Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

HBA1 Gene

protein-coding   GIFtS: 63
GCID: GC16P000277

hemoglobin, alpha 1
 Explore 65 diseases affiliated with
HBA1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for HBA1    

Aliases
for HBA1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Hemoglobin, Alpha 11 2     Alpha-1-Globin1
Hemoglobin Alpha Chain2 3     Alpha-Globin1
CD312     Hemoglobin Alpha 1 Globin Chain2
HBH2     Hemoglobin Alpha-1 Chain2
Alpha One Globin2     Hemoglobin Subunit Alpha2
Alpha-1 Globin2     Alpha-Globin1

External Ids:    HGNC: 48231   Entrez Gene: 30392   Ensembl: ENSG000002061727   OMIM: 1418005   UniProtKB: P699053   

Export aliases for HBA1 gene to outside databases

Previous GC identifers: GC16P000243 GC16P000156 GC16P000159 GC16P000166 GC16P000143 GC16P000241 GC16P000144 GC16P000253 GC16P000258 GC16P000262 GC16P000266


Summaries
for HBA1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for HBA1:
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)

UniProtKB/Swiss-Prot: HBA_HUMAN, P69905
Function: Involved in oxygen transport from the lung to the various peripheral tissues

Gene Wiki entry for HBA1 (Hemoglobin, alpha 1)


Genomic Views
for HBA1 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NC_018927.1  NT_010393.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the HBA1 gene promoter:
         COUP-TF1   AP-1   Sp1   ATF-2   COUP   HNF-4alpha2   HNF-4alpha1   COUP-TF   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): HBA1 promoter sequence
   Search SABiosciences Chromatin IP Primers for HBA1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HBA1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 16p13.3   Ensembl cytogenetic band:  16p13.3   HGNC cytogenetic band: 16p13.3

HBA1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HBA1 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P000277:  view genomic region     (about GC identifiers)

Start:
 226,679 bp from pter      End:
 227,521 bp from pter
Size:
 843 bases      Orientation:
 plus strand

Proteins
for HBA1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: HBA_HUMAN, P69905 (See protein sequence)
Recommended Name: Hemoglobin subunit alpha  
Size: 142 amino acids; 15258 Da
Subunit: Heterotetramer of two alpha chains and two beta chains in adult hemoglobin A (HbA); two alpha chains and two
delta chains in adult hemoglobin A2 (HbA2); two alpha chains and two epsilon chains in early embryonic hemoglobin
Gower-2; two alpha chains and two gamma chains in fetal hemoglobin F (HbF)
Miscellaneous: Gives blood its red color
Sequence caution: Sequence=BAD97112.1; Type=Erroneous initiation;
6/206 PDB 3D structures from and Proteopedia for HBA1 (see all 206):
1A00 (3D)        1A01 (3D)        1A0U (3D)        1A0Z (3D)        1A3N (3D)        1A3O (3D)    
Secondary accessions: P01922 Q1HDT5 Q3MIF5 Q53F97 Q96KF1 Q9NYR7 Q9UCM0

Explore the universe of human proteins at neXtProt for HBA1: NX_P69905

Post-translational modifications:

  • The initiator Met is not cleaved in variant Thionville and is acetylated1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P69905

    • HBA1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_000549.1  
    ENSEMBL proteins: 
     ENSP00000322421   ENSP00000380899  
    Reactome Protein details: P69905
    Human Recombinant Protein Products: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate: HBA1
    OriGene Custom Protein Services for HBA1 
    GenScript Custom Purified and Recombinant Proteins Services for HBA1
    Novus Biologicals HBA1 Proteins
    Novus Biologicals HBA1 Lysate
    Browse Sino Biological Recombinant Proteins
    ProSpec Recombinant Protein for HBA1
    Browse Proteins at Uscn

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005833hemoglobin complex ----
    GO:0022627cytosolic small ribosomal subunit ----
    GO:0031838haptoglobin-hemoglobin complex ----


    HBA1 for ontologies           About GeneDecksing



    HBA1 Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of HBA1
    Browse R&D Systems for Antibodies
    OriGene Antibodies: HBA1
    OriGene Custom Antibody Services for HBA1 
    GenScript Custom Superior Antibodies Services for HBA1
    Novus Biologicals HBA1 Antibodies
    Abcam antibodies for HBA1 
    Browse Antibodies at Uscn
    ThermoFisher Antibodies for HBA1

