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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

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 and Thalassemias, Alpha-. 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

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

Genomics for HBQ1 Gene

Regulatory Elements for HBQ1 Gene

Enhancers for HBQ1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH16F000104 1.2 FANTOM5 ENCODE 6.6 -75.6 -75552 1.0 HDGF ATF1 GLI4 ZNF2 YY1 GLIS2 GATA2 SP3 SMARCA4 GLIS1 HBM ENSG00000228779 NPRL3 HBZ MPG RHBDF1 HBQ1 SNRNP25 NHLRC4 GC16P000121
GH16F000144 0.3 FANTOM5 6.3 -37.2 -37179 0.3 HDAC1 TBL1XR1 GATA2 CREM ZBTB11 ZEB2 MBD2 KLF16 SMARCA4 MYNN HBM LOC100129478 LUC7L FAM234A HBQ1 NHLRC4 HBZ GC16M000144
GH16F000033 1.4 FANTOM5 Ensembl ENCODE 2.3 -143.6 -143628 6.2 HDGF PKNOX1 TBL1XR1 SIN3A KLF17 BMI1 ZNF2 EGR1 SCRT2 ETV6 IL9RP3 SNRNP25 LUC7L HBA1 HBA2 HBQ1 AXIN1 ENSG00000260803
GH16F000180 0.2 ENCODE 0.8 +1.0 1013 1.5 CREB3L1 MLX ARID4B SIN3A DMAP1 ZNF2 SLC30A9 CBX5 ZNF143 ZNF207 LOC105371038 RHOT2 ENSG00000260022 HBM HBZ ENSG00000268836 JMJD8 WASH4P PIGQ HBQ1
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around HBQ1 on UCSC Golden Path with GeneCards custom track

Promoters for HBQ1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001798816 66 401 BCOR CTCF TBL1XR1 SUZ12 CREB3L1 ZMYM3 ZNF140 UBTF RAD21 HBP1
ENSR00001798817 566 201 CTCF RNF2 SUZ12 L3MBTL2 NRF1 SIN3A UBTF REST TFDP1 POLR2A
ENSR00000147076 1166 201 CREB3L1 MLX ARID4B SIN3A DMAP1 ZNF2 SLC30A9 CBX5 ZNF143 ZNF207

Genomic Location for HBQ1 Gene

Chromosome:
16
Start:
180,334 bp from pter
End:
181,181 bp from pter
Size:
848 bases
Orientation:
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:
    P09105-HBAT_HUMAN
    Recommended name:
    Hemoglobin subunit theta-1
    Protein Accession:
    P09105
    Secondary Accessions:
    • Q13723
    • Q1W6G5

    Protein attributes for HBQ1 Gene

    Size:
    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

Suggested Antigen Peptide Sequences for HBQ1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P09105

UniProtKB/Swiss-Prot:

HBAT_HUMAN :
  • Belongs to the globin family.
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

Gene Ontology (GO) - Molecular Function for HBQ1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005344 oxygen transporter 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

miRNA for HBQ1 Gene

miRTarBase miRNAs that target HBQ1

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

COMPARTMENTS
Jensen Localization Image for HBQ1 Gene COMPARTMENTS Subcellular localization image for HBQ1 gene
Compartment Confidence
cytosol 5
nucleus 2
extracellular 1

Gene Ontology (GO) - Cellular Components for HBQ1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005833 hemoglobin complex IEA --
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

SuperPathways for HBQ1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for HBQ1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0015671 oxygen transport 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:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

No ASD Table

Relevant External Links for HBQ1 Gene

GeneLoc Exon Structure for
HBQ1
ECgene alternative splicing isoforms for
HBQ1

Expression for HBQ1 Gene

mRNA expression in normal human tissues 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, PaxDb, MaxQB, and MOPED for HBQ1 Gene



NURSA nuclear receptor signaling pathways regulating expression of HBQ1 Gene:

HBQ1

SOURCE GeneReport for Unigene cluster for HBQ1 Gene:

Hs.247921
genes like me logo Genes that share expression patterns with HBQ1: view

Primer Products

No data available for Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt 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
cow
(Bos Taurus)
Mammalia HBQ1 34 35
  • 80.54 (n)
mouse
(Mus musculus)
Mammalia Hbq1b 34 16 35
  • 75.35 (n)
Hbq1a 35
  • 66 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Hbq1b 34
  • 74.65 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 62 (a)
ManyToMany
-- 35
  • 43 (a)
ManyToMany
oppossum
(Monodelphis domestica)
Mammalia HBA 35
  • 45 (a)
OneToMany
chicken
(Gallus gallus)
Aves HBAA 35
  • 49 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii HBQ1 35
  • 41 (a)
OneToMany
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

ENSEMBL:
Gene Tree for HBQ1 (if available)
TreeFam:
Gene Tree for HBQ1 (if available)

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 Sequence Context AA Info Type
rs1005364 -- 180,482(+) CAGCG(C/G)GGGGA utr-variant-5-prime
rs111543239 -- 181,150(+) TTCCC(A/C)GTGTT utr-variant-3-prime
rs111856736 -- 179,190(+) AGAGG(C/T)TGCAG upstream-variant-2KB
rs112483563 -- 181,393(+) GACGC(C/T)CCGGG downstream-variant-500B
rs113281780 -- 181,594(+) CGAGC(C/G)GGTAC downstream-variant-500B

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)

Relevant External Links for HBQ1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
HBQ1

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

Disorders for HBQ1 Gene

MalaCards: The human disease database

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

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

Relevant External Links for HBQ1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 D.R. (Science 2006) 3 4 64
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  3. Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16. (PMID: 11157797) Daniels R.J. … Higgs D.R. (Hum. Mol. Genet. 2001) 3 4 64
  4. A review of the molecular genetics of the human alpha-globin gene cluster. (PMID: 2649166) Higgs D.R. … Weatherall D.J. (Blood 1989) 2 3 64
  5. Unique sequence organization and erythroid cell-specific nuclear factor-binding of mammalian theta 1 globin promoters. (PMID: 2569721) Kim J.H. … Shen C.-K.J. (Nucleic Acids Res. 1989) 3 4 64

Products for HBQ1 Gene

Sources for HBQ1 Gene

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