Aliases for ECD Gene

Aliases for ECD Gene

  • Ecdysoneless Cell Cycle Regulator 2 3 5
  • HSGT1 2 3 4
  • Protein Ecdysoneless Homolog 3 4
  • Human Suppressor Of GCR Two 3 4
  • GCR2 2 3
  • Ecdysoneless Homolog (Drosophila) 2
  • Suppressor Of S. Cerevisiae Gcr2 3
  • Ecdysoneless Homolog 3
  • Suppressor Of GCR2 3
  • Protein SGT1 3
  • SGT1 3
  • ECD 5

External Ids for ECD Gene

Previous GeneCards Identifiers for ECD Gene

  • GC10M074563
  • GC10M074889
  • GC10M068888

Summaries for ECD Gene

GeneCards Summary for ECD Gene

ECD (Ecdysoneless Cell Cycle Regulator) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include transcription coactivator activity.

UniProtKB/Swiss-Prot Summary for ECD Gene

  • Regulator of p53/TP53 stability and function. Inhibits MDM2-mediated degradation of p53/TP53 possibly by cooperating in part with TXNIP (PubMed:16849563, PubMed:23880345). May be involved transcriptional regulation. In vitro has intrinsic transactivation activity enhanced by EP300. May be a transcriptional activator required for the expression of glycolytic genes (PubMed:19919181, PubMed:9928932). Involved in regulation of cell cycle progression. Proposed to disrupt Rb-E2F binding leading to transcriptional activation of E2F proteins (PubMed:19640839). The cell cycle -regulating function may depend on its RUVBL1-mediated association with the R2TP complex (PubMed:26711270). May play a role in regulation of pre-mRNA splicing (PubMed:24722212).

Gene Wiki entry for ECD Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ECD Gene

Genomics for ECD Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ECD Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ECD on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ECD

Top Transcription factor binding sites by QIAGEN in the ECD gene promoter:
  • ATF
  • ATF-2
  • GATA-1
  • p53
  • Pax-4a
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)

Genomic Locations for ECD Gene

Genomic Locations for ECD Gene
chr10:73,130,155-73,169,055
(GRCh38/hg38)
Size:
38,901 bases
Orientation:
Minus strand
chr10:74,889,913-74,928,813
(GRCh37/hg19)
Size:
38,901 bases
Orientation:
Minus strand

Genomic View for ECD Gene

Genes around ECD on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for ECD Gene

Proteins for ECD Gene

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

    Protein Symbol:
    O95905-ECD_HUMAN
    Recommended name:
    Protein ecdysoneless homolog
    Protein Accession:
    O95905
    Secondary Accessions:
    • C9JX46
    • E9PAW8

    Protein attributes for ECD Gene

    Size:
    644 amino acids
    Molecular mass:
    72758 Da
    Quaternary structure:
    • Interacts with TP53, MDM2, TXNIP (PubMed:16849563, PubMed:23880345). Interacts (phosphorylated) with PIH1D1. Interacts with RUVBL1 mediating the PIH1D1-independent association with the R2TP complex (PubMed:24656813, PubMed:26711270). Interacts with RB1, RBL1 and RBL2; ECD competes with E2F1 for binding to hypophospshorylated RB1 (PubMed:19640839). Interacts with EP300 (PubMed:19919181).

    Alternative splice isoforms for ECD Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ECD Gene

Post-translational modifications for ECD Gene

  • Phosphorylated predominantly by CK2 on two serine-containing clusters; involved in cell cycle regulation activity.
  • Ubiquitination at Lys347
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ECD Gene

Domains & Families for ECD Gene

Gene Families for ECD Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for ECD Gene

InterPro:
Blocks:
  • SGT1
ProtoNet:

Suggested Antigen Peptide Sequences for ECD Gene

GenScript: Design optimal peptide antigens:
  • HSGT1 protein (Q6I9U8_HUMAN)
  • Suppressor of GCR2 (SGT1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O95905

UniProtKB/Swiss-Prot:

ECD_HUMAN :
  • Belongs to the ECD family.
Family:
  • Belongs to the ECD family.
genes like me logo Genes that share domains with ECD: view

Function for ECD Gene

Molecular function for ECD Gene

UniProtKB/Swiss-Prot Function:
Regulator of p53/TP53 stability and function. Inhibits MDM2-mediated degradation of p53/TP53 possibly by cooperating in part with TXNIP (PubMed:16849563, PubMed:23880345). May be involved transcriptional regulation. In vitro has intrinsic transactivation activity enhanced by EP300. May be a transcriptional activator required for the expression of glycolytic genes (PubMed:19919181, PubMed:9928932). Involved in regulation of cell cycle progression. Proposed to disrupt Rb-E2F binding leading to transcriptional activation of E2F proteins (PubMed:19640839). The cell cycle -regulating function may depend on its RUVBL1-mediated association with the R2TP complex (PubMed:26711270). May play a role in regulation of pre-mRNA splicing (PubMed:24722212).

Phenotypes From GWAS Catalog for ECD Gene

Gene Ontology (GO) - Molecular Function for ECD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 23880345
GO:0035035 histone acetyltransferase binding IDA 19919181
genes like me logo Genes that share ontologies with ECD: view
genes like me logo Genes that share phenotypes with ECD: view

Animal Models for ECD Gene

MGI Knock Outs for ECD:
  • Ecd Ecd<tm1.1Viba>

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

Localization for ECD Gene

Subcellular locations from UniProtKB/Swiss-Prot for ECD Gene

Cytoplasm. Nucleus. Note=Predominantly is located in the cytoplasm. {ECO:0000269 PubMed:16849563, ECO:0000269 PubMed:19919181, ECO:0000269 PubMed:26711270}.

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 ECD gene
Compartment Confidence
nucleus 5
cytosol 5
plasma membrane 2
extracellular 1
cytoskeleton 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ECD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA,IDA 19919181
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA,IDA 19919181
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with ECD: view

Pathways & Interactions for ECD Gene

PathCards logo

SuperPathways for ECD Gene

No Data Available

Gene Ontology (GO) - Biological Process for ECD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006397 mRNA processing IEA --
GO:0008283 cell proliferation IEA --
GO:0008380 RNA splicing IEA --
GO:0045944 positive regulation of transcription by RNA polymerase II IDA 19919181
GO:2000045 regulation of G1/S transition of mitotic cell cycle IEA --
genes like me logo Genes that share ontologies with ECD: view

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

Drugs & Compounds for ECD Gene

(27) Drugs for ECD Gene - From: ClinicalTrials

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Clotrimazole Approved, Vet_approved Pharma Pore Blocker, Inhibition, Agonist, Antagonist, Channel blocker, Gating inhibitor 3024
Everolimus Approved Pharma mTOR inhibitor, mTOR Inhibitors, Kinase Inhibitors, Mammalian target of rapamycin (mTOR) inhibitors 1037
Methylprednisolone Approved, Vet_approved Pharma Apoptosis inducer,GR agonist, Glucocorticoid receptor agonist 1553
Methylprednisolone hemisuccinate Approved Pharma 1553
Miconazole Approved, Investigational, Vet_approved Pharma Channel blocker, Pore Blocker, Antagonist 3024
genes like me logo Genes that share compounds with ECD: view

Transcripts for ECD Gene

mRNA/cDNA for ECD Gene

3 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

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

ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15
SP1:
SP2: - -
SP3: -
SP4: - - -

Relevant External Links for ECD Gene

GeneLoc Exon Structure for
ECD

Expression for ECD Gene

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

Protein differential expression in normal tissues from HIPED for ECD Gene

This gene is overexpressed in Testis (21.1), Pancreas (18.7), and Ovary (6.7).

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



Protein tissue co-expression partners for ECD Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ECD

SOURCE GeneReport for Unigene cluster for ECD Gene:

Hs.631822

mRNA Expression by UniProt/SwissProt for ECD Gene:

O95905-ECD_HUMAN
Tissue specificity: Highly expressed in muscle and heart. Over-expressed in pancreatic and breast cancers.