    Assay Products for HBA1: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Immunoassay Development
    Browse OriGene Fluorogenic Cell Assay Kits
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for HBA1
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs and CLIAs at Uscn

    Protein Domains /
    Families
    for HBA1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HBA1 for domains           About GeneDecksing

    5/6 InterPro domains/families (see all 6):
     IPR002339 Haemoglobin_pi
     IPR012292 Globin_dom
     IPR002338 Haemoglobin_a
     IPR009050 Globin-like
     IPR000971 Globin

    Graphical View of Domain Structure for InterPro Entry P69905

    ProtoNet protein and cluster: P69905

    UniProtKB/Swiss-Prot: HBA_HUMAN, P69905
    Similarity: Belongs to the globin family


    Function
    for HBA1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: HBA_HUMAN, P69905
    Function: Involved in oxygen transport from the lung to the various peripheral tissues

         Genatlas biochemistry entry for HBA1:
    hemoglobin,alpha 1,adult

    miRNA
    Products:            		 OriGene 3'-UTR Clone: HBA1
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat HBA1
    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate HBA1
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for HBA1
    OriGene shRNA RFP: HBA1
    OriGene siRNA: HBA1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat HBA1

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for HBA1

    Clone
    Products:             		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for HBA1
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for HBA1 (see all 2)
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: HBA1 (NM_000558)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HBA1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HBA1 

    Cell Line
    Products:             		GenScript Custom overexpressing Cell Line Services for HBA1
    Search LifeMap BioReagents cell lines for HBA1

    In Situ Assay
    Products:       
         		Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for HBA1

    Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004601peroxidase activity ----
    GO:0005344oxygen transporter activity ----
    GO:0005515protein binding ----
    GO:0019825oxygen binding ----
    GO:0020037heme binding ----


    HBA1 for ontologies           About GeneDecksing


    Animal Models:
         2 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Hba-a2):
     mortality/aging  reproductive system 

    HBA1 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for HBA1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/6 super-pathways (see all 6) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1O2/CO2 exchange in erythrocytes
    		O2/CO2 exchange in erythrocytes1.00
    		Uptake of Carbon Dioxide and Release of Oxygen by Erythrocytes1.00
    		Uptake of Oxygen and Release of Carbon Dioxide by Erythrocytes1.00
    		Endocytosis of Hemoglobin:Haptoglobin:CD1630.20
    2Cleavage of Alpha-1-Microglobulin
    		Binding and Uptake of Ligands by Scavenger Receptors0.79
    		Scavenging of Heme from Plasma0.79
    3Metabolism
    		Metabolism1.00
    4Selenium Pathway
    		Selenium Pathway1.00
    5African trypanosomiasis
    		African trypanosomiasis1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    1 BioSystems Pathway for HBA1 
        Selenium Pathway

    5/7        Reactome Pathways for HBA1 (see all 7)
        Uptake of Carbon Dioxide and Release of Oxygen by Erythrocytes
    Metabolism
    Uptake of Oxygen and Release of Carbon Dioxide by Erythrocytes
    O2/CO2 exchange in erythrocytes
    Scavenging of Heme from Plasma


    2         Kegg Pathways  (Kegg details for HBA1):
        African trypanosomiasis
    Malaria


    HBA1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for HBA1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/57 Interacting proteins for HBA1 (P699051, 2, 3 ENSP000003224214) via UniProtKB, MINT, STRING, and/or I2D (see all 57)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PTENP604842, 3, ENSP000003610214MINT-63919 I2D: score=4 STRING: ENSP00000361021
    UBE3AQ050862, 3, ENSP000003810454MINT-8276413 I2D: score=2 STRING: ENSP00000381045
    NAP1L1P552092, 3MINT-63873 I2D: score=3 
    CTSDP073392, 3MINT-3974347 I2D: score=1 
    HBBP688711, 2, 3, ENSP000003339944EBI-714680,EBI-715554 MINT-24813 I2D: score=10 STRING: ENSP00000333994
    About this table

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0010942positive regulation of cell death ----
    GO:0015671oxygen transport ----
    GO:0042542response to hydrogen peroxide ----
    GO:0042744hydrogen peroxide catabolic process ----
    GO:0051291protein heterooligomerization ----


    HBA1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for HBA1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    HBA1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for HBA1

    3 HMDB Compounds for HBA1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Heme(protoporphyrinato)iron (see all 19)14875-96-8--
    IronArmco iron (see all 19)7439-89-6--
    OxygenOxygen (see all 5)7782-44-7--

