HBD: Difference between revisions

Jump to navigation Jump to search
VisualWikitext
m (Robot: Automated text replacement (-{{WikiDoc Cardiology Network Infobox}} +, -<references /> +{{reflist|2}}, -{{reflist}} +{{reflist|2}}))
 
m (Bot: HTTP→HTTPS (v475))
 
Line 1: Line 1:
<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{Infobox_gene}}
{{PBB_Controls
'''Hemoglobin subunit delta''' is a [[protein]] that in humans is encoded by the ''HBD'' [[gene]].<ref name="pmid2649166">{{cite journal | vauthors = Higgs DR, Vickers MA, Wilkie AO, Pretorius IM, Jarman AP, Weatherall DJ | title = A review of the molecular genetics of the human alpha-globin gene cluster | journal = Blood | volume = 73 | issue = 5 | pages = 1081–104 |date=May 1989 | pmid = 2649166 | pmc = | doi = }}</ref>
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}


<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
== Function ==
{{GNF_Protein_box
| image = PBB_Protein_HBD_image.jpg
| image_source = [[Protein_Data_Bank|PDB]] rendering based on 1a00.
| PDB = {{PDB2|1a00}}, {{PDB2|1a01}}, {{PDB2|1a0u}}, {{PDB2|1a0z}}, {{PDB2|1a3n}}, {{PDB2|1a3o}}, {{PDB2|1abw}}, {{PDB2|1aby}}, {{PDB2|1aj9}}, {{PDB2|1b86}}, {{PDB2|1bab}}, {{PDB2|1bbb}}, {{PDB2|1bij}}, {{PDB2|1buw}}, {{PDB2|1bz0}}, {{PDB2|1bz1}}, {{PDB2|1bzz}}, {{PDB2|1c7b}}, {{PDB2|1c7c}}, {{PDB2|1c7d}}, {{PDB2|1cbl}}, {{PDB2|1cbm}}, {{PDB2|1cls}}, {{PDB2|1cmy}}, {{PDB2|1coh}}, {{PDB2|1dke}}, {{PDB2|1dxt}}, {{PDB2|1dxu}}, {{PDB2|1dxv}}, {{PDB2|1fn3}}, {{PDB2|1g9v}}, {{PDB2|1gbu}}, {{PDB2|1gbv}}, {{PDB2|1gli}}, {{PDB2|1gzx}}, {{PDB2|1hab}}, {{PDB2|1hac}}, {{PDB2|1hba}}, {{PDB2|1hbb}}, {{PDB2|1hbs}}, {{PDB2|1hco}}, {{PDB2|1hdb}}, {{PDB2|1hga}}, {{PDB2|1hgb}}, {{PDB2|1hgc}}, {{PDB2|1hho}}, {{PDB2|1ird}}, {{PDB2|1j3y}}, {{PDB2|1j3z}}, {{PDB2|1j40}}, {{PDB2|1j41}}, {{PDB2|1j7s}}, {{PDB2|1j7w}}, {{PDB2|1j7y}}, {{PDB2|1jy7}}, {{PDB2|1k0y}}, {{PDB2|1k1k}}, {{PDB2|1kd2}}, {{PDB2|1lfl}}, {{PDB2|1lfq}}, {{PDB2|1lft}}, {{PDB2|1lfv}}, {{PDB2|1lfy}}, {{PDB2|1lfz}}, {{PDB2|1ljw}}, {{PDB2|1m9p}}, {{PDB2|1mko}}, {{PDB2|1nej}}, {{PDB2|1nih}}, {{PDB2|1nqp}}, {{PDB2|1o1i}}, {{PDB2|1o1j}}, {{PDB2|1o1k}}, {{PDB2|1o1l}}, {{PDB2|1o1m}}, {{PDB2|1o1n}}, {{PDB2|1o1o}}, {{PDB2|1o1p}}, {{PDB2|1qi8}}, {{PDB2|1qsh}}, {{PDB2|1qsi}}, {{PDB2|1qxd}}, {{PDB2|1qxe}}, {{PDB2|1r1x}}, {{PDB2|1r1y}}, {{PDB2|1rps}}, {{PDB2|1rq3}}, {{PDB2|1rq4}}, {{PDB2|1rqa}}, {{PDB2|1rvw}}, {{PDB2|1sdk}}, {{PDB2|1sdl}}, {{PDB2|1shr}}, {{PDB2|1si4}}, {{PDB2|1thb}}, {{PDB2|1uiw}}, {{PDB2|1vwt}}, {{PDB2|1xxt}}, {{PDB2|1xy0}}, {{PDB2|1xye}}, {{PDB2|1xz2}}, {{PDB2|1xz4}}, {{PDB2|1xz5}}, {{PDB2|1xz7}}, {{PDB2|1xzu}}, {{PDB2|1xzv}}, {{PDB2|1y09}}, {{PDB2|1y0a}}, {{PDB2|1y0c}}, {{PDB2|1y0d}}, {{PDB2|1y0t}}, {{PDB2|1y0w}}, {{PDB2|1y22}}, {{PDB2|1y2z}}, {{PDB2|1y31}}, {{PDB2|1y35}}, {{PDB2|1y45}}, {{PDB2|1y46}}, {{PDB2|1y4b}}, {{PDB2|1y4f}}, {{PDB2|1y4g}}, {{PDB2|1y4p}}, {{PDB2|1y4q}}, {{PDB2|1y4r}}, {{PDB2|1y4v}}, {{PDB2|1y5f}}, {{PDB2|1y5j}}, {{PDB2|1y5k}}, {{PDB2|1y7c}}, {{PDB2|1y7d}}, {{PDB2|1y7g}}, {{PDB2|1y7z}}, {{PDB2|1y83}}, {{PDB2|1y85}}, {{PDB2|1y8w}}, {{PDB2|1ydz}}, {{PDB2|1ye0}}, {{PDB2|1ye1}}, {{PDB2|1ye2}}, {{PDB2|1yen}}, {{PDB2|1yeo}}, {{PDB2|1yeq}}, {{PDB2|1yeu}}, {{PDB2|1yev}}, {{PDB2|1yff}}, {{PDB2|1yg5}}, {{PDB2|1ygd}}, {{PDB2|1ygf}}, {{PDB2|1yh9}}, {{PDB2|1yhe}}, {{PDB2|1yhr}}, {{PDB2|1yie}}, {{PDB2|1yih}}, {{PDB2|1yvq}}, {{PDB2|1yvt}}, {{PDB2|1yzi}}, {{PDB2|2d5z}}, {{PDB2|2d60}}, {{PDB2|2dn1}}, {{PDB2|2dn2}}, {{PDB2|2dn3}}, {{PDB2|2h35}}, {{PDB2|2hbc}}, {{PDB2|2hbd}}, {{PDB2|2hbe}}, {{PDB2|2hbf}}, {{PDB2|2hbs}}, {{PDB2|2hco}}, {{PDB2|2hhb}}, {{PDB2|2hhd}}, {{PDB2|2hhe}}, {{PDB2|3hhb}}, {{PDB2|4hhb}}, {{PDB2|6hbw}}
| Name = Hemoglobin, delta
| HGNCid = 4829
| Symbol = HBD
| AltSymbols =;
| OMIM = 142000
| ECnumber = 
| Homologene = 73881
| MGIid = 96021
| Function = {{GNF_GO|id=GO:0005344 |text = oxygen transporter activity}} {{GNF_GO|id=GO:0005506 |text = iron ion binding}} {{GNF_GO|id=GO:0019825 |text = oxygen binding}} {{GNF_GO|id=GO:0020037 |text = heme binding}} {{GNF_GO|id=GO:0046872 |text = metal ion binding}}
| Component = {{GNF_GO|id=GO:0005833 |text = hemoglobin complex}}
| Process = {{GNF_GO|id=GO:0006810 |text = transport}} {{GNF_GO|id=GO:0015671 |text = oxygen transport}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 3045
    | Hs_Ensembl = 
    | Hs_RefseqProtein = NP_000510
    | Hs_RefseqmRNA = NM_000519
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 
    | Hs_GenLoc_start = 
    | Hs_GenLoc_end = 
    | Hs_Uniprot = 
    | Mm_EntrezGene = 15129
    | Mm_Ensembl = 
    | Mm_RefseqmRNA = XM_973056
    | Mm_RefseqProtein = XP_978150
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 
    | Mm_GenLoc_start = 
    | Mm_GenLoc_end = 
    | Mm_Uniprot =
  }}
}}
'''Hemoglobin, delta''', also known as '''HBD''', is a human [[gene]].


