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HBA1 Gene

protein-coding   GIFtS: 63
GCID: GC16P000300

Hemoglobin, Alpha 1

  See HBA1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Hemoglobin, Alpha 11 2     alpha-globin2
Hemoglobin Alpha Chain2 3     Delta Globin2
HBH2 5     Hemoglobin Alpha 1 Globin Chain2
Alpha One Globin2     Hemoglobin Alpha-1 Chain2
Alpha-1 Globin2     Hemoglobin Subunit Alpha2
alpha-1-globin2     Alpha-globin3
Alpha-2 Globin Chain2     

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 GC16P000277 GC16P000292


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

GeneCards Summary for HBA1 Gene:
HBA1 (hemoglobin, alpha 1) is a protein-coding gene. Diseases associated with HBA1 include heinz body anemias, alpha-, and vascular cancer. An important paralog of this gene is HBE1.

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) 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000016.9  NC_018927.2  NT_010393.17  
Regulatory elements:
   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 Chromatin IP Primers for HBA1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 GC16P000300:  view genomic region     (about GC identifiers)

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

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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;
Selected PDB 3D structures from and Proteopedia for HBA1 (see all 217):
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

Explore proteomics data for HBA1 at MOPED

Post-translational modifications: 

  • The initiator Met is not cleaved in variant Thionville and is acetylated1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See HBA1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000549.1  
    ENSEMBL proteins: 
     ENSP00000322421   ENSP00000380899  
    Reactome Protein details: P69905

    HBA1 Human Recombinant Protein Products:

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    Browse Sino Biological Cell Lysates
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    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for HBA1 

    HBA1 Antibody Products:

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    Abcam antibodies for HBA1 (P68871, P69905, Q3MIF5, P69891)
    Browse Antibodies at Cloud-Clone Corp.
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    LSBio Antibodies in human, mouse, rat for HBA1

    HBA1 Assay Products:

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    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.
    Search eBioscience for ELISAs for HBA1 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (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


    Find genes that share domains with HBA1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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

         Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004601peroxidase activity ----
    GO:0005344oxygen transporter activity ----
    GO:0005506iron ion binding ----
    GO:0005515protein binding ----
    GO:0019825oxygen binding ----
         
    Find genes that share ontologies with HBA1           About GenesLikeMe


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

    Find genes that share phenotypes with HBA1           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for HBA1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for HBA1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for HBA1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for HBA1

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    Sino Biological Human cDNA Clone for HBA1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HBA1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HBA1

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HBA1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol5
    extracellular4
    cytoskeleton3
    nucleus2
    plasma membrane2
    golgi apparatus1
    mitochondrion1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region ----
    GO:0005829cytosol ----
    GO:0005833hemoglobin complex ----
    GO:0022627cytosolic small ribosomal subunit ----
    GO:0031838haptoglobin-hemoglobin complex ----

    Find genes that share ontologies with HBA1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for HBA1 About   (see all 6)  
    See pathways by source

    SuperPathContained pathways About
    1O2/CO2 exchange in erythrocytes
    O2/CO2 exchange in erythrocytes
    Uptake of Carbon Dioxide and Release of Oxygen by Erythrocytes0.00
    Uptake of Oxygen and Release of Carbon Dioxide by Erythrocytes0.00
    2Binding and Uptake of Ligands by Scavenger Receptors
    Binding and Uptake of Ligands by Scavenger Receptors0.53
    Scavenging of Heme from Plasma0.53
    3Metabolism
    Metabolism0.38
    4Selenium Pathway
    Selenium Pathway
    5Malaria
    Malaria


    Find genes that share SuperPaths with HBA1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for HBA1
        Selenium Pathway


    3 Reactome Pathways for HBA1
        Erythrocytes take up carbon dioxide and release oxygen
    Erythrocytes take up oxygen and release carbon dioxide
    Scavenging of heme from plasma


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

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for HBA1
    Interactions:

        Search GeneGlobe Interaction Network for HBA1

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

    Selected 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): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0010942positive regulation of cell death ----
    GO:0015671oxygen transport ----
    GO:0015701bicarbonate transport ----
    GO:0042542response to hydrogen peroxide ----
    GO:0042744hydrogen peroxide catabolic process ----

    Find genes that share ontologies with HBA1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for HBA1 (HBA)

    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 inferred 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)



    Find genes that share compounds with HBA1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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
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      QuantiTect SYBR Green Assays in human, mouse, rat HBA1
      QuantiFast Probe-based Assays in human, mouse, rat HBA1