    10 DrugBank Compounds for HBA1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Iron DextranDexferrum (see all 2)9004-66-4targetactivator17139284 11752352 17016423
    MefloquineMefloquine HCL (see all 2)53230-10-7targetantagonist17139284 17016423
    1,3,5-BENZENETRICARBOXYLIC ACID-- --target--10592235
    2,6-DICARBOXYNAPHTHALENE-- --target--10592235
    2-[(2-methoxy-5-methylphenoxy)methyl]pyridine-- --target--10592235
    2-[4-({[(3,5-DICHLOROPHENYL)AMINO]CARBONYL}AMINO)PHENOXY]-2-METHYLPROPANOIC ACID-- --target--10592235
    2-{4-[(3,5-DIMETHYLANILINO)-CARBONYL-METHYL]-PHENOXY}-2-METHYLPROPIONIC ACID-- --target--10592235
    4-Carboxycinnamic Acid-- --target--10592235
    4-[(5-methoxy-2-methylphenoxy)methyl]pyridine-- --target--10592235
    SEBACIC ACID-- --target--10592235

    1 Novoseek chemical compound relationship for HBA1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    oxygen 0 1 11857738 (1)

    Search CenterWatch for drugs/clinical trials and news about HBA1 / HBA 

    Transcripts
    for HBA1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for HBA1 gene: 
    NM_000558.3  

    Unigene Cluster for HBA1:

    Hemoglobin, alpha 1
    Hs.449630  [show with all ESTs]
    Unigene Representative Sequence: BQ709225
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000320868(uc002cfx.1) ENST00000472694 ENST00000397797 ENST00000487791


    miRNA
    Products:             		 OriGene 3'-UTR Clone: HBA1
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat HBA1
    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate HBA1
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for HBA1
    OriGene shRNA RFP: HBA1
    OriGene siRNA: HBA1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat HBA1
    Clone
    Products:             		 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for HBA1
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for HBA1 (see all 2)
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: HBA1 (NM_000558)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HBA1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HBA1 
    Primer
    Products:            		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for HBA1
    Browse OriGene validated miRNA SYBR primer pairs
    Search SABiosciences RT2 qPCR Primer Assays in human, mouse, rat HBA1
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HBA1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HBA1

    Additional cDNA sequence: 

    AF097635.1 AF147332.1 BC005931.1 BC008572.1 BC032122.2 BC050661.1 V00493.1 

    24/43 DOTS entries (see all 43):

    DT.95275579  DT.87006562  DT.100854998  DT.92474555  DT.95235785  DT.95073457  DT.86992853  DT.87007649 
    DT.454828  DT.100860413  DT.100863766  DT.95275550  DT.92474634  DT.100763115  DT.95275573  DT.100833672 
    DT.102840366  DT.100831289  DT.87005366  DT.95275558  DT.95275543  DT.100758728  DT.92474569  DT.100758729 

    24/2898 AceView cDNA sequences (see all 2898):

    CR605748 AF105974 CR612274 AA339774 CR610186 H38915 AA339863 H81458 
    AA300349 H78333 AJ713549 AA343426 AA334707 AA300458 T56116 BM263053 
    BU070898 C05369 AA340004 AA321363 AA295036 N54294 CR606053 R98538 

    GeneLoc Exon Structure


    Expression
    for HBA1 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    HBA1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    HBA1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    6 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    PlacentaChorionic VillusExtraembryonic Hemangioblast CellsBlood, Endothelium
    OvaryOvigerous CordOvarian Somatic CellsOvary
    OvaryPrimordial FolliclePre-Granulosa CellsOvary
    Skeletal MuscleHyoid Arch MusclesMuscle Progenitor CellsSkeletal Muscle
    Skeletal MuscleMandibular Arch MusclesMuscle Progenitor CellsSkeletal Muscle
    TestisSeminiferous TubulesSertoli cellsTestis
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See HBA1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for HBA1

    SOURCE GeneReport for Unigene cluster: Hs.449630

    UniProtKB/Swiss-Prot: HBA_HUMAN, P69905
    Tissue specificity: Red blood cells

        SABiosciences Custom PCR Arrays for HBA1
    Primer
    Products:    		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for HBA1
    Browse OriGene validated miRNA SYBR primer pairs
    Search SABiosciences RT2 qPCR Primer Assays in human, mouse, rat HBA1
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HBA1
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HBA1
    In Situ
    Assay Products:     
         		Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for HBA1

    Orthologs
    for HBA1 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of chordates.