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
The delta (HBD) and beta (HBB) genes are normally expressed in the adult: two alpha chains plus two beta chains constitute [[Hemoglobin A|HbA]], which in normal adult life comprises about 97% of the total hemoglobin. Two alpha chains plus two delta chains constitute [[Hemoglobin A2|HbA2]], which with [[Fetal hemoglobin|HbF]] comprises the remaining 3% of adult hemoglobin. Five beta-like globin genes are found within a 45 kb cluster on chromosome 11 in the following order: 5' - [[HBE1|epsilon]] – [[HBG2|gamma-G]] – [[HBG1|gamma-A]] – '''delta''' – [[HBB|beta]] - 3'.<ref name = "entrez"/>
{{PBB_Summary
 
| section_title =
== Clinical significance ==
| summary_text = The delta (HBD) and beta (HBB) genes are normally expressed in the adult: two alpha chains plus two beta chains constitute HbA, which in normal adult life comprises about 97% of the total hemoglobin. Two alpha chains plus two delta chains constitute HbA-2, which with HbF comprises the remaining 3% of adult hemoglobin. Five beta-like globin genes are found within a 45 kb cluster on chromosome 11 in the following order:     5'-epsilon--Ggamma--Agamma--delta--beta-3'. Mutations in the delta-globin gene are associated with beta-thalassemia.<ref>{{cite web | title = Entrez Gene: HBD hemoglobin, delta| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3045| accessdate = }}</ref>
 