    Additional mRNA sequence: 

    AF105974.1 AF281258.1 AF349571.1 AK223392.1 BC101846.1 BC101848.1 

    Selected DOTS entries (see all 42):

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

    Selected AceView cDNA sequences (see all 2898):

    AJ706612 CR613936 CR613529 CR602364 BQ477462 AW161241 AA369426 AA363343 
    AA358950 BX406172 AJ705860 AA333833 H95765 CR601946 AA359451 AF097635 
    H67209 AA382988 CD675063 H93784 N52386 AA340082 H94984 AA346405 

    GeneLoc Exon Structure


    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    HBA1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    HBA1 Expression
    About this image


    HBA1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 11) fully expand
     
     Blood (Cardiovascular System)    fully expand to see all 2 entries
             Extraembryonic Hemangioblast Cells Chorionic Villus
     
     Endothelium (Cardiovascular System)
             Extraembryonic Hemangioblast Cells Chorionic Villus
     
     Placenta (Extraembryonic Tissues)
             Extraembryonic Hemangioblast Cells Chorionic Villus
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Pre-Granulosa Cells Primordial Follicle
     
     Epithelial Cells
             Presumptive Podocytes Podocyte Layer
    HBA1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    HBA1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.449630

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

        Custom PCR Arrays for HBA1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HBA1

    (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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for HBA1 gene from Selected species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hba-a25
    Hba-a11
    hemoglobin alpha, adult chain 25
    hemoglobin alpha, adult chain 11
    81.46(n)1
    86.62(a)1
      11 (18.87 cM)5
    151221  NM_008218.21  NP_032244.21 
     322964895 
    chicken
    (Gallus gallus)
    Aves HBAA1 hemoglobin, alpha 1 73.94(n)
    70.42(a)
      416652  NM_001004376.2  NP_001004376.1 
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia hba11 hemoglobin, alpha 1 60.56(n)
    57.75(a)
      394454  NM_203529.1  NP_988860.1 
    zebrafish
    (Danio rerio)
    Actinopterygii HBQ16
    hemoglobin, theta 1
    46(a)
    1 → many
    12(21688563-21689767) ENSDARG00000045144


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for HBA1 gene
    HBA21 2  HBE12  HBG22  HBZ2  HBG12  HBD2  HBB2  HBQ12  
    HBM2  
    10 SIMAP similar genes for HBA1 using alignment to 11 protein entries:     HBA_HUMAN (see all proteins):
    HBA2    HBQ1    HBZ    HBG1    HBD    HBB
    HBG2    HBM    HBE1    CYGB

    Find genes that share paralogs with HBA1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for HBA1 (see all 435)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs347028141,2
    Cuntested1226700(+) CAGACC/TCAGAG 1 -- ut510--------
    rs342209801,2
    Cuntested1226716(+) CCACCA/GTGGTG 2 M V mis10--------
    rs2818648021,2
    Cuntested1226720(+) CATGGA/G/TGCTGT 3 E G V mis10--------
    rs360305761,2,,4
    Cuntested1226723(+) GGTGCG/TGTCTC 2 R L mis10--------
    rs347517641,2,,4
    Cuntested1226731(+) CTCCTC/GCCGAC 2 P A mis10--------
    rs340908561,2,,4
    Cuntested1226732(+) TCCTGA/CCGACA 2 D A mis10--------
    rs344105161,2
    Cuntested1226739(+) GACAAC/GACCAA 2 N K mis10--------
    rs2818606501,2
    Cuntested1226744(-) TGACGC/G/TTGGTC 3 N T S mis10--------
    rs2818606461,2
    Cuntested1226751(-) GCGGCA/C/GTTGAC 3 N K mis10--------
    rs356159821,2,,4
    Cuntested1226753(+) CAAGGA/CCGCCT 2 D A mis10--------

    HapMap Linkage Disequilibrium report for HBA1 (226679 - 227521 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for HBA1 (see all 20):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2662940CNV Deletion23128226
    esv2676630CNV Deletion23128226
    esv2667554CNV Deletion23128226
    esv2422427CNV Duplication17116639
    dgv2462n71CNV Loss21882294
    nsv519528CNV Loss19592680
    nsv904660CNV Loss21882294
    dgv2463n71CNV Loss21882294
    dgv2460n71CNV Loss21882294
    esv24781CNV Loss19812545

    Human Gene Mutation Database (HGMD): HBA1
    Locus Specific Mutation Databases (LSDB): HBA1