    Orthologs for HBA1 gene from 2/8 species (see all 8)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves HBAA1 hemoglobin, alpha 1 73.94(n)
    70.42(a)    		   416652  NM_001004376.2  NP_001004376.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii si:ch211-5k11.66
    hbaa16
    (see all 7)    		 hemoglobin alpha adult-1
    (see all 7)    		 48(a)
    45(a)
    (see all 7)    		 many ↔ many
    many ↔ many
    (see all 7)    		 3(55945253-55946071)
    3(55951717-55957631)


    ENSEMBL Gene Tree for HBA1 (if available)
    TreeFam Gene Tree for HBA1 (if available) 

    Paralogs
    for HBA1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for HBA1 gene
    HBA21 2  HBG22  HBE12  CYGB2  HBZ2  HBD2  HBG12  HBB2  
    HBQ12  HBM2  
    10 SIMAP similar genes for HBA1 using alignment to 9 protein entries:     HBA_HUMAN (see all proteins):
    HBA2    HBQ1    HBZ    HBG1    HBD    HBB
    HBG2    HBM    HBE1    CYGB

    HBA1 for paralogs           About GeneDecksing



    Genomic Variants
    for HBA1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/269 NCBI SNPs in HBA1 are shown (see all 269)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 16 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs2818647751,2
    		Cpathogenic227018(+) AAGAAC/G/TGTGGC 3 N K mis10--------
    rs10603391,2
    		Cpathogenic227039(+) ACCAAA/C/GGCCGT 3 K N mis1 ese30--------
    rs348795871,2
    		Cpathogenic227080(+) GTCCGA/CCCTGA 2 D A mis10--------
    rs347028141,2
    		Cuntested226700(+) CAGACC/TCAGAG 1 -- ut510--------
    rs342209801,2
    		Cuntested226716(+) CCACCA/GTGGTG 2 M V mis10--------
    rs2818648021,2
    		Cuntested226720(+) CATGGA/G/TGCTGT 3 E G V mis10--------
    rs2818606501,2
    		Cuntested226744(-) TGACGC/G/TTGGTC 3 N T S mis10--------
    rs2818606461,2
    		Cuntested226751(-) GCGGCA/C/GTTGAC 3 N K mis10--------
    rs353319091,2
    		Cuntested226755(+) AGGCCA/C/GCCTGG 3 T P A mis10--------
    rs339643171,2
    		Cuntested226758(+) CCGCCA/C/TGGGGT 3 R W mis10--------

    HapMap Linkage Disequilibrium report for HBA1 (226679 - 227521 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 5 variations for HBA1
         5 CNVs: 49664 66910 35361 37503 5329
    Human Gene Mutation Database (HGMD): HBA1

    Locus Specific Mutation Databases (LSDB): HBA1

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing HBA1
    DNA2.0 Custom Variant and Variant Library Synthesis for HBA1

    Disorders / Diseases
    for HBA1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    HBA1 for disorders           About GeneDecksing

    OMIM gene information: 141800   
    OMIM disorders: 604131  140700  
    UniProtKB/Swiss-Prot: HBA_HUMAN, P69905
  • Defects in HBA1 may be a cause of Heinz body anemias (HEIBAN) [MIM:140700]. This is a form of non-spherocytic
    • hemolytic anemia of Dacie type 1. After splenectomy, which has little benefit, basophilic inclusions called Heinz
    bodies are demonstrable in the erythrocytes. Before splenectomy, diffuse or punctate basophilia may be evident. Most
    of these cases are probably instances of hemoglobinopathy. The hemoglobin demonstrates heat lability. Heinz bodies are
    observed also with the Ivemark syndrome (asplenia with cardiovascular anomalies) and with glutathione peroxidase
    deficiency
  • Defects in HBA1 are the cause of alpha-thalassemia (A-THAL) [MIM:604131]. The thalassemias are the most common
    • monogenic diseases and occur mostly in Mediterranean and Southeast Asian populations. The hallmark of
    alpha-thalassemia is an imbalance in globin-chain production in the adult HbA molecule. The level of alpha chain
    production can range from none to very nearly normal levels. Deletion of both copies of each of the two alpha-globin
    genes causes alpha(0)-thalassemia, also known as homozygous alpha thalassemia. Due to the complete absence of alpha
    chains, the predominant fetal hemoglobin is a tetramer of gamma-chains (Bart hemoglobin) that has essentially no
    oxygen carrying capacity. This causes oxygen starvation in the fetal tissues leading to prenatal lethality or early
    neonatal death. The loss of three alpha genes results in high levels of a tetramer of four beta chains (hemoglobin H),
    causing a severe and life-threatening anemia known as hemoglobin H disease. Untreated, most patients die in childhood
    or early adolescence. The loss of two alpha genes results in mild alpha-thalassemia, also known as heterozygous
    alpha-thalassemia. Affected individuals have small red cells and a mild anemia (microcytosis). If three of the four
    alpha-globin genes are functional, individuals are completely asymptomatic. Some rare forms of alpha-thalassemia are
    due to point mutations (non-deletional alpha-thalassemia). The thalassemic phenotype is due to unstable globin alpha
    chains that are rapidly catabolized prior to formation of the alpha-beta heterotetramers
  • Note=Alpha(0)-thalassemia is associated with non-immune hydrops fetalis, a generalized edema of the fetus with
    • fluid accumulation in the body cavities due to non-immune causes. Non-immune hydrops fetalis is not a diagnosis in
    itself but a symptom, a feature of many genetic disorders, and the end-stage of a wide variety of disorders
  • Defects in HBA1 are the cause of hemoglobin H disease (HBH) [MIM:613978]. HBH is a form of alpha-thalassemia
    • due to the loss of three alpha genes. This results in high levels of a tetramer of four beta chains (hemoglobin H),
    causing a severe and life-threatening anemia. Untreated, most patients die in childhood or early adolescence