}}
Mutations in the delta-globin gene are associated with [[Delta-thalassemia]].<ref name = "entrez">{{cite web | title = Entrez Gene: HBD hemoglobin, delta| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3045| accessdate = }}</ref>


==See also==
==See also==
Line 59: Line 16:


==References==
==References==
{{reflist|2}}
{{reflist}}


==Further reading==
==Further reading==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading
*{{cite journal   |vauthors=Schillirò G, Russo-Mancuso G, Dibenedetto SP, etal |title=Six rare hemoglobin variants found in Sicily. |journal=Hemoglobin |volume=15 |issue= 5 |pages= 431–7 |year= 1992 |pmid= 1802885 |doi=10.3109/03630269108998862 }}
| citations =
*{{cite journal  |vauthors=Collins FS, Weissman SM |title=The molecular genetics of human hemoglobin. |journal=Prog. Nucleic Acid Res. Mol. Biol. |volume=31 |issue=  |pages= 315–462 |year= 1985 |pmid= 6397774 |doi=  }}
*{{cite journal | author=Schillirò G, Russo-Mancuso G, Dibenedetto SP, ''et al.'' |title=Six rare hemoglobin variants found in Sicily. |journal=Hemoglobin |volume=15 |issue= 5 |pages= 431-7 |year= 1992 |pmid= 1802885 |doi= }}
*{{cite journal  |vauthors=Giardina B, Messana I, Scatena R, Castagnola M |title=The multiple functions of hemoglobin. |journal=Crit. Rev. Biochem. Mol. Biol. |volume=30 |issue= 3 |pages= 165–96 |year= 1995 |pmid= 7555018 |doi=10.3109/10409239509085142 }}
*{{cite journal  | author=Higgs DR, Vickers MA, Wilkie AO, ''et al.'' |title=A review of the molecular genetics of the human alpha-globin gene cluster. |journal=Blood |volume=73 |issue= 5 |pages= 1081-104 |year= 1989 |pmid= 2649166 |doi= }}
*{{cite journal  | author=Collins FS, Weissman SM |title=The molecular genetics of human hemoglobin. |journal=Prog. Nucleic Acid Res. Mol. Biol. |volume=31 |issue=  |pages= 315-462 |year= 1985 |pmid= 6397774 |doi=  }}
*{{cite journal  | author=Giardina B, Messana I, Scatena R, Castagnola M |title=The multiple functions of hemoglobin. |journal=Crit. Rev. Biochem. Mol. Biol. |volume=30 |issue= 3 |pages= 165-96 |year= 1995 |pmid= 7555018 |doi=  }}
}}
{{refend}}
{{refend}}
{{PDB Gallery|geneid=3045}}
{{Hemeproteins}}
[[Category:Hemoglobins]]


{{protein-stub}}
{{protein-stub}}
{{WikiDoc Sources}}

Latest revision as of 19:18, 29 October 2017

VALUE_ERROR (nil)
Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

n/a

n/a

Ensembl

n/a

n/a

UniProt

n/a

n/a

RefSeq (mRNA)

n/a

n/a

RefSeq (protein)

n/a

n/a

Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

Hemoglobin subunit delta is a protein that in humans is encoded by the HBD gene.[1]

Function

The delta (HBD) and beta (HBB) genes are normally expressed in the adult: two alpha chains plus two beta chains constitute HbA, which in normal adult life comprises about 97% of the total hemoglobin. Two alpha chains plus two delta chains constitute HbA2, which with HbF comprises the remaining 3% of adult hemoglobin. Five beta-like globin genes are found within a 45 kb cluster on chromosome 11 in the following order: 5' - epsilon – gamma-G – gamma-A – delta – beta - 3'.[2]

Clinical significance

Mutations in the delta-globin gene are associated with Delta-thalassemia.[2]

See also

References

  1. ↑ Higgs DR, Vickers MA, Wilkie AO, Pretorius IM, Jarman AP, Weatherall DJ (May 1989). "A review of the molecular genetics of the human alpha-globin gene cluster". Blood. 73 (5): 1081–104. PMID 2649166.
  2. ↑ 2.0 2.1 "Entrez Gene: HBD hemoglobin, delta".

Further reading

  • Schillirò G, Russo-Mancuso G, Dibenedetto SP, et al. (1992). "Six rare hemoglobin variants found in Sicily". Hemoglobin. 15 (5): 431–7. doi:10.3109/03630269108998862. PMID 1802885.
  • Collins FS, Weissman SM (1985). "The molecular genetics of human hemoglobin". Prog. Nucleic Acid Res. Mol. Biol. 31: 315–462. PMID 6397774.
  • Giardina B, Messana I, Scatena R, Castagnola M (1995). "The multiple functions of hemoglobin". Crit. Rev. Biochem. Mol. Biol. 30 (3): 165–96. doi:10.3109/10409239509085142. PMID 7555018.


Retrieved from "https://www.wikidoc.org/index.php?title=HBD&oldid=1414781"