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Aliases for EDRF1 Gene

Aliases for EDRF1 Gene

  • Erythroid Differentiation Regulatory Factor 1 2 3 5
  • Erythroid Differentiation-Related Factor 1 2 3
  • C10orf137 3 4
  • Chromosome 10 Open Reading Frame 137 2

External Ids for EDRF1 Gene

Previous HGNC Symbols for EDRF1 Gene

  • C10orf137

Previous GeneCards Identifiers for EDRF1 Gene

  • GC10P127450
  • GC10P126982
  • GC10P127409

Summaries for EDRF1 Gene

Entrez Gene Summary for EDRF1 Gene

  • This gene may play a role in erythroid cell differentiation. The encoded protein inhibits DNA binding of the erythroid transcription factor GATA-1 and may regulate the expression of alpha-globin and gamma-globin. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]

GeneCards Summary for EDRF1 Gene

EDRF1 (Erythroid Differentiation Regulatory Factor 1) is a Protein Coding gene. Diseases associated with EDRF1 include Spherocytosis, Type 2.

UniProtKB/Swiss-Prot for EDRF1 Gene

  • Transcription factor involved in erythroid differentiation. Involved in transcriptional activation of the globin gene.

Additional gene information for EDRF1 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EDRF1 Gene

Genomics for EDRF1 Gene

Regulatory Elements for EDRF1 Gene

Enhancers for EDRF1 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
GH10H125767 1 Ensembl ENCODE 58.7 +49.1 49111 2 NFIB ZNF473 ZNF195 FEZF1 GLI4 ZNF776 LCORL ZNF350 EZH2 ZNF174 EDRF1 BCCIP EDRF1-AS1 ENSG00000234134 CTBP2 EEF1AKMT2 MMP21 UROS
GH10H125146 1.8 FANTOM5 Ensembl ENCODE dbSUPER 32.4 -565.0 -565019 16 PKNOX1 FOXA2 ATF1 SIN3A FEZF1 YY1 GLIS2 DEK ZNF202 SP3 EDRF1-AS1 EDRF1 CTBP2 MIR4296
GH10H125892 1 ENCODE dbSUPER 55.5 +173.2 173150 0 ZSCAN26 NFRKB DDX20 BRCA1 ZNF507 GTF3C2 FOXM1 FOXK2 TCF7L2 ZNF174 EDRF1 EDRF1-AS1 BCCIP ENSG00000234134 GC10M125891 RNU2-42P FANK1
GH10H125895 1.6 FANTOM5 ENCODE dbSUPER 34.1 +176.7 176702 2 ATF1 ARID4B SIN3A DMAP1 YY1 ETS1 ZNF121 GLIS2 RUNX3 SP3 EDRF1 BCCIP EDRF1-AS1 CTBP2 MMP21 FANK1 RNU2-42P GC10M125891
GH10H124790 1.1 ENCODE 45.5 -927.6 -927642 2 FOXA2 MLX ARID4B SIN3A DMAP1 ZBTB7B YY1 ZNF207 ZNF143 SP3 EDRF1-AS1 EDRF1 EEF1AKMT2 CTBP2 MMP21 ENSG00000258539
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around EDRF1 on UCSC Golden Path with GeneCards custom track

Promoters for EDRF1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000034943 185 2201 HDGF PKNOX1 FOXA2 MLX ZFP64 ARID4B SIN3A DMAP1 YY1 SLC30A9

Genomic Location for EDRF1 Gene

Chromosome:
10
Start:
125,719,515 bp from pter
End:
125,764,143 bp from pter
Size:
44,629 bases
Orientation:
Plus strand

Genomic View for EDRF1 Gene

Genes around EDRF1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EDRF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EDRF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EDRF1 Gene

Proteins for EDRF1 Gene

  • Protein details for EDRF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q3B7T1-EDRF1_HUMAN
    Recommended name:
    Erythroid differentiation-related factor 1
    Protein Accession:
    Q3B7T1
    Secondary Accessions:
    • B2RC65
    • Q3KR40
    • Q4G190
    • Q5VZQ4
    • Q8IZ74
    • Q9Y3W4

    Protein attributes for EDRF1 Gene

    Size:
    1238 amino acids
    Molecular mass:
    138528 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAG37462.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAH73214.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for EDRF1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EDRF1 Gene

Post-translational modifications for EDRF1 Gene

  • Ubiquitination at isoforms=3, 4, 5178 and posLast=694694
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for EDRF1 Gene

Domains & Families for EDRF1 Gene

Gene Families for EDRF1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for EDRF1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for EDRF1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with EDRF1: view

No data available for UniProtKB/Swiss-Prot for EDRF1 Gene

Function for EDRF1 Gene

Molecular function for EDRF1 Gene

UniProtKB/Swiss-Prot Function:
Transcription factor involved in erythroid differentiation. Involved in transcriptional activation of the globin gene.

