Tclin HBA1 Hemoglobin subunit alpha

Protein Summary

Description

Involved in oxygen transport from the lung to the various peripheral tissues. The human alpha globin gene cluster located on chromosome 16 spans about 30 kb and includes seven loci: 5'- zeta - pseudozeta - mu - pseudoalpha-1 - alpha-2 - alpha-1 - theta - 3'. The alpha-2 (HBA2) and alpha-1 (HBA1) coding sequences are identical. These genes differ slightly over the 5' untranslated regions and the introns, but they differ significantly over the 3' untranslated regions. Two alpha chains plus two beta chains constitute HbA, which in normal adult life comprises about 97% of the total hemoglobin; alpha chains combine with delta chains to constitute HbA-2, which with HbF (fetal hemoglobin) makes up the remaining 3% of adult hemoglobin. Alpha thalassemias result from deletions of each of the alpha genes as well as deletions of both HBA2 and HBA1; some nondeletion alpha thalassemias have also been reported. [provided by RefSeq, Jul 2008]

Uniprot Accession IDs

• P69905
• P01922
• Q1HDT5
• Q3MIF5
• Q53F97
• Q96KF1
• Q9NYR7
• Q9UCM0

Gene Name

• HBA1

Ensembl ID

• ENST00000251595
• ENSP00000251595
• ENSG00000188536
• ENST00000320868
• ENSP00000322421
• ENSG00000206172

Symbol

• HBH
• ECYT7
• HBA-T3
• METHBA

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
small molecule perturbation	1
cellular component	0.99
interacting protein	0.96
biological term	0.85
cell type or tissue	0.81

Protein Classes

No PANTHER Classes or DTO Classes found

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 952.28   (req: < 5)

Gene RIFs: 239   (req: <= 3)

Antibodies: 168   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 952.28   (req: >= 5)

Gene RIFs: 239   (req: > 3)

Antibodies: 168   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 13

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 1

Protein Sequence and Structure

Residue Counts

Protein Sequence

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Expression Data (0 Tissues)

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No expression data found

Related Tools

Target Illumination GWAS Analytics (TIGA)

TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.

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GENEVA

GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.

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GlyGen

GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.

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ARCHS4

ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.

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Approved Drugs (1)

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1 – 1 of 1

voxelotor

HBA1Tclin

INHIBITOR pEC50 : 5.09

Active Ligands (0)

No active ligands found

Protein-Protein Interactions (127)

Explore Interacting Targets

1 – 10 of 127

• See Interactions on String-DB

UPF3A

Tbio

Novelty:  0.01431609

p_int:  0.999991122

p_ni:  0.000008878

Data Source:  BioPlex

GDPD1

Tbio

Family:  Enzyme

Novelty:  0.28722153

p_int:  0.999963934

p_ni:  0.000036066

Data Source:  BioPlex

HLA-DPA1

Tbio

Novelty:  0.01080446

p_int:  0.999120943

p_ni:  0.000879057

Data Source:  BioPlex

MAPK6

Tbio

Family:  Kinase

Novelty:  0.01012514

p_int:  0.998292985

p_ni:  0.00170691

p_wrong:  1.05e-7

Data Source:  BioPlex

TNFSF8

Tbio

Novelty:  0.01292216

p_int:  0.997937592

p_ni:  0.002062354

p_wrong:  5.4e-8

Data Source:  BioPlex

MANSC1

Tdark

Novelty:  0.91681036

p_int:  0.997413917

p_ni:  0.002586083

Data Source:  BioPlex

FCGR1A

Tclin

Novelty:  0.00073204

p_int:  0.995277328

p_ni:  0.004722661

p_wrong:  1.2e-8

Data Source:  BioPlex

IGSF8

Tbio

Novelty:  0.03016623

p_int:  0.994241471

p_ni:  0.00575843

p_wrong:  9.9e-8

Data Source:  BioPlex

MSL2

Tbio

Family:  Enzyme

Novelty:  0.01221658

p_int:  0.991115363

p_ni:  0.008884633

p_wrong:  4e-9

Data Source:  BioPlex

HSPA8

Tchem

Novelty:  0.00081014

p_int:  0.985787962

p_ni:  0.014212036

p_wrong:  2e-9

Data Source:  BioPlex

Nearest Tclin Targets

Nearest Tclin calculations are only available for targets with KEGG Pathway annotations.

