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Gene: HBA1 (hemoglobin subunit alpha 1) Homo sapiens
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Symbol: HBA1
Name: hemoglobin subunit alpha 1
Description: Contributes to haptoglobin binding activity and peroxidase activity. Involved in hydrogen peroxide catabolic process; positive regulation of cell death; and response to hydrogen peroxide. Localizes to several cellular components, including the cytosolic small ribosomal subunit; haptoglobin-hemoglobin complex; and hemoglobin complex. Implicated in alpha thalassemia; hemoglobin H disease; and primary polycythemia. Biomarker of alpha thalassemia.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: alpha globin chain; alpha one globin; alpha-1 globin; alpha-1-globin; alpha-2 globin chain; alpha-globin; CD31; delta globin; ECYT7; HBA-T3; HBH; hemoglobin alpha 1 globin chain; hemoglobin alpha chain; hemoglobin alpha-1 chain; hemoglobin subunit alpha; hemoglobin, alpha 1; METHBA; MGC126895; MGC126897
Orthologs:
Related Pseudogenes: HBAP1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
NCBI Annotation Information: Note: We are aware that there is inconsistency among GenBank, RefSeq, and other browsers about the gene order in the alpha globin cluster. According to review by staff at HbVar (http://globin.bx.psu.edu/hbvar/menu.html), the gene order, telomere to centromere, for these loci is ...HBZ(HBZ2)..HBZP(HBZ1)..HBA2..HBA1... [13 Feb 2013]
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38 Ensembl16176,680 - 177,522 (+)Ensembl
GRCh3816176,680 - 177,522 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh3716226,679 - 227,520 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3616166,679 - 167,520 (+)NCBINCBI36hg18NCBI36
Build 3416166,678 - 167,520NCBI
Celera16426,194 - 427,035 (+)NCBI
Cytogenetic Map16p13.3NCBI
HuRef16144,721 - 145,562 (+)NCBIHuRef
CHM1_116226,657 - 227,528 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Expression


Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on HBA1
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 1351471
Created: 2005-03-08
Species: Homo sapiens
Last Modified: 2020-01-28
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.