Phenotypes From GWAS Catalog for EDRF1 Gene

genes like me logo Genes that share phenotypes with EDRF1: view

Animal Model Products

miRNA for EDRF1 Gene

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for EDRF1 Gene

Localization for EDRF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EDRF1 Gene

Subcellular locations from

COMPARTMENTS
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 EDRF1 gene
Compartment Confidence
nucleus 5
cytosol 3
cytoskeleton 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Centrosome (2)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for EDRF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005634 nucleus IEA --
genes like me logo Genes that share ontologies with EDRF1: view

Pathways & Interactions for EDRF1 Gene

SuperPathways for EDRF1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for EDRF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0045893 positive regulation of transcription, DNA-templated IMP 12609092
genes like me logo Genes that share ontologies with EDRF1: view

No data available for Pathways by source and SIGNOR curated interactions for EDRF1 Gene

Drugs & Compounds for EDRF1 Gene

No Compound Related Data Available

Transcripts for EDRF1 Gene

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for EDRF1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b · 9c ^ 10 ^ 11a · 11b ^ 12a · 12b · 12c ^ 13a · 13b ^ 14 ^ 15 ^ 16a · 16b ^ 17a ·
SP1: - -
SP2:
SP3:
SP4: -
SP5: -
SP6: - -
SP7:
SP8:
SP9:
SP10:

ExUns: 17b ^ 18a · 18b ^ 19a · 19b · 19c ^ 20 ^ 21 ^ 22a · 22b · 22c
SP1: -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9: -
SP10: -

Relevant External Links for EDRF1 Gene

GeneLoc Exon Structure for
EDRF1
ECgene alternative splicing isoforms for
EDRF1

Expression for EDRF1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for EDRF1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for EDRF1 Gene

This gene is overexpressed in Salivary gland (26.5), Testis (17.6), Ovary (17.6), and Adipocyte (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for EDRF1 Gene



Protein tissue co-expression partners for EDRF1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of EDRF1 Gene:

EDRF1

Evidence on tissue expression from TISSUES for EDRF1 Gene

  • Blood(4)
  • Nervous system(2.2)
genes like me logo Genes that share expression patterns with EDRF1: view

Primer Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for EDRF1 Gene

Orthologs for EDRF1 Gene

This gene was present in the common ancestor of animals.

Orthologs for EDRF1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EDRF1 34
  • 100 (a)
OneToOne
C10H10orf137 33
  • 99.57 (n)
dog
(Canis familiaris)
Mammalia EDRF1 34
  • 96 (a)
OneToOne
C28H10orf137 33
  • 91.56 (n)
cow
(Bos Taurus)
Mammalia EDRF1 34
  • 95 (a)
OneToOne
C26H10orf137 33
  • 90.32 (n)
mouse
(Mus musculus)
Mammalia 2700050L05Rik 34
  • 93 (a)
OneToOne
Edrf1 33 16
  • 88.04 (n)
oppossum
(Monodelphis domestica)
Mammalia EDRF1 34
  • 88 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia RGD1306820 33
  • 87.95 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia EDRF1 34
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves EDRF1 34
  • 85 (a)
OneToOne
C6H10ORF137 33
  • 79.73 (n)
lizard
(Anolis carolinensis)
Reptilia EDRF1 34
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100497935 33
  • 72.05 (n)
zebrafish
(Danio rerio)
Actinopterygii EDRF1 34
  • 69 (a)
OneToOne
LOC566404 33
  • 65.99 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG6511 33 34
  • 47.76 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001324 33
  • 46.99 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 50 (a)
OneToOne
Species where no ortholog for EDRF1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • 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 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for EDRF1 Gene

ENSEMBL:
Gene Tree for EDRF1 (if available)
TreeFam:
Gene Tree for EDRF1 (if available)

Paralogs for EDRF1 Gene

No data available for Paralogs for EDRF1 Gene

Variants for EDRF1 Gene

Sequence variations from dbSNP and Humsavar for EDRF1 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs143528650 A colorectal cancer sample 125,721,229(+) AGGCA(A/G)TGAAG nc-transcript-variant, upstream-variant-2KB, reference, missense, utr-variant-5-prime
VAR_035863 A colorectal cancer sample
rs1000000908 -- 125,752,575(+) CAAAA(C/T)CAAAT intron-variant, upstream-variant-2KB
rs1000068356 -- 125,760,141(+) GATAC(C/T)GCATA intron-variant
rs1000275734 -- 125,733,870(+) ATACA(C/T)GTACA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for EDRF1 Gene

Variant ID Type Subtype PubMed ID
nsv1140117 CNV insertion 24896259
nsv467476 CNV loss 19166990
nsv552293 CNV loss 21841781
nsv832017 CNV loss 17160897

Variation tolerance for EDRF1 Gene

Residual Variation Intolerance Score: 1.91% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.71; 73.16% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for EDRF1 Gene

Human Gene Mutation Database (HGMD)
EDRF1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
EDRF1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EDRF1 Gene

Disorders for EDRF1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for EDRF1 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
spherocytosis, type 2
  • hereditary spherocytosis type 2
- elite association - COSMIC cancer census association via MalaCards
Search EDRF1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for EDRF1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EDRF1
genes like me logo Genes that share disorders with EDRF1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for EDRF1 Gene

Publications for EDRF1 Gene

  1. A novel erythroid differentiation related gene EDRF1 upregulating globin gene expression in HEL cells. (PMID: 12609092) Wang D … Shen B (Chinese medical journal 2002) 2 3 4 22 60
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  3. 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 60
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60
  5. An organelle-specific protein landscape identifies novel diseases and molecular mechanisms. (PMID: 27173435) Boldt K … UK10K Rare Diseases Group (Nature communications 2016) 3 60

Products for EDRF1 Gene

Sources for EDRF1 Gene

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