This region represents a conserved enhancer element located in a 5' intron of the runt related transcription factor 1 (RUNX1) gene. The corresponding sequence in mouse drives expression of Runx1 in the hemetopoietic cell lineage. A sub-region of the human element was also validated as a functional enhancer by high-throughput massively parallel reporter assays (MPRAs) in K562 er... See more...

Aliases for LOC109648314 Gene

Aliases for LOC109648314 Gene

  • RUNX1 Enhancer RE1 3
  • Massively Parallel Reporter Assay Enhancer 44 3
  • GATA Motif-Containing MPRA Enhancer 44 3
  • RUNX1 Intronic Hemetopoietic Enhancer 3
  • GATA Activator MPRA Enhancer 44 3
  • RUNX1 +24 Enhancer 3

External Ids for LOC109648314 Gene

Summaries for LOC109648314 Gene

Entrez Gene Summary for LOC109648314 Gene

  • This region represents a conserved enhancer element located in a 5' intron of the runt related transcription factor 1 (RUNX1) gene. The corresponding sequence in mouse drives expression of Runx1 in the hemetopoietic cell lineage. A sub-region of the human element was also validated as a functional enhancer by high-throughput massively parallel reporter assays (MPRAs) in K562 erythroleukemia cells. This sub-region contains a conserved motif for a GATA activator, and mutation of the motif results in reduced enhancer activity. This genomic region was shown to have physical interactions with both the RUNX1 P1 and P2 promoters as well as a conserved sequence in intron 5. [provided by RefSeq, Nov 2017]

GeneCards Summary for LOC109648314 Gene

LOC109648314 (RUNX1 Enhancer RE1) is a Biological Region gene.

Additional gene information for LOC109648314 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 LOC109648314 Gene

Genomics for LOC109648314 Gene

Genomic Locations for LOC109648314 Gene

Genomic Locations for LOC109648314 Gene
chr21:-
(GRCh38/hg38)
Orientation:
Unknown strand

Genomic View for LOC109648314 Gene

RefSeq DNA sequence for LOC109648314 Gene

No data available for GeneHancer (GH) Regulatory Elements and Cytogenetic band for LOC109648314 Gene

Proteins for LOC109648314 Gene

Post-translational modifications for LOC109648314 Gene

No Post-translational modifications

No data available for DME Specific Peptides for LOC109648314 Gene

Domains & Families for LOC109648314 Gene

No data available for Gene Families , Protein Domains , Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for LOC109648314 Gene

Function for LOC109648314 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 LOC109648314 Gene

Localization for LOC109648314 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 LOC109648314 Gene

Pathways & Interactions for LOC109648314 Gene

PathCards logo

SuperPathways for LOC109648314 Gene

No Data Available
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Gene Ontology (GO) - Biological Process for LOC109648314 Gene

None

No data available for Pathways by source , Interacting Proteins and SIGNOR curated interactions for LOC109648314 Gene

Drugs & Compounds for LOC109648314 Gene

No Compound Related Data Available

Transcripts for LOC109648314 Gene

Alternative Splicing Database (ASD) splice patterns (SP) for LOC109648314 Gene

No ASD Table

No data available for mRNA/cDNA for LOC109648314 Gene

Expression for LOC109648314 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 LOC109648314 Gene

Orthologs for LOC109648314 Gene

No data available for Orthologs and Evolution for LOC109648314 Gene

Paralogs for LOC109648314 Gene

No data available for Paralogs for LOC109648314 Gene

Variants for LOC109648314 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 LOC109648314 Gene

Disorders for LOC109648314 Gene

No disorders were found for LOC109648314 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot , Genatlas and External Links for LOC109648314 Gene

Publications for LOC109648314 Gene

  1. The RUNX1 +24 enhancer and P1 promoter identify a unique subpopulation of hematopoietic progenitor cells derived from human pluripotent stem cells. (PMID: 25546363) Ferrell PI … Kaufman DS (Stem cells (Dayton, Ohio) 2015) 3 54
  2. Systematic dissection of regulatory motifs in 2000 predicted human enhancers using a massively parallel reporter assay. (PMID: 23512712) Kheradpour P … Kellis M (Genome research 2013) 3 54
  3. Mapping and analysis of chromatin state dynamics in nine human cell types. (PMID: 21441907) Ernst J … Bernstein BE (Nature 2011) 3 54
  4. Transcriptional regulation and spatial organisation of the human AML1/RUNX1 gene. (PMID: 21445863) Markova EN … Razin SV (Journal of cellular biochemistry 2011) 3 54
  5. The DNA sequence of human chromosome 21. (PMID: 10830953) Hattori M … Chromosome 21 mapping and sequencing consortium (Nature 2000) 3 54

No data available for Mastermind for LOC109648314 Gene

Products for LOC109648314 Gene

Sources for LOC109648314 Gene