Hemoglobin subunit delta (HBD)
The protein contains 147 amino acids for an estimated molecular weight of 16055 Da.
Involved in oxygen transport from the lung to the various peripheral tissues. (updated: March 4, 2015)
Protein identification was indicated in the following studies:
- Goodman and co-workers. (2013) The proteomics and interactomics of human erythrocytes. Exp Biol Med (Maywood) 238(5), 509-518.
- Lange and co-workers. (2014) Annotating N termini for the human proteome project: N termini and Nα-acetylation status differentiate stable cleaved protein species from degradation remnants in the human erythrocyte proteome. J Proteome Res. 13(4), 2028-2044.
- Hegedűs and co-workers. (2015) Inconsistencies in the red blood cell membrane proteome analysis: generation of a database for research and diagnostic applications. Database (Oxford) 1-8.
- Wilson and co-workers. (2016) Comparison of the Proteome of Adult and Cord Erythroid Cells, and Changes in the Proteome Following Reticulocyte Maturation. Mol Cell Proteomics. 15(6), 1938-1946.
- Bryk and co-workers. (2017) Quantitative Analysis of Human Red Blood Cell Proteome. J Proteome Res. 16(8), 2752-2761.
- D'Alessandro and co-workers. (2017) Red blood cell proteomics update: is there more to discover? Blood Transfus. 15(2), 182-187.
- Chu and co-workers. (2018) Quantitative mass spectrometry of human reticulocytes reveal proteome-wide modifications during maturation. Br J Haematol. 180(1), 118-133.
Methods
The following articles were analysed to gather the proteome content of erythrocytes.
The gene or protein list provided in the studies were processed using the ID mapping API of Uniprot in September 2018. The number of proteins identified and mapped without ambiguity in these studies is indicated below.
Only Swiss-Prot entries (reviewed) were considered for protein evidence assignation.
| Publication | Identification 1 | Uniprot mapping 2 | Not mapped / Obsolete | TrEMBL | Swiss-Prot |
|---|---|---|---|---|---|
| Goodman (2013) | 2289 (gene list) | 2278 | 53 | 20599 | 2269 |
| Lange (2014) | 1234 | 1234 | 7 | 28 | 1224 |
| Hegedus (2015) | 2638 | 2622 | 0 | 235 | 2387 |
| Wilson (2016) | 1658 | 1528 | 170 | 291 | 1068 |
| d'Alessandro (2017) | 1826 | 1817 | 2 | 0 | 1815 |
| Bryk (2017) | 2090 | 2060 | 10 | 108 | 1942 |
| Chu (2018) | 1853 | 1804 | 55 | 362 | 1387 |
1 as available in the article and/or in supplementary material
2 uniprot mapping returns all protein isoforms as one entry
The compilation of older studies can be retrieved from the Red Blood Cell Collection database.
The data and differentiation stages presented below come from the proteomic study and analysis performed by our partners of the GReX consortium, more details are available in their published work.
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The reference OMIM entry for this protein is 142000
Hemoglobin--delta locus; hbd
The delta locus determines the delta, or nonalpha, chain of hemoglobin A(2) (alpha-2/delta-2). Jeffreys (1979) found an example of a restriction enzyme variant in a DNA intervening sequence of the delta-globin gene. Spritz et al. (1980) could not 'identify unambiguously the structural basis of the low level of expression characteristic of the delta-globin gene.' They discussed the basis for evolution of duplicate adult beta-type genes. Petes (1982) suggested that some of the structural variants of the delta chain may be the consequence of a nonreciprocal transfer of information from the beta-globin gene to the delta-globin gene by a process termed 'intrachromosomal gene conversion' (Klein and Petes, 1981). Losekoot et al. (1989) described a patient who was a compound heterozygote for delta-0-thalassemia and for a deletion type of thalassemia. By amplifying the delta gene by PCR and sequencing it, they showed that the mutant gene had an insertion of an extra nucleotide at the third position of codon 91 of the second exon which gave rise to a premature stop codon at position 94. They presented a model to explain the insertion, namely, the formation of a hairpin loop by quasipalindromic sequences. Carver and Kutlar (1995) listed 27 delta-chain variants as of the beginning of 1995. The first-to-be discovered fusion hemoglobin, hemoglobin Lepore (which has several forms) has HBD sequence at the 5-prime end and HBB (141900) sequence at the 3-prime end. See, for example, Hb Lepore (Baltimore) (142000.0019) and Hb Lepore (Boston) (142000.0020). Formed by nonhomologous pairing and unequal crossing over, the fusion protein resulting from the complementary event is referred to as Hb anti-Lepore and has HBB sequence at the 5-prime end and HBD sequence at the 3-prime end; see, for example, hemoglobin Lincoln Park (141900.0157). Carver and Kutlar (1995) listed 10 fusion hemoglobins that had been described by the beginning of 1995. De Angioletti et al. (2002) characterized mutations and haplotypes of the HBD gene in 2 regions of southern Italy. They screened approximately 10,000 students in Basilicata and found 53 carriers of HBD variants in 43 unrelated families; in Campania, patients were ascertained through a routine thalassemia counseling service. They found 6 novel mutations and stated that 46 HBD mutations had been previously characterized, of which 30 were from the Mediterranean area (Huisman and Carver, 1998). ... More on the omim web site
May 12, 2019: Protein entry updated
Automatic update: model status changed
Nov. 17, 2018: Protein entry updated
Automatic update: model status changed
Feb. 2, 2018: Protein entry updated
Automatic update: Uniprot description updated
Dec. 19, 2017: Protein entry updated
Automatic update: Uniprot description updated
Nov. 23, 2017: Protein entry updated
Automatic update: Uniprot description updated
June 20, 2017: Protein entry updated
Automatic update: comparative model was added.
March 16, 2016: Protein entry updated
Automatic update: OMIM entry 142000 was added.
Feb. 25, 2016: Protein entry updated
Automatic update: model status changed