Subunit hemoglobin alfa

Subunit hemoglobin alfa^[4] ialah sebuah protein hemoglobin yang dikodkan oleh gen HBA1 dalam manusia.^[5]

Subunit hemoglobin alfa
Struktur sedia ada PDB Pencarian ortolog: PDBe RCSB Senarai kod 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
Pengecam
Alias	HBA1, HBA-T3, HBH, hemoglobin subunit alpha 1, METHBA, ECYT7
Pengecam-pengecam luaran	OMIM: 141800 MGI: 96015 HomoloGene: 469 GeneCards: HBA1
Kedudukan gen (Manusia) Kr. Kromosom 16[1] Jalur 16p13.3 Mula 176,680 bp[1] Tamat 177,522 bp[1]
Corak ekspresi RNA Bgee Human Mouse (ortholog) Top expressed in monocyte darah Sumsum tulang bone marrow cells Plasenta limpa ganglionic eminence muscle of thigh olfactory zone of nasal mucosa apex of heart Top expressed in Sumsum tulang limpa paru-paru Kantung yolka neural tube Otak tengah jantung korteks serebelum genital tubercle kawasan kulit More reference expression data BioGPS tiada data
Ontologi gen Fungsi molekul iron ion binding oxygen binding peroxidase activity oxygen carrier activity ikatan ion logam Pengikatan protein plasma heme binding haptoglobin binding organic acid binding Komponen sel cytosol endocytic vesicle lumen blood microparticle membran extracellular region cytosolic small ribosomal subunit hemoglobin complex extracellular exosome haptoglobin-hemoglobin complex Ekstrasel Proses biologi positive regulation of cell death protein heterooligomerization oxygen transport receptor-mediated endocytosis bicarbonate transport hydrogen peroxide catabolic process response to hydrogen peroxide cellular oxidant detoxification transport Sumber:Amigo / QuickGO
Ortolog Spesies Manusia Mencit Entrez 3039 15122 Ensembl ENSG00000206172 ENSMUSG00000069919 UniProt P69905 Q91VB8 RefSeq (mRNA) NM_000558 NM_008218 RefSeq (protein) NP_000508 NP_000508.1 NP_000549.1 NP_001077424 Kedudukan (UCSC) Chr 16: 0.18 – 0.18 Mb tiada data Carian PubMed [2] [3]
Wikidata
Papar/Sunting data manusia Papar/Sunting data mencit

Gen

Kelompok gen globin alfa manusia yang terletak pada kromosom 16 menjangkau kira-kira 30 kb dan merangkumi tujuh lokus: 5'- zeta - pseudozeta - mu - pseudoalfa-1 - alfa-2 - alfa-1 - teta - 3'. Urutan pengekodan alpha-2 (HBA2) dan alpha-1 (HBA1; gen ini) adalah sama. Gen ini berbeza sedikit di wilayah 5' tidak ditranslasikan dan intron, tetapi ia berbeza ketara di wilayah 3' tidak ditranslasikan.^[5]

Protein

Dua rantai alfa dengan dua rantai beta membentuk HbA yang merangkumi kira-kira 97% jumlah hemoglobin dalam kehidupan dewasa normal; rantai alfa bergabung dengan rantai delta untuk membentuk HbA-2 yang membentuk baki 3% hemoglobin dewasa bersama dengan hemoglobin janin (HbF).

Kepentingan klinikal

Talasemia alfa terhasil daripada pemadaman setiap gen alfa serta pemadaman kedua-dua HBA2 dan HBA1; beberapa talasemia alfa bukan pemadaman juga telah dilaporkan.^[5]

Interaktsi

Subunit hemoglobin alfa telah diperhatikan berinteraksi dengan subunit hemoglobin beta (HBB).^[6][7]

Rujukan

• Subunit hemoglobin beta

Rujukan

1. GRCh38: Ensembl release 89: ENSG00000206172 - Ensembl, May 2017
2. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
3. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "HBA1 gene: MedlinePlus Genetics".
5. "Entrez Gene: HBA1 hemoglobin, alpha 1".
6. 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 (September 2005). "A human protein-protein interaction network: a resource for annotating the proteome". Cell. 122 (6): 957–68. doi:10.1016/j.cell.2005.08.029. hdl:11858/00-001M-0000-0010-8592-0. PMID 16169070. S2CID 8235923.
7. Shaanan B (November 1983). "Structure of human oxyhaemoglobin at 2.1 A resolution". J. Mol. Biol. 171 (1): 31–59. doi:10.1016/S0022-2836(83)80313-1. PMID 6644819.

Pautan luar

• Entri talasemia alfa di GeneReviews/NCBI/NIH/UW
• Entri talasemia alfa di OMIM
• Gambaran maklumat struktur tersedia di PDB bagi UniProt: P69905 (Hemoglobin subunit alpha) di PDBe-KB.