Pathways (13)

Reactome (7)

KEGG (2)

WikiPathways (4)

Binding and Uptake of Ligands by Scavenger Receptors (R-HSA-2173782)

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Data Source	Name	Explore in Pharos	Explore in Source
Reactome	Binding and Uptake of Ligands by Scavenger Receptors	116 targets	R-HSA-2173782
Reactome	Erythrocytes take up carbon dioxide and release oxygen	12 targets	R-HSA-1237044
Reactome	Erythrocytes take up oxygen and release carbon dioxide	8 targets	R-HSA-1247673
Reactome	O2/CO2 exchange in erythrocytes	12 targets	R-HSA-1480926
Reactome	Scavenging of heme from plasma	87 targets	R-HSA-2168880

Name	Explore in Pharos	Explore in Source
Binding and Uptake of Ligands by Scavenger Receptors	116 targets	R-HSA-2173782
Erythrocytes take up carbon dioxide and release oxygen	12 targets	R-HSA-1237044
Erythrocytes take up oxygen and release carbon dioxide	8 targets	R-HSA-1247673
O2/CO2 exchange in erythrocytes	12 targets	R-HSA-1480926
Scavenging of heme from plasma	87 targets	R-HSA-2168880

Viral Interactions (0)

No viral interactions found

Gene Ontology Terms (23)

Functions (5)

Components (10)

Processes (8)

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1 – 5 of 5

GO Term	Evidence	Assigned by
heme binding	Inferred from Biological aspect of Ancestor (IBA)	GO_Central
organic acid binding	Inferred from Biological aspect of Ancestor (IBA)	GO_Central
oxygen binding	Inferred from Biological aspect of Ancestor (IBA)	GO_Central
oxygen carrier activity	Inferred from Biological aspect of Ancestor (IBA)	GO_Central
iron ion binding	Inferred from Electronic Annotation (IEA)	InterPro

Disease Associations ()

No disease associations found

GWAS Traits (42)

Items per page:

5

1 – 5 of 42

GWAS Trait	EFO ID	ENSG ID	Study Count	SNP Count	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
mean corpuscular hemoglobin concentration	EFO_0004528	ENSG00000188536	13	19	26		99.9
mean corpuscular hemoglobin concentration	EFO_0004528	ENSG00000206172	13	19	26		99.9
mean corpuscular volume	EFO_0004526	ENSG00000188536	6	11	14		98.7
mean corpuscular volume	EFO_0004526	ENSG00000206172	6	11	14		98.7
mean corpuscular hemoglobin	EFO_0004527	ENSG00000206172	4	6	6		98.6

Items per page:

5

1 – 5 of 42

GWAS Trait	EFO ID	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
mean corpuscular hemoglobin concentration	EFO_0004528	26		99.9
mean corpuscular hemoglobin concentration	EFO_0004528	26		99.9
mean corpuscular volume	EFO_0004526	14		98.7
mean corpuscular volume	EFO_0004526	14		98.7
mean corpuscular hemoglobin	EFO_0004527	6		98.6

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UniProt Keyword Find Similar Targets

No Header	No Header
3D-structure
Acetylation
Complete proteome
Direct protein sequencing
Disease mutation
Glycation
Glycoprotein
Heme
Hereditary hemolytic anemia
Iron

GWAS Trait Find Similar Targets

No Header	No Header
bilirubin measurement
central nervous system cancer
erythrocyte count
erythrocyte measurement
glioblastoma multiforme
HbA1c measurement
heel bone mineral density
hematocrit
hematological measurement
hemoglobin A1 measurement

MGI Phenotype Find Similar Targets

No Header	No Header
cellular phenotype
hematopoietic system phenotype
homeostasis/metabolism phenotype
muscle phenotype

IDG Resources

No IDG generated resources found

Orthologs (9)

1 – 5 of 9

Species	Name	Source ID	Gene ID	OMA	EggNOG	Inparanoid
Mouse	hemoglobin alpha, adult chain 1	MGI:96015	15122
Mouse	hemoglobin alpha, adult chain 2	MGI:96016	110257
Rat	hemoglobin alpha, adult chain 1	RGD:2782	25632
Dog	hemoglobin subunit alpha-like		100855540
Cow	hemoglobin, alpha 1		100140149

Species	Name	OMA	EggNOG	Inparanoid
Mouse	hemoglobin alpha, adult chain 1
Mouse	hemoglobin alpha, adult chain 2
Rat	hemoglobin alpha, adult chain 1
Dog	hemoglobin subunit alpha-like
Cow	hemoglobin, alpha 1

Publication Statistics

PubMed Score 952.28

PubMed score by year

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PubTator Score 7445.71

PubTator score by year

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Related Publications

Text Mined References (555)

GeneRif Annotations (239)

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PMID	Year	Title