The protein encoded by this gene is a type II transmembrane protein that is similar to two families of cell adhesion molecules, the protocadherins and ependymins. This protein may play a role in calcium-dependent cell adhesion. This protein is glycosylated, and the orthologous mouse protein is localized to the lysosome. Alternative splicing results in multiple transcript varian... See more...

Aliases for EPDR1 Gene

Aliases for EPDR1 Gene

  • Ependymin Related 1 2 3 5
  • MERP-1 2 3 4
  • MERP1 2 3 4
  • UCC1 2 3 4
  • Upregulated In Colorectal Cancer Gene 1 Protein 3 4
  • Mammalian Ependymin-Related Protein 1 3 4
  • EPDR 2 3
  • Ependymin Related Protein 1 (Zebrafish) 2
  • Mammalian Ependymin Related Protein 1 3
  • Ependymin Related Protein 1 3
  • EPDR1 5

External Ids for EPDR1 Gene

Previous GeneCards Identifiers for EPDR1 Gene

  • GC07P037734
  • GC07P037926
  • GC07P037723
  • GC07P037684
  • GC07P037686

Summaries for EPDR1 Gene

Entrez Gene Summary for EPDR1 Gene

  • The protein encoded by this gene is a type II transmembrane protein that is similar to two families of cell adhesion molecules, the protocadherins and ependymins. This protein may play a role in calcium-dependent cell adhesion. This protein is glycosylated, and the orthologous mouse protein is localized to the lysosome. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 8. [provided by RefSeq, Aug 2011]

GeneCards Summary for EPDR1 Gene

EPDR1 (Ependymin Related 1) is a Protein Coding gene. Diseases associated with EPDR1 include Retinitis Pigmentosa 75 and Marshall Syndrome. Gene Ontology (GO) annotations related to this gene include calcium ion binding.

UniProtKB/Swiss-Prot Summary for EPDR1 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for EPDR1 Gene

Genomics for EPDR1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for EPDR1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07J037920 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 614 +237.6 237577 2.8 HNRNPL GATAD2A PRDM10 CTCF BACH1 LARP7 ZIC2 RBFOX2 PATZ1 REST EPDR1 lnc-ELMO1-2 lnc-EPDR1-2 NME8 SFRP4
GH07J037682 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE dbSUPER 600.7 +0.4 440 3.4 SP1 BACH1 TCF12 IKZF2 RCOR1 TRIM22 PKNOX1 EED DPF2 RELB EPDR1 GPR141 lnc-GPR141-2 piR-50391-016 ENSG00000201566 ENSG00000200113 NME8 lnc-GPR141-3 RF01061-158
GH07J037916 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 23.6 +232.7 232671 2.6 HNRNPL GATAD2A CTCF ATF7 PRDM10 ZNF629 ZNF7 RBFOX2 PATZ1 RAD21 SFRP4 EPDR1 lnc-ELMO1-2 lnc-EPDR1-2 NME8
GH07J037443 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 8.9 -236.8 -236787 6.3 CTCF PRDM10 ZNF629 POLR2A PRDM1 ZIC2 ZSCAN4 PATZ1 IKZF2 RCOR1 ELMO1 lnc-SFRP4-1 lnc-SFRP4-2 GPR141 RNU6-565P EPDR1 TRGV3 RF00017-6125 AOAH
GH07J037901 Enhancer 0.9 Ensembl ENCODE 15 +218.2 218249 1.8 CTCF PRDM1 REST RAD21 TRIM22 CEBPB SP1 HMBOX1 JUND NFE2 SFRP4 EPDR1 piR-38344-126 lnc-ELMO1-2 NME8
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around EPDR1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for EPDR1

Top Transcription factor binding sites by QIAGEN in the EPDR1 gene promoter:
  • AP-2gamma
  • AREB6
  • ATF-2
  • CRE-BP1
  • Elk-1
  • Nkx2-5
  • p53

Genomic Locations for EPDR1 Gene

Genomic Locations for EPDR1 Gene
chr7:37,683,843-37,951,941
(GRCh38/hg38)
Size:
268,099 bases
Orientation:
Plus strand
chr7:37,723,446-37,991,543
(GRCh37/hg19)
Size:
268,098 bases
Orientation:
Plus strand

Genomic View for EPDR1 Gene

Genes around EPDR1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EPDR1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EPDR1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EPDR1 Gene

Proteins for EPDR1 Gene

  • Protein details for EPDR1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UM22-EPDR1_HUMAN
    Recommended name:
    Mammalian ependymin-related protein 1
    Protein Accession:
    Q9UM22
    Secondary Accessions:
    • A8K4C0
    • C9JYS3
    • Q06BL0
    • Q99M77

    Protein attributes for EPDR1 Gene

    Size:
    224 amino acids
    Molecular mass:
    25437 Da
    Quaternary structure:
    • Homodimer.
    SequenceCaution:
    • Sequence=AAH00686.2; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAB60269.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for EPDR1 Gene

    Alternative splice isoforms for EPDR1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EPDR1 Gene

Post-translational modifications for EPDR1 Gene

  • N-glycosylated; the glycan contains mannose-6-phosphate moieties.
  • Glycosylation at Asn130 and Asn182
  • Modification sites at PhosphoSitePlus

Other Protein References for EPDR1 Gene

No data available for DME Specific Peptides for EPDR1 Gene

Domains & Families for EPDR1 Gene

Gene Families for EPDR1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for EPDR1 Gene

InterPro:
Blocks:
  • Ependymin signature
ProtoNet:

Suggested Antigen Peptide Sequences for EPDR1 Gene

GenScript: Design optimal peptide antigens:
  • Upregulated in colorectal cancer gene 1 (A4D1W8_HUMAN)
  • Upregulated in colorectal cancer gene 1 protein (EPDR1_HUMAN)
  • Mammalian ependymin related protein 1 (Q96J80_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9UM22

UniProtKB/Swiss-Prot:

EPDR1_HUMAN :
  • Belongs to the ependymin family.
Family:
  • Belongs to the ependymin family.
genes like me logo Genes that share domains with EPDR1: view

Function for EPDR1 Gene

Molecular function for EPDR1 Gene

UniProtKB/Swiss-Prot Function:
Binds anionic lipids and gangliosides at acidic pH.

Phenotypes From GWAS Catalog for EPDR1 Gene

Gene Ontology (GO) - Molecular Function for EPDR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
GO:0008289 lipid binding IEA --
genes like me logo Genes that share ontologies with EPDR1: view
genes like me logo Genes that share phenotypes with EPDR1: view

Animal Models for EPDR1 Gene

MGI Knock Outs for EPDR1:
  • Epdr1 Epdr1<tm1b(NCOM)Mfgc>

Animal Model Products

  • Taconic Biosciences Mouse Models for EPDR1

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EPDR1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for EPDR1 Gene

Localization for EPDR1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EPDR1 Gene

Lysosome lumen. Secreted. Note=Lysosomal and also secreted. {ECO:0000269 PubMed:30729188}.

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 EPDR1 gene
Compartment Confidence
extracellular 4
lysosome 3
plasma membrane 1
cytoskeleton 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
endosome 1
cytosol 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for EPDR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005764 lysosome IEA,IBA 21873635
GO:0043202 lysosomal lumen IEA --
genes like me logo Genes that share ontologies with EPDR1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for EPDR1 Gene

Pathways & Interactions for EPDR1 Gene

PathCards logo

SuperPathways for EPDR1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for EPDR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007160 cell-matrix adhesion IEA --
genes like me logo Genes that share ontologies with EPDR1: view

No data available for Pathways by source and SIGNOR curated interactions for EPDR1 Gene

Drugs & Compounds for EPDR1 Gene

No Compound Related Data Available

Transcripts for EPDR1 Gene

mRNA/cDNA for EPDR1 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EPDR1

Alternative Splicing Database (ASD) splice patterns (SP) for EPDR1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c · 5d
SP1: -
SP2: -
SP3:
SP4: - -

Relevant External Links for EPDR1 Gene

GeneLoc Exon Structure for
EPDR1

Expression for EPDR1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for EPDR1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for EPDR1 Gene

This gene is overexpressed in Bone marrow stromal cell (9.3), Adrenal (7.7), and Bone (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for EPDR1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for EPDR1

SOURCE GeneReport for Unigene cluster for EPDR1 Gene:

Hs.563491

mRNA Expression by UniProt/SwissProt for EPDR1 Gene:

Q9UM22-EPDR1_HUMAN
Tissue specificity: Ubiquitous. Detected in brain, heart, skeletal muscle, kidney, testis, ovary and prostate.

Evidence on tissue expression from TISSUES for EPDR1 Gene

  • Liver(4.3)
  • Nervous system(2.4)
genes like me logo Genes that share expression patterns with EPDR1: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for EPDR1 Gene

Orthologs for EPDR1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for EPDR1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia EPDR1 30 31
  • 99.26 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia EPDR1 30 31
  • 86.89 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia EPDR1 30 31
  • 86.61 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Epdr1 30
  • 83.11 (n)
Mouse
(Mus musculus)
Mammalia Epdr1 30 17 31
  • 82.36 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia EPDR1 31
  • 46 (a)
OneToOne
Chicken
(Gallus gallus)
Aves EPDR1 30 31
  • 72.36 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia EPDR1 31
  • 69 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia epdr1 30
  • 68.13 (n)
Zebrafish
(Danio rerio)
Actinopterygii epdr1 30 31
  • 64 (n)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 25 (a)
OneToMany
-- 31
  • 18 (a)
OneToMany
Species where no ortholog for EPDR1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • 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)
  • Fruit Fly (Drosophila melanogaster)
  • 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)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • 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 EPDR1 Gene

ENSEMBL:
Gene Tree for EPDR1 (if available)
TreeFam:
Gene Tree for EPDR1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for EPDR1: view image

Paralogs for EPDR1 Gene

(1) SIMAP similar genes for EPDR1 Gene using alignment to 3 proteins:

  • EPDR1_HUMAN
  • D6RIH7_HUMAN
  • Q96J80_HUMAN

Pseudogenes.org Pseudogenes for EPDR1 Gene

genes like me logo Genes that share paralogs with EPDR1: view

No data available for Paralogs for EPDR1 Gene

Variants for EPDR1 Gene

Additional dbSNP identifiers (rs#s) for EPDR1 Gene

Structural Variations from Database of Genomic Variants (DGV) for EPDR1 Gene

Variant ID Type Subtype PubMed ID
nsv8074 CNV loss 18304495

Variation tolerance for EPDR1 Gene

Residual Variation Intolerance Score: 66.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.09; 80.46% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for EPDR1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
EPDR1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for EPDR1 Gene

Disorders for EPDR1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for EPDR1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
retinitis pigmentosa 75
  • rp75
marshall syndrome
  • mrshs
lynch syndrome i
  • colorectal cancer, hereditary nonpolyposis, type 1; hnpcc1
- elite association - COSMIC cancer census association via MalaCards
Search EPDR1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for EPDR1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with EPDR1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for EPDR1 Gene

Publications for EPDR1 Gene

  1. Identification and characterization of a novel family of mammalian ependymin-related proteins (MERPs) in hematopoietic, nonhematopoietic, and malignant tissues. (PMID: 11749721) Apostolopoulos J … Kirkland MA (DNA and cell biology 2001) 2 3 4
  2. The novel ependymin related gene UCC1 is highly expressed in colorectal tumor cells. (PMID: 11248421) Nimmrich I … Müller O (Cancer letters 2001) 2 3 23
  3. Crystal structures of human lysosomal EPDR1 reveal homology with the superfamily of bacterial lipoprotein transporters. (PMID: 30729188) Wei Y … Privé GG (Communications biology 2019) 3 4
  4. Wnt signaling and Dupuytren's disease. (PMID: 21732829) Dolmans GH … BSSH-GODD Consortium (The New England journal of medicine 2011) 3 41
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41

Products for EPDR1 Gene

Sources for EPDR1 Gene