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Aliases for EPDR1 Gene

Aliases for EPDR1 Gene

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

External Ids for EPDR1 Gene

Previous GeneCards Identifiers