    20/65 diseases for HBA1 (see all 65):    About MalaCards
    alpha thalassemia    thalassemia    heinz body anemias, alpha-    heinz body anemia
    erythremias, alpha-    hydrops fetalis    methemoglobinemias, alpha-    erythremia
    methemoglobinemia    capillary hemangioma    nonalcoholic steatohepatitis    type 2 diabetes mellitus
    type 1 diabetes mellitus    hypochromic anemia    beta thalassemia    ivemark syndrome
    diabetes mellitus    favism    idiopathic pulmonary fibrosis    polycystic ovary syndrome

    17 diseases from the University of Copenhagen DISEASES database for HBA1:
    Thalassemia     Diabetes mellitus     Sarcoma     Vascular disease
    Vascular cancer     Carcinoma     Lymphangioma     Anemia
    Hemangioma     Diabetic retinopathy     Hyperglycemia     Capillary hemangioma
    Heart disease     Hypoglycemia     Kaposi's sarcoma     Breast cancer
    Epithelioid sarcoma

    2 Novoseek disease relationships for HBA1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    thalassemia 56 1 14978697 (1)
    niddm 27 1 8159099 (1)

    GeneTests: HBA1
    Alpha-Thalassemia

    Genetic Association Database (GAD): HBA1
    Human Genome Epidemiology (HuGE) Navigator: HBA1 (210 documents)

    Export disorders for HBA1 gene to outside databases

    Publications
    for HBA1 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for HBA1 gene, integrated from 9 sources (see all 434):
    (articles sorted by number of sources associating them with HBA1)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. A regulatory SNP causes a human genetic disease by creating a new transcriptional promoter. (PubMed id 16728641)1, 2 De Gobbi M.... Higgs D.R. (2006)
    2. A novel 33.3 kb deletion (- -KOL) in the alpha-globin gene cluster: a brief report on deletional alpha-thalassaemia in the heterogeneous eastern Indian population. (PubMed id 16042697)1, 4 Sarkar A.A....Dasgupta U.B. (2005)
    3. Molecular and clinical features of Hb H disease in northern Thailand. (PubMed id 15921165)1, 4 Charoenkwan P....Sanguansermsri T. (2005)
    4. Associations between frequencies of a susceptible TNF-alpha promoter allele and protective alpha-thalassaemias and malaria parasite incidence in Vanuatu. (PubMed id 15941417)1, 4 Ubalee R....Hirayama K. (2005)
    5. Prevalence of alpha-globin gene deletions among patients with unexplained microcytosis in a North-American population. (PubMed id 15768555)1, 4 Bergeron J....Soulieres D. (2005)
    6. A novel mutation of the alpha2-globin causing alpha(+)-thalassemia: Hb Plasencia [alpha125(H8)Leu-->Arg (alpha2). (PubMed id 15921163)1, 2 Martin G.... Benavente C. (2005)
    7. Detection of three common, deletional alpha-thalassemia determinants in Southern China by a single-tube multiplex polymerase chain reaction method. (PubMed id 15008263)1, 4 Liu J.Z....Chen L.C. (2004)
    8. Characterization of hemoglobin bassett (alpha94Asp-->Ala), a variant with very low oxygen affinity. (PubMed id 15495251)1, 2 Abdulmalik O.... Asakura T. (2004)
    9. The sequence and analysis of duplication-rich human chromosome 16. (PubMed id 15616553)1, 2 Martin J.... Pennacchio L.A. (2004)
    10. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)

