Version 5.4
Homo sapiens Gene: HBB
Summary
InnateDB Gene IDBG-407852.3
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol HBB
Gene Name hemoglobin, beta
Synonyms beta-globin; CD113t-C
Species Homo sapiens
Ensembl Gene ENSG00000244734
Encoded Proteins
IDBP-25808
hemoglobin, beta
IDBP-25810
hemoglobin, beta
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary The alpha (HBA) and beta (HBB) loci determine the structure of the 2 types of polypeptide chains in adult hemoglobin, Hb A. The normal adult hemoglobin tetramer consists of two alpha chains and two beta chains. Mutant beta globin causes sickle cell anemia. Absence of beta chain causes beta-zero-thalassemia. Reduced amounts of detectable beta globin causes beta-plus-thalassemia. The order of the genes in the beta-globin cluster is 5'-epsilon -- gamma-G -- gamma-A -- delta -- beta--3'. [provided by RefSeq, Jul 2008]
The alpha (HBA) and beta (HBB) loci determine the structure of the 2 types of polypeptide chains in adult hemoglobin, Hb A. The normal adult hemoglobin tetramer consists of two alpha chains and two beta chains. Mutant beta globin causes sickle cell anemia. Absence of beta chain causes beta-zero-thalassemia. Reduced amounts of detectable beta globin causes beta-plus-thalassemia. The order of the genes in the beta-globin cluster is 5\'-epsilon -- gamma-G -- gamma-A -- delta -- beta--3\'. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 11:5225464-5229395
Strand Reverse strand
Band p15.4
Transcripts
ENST00000380315 ENSP00000369671
ENST00000335295 ENSP00000333994
ENST00000475226
ENST00000485743
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 20 experimentally validated interaction(s) in this database.
Experimentally validated
Total 20 [view]
Protein-Protein 17 [view]
Protein-DNA 3 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0004601 peroxidase activity
GO:0005344 oxygen transporter activity
GO:0005506 iron ion binding
GO:0005515 protein binding
GO:0019825 oxygen binding
GO:0020037 heme binding
GO:0030492 hemoglobin binding
GO:0031720 haptoglobin binding
Biological Process
GO:0007596 blood coagulation
GO:0008217 regulation of blood pressure
GO:0010942 positive regulation of cell death
GO:0015671 oxygen transport
GO:0015701 bicarbonate transport
GO:0030185 nitric oxide transport
GO:0042542 response to hydrogen peroxide
GO:0042744 hydrogen peroxide catabolic process
GO:0044281 small molecule metabolic process
GO:0045429 positive regulation of nitric oxide biosynthetic process
GO:0050880 regulation of blood vessel size
GO:0051291 protein heterooligomerization
GO:0055114 oxidation-reduction process
GO:0070293 renal absorption
Cellular Component
GO:0005576 extracellular region
GO:0005829 cytosol
GO:0005833 hemoglobin complex
GO:0031838 haptoglobin-hemoglobin complex
GO:0070062 extracellular vesicular exosome
GO:0071682 endocytic vesicle lumen
GO:0072562 blood microparticle
Orthologs
No orthologs found for this gene
Pathways
NETPATH
REACTOME
REACT_160163
Scavenging of heme from plasma pathway
REACT_24970
Factors involved in megakaryocyte development and platelet production pathway
REACT_121380
Erythrocytes take up oxygen and release carbon dioxide pathway
REACT_121329
Erythrocytes take up carbon dioxide and release oxygen pathway
REACT_120969
O2/CO2 exchange in erythrocytes pathway
REACT_160300
Binding and Uptake of Ligands by Scavenger Receptors pathway
REACT_111217
Metabolism pathway
REACT_604
Hemostasis pathway
KEGG
hsa05144
Malaria pathway
hsa05143
African trypanosomiasis pathway
INOH
PID NCI
Cross-References
SwissProt
TrEMBL B3VL12 B5ANL9 D5FZW3 E9M263 F8W6P5 J7LKS8 K4EN30 Q14484 Q7Z2K5 Q86VF0 Q9BXA2 Q9H1I6
UniProt Splice Variant
Entrez Gene 3043
UniGene
RefSeq NM_000518
HUGO HGNC:4827
OMIM 141900
CCDS CCDS7753
HPRD 00786
IMGT
EMBL AC104389 AF186606 AF186608 AF186609 AF186610 AF186611 AF186612 AF186613 AF186615 AF186616 AF186617 AF186618 AF186619 AF186620 AF348448 AJ871593 AY013299 AY264346 AY310318 EU760934 EU760937 EU863596 FJ876835 HQ174213 JN613430 JX440362 JX645479 JX645480 M25660
GenPept AAA53153 AAF08258 AAF08260 AAF08261 AAF08262 AAF08263 AAF08264 AAF08265 AAF08267 AAF08268 AAF08269 AAF08270 AAF08271 AAF08272 AAG46182 AAK30154 AAP03091 AAP74754 ACF16769 ACF16772 ACF93730 ACZ67952 ADW79453 AEQ28038 AFR11469 AFV63186 AFV63187 CAI40296
RNA Seq Atlas 3043

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca