HBB - hemoglobin subunit beta Gene
Also Known as ECYT6; CD113t-C; beta-globin
Species: Homo sapiens
About HBB
This gene has 6 transcripts (splice variants), 525 orthologues, 11 paralogues and is associated with 28 phenotypes.
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]
HBB Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_000518.5 | NP_000509.1 | hemoglobin subunit beta |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| contributes to haptoglobin binding |
IDA
IDA: Inferred from direct assay
|
19740759 | GOA |
| enables hemoglobin binding |
IDA
IDA: Inferred from direct assay
|
1512262 | GOA |
| enables oxygen binding |
IDA
IDA: Inferred from direct assay
|
11747442 | GOA |
| contributes to peroxidase activity |
IDA
IDA: Inferred from direct assay
|
19740759 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
1552945 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in hydrogen peroxide catabolic process |
IDA
IDA: Inferred from direct assay
|
19740759 | GOA |
| involved in nitric oxide transport |
IDA
IDA: Inferred from direct assay
|
8292032 | GOA |
| involved in oxygen transport |
IDA
IDA: Inferred from direct assay
|
11159543 | GOA |
| involved in oxygen transport |
IMP
IMP: Inferred from mutant phenotype
|
7518430 | GOA |
| involved in renal absorption |
IMP
IMP: Inferred from mutant phenotype
|
18465053 | GOA |
| involved in response to hydrogen peroxide |
IDA
IDA: Inferred from direct assay
|
19740759 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in extracellular space |
IDA
IDA: Inferred from direct assay
|
21805676 | GOA |
| part of haptoglobin-hemoglobin complex |
IDA
IDA: Inferred from direct assay
|
19740759 | GOA |
| part of hemoglobin complex |
IDA
IDA: Inferred from direct assay
|
19740759 | GOA |
| part of hemoglobin complex |
IPI
IPI: Inferred from physical interaction
|
8114096 | GOA |
HBB Protein Structure
Globin: Globin (8 - 112)
- 0
- 100
- 147 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
hemoglobin subunit beta |
|
HBB Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
HBB | P68871 | HBM | Homo sapiens | Q6B0K9 | 32296183 | |
|
Intra
|
HBB | P68871 | HBA1 | Homo sapiens | P69905 | 32296183 | |
|
Intra
|
HBB | P68871 | HBA1 | Homo sapiens | P69905 | 1552945 | |
|
Intra
|
HBB | P68871 | HBZ | Homo sapiens | P02008 | 32296183 | |
|
Intra
|
HBB | P68871 | HBZ | Homo sapiens | P02008 | 11159543 | |
|
Intra
|
HBB | P68871 | HBZ | Homo sapiens | P02008 | 32296183 |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Sickle Cell Anemia |
|
|
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
|
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
|
| Beta-Thalassemia |
|
|
| Heinz Body Anemias |
|
|
| Erythrocytosis, Familial, 6 |
|
|
| Methemoglobinemia, Beta Type |
|
|
| Methemoglobinemia, Beta-Globin Type |
|
|
| Beta-Thalassemia Major |
|
|
| Malaria |
|
|
| Hemoglobin C Disease |
|
|
| Hemoglobin E Disease |
|
|
| Hemoglobin D Disease |
|
|
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
|
| Hemoglobinopathy |
|
|
| Sickle Cell Disease |
|
|
| Hemoglobin Se Disease |
|
|
| Sickle Cell Disease And Related Diseases |
|
|
| Beta-Thalassemia Intermedia |
|
|
| Sickle Beta Thalassemia |
|
|
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
|
| Hemoglobin Lepore-Beta-Thalassemia Syndrome |
|
|
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
|
| Sickle Cell - Hemoglobin D Disease |
|
|
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
|
| Sickle Cell-Hemoglobin E Disease Syndrome |
|
|
| Alpha-Thalassemia |
|
|
| Hemolytic Anemia |
|
|
| Deficiency Anemia |
|
|
| Autosomal Dominant Secondary Polycythemia |
|
|
| Thalassemia |
|
|
| Thalassemia Minor |
|
|
| Splenic Infarction |
|
|
| Acute Chest Syndrome |
|
|
| Hypochromic Microcytic Anemia |
|
|
| Erythroleukemia |
|
|
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
|
| Methemoglobinemia |
|
|
| Blood Protein Disease |
|
|
| Plasmodium Falciparum Malaria |
|
|
| Glutathione Peroxidase Deficiency |
|
|
| Polycythemia |
|
|
| Splenic Sequestration |
|
|
| Cholelithiasis |
|
|
| Congenital Hemolytic Anemia |
|
|
| Kidney Papillary Necrosis |
|
|
| Autosomal Dominant Beta Thalassemia |
|
|
| Anemia, Sideroblastic, 1 |
|
|
| Thrombotic Thrombocytopenic Purpura |
|
|
| Penile Disease |
|
|
| Aneruptive Fever |
|
|
| Hemoglobin H Disease |
|
|
| Trachoma |
|
|
| Diabetes Mellitus |
|
|
| Splenomegaly |
|
|
| Middle Lobe Syndrome |
|
|
| Iron Metabolism Disease |
|
|
| Priapism |
|
|
| Glucosephosphate Dehydrogenase Deficiency |
|
|
| Phenylketonuria |
|
|
| Microphthalmia, Syndromic 13 |
|
|
| Microcytic Anemia |
|
|
| Erythrocytosis, Familial, 1 |
|
|
| Febrile Seizures, Familial, 6 |
|
|
| Hereditary Elliptocytosis |
|
|
| Neonatal Anemia |
|
|
| Tay-Sachs Disease |
|
|
| Hereditary Spherocytosis |
|
|
| Physical Disorder |
|
|
| Erythrocytosis, Familial, 7 |
|
|
| Gaucher'S Disease |
|
|
| Hemochromatosis, Type 1 |
|
|
| Granulomatous Disease, Chronic, X-Linked |
|
|
| Parasitic Protozoa Infectious Disease |
|
|
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
|
| Factor Viii Deficiency |
|
|
| Osteopetrosis, Autosomal Recessive 6 |
|
|
| Fanconi Anemia, Complementation Group A |
|
|
| Retinitis Pigmentosa |
|
|