 1BZ1, 1BZZ, 1C7B, 1C7C, 1C7D, 1CLS, 1CMY, 1COH, 1DKE, 1DXT, 1DXU, 1DXV, 1FDH, 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, 1SHR, 1SI4, 1THB, 1UIW, 1VWT, 1XXT, 1XY0, 1XYE, 1XZ2, 1XZ4, 1XZ5, 1XZ7, 1XZU, 1XZV, 1Y01, 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, 1Z8U, 2D5Z, 2D60, 2DN1, 2DN2, 2DN3, 2DXM, 2H35, 2HBC, 2HBD, 2HBE, 2HBF, 2HBS, 2HCO, 2HHD, 2HHE, 2M6Z, 2W6V, 2W72, 2YRS, 3B75, 3D17, 3D7O, 3DUT, 3HXN, 3IA3, 3IC0, 3IC2, 3KMF, 3NL7, 3NMM, 3ODQ, 3ONZ, 3OO4, 3OO5, 3OVU, 3P5Q, 3QJB, 3QJC, 3QJD, 3QJE, 3R5I, 3S48, 3S65, 3S66, 3SZK, 3WCP, 3WHM, 4FC3, 4HHB, 4IJ2, 4L7Y, 4M4A, 4M4B, 4MQC, 4MQG, 4MQH, 4MQI, 4MQJ, 4MQK, 4N7N, 4N7O, 4N7P, 4N8T, 4NI0, 4NI1, 4ROL, 4ROM, 4WJG, 4X0L, 4XS0, 6HBW, 5E29, 5E6E, 5EE4, 5HU6, 5JDO, 5KDQ, 5E83,%%s1Y01, 1Z8U, 1BZ1 ;
Identificadores
Nomenclatura	Outros nomes HBA1, HBA-T3, HBH, subunidade alfa 1 da hemoglobina, METHBA, ECYT7 ;
Símbolos	HBA1 (HGNC: 4823) HBA1, HBA-T3, HBH, subunidade alfa 1 da hemoglobina, METHBA, ECYT7
Identificadores; externos	OMIM: 141800 ; MGI: 96015 ; HomoloGene: 469 ; EBI: HBA1; GeneCards: Xene HBA1; UniProt: HBA1;
Locus	Cr. 16 p13.3
Ontoloxía Xénica	Referencias: AmiGO / QuickGO
	Referencias: AmiGO / QuickGO
Ortólogos
Especies
Humano	Rato
Entrez
3039	15122
Ensembl
Véxase HS	Véxase MM
UniProt
P69905	Q91VB8
RefSeq; (ARNm)
NM_000558	NM_008218
RefSeq; (proteína) NCBI
NP_000508	NP_001077424
Localización (UCSC)
Cr. 16:; 0.18 – 0.18 Mb	Cr. 11:; 32.23 – 32.23 Mb
PubMed (Busca)
3039 ;	15122

Hemoglobina, alfa 1^[1] ou HBA1 é un xene situado no cromosoma 16 humano que codifica a subunidade alfa 1 da hemoglobina.^[2]

Xene

O cluster de xenes da globina alfa humana localizado no cromosoma 16 abrangue unhas 30 kb e inclúe sete loci: 5'- zeta - pseudozeta - mu - pseudoalfa-1 - alfa-2 - alfa-1 - teta - 3'. O alfa-2 (HBA2) e o alfa-1 (HBA1; o xene deste artigo) teñen secuencias codificantes idénticas. Estes xenes diferéncianse lixeiramente nas rexións non traducidas 5' e nos intróns, pero difiren significativamente nas rexións non traducidas 3'.^[2]

Proteína

A hemoglobina A (HbA) é unha proteína tetrámera que está formada por dúas cadeas alfa e dúas cadeas beta, a cal na vida adulta normal constitúe un 97% da hemoglobina total; as cadeas alfa combínanse coas delta para formar a HbA2, a cal, xunto coa hemoglobina fetal (HbF), forma o restante 3% da hemoglobina adulta.^[2]

Importancia clínica

A alfa-talasemia orixínase por delecións en calquera dos xenes alfa e tamén delecións de HBA2 e HBA1; tamén se informou de casos de talasemia non debidas a delecións.^[2]

Interaccións

Esta proteína presenta interaccións coa subunidade beta da hemoglobina (HBB).^[3]^[4]

Notas

↑ "HBA1 gene: MedlinePlus Genetics".
↑ ^2,0 ^2,1 ^2,2 ^2,3 "Entrez Gene: HBA1 hemoglobin, alpha 1".
↑ Stelzl U, Worm U, Lalowski M, Haenig C, Brembeck FH, Goehler H, Stroedicke M, Zenkner M, Schoenherr A, Koeppen S, Timm J, Mintzlaff S, Abraham C, Bock N, Kietzmann S, Goedde A, Toksöz E, Droege A, Krobitsch S, Korn B, Birchmeier W, Lehrach H, Wanker EE (setembro de 2005). "A human protein-protein interaction network: a resource for annotating the proteome". Cell 122 (6): 957–68. PMID 16169070. doi:10.1016/j.cell.2005.08.029. hdl:11858/00-001M-0000-0010-8592-0.
↑ Shaanan B (novembro de 1983). "Structure of human oxyhaemoglobin at 2.1 A resolution". J. Mol. Biol. 171 (1): 31–59. PMID 6644819. doi:10.1016/S0022-2836(83)80313-1.

Véxase tamén

Outros artigos

Bibliografía

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Ligazóns externas

GeneReviews/NCBI/NIH/UW entrada sobre a alfa-talasemia
Entradas de OMIM sobre a alfa-talasemia
Relación de toda a información estrutural dispoñible en PDB para UniProt: P69905 (Hemoglobin subunit alpha) en PDBe-KB.

[1] "HBA1 gene: MedlinePlus Genetics".

[entrez-2] 2,0 ^2,1 ^2,2 ^2,3 "Entrez Gene: HBA1 hemoglobin, alpha 1".

[pmid16169070-3] Stelzl U, Worm U, Lalowski M, Haenig C, Brembeck FH, Goehler H, Stroedicke M, Zenkner M, Schoenherr A, Koeppen S, Timm J, Mintzlaff S, Abraham C, Bock N, Kietzmann S, Goedde A, Toksöz E, Droege A, Krobitsch S, Korn B, Birchmeier W, Lehrach H, Wanker EE (setembro de 2005). "A human protein-protein interaction network: a resource for annotating the proteome". Cell 122 (6): 957–68. PMID 16169070. doi:10.1016/j.cell.2005.08.029. hdl:11858/00-001M-0000-0010-8592-0.

[pmid6644819-4] Shaanan B (novembro de 1983). "Structure of human oxyhaemoglobin at 2.1 A resolution". J. Mol. Biol. 171 (1): 31–59. PMID 6644819. doi:10.1016/S0022-2836(83)80313-1.

[1]

[2]

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