Atlas of Genetics and Cytogenetics in Oncology and Haematology


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HBA1 (hemoglobin subunit alpha 1)

Identity

Alias_nameshemoglobin
Alias_symbol (synonym)HBA-T3
Other aliasHBH
HGNC (Hugo) HBA1
LocusID (NCBI) 3039
Atlas_Id 50605
Location 16p13.3  [Link to chromosome band 16p13]
Location_base_pair Starts at 176651 and ends at 177522 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
HBA1 (16p13.3) / GATA1 (Xp11.23)HBA1 (16p13.3) / HBA1 (16p13.3)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)HBA1   4823
Cards
Entrez_Gene (NCBI)HBA1  3039  hemoglobin subunit alpha 1
AliasesHBA-T3; HBH
GeneCards (Weizmann)HBA1
Ensembl hg19 (Hinxton)ENSG00000206172 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000206172 [Gene_View]  chr16:176651-177522 [Contig_View]  HBA1 [Vega]
ICGC DataPortalENSG00000206172
TCGA cBioPortalHBA1
AceView (NCBI)HBA1
Genatlas (Paris)HBA1
WikiGenes3039
SOURCE (Princeton)HBA1
Genetics Home Reference (NIH)HBA1
Genomic and cartography
GoldenPath hg38 (UCSC)HBA1  -     chr16:176651-177522 +  16p13.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)HBA1  -     16p13.3   [Description]    (hg19-Feb_2009)
EnsemblHBA1 - 16p13.3 [CytoView hg19]  HBA1 - 16p13.3 [CytoView hg38]
Mapping of homologs : NCBIHBA1 [Mapview hg19]  HBA1 [Mapview hg38]
OMIM140700   141800   604131   613978   
Gene and transcription
Genbank (Entrez)AF097635 AF105974 AF147332 AF281258 AF349571
RefSeq transcript (Entrez)NM_000558
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)HBA1
Cluster EST : UnigeneHs.654744 [ NCBI ]
CGAP (NCI)Hs.654744
Alternative Splicing GalleryENSG00000206172
Gene ExpressionHBA1 [ NCBI-GEO ]   HBA1 [ EBI - ARRAY_EXPRESS ]   HBA1 [ SEEK ]   HBA1 [ MEM ]
Gene Expression Viewer (FireBrowse)HBA1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3039
GTEX Portal (Tissue expression)HBA1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP69905   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP69905  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP69905
Splice isoforms : SwissVarP69905
PhosPhoSitePlusP69905
Domaine pattern : Prosite (Expaxy)GLOBIN (PS01033)   
Domains : Interpro (EBI)Globin    Globin-like    Globin/Proto    Haemoglobin_a-typ    Haemoglobin_pi   
Domain families : Pfam (Sanger)Globin (PF00042)   
Domain families : Pfam (NCBI)pfam00042   
Conserved Domain (NCBI)HBA1
DMDM Disease mutations3039
Blocks (Seattle)HBA1
PDB (SRS)###############################################################################################################################################################################################################################################################   
PDB (PDBSum)###############################################################################################################################################################################################################################################################   
PDB (IMB)###############################################################################################################################################################################################################################################################   
PDB (RSDB)###############################################################################################################################################################################################################################################################   
Structural Biology KnowledgeBase###############################################################################################################################################################################################################################################################   
SCOP (Structural Classification of Proteins)###############################################################################################################################################################################################################################################################   
CATH (Classification of proteins structures)###############################################################################################################################################################################################################################################################   
SuperfamilyP69905
Human Protein AtlasENSG00000206172
Peptide AtlasP69905
HPRD00784
IPIIPI00410714   IPI00853068   
Protein Interaction databases
DIP (DOE-UCLA)P69905
IntAct (EBI)P69905
FunCoupENSG00000206172
BioGRIDHBA1
STRING (EMBL)HBA1
ZODIACHBA1
Ontologies - Pathways
QuickGOP69905
Ontology : AmiGOperoxidase activity  oxygen transporter activity  iron ion binding  protein binding  extracellular region  cytosol  hemoglobin complex  hemoglobin complex  receptor-mediated endocytosis  positive regulation of cell death  oxygen transport  bicarbonate transport  membrane  oxygen binding  heme binding  cytosolic small ribosomal subunit  haptoglobin binding  haptoglobin-hemoglobin complex  response to hydrogen peroxide  hydrogen peroxide catabolic process  protein heterooligomerization  extracellular exosome  endocytic vesicle lumen  blood microparticle  cellular oxidant detoxification  
Ontology : EGO-EBIperoxidase activity  oxygen transporter activity  iron ion binding  protein binding  extracellular region  cytosol  hemoglobin complex  hemoglobin complex  receptor-mediated endocytosis  positive regulation of cell death  oxygen transport  bicarbonate transport  membrane  oxygen binding  heme binding  cytosolic small ribosomal subunit  haptoglobin binding  haptoglobin-hemoglobin complex  response to hydrogen peroxide  hydrogen peroxide catabolic process  protein heterooligomerization  extracellular exosome  endocytic vesicle lumen  blood microparticle  cellular oxidant detoxification  
Pathways : BIOCARTAHemoglobin's Chaperone [Genes]   
Pathways : KEGGAfrican trypanosomiasis    Malaria   
NDEx NetworkHBA1
Atlas of Cancer Signalling NetworkHBA1
Wikipedia pathwaysHBA1
Orthology - Evolution
OrthoDB3039
GeneTree (enSembl)ENSG00000206172
Phylogenetic Trees/Animal Genes : TreeFamHBA1
HOVERGENP69905
HOGENOMP69905
Homologs : HomoloGeneHBA1
Homology/Alignments : Family Browser (UCSC)HBA1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerHBA1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HBA1
dbVarHBA1
ClinVarHBA1
1000_GenomesHBA1 
Exome Variant ServerHBA1
ExAC (Exome Aggregation Consortium)HBA1 (select the gene name)
Genetic variants : HAPMAP3039
Genomic Variants (DGV)HBA1 [DGVbeta]
DECIPHERHBA1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisHBA1 
Mutations
ICGC Data PortalHBA1 
TCGA Data PortalHBA1 
Broad Tumor PortalHBA1
OASIS PortalHBA1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICHBA1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDHBA1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)The Globin Gene Server
BioMutasearch HBA1
DgiDB (Drug Gene Interaction Database)HBA1
DoCM (Curated mutations)HBA1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)HBA1 (select a term)
intoGenHBA1
Cancer3DHBA1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM140700    141800    604131    613978   
Orphanet17507    21963    12449    13808   
MedgenHBA1
Genetic Testing Registry HBA1
NextProtP69905 [Medical]
TSGene3039
GENETestsHBA1
Target ValidationHBA1
Huge Navigator HBA1 [HugePedia]
snp3D : Map Gene to Disease3039
BioCentury BCIQHBA1
ClinGenHBA1 (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD3039
Chemical/Pharm GKB GenePA29198
Clinical trialHBA1
Miscellaneous
canSAR (ICR)HBA1 (select the gene name)
Probes
Litterature
PubMed499 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineHBA1
EVEXHBA1
GoPubMedHBA1
iHOPHBA1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 18 13:55:03 CEST 2017

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