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Aliases for HBQ1 Gene

Aliases for HBQ1 Gene

  • Hemoglobin Subunit Theta 1 2 3 5
  • Hemoglobin Theta-1 Chain 3 4
  • Hemoglobin, Theta 1 2 3
  • Theta-1-Globin 3 4
  • Hemoglobin Subunit Theta-1 3
  • HBQ 3

External Ids for HBQ1 Gene

Previous GeneCards Identifiers for HBQ1 Gene

  • GC16P000249
  • GC16P000170
  • GC16P000245
  • GC16P000149
  • GC16P000254
  • GC16P000256
  • GC16P000260
  • GC16P000264
  • GC16P000268
  • GC16P000283
  • GC16P000297
  • GC16P000198
  • GC16P000208
  • GC16P000219
  • GC16P000337
  • GC16P000331
  • GC16P000366
  • GC16P000398
  • GC16P000426

Summaries for HBQ1 Gene

Entrez Gene Summary for HBQ1 Gene

  • Theta-globin mRNA is found in human fetal erythroid tissue but not in adult erythroid or other nonerythroid tissue. The theta-1 gene may be expressed very early in embryonic life, perhaps sometime before 5 weeks. Theta-1 is a member of the human alpha-globin gene cluster that involves five functional genes and two pseudogenes. The order of genes is: 5' - zeta - pseudozeta - mu - pseudoalpha-2 -pseudoalpha-1 - alpha-2 - alpha-1 - theta-1 - 3'. Research supports a transcriptionally active role for the gene and a functional role for the peptide in specific cells, possibly those of early erythroid tissue. [provided by RefSeq, Jul 2008]

GeneCards Summary for HBQ1 Gene

HBQ1 (Hemoglobin Subunit Theta 1) is a Protein Coding gene. Diseases associated with HBQ1 include Hemoglobin D Disease. Gene Ontology (GO) annotations related to this gene include iron ion binding and oxygen binding. An important paralog of this gene is HBA2.

Gene Wiki entry for HBQ1 Gene

Additional gene information for HBQ1 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HBQ1 Gene

Genomics for HBQ1 Gene

GeneHancer (GH) Regulatory Elements for HBQ1 Gene

Promoters and enhancers for HBQ1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16J000180 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE 650.7 +0.8 765 1.9 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 CBX5 ZNF207 ZNF143 HBQ1 WDR90 RHOT2 WASH4P WDR24 ENSG00000268836 JMJD8 LUC7L ENSG00000269482 CHTF18
GH16J000104 Enhancer 1.2 FANTOM5 ENCODE dbSUPER 6.7 -75.6 -75552 1 HDAC1 TEAD4 TAL1 MAX YY1 TCF12 ZNF316 GATA2 NCOR1 ZFP91 HBM ENSG00000228779 NPRL3 HBZ MPG RHBDF1 HBQ1 SNRNP25 NHLRC4 GC16P000135
GH16J000144 Enhancer 1.1 FANTOM5 dbSUPER 6.3 -37.2 -37178 0.3 SMAD1 ARNT TCF12 ZNF766 GATA2 NCOA1 ZNF592 MBD2 SMARCA4 MYNN HBZ HBM LOC100129478 LUC7L FAM234A HBQ1 NHLRC4 GC16M000144 GC16P000135
GH16J000033 Enhancer 1.2 FANTOM5 Ensembl ENCODE 2.3 -145.3 -145317 2.4 HDGF ZSCAN4 SIN3A ZNF2 SCRT2 ATF7 FOS ZNF114 CEBPB ELF1 ENSG00000260803 IL9RP3 LUC7L SNRNP25 ENSG00000228779 LMF1 ENSG00000262528 WDR90 LOC105371184 METTL26
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HBQ1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the HBQ1 gene promoter:
  • AP-1
  • c-Jun
  • ATF-2
  • HNF-4alpha2
  • HNF-4alpha1
  • STAT1beta
  • STAT1
  • STAT1alpha
  • MAZR
  • LCR-F1

Genomic Locations for HBQ1 Gene

Genomic Locations for HBQ1 Gene
848 bases
Plus strand
848 bases
Plus strand

Genomic View for HBQ1 Gene

Genes around HBQ1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HBQ1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HBQ1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HBQ1 Gene

Proteins for HBQ1 Gene

  • Protein details for HBQ1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Hemoglobin subunit theta-1
    Protein Accession:
    Secondary Accessions:
    • Q13723
    • Q1W6G5

    Protein attributes for HBQ1 Gene

    142 amino acids
    Molecular mass:
    15508 Da
    Quaternary structure:
    No Data Available

neXtProt entry for HBQ1 Gene

Post-translational modifications for HBQ1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for HBQ1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for HBQ1 Gene

Domains & Families for HBQ1 Gene

Gene Families for HBQ1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for HBQ1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the globin family.
  • Belongs to the globin family.
genes like me logo Genes that share domains with HBQ1: view

Function for HBQ1 Gene

Molecular function for HBQ1 Gene

GENATLAS Biochemistry:
hemoglobin,theta 1,embryonic

Phenotypes From GWAS Catalog for HBQ1 Gene

Gene Ontology (GO) - Molecular Function for HBQ1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005344 oxygen carrier activity IEA --
GO:0005506 iron ion binding IEA --
GO:0005515 protein binding IPI 25416956
GO:0019825 oxygen binding IEA --
GO:0020037 heme binding IEA --
genes like me logo Genes that share ontologies with HBQ1: view
genes like me logo Genes that share phenotypes with HBQ1: view

