This locus represents an enhancer that is present downstream of the beta-globin gene cluster on chromosome 11 (with respect to the direction of beta-globin gene transcription). It is immediately downstream of the 3' breakpoint of a deletion found in patients with hereditary persistence of fetal hemoglobin-3 (HPFH-3), and is also close to the 3' breakpoint of the HPFH-4 deletion... See more...

Aliases for LOC110008579 Gene

Aliases for LOC110008579 Gene

  • Hereditary Persistence Of Fetal Hemoglobin-3 3' Breakpoint Enhancer 3
  • 3' Beta LTR Enhancer 3
  • HPFH-3 3' Enhancer 3

External Ids for LOC110008579 Gene

Summaries for LOC110008579 Gene

Entrez Gene Summary for LOC110008579 Gene

  • This locus represents an enhancer that is present downstream of the beta-globin gene cluster on chromosome 11 (with respect to the direction of beta-globin gene transcription). It is immediately downstream of the 3' breakpoint of a deletion found in patients with hereditary persistence of fetal hemoglobin-3 (HPFH-3), and is also close to the 3' breakpoint of the HPFH-4 deletion, where both deletions remove the adult beta-globin genes (HBD and HBB) and a 3' DNase I hypersensitive site 1 (3'HS1). In these deletions, it is thought that the juxtaposition of this enhancer next to the fetal gamma-globin genes (HBG1 and HBG2) is responsible for the persistent expression of the fetal globin genes in adult blood. Experiments in transfected cells and transgenic mice show that this enhancer can activate gamma-globin gene expression, but not when 3'HS1, which contains enhancer-blocking activity, is present between this enhancer and the gamma-globin promoter. This enhancer also corresponds to a retroviral LTR element, and it is similar to the ERV-9 retroviral enhancer found at the 5' end of the beta-globin locus, just upstream of 5'HS5 in the locus control region. [provided by RefSeq, Apr 2017]

GeneCards Summary for LOC110008579 Gene

LOC110008579 (Hereditary Persistence Of Fetal Hemoglobin-3 3' Breakpoint Enhancer) is a Biological Region gene.

Additional gene information for LOC110008579 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for LOC110008579 Gene

Genomics for LOC110008579 Gene

Genomic Locations for LOC110008579 Gene

Genomic Locations for LOC110008579 Gene
chr11:-
(GRCh38/hg38)
Orientation:
Unknown strand

Genomic View for LOC110008579 Gene


Cytogenetic band:
GeneLoc Logo Gene Density

RefSeq DNA sequence for LOC110008579 Gene

No data available for GeneHancer (GH) Regulatory Elements for LOC110008579 Gene

Proteins for LOC110008579 Gene

Post-translational modifications for LOC110008579 Gene

No Post-translational modifications

No data available for DME Specific Peptides for LOC110008579 Gene

Domains & Families for LOC110008579 Gene

No data available for Gene Families , Protein Domains , Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for LOC110008579 Gene

Function for LOC110008579 Gene

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for LOC110008579 Gene

Localization for LOC110008579 Gene

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for LOC110008579 Gene

Pathways & Interactions for LOC110008579 Gene

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SuperPathways for LOC110008579 Gene

No Data Available
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Gene Ontology (GO) - Biological Process for LOC110008579 Gene

None

No data available for Pathways by source , Interacting Proteins and SIGNOR curated interactions for LOC110008579 Gene

Drugs & Compounds for LOC110008579 Gene

No Compound Related Data Available

Transcripts for LOC110008579 Gene

Alternative Splicing Database (ASD) splice patterns (SP) for LOC110008579 Gene

No ASD Table

No data available for mRNA/cDNA for LOC110008579 Gene

Expression for LOC110008579 Gene

No Expression Related Data Available

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for LOC110008579 Gene

Orthologs for LOC110008579 Gene

No data available for Orthologs and Evolution for LOC110008579 Gene

Paralogs for LOC110008579 Gene

No data available for Paralogs for LOC110008579 Gene

Variants for LOC110008579 Gene

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP , Additional dbSNP identifiers (rs#s) , Structural Variations from Database of Genomic Variants (DGV) , Variation tolerance and Additional Variant Information for LOC110008579 Gene

Disorders for LOC110008579 Gene

No disorders were found for LOC110008579 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot , Genatlas and External Links for LOC110008579 Gene

Publications for LOC110008579 Gene

  1. Molecular mechanism of high hemoglobin F production in Southeast Asian-type hereditary persistence of fetal hemoglobin. (PMID: 16720553) Changsri K … Fucharoen S (International journal of hematology 2006) 3 54
  2. Persistent gamma-globin expression in adult transgenic mice is mediated by HPFH-2, HPFH-3, and HPFH-6 breakpoint sequences. (PMID: 12855570) Katsantoni EZ … Strouboulis J (Blood 2003) 3 54
  3. A long terminal repeat of the human endogenous retrovirus ERV-9 is located in the 5' boundary area of the human beta-globin locus control region. (PMID: 9878258) Long Q … Tuan D (Genomics 1998) 3 54
  4. Molecular basis of hereditary persistence of fetal hemoglobin. (PMID: 9668525) Forget BG (Annals of the New York Academy of Sciences 1998) 3 54
  5. Sequences located 3' to the breakpoint of the hereditary persistence of fetal hemoglobin-3 deletion exhibit enhancer activity and can modify the developmental expression of the human fetal A gamma-globin gene in transgenic mice. (PMID: 7537267) Anagnou NP … Stamatoyannopoulos G (The Journal of biological chemistry 1995) 3 54

No data available for Mastermind for LOC110008579 Gene

Products for LOC110008579 Gene

Sources for LOC110008579 Gene