Evidence on tissue expression from TISSUES for ECD Gene

  • Nervous system(4.7)
  • Liver(4.2)
  • Skin(2)
genes like me logo Genes that share expression patterns with ECD: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for ECD Gene

Orthologs for ECD Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ECD Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ECD 30
  • 96.53 (n)
Cow
(Bos Taurus)
Mammalia ECD 30 31
  • 89.46 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ECD 30 31
  • 88.91 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Ecd 30 17 31
  • 82.12 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ecd 30
  • 79.78 (n)
Oppossum
(Monodelphis domestica)
Mammalia ECD 31
  • 70 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ECD 31
  • 61 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ECD 30 31
  • 64.37 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 71 (a)
OneToMany
-- 31
  • 55 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ecd 30
  • 64.21 (n)
Str.6089 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.15386 30
Zebrafish
(Danio rerio)
Actinopterygii ecd 30 31
  • 57.67 (n)
OneToOne
wufi43e02 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005814 30
  • 47.13 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta ecd 30 31
  • 46.42 (n)
OneToOne
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT5G65490 30
  • 47.67 (n)
Rice
(Oryza sativa)
Liliopsida Os08g0447200 30
  • 45.69 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 37 (a)
OneToOne
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.7722 30
Species where no ortholog for ECD was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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 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)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for ECD Gene

ENSEMBL:
Gene Tree for ECD (if available)
TreeFam:
Gene Tree for ECD (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ECD: view image

Paralogs for ECD Gene

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

No data available for Paralogs for ECD Gene

Variants for ECD Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ECD Gene

SNP ID Clinical significance and condition Chr 10 pos Variation AA Info Type
713463 Likely Benign: not provided 73,139,653(-) T/C NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
739473 Likely Benign: not provided 73,134,822(-) T/C INTRON_VARIANT
780140 Benign: not provided 73,139,410(-) G/A NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
rs151023501 - p.Arg281Gly
rs2271904 - p.Asp634Gly

Additional dbSNP identifiers (rs#s) for ECD Gene

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

Variant ID Type Subtype PubMed ID
nsv1120224 CNV tandem duplication 24896259
nsv1127125 CNV deletion 24896259
nsv514574 CNV loss 21397061
nsv527219 CNV loss 19592680
nsv7132 CNV deletion 18451855

Variation tolerance for ECD Gene

Residual Variation Intolerance Score: 79.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 16.34; 97.68% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ECD Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for ECD Gene

Additional Disease Information for ECD

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform

No disorders were found for ECD Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ECD Gene

Publications for ECD Gene

  1. A human gene, hSGT1, can substitute for GCR2, which encodes a general regulatory factor of glycolytic gene expression in Saccharomyces cerevisiae. (PMID: 9928932) Sato T … Uemura H (Molecular & general genetics : MGG 1999) 2 3 4 23
  2. A Novel Interaction of Ecdysoneless (ECD) Protein with R2TP Complex Component RUVBL1 Is Required for the Functional Role of ECD in Cell Cycle Progression. (PMID: 26711270) Mir RA … Band V (Molecular and cellular biology 2015) 3 4
  3. Phosphorylation-dependent PIH1D1 interactions define substrate specificity of the R2TP cochaperone complex. (PMID: 24656813) Hořejší Z … Boulton SJ (Cell reports 2014) 3 4
  4. TXNIP interacts with hEcd to increase p53 stability and activity. (PMID: 23880345) Suh HW … Choi I (Biochemical and biophysical research communications 2013) 3 4
  5. Overexpression of a novel cell cycle regulator ecdysoneless in breast cancer: a marker of poor prognosis in HER2/neu-overexpressing breast cancer patients. (PMID: 22270930) Zhao X … Band V (Breast cancer research and treatment 2012) 3 4

Products for ECD Gene

Sources for ECD Gene