Animal Model Products

CRISPR Products

miRNA for HBQ1 Gene

miRTarBase miRNAs that target HBQ1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HBQ1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for HBQ1 Gene

Localization for HBQ1 Gene

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HBQ1 gene
Compartment Confidence
cytosol 5
nucleus 2
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Lipid droplets (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for HBQ1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005833 hemoglobin complex IEA,TAS --
genes like me logo Genes that share ontologies with HBQ1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for HBQ1 Gene

Pathways & Interactions for HBQ1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for HBQ1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015671 oxygen transport TAS,IEA --
genes like me logo Genes that share ontologies with HBQ1: view

No data available for Pathways by source and SIGNOR curated interactions for HBQ1 Gene

Drugs & Compounds for HBQ1 Gene

(1) Drugs for HBQ1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
heme Pharma Agonist 0
genes like me logo Genes that share compounds with HBQ1: view

Transcripts for HBQ1 Gene

mRNA/cDNA for HBQ1 Gene

(1) REFSEQ mRNAs :
(1) Additional mRNA sequences :
(10) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for HBQ1 Gene

Hemoglobin, theta 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HBQ1

Alternative Splicing Database (ASD) splice patterns (SP) for HBQ1 Gene

No ASD Table

Relevant External Links for HBQ1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for HBQ1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for HBQ1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HBQ1 Gene

This gene is overexpressed in Whole Blood (x43.5).

Protein differential expression in normal tissues from HIPED for HBQ1 Gene

This gene is overexpressed in Fetal Liver (18.2), Cervix (11.6), Fetal Brain (8.2), and Thyroid (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for HBQ1 Gene

NURSA nuclear receptor signaling pathways regulating expression of HBQ1 Gene:


SOURCE GeneReport for Unigene cluster for HBQ1 Gene:


Evidence on tissue expression from TISSUES for HBQ1 Gene

  • Liver(4.1)
  • Blood(2.2)
genes like me logo Genes that share expression patterns with HBQ1: view

No data available for Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for HBQ1 Gene

Orthologs for HBQ1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for HBQ1 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia HBQ1 34 33
  • 80.54 (n)
(Mus musculus)
Mammalia Hbq1b 16 34 33
  • 75.35 (n)
Hbq1a 34
  • 66 (a)
(Rattus norvegicus)
Mammalia Hbq1b 33
  • 74.65 (n)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 62 (a)
-- 34
  • 43 (a)
(Monodelphis domestica)
Mammalia HBA 34
  • 45 (a)
(Gallus gallus)
Aves HBAA 34
  • 49 (a)
(Danio rerio)
Actinopterygii HBQ1 34
  • 41 (a)
Species where no ortholog for HBQ1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for HBQ1 Gene

Gene Tree for HBQ1 (if available)
Gene Tree for HBQ1 (if available)
Evolutionary constrained regions (ECRs) for HBQ1: view image

Paralogs for HBQ1 Gene

Paralogs for HBQ1 Gene

(10) SIMAP similar genes for HBQ1 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with HBQ1: view

Variants for HBQ1 Gene

Sequence variations from dbSNP and Humsavar for HBQ1 Gene

SNP ID Clin Chr 16 pos Variation AA Info Type
rs1000984958 -- 181,378(+) A/G downstream_transcript_variant
rs1002414361 -- 178,925(+) AAAAAAAAA/AAAAAAAAAA upstream_transcript_variant
rs1002672675 -- 179,716(+) A/G upstream_transcript_variant
rs1002747324 -- 178,719(+) G/A upstream_transcript_variant
rs1002823969 -- 181,088(+) C/G coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for HBQ1 Gene

Variant ID Type Subtype PubMed ID
dgv2690n100 CNV gain 25217958
esv2422427 CNV duplication 17116639
esv2662940 CNV deletion 23128226
esv3637547 CNV loss 21293372
esv3637549 CNV loss 21293372
esv3637550 CNV loss 21293372
esv3892753 CNV loss 25118596
nsv1044142 CNV gain 25217958
nsv1698 CNV deletion 18451855
nsv518291 CNV loss 19592680
nsv519528 CNV loss 19592680
nsv827473 CNV gain 20364138

Variation tolerance for HBQ1 Gene

Gene Damage Index Score: 2.07; 37.87% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HBQ1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HBQ1 Gene

Disorders for HBQ1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for HBQ1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
hemoglobin d disease
  • hb-d disease
- elite association - COSMIC cancer census association via MalaCards
Search HBQ1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for HBQ1

genes like me logo Genes that share disorders with HBQ1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for HBQ1 Gene

Publications for HBQ1 Gene

  1. A regulatory SNP causes a human genetic disease by creating a new transcriptional promoter. (PMID: 16728641) De Gobbi M … Higgs DR (Science (New York, N.Y.) 2006) 3 4 58
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  3. Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16. (PMID: 11157797) Daniels RJ … Higgs DR (Human molecular genetics 2001) 3 4 58
  4. A review of the molecular genetics of the human alpha-globin gene cluster. (PMID: 2649166) Higgs DR … Weatherall DJ (Blood 1989) 2 3 58
  5. Unique sequence organization and erythroid cell-specific nuclear factor-binding of mammalian theta 1 globin promoters. (PMID: 2569721) Kim JH … Shen CK (Nucleic acids research 1989) 3 4 58

Products for HBQ1 Gene

Sources for HBQ1 Gene

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