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing HBA1
    DNA2.0 Custom Variant and Variant Library Synthesis for HBA1

    (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.)
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    OMIM gene information: 141800   
    OMIM disorders: 604131  140700  613978  
    UniProtKB/Swiss-Prot: HBA_HUMAN, P69905
  • Heinz body anemias (HEIBAN) [MIM:140700]: 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. Note=The
    disease may be caused by mutations affecting the gene represented in this entry
  • Alpha-thalassemia (A-THAL) [MIM:604131]: A form of thalassemia. Thalassemias are common monogenic
    diseases occurring 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 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). Note=The disease is caused by
    mutations affecting the gene represented in this entry
  • 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
  • Hemoglobin H disease (HBH) [MIM:613978]: 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. Note=The disease is
    caused by mutations affecting the gene represented in this entry

  • 19 diseases for HBA1:    
    About MalaCards
    heinz body anemias, alpha-    vascular cancer    methemoglobinemias, alpha-    erythremias, alpha-
    thalassemias, alpha-    hemoglobin h disease, nondeletional    hb bart's hydrops fetalis    alpha-thalassemia - intellectual disability syndrome linked to chromosome 16
    bronchiolitis obliterans organizing pneumonia    autosomal dominant methemoglobinemia    hypochromic anemia    capillary hemangioma
    cryptogenic organizing pneumonia    favism    alpha thalassemia    stroke, ischemic
    hemoglobinopathy    beta thalassemia    thalassemia

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

    Find genes that share disorders with HBA1           About GenesLikeMe

    2 Novoseek inferred 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
    GeneReviews: HBA1
    Genetic Association Database (GAD): HBA1
    Human Genome Epidemiology (HuGE) Navigator: HBA1 (210 documents)

    Export disorders for HBA1 gene to outside databases

    (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)
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    PubMed articles for HBA1 gene, integrated from 10 sources (see all 479):
    (articles sorted by number of sources associating them with HBA1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Alpha-thalassemia is associated with a decreased occurrence and a delayed age-at-onset of albuminuria in sickle cell anemia patients. (PubMed id 20598923)1, 4 Nebor D....Romana M. (amp 2010)
    2. Spectrum of I+-globin gene mutations in the Kerman Province of Iran. (PubMed id 20854119)1, 4 Saleh-Gohari N. and Khosravi-Mashizi A. (Hemoglobin 2010)
    3. Rapid diagnosis of alpha-thalassemia by melting curve analysis. (PubMed id 20190015)1, 4 Munkongdee T....Svasti S. (J Mol Diagn 2010)
    4. Clustering of malaria treatment failure (TF) in Daraweesh: hints for host genetic susceptibility to TF with emphasis on immune-modulating SNPs. (PubMed id 20215002)1, 4 Giha H.A....Arnot D. (Infect. Genet. Evol. 2010)
    5. Hypocholesterolemia in adult patients with thalassemia: a link with the severity of genotype in thalassemia intermedia patients. (PubMed id 19215610)1, 4 Ricchi P....Prossomariti L. (Eur. J. Haematol. 2009)
    6. Alpha globin gene numbers: an important modifier of HbE/beta thalassemia. (PubMed id 19843387)1, 4 Sharma V....Saxena R. (Hematology 2009)
    7. Microcytic hypochromic anemia patients with thalassemia: genotyping approach. (PubMed id 19359777)1, 4 Rahim F. (Indian J Med Sci 2009)
    8. Clinical features and molecular analysis in Thai patients with HbH disease. (PubMed id 19390853)1, 4 Laosombat V....Sattayasevana B. (Ann. Hematol. 2009)
    9. Molecular spectrum of alpha-thalassemia mutations in microcytic hypochromic anemia patients from Saudi Arabia. (PubMed id 19371220)1, 4 Hellani A....Abu-Amero K.K. (Genet Test Mol Biomarkers 2009)
    10. Reduced risk of uncomplicated malaria episodes in children with alpha+-thalassemia in northeastern Tanzania. (PubMed id 18458302)1, 4 Enevold A....Vestergaard L.S. (Am. J. Trop. Med. Hyg. 2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

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

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    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/books/NBK1116/?term=HBA1[genesymbol]
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=HBA2[genesymbol]
    SHMPDhttp://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=HBA1
    Wikipedia http://en.wikipedia.org/wiki/Hemoglobin
    Protein Spotlighthttp://web.expasy.org/spotlight/back_issues/084/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    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



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