    External Searches for HBA1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing HBA1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 3039 HGNC: 4823 AceView: HB_ Ensembl:ENSG00000206172 euGenes: HUgn3039
    ECgene: HBA1 Kegg: 3039 H-InvDB: HBA1

    Other Databases showing HBA1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing HBA1 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for HBA1 Pharmacogenomics, SNPs, Pathways
    HbVarhttp://globin.bx.psu.edu/cgi-bin/hbvar/query_vars3?mode=directlink&gene=HBA1
    HbVarhttp://globin.bx.psu.edu/cgi-bin/hbvar/query_vars3?mode=directlink&gene=HBA2
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/HBA1
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/HBA2
    SHMPDhttp://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=HBA1
    Wikipedia http://en.wikipedia.org/wiki/Hemoglobin

    Intellectual Property
    for HBA1 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for HBA1 gene:
    Search GeneIP for patents involving HBA1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    Products
    for HBA1 gene

    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
    In Situ Hybridization Assays from
    Advanced Cell Diagnostics
    About This Section

     EMD Millipore Mono- and Polyclonal Antibodies for the study of HBA1
     Browse Purified and Recombinant Proteins at EMD Millipore
     Browse for Gene Knock-down Tools from EMD Millipore
     Browse Kits and Assays available from EMD Millipore
     Browse Small Molecules at EMD Millipore
     Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Phosphatase Activity Assays/Reagents   Browse Recombinant/Natural Proteins  
     OriGene Antibodies for HBA1   OriGene shRNA RFP for HBA1  
     OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for HBA1   OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for HBA1  
     OriGene Protein Over-expression Lysate for HBA1   Browse OriGene Fluorogenic Cell Assay Kits  
     OriGene siRNA for HBA1   OriGene 3'-UTR Clone for HBA1  
     OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for HBA1   OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for HBA1  
     Browse OriGene GFP tagged cDNA clones in CMV expression vector   Browse OriGene MicroRNA Expression Plasmids  
     Browse OriGene basic RS shRNAs   Browse OriGene validated miRNA SYBR primer pairs  
     Browse OriGene full length recombinant human proteins expressed in human HEK293 cells   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for HBA1   OriGene Custom Protein Services for HBA1  
     OriGene Custom Immunoassay Development  

         		 
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat HBA1
     QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing HBA1
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HBA1
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat HBA1
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HBA1
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HBA1
     GenScript Custom Purified and Recombinant Proteins Services for HBA1 GenScript cDNA clones with any tag delivered in your preferred vector for HBA1
     GenScript Custom Assay Services for HBA1 GenScript Custom Superior Antibodies Services for HBA1
     GenScript Custom overexpressing Cell Line Services for HBA1 CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in HBA1 promoter
     Search Chromatin IP Primers for HBA1
     Search RT2 qPCR Primer Assays in human, mouse, rat HBA1
     Search GNC Networks for HBA1
     SABiosciences Custom PCR Arrays for HBA1
     Search Tocris compounds for HBA1
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological cDNA Clones
     Antibodies/Proteins Production Services
     Rabbit Monoclonal Antibody Platform
     Bulk Purchasing
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     HBA1 antibodies
     HBA1 proteins
     HBA1 lysates
     Antibodies for HBA1
     See all of Abcam's Antibodies, Kits and Proteins for HBA1
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Recombinant Protein for HBA1




     Browse ELISAs, CLIAs, Proteins, and Antibodies at Uscn
     Search LifeMap BioReagents cell lines for HBA1
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for HBA1
     Browse SwitchGear 3'UTR luciferase reporter plasmids for HBA1
     SwitchGear Promoter luciferase reporter plasmids for HBA1
     ThermoFisher Antibodies for HBA1
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HBA1
           
    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

    View Random Gene

    Category
    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 

    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Copyright © 1996-2013 , Weizmann Institute of Science. All Rights Reserved.
    Hot genes      Disease genes      HBA1 gene at Home site.
    hostname: 356977-web1.xennexinc.com index build: 100 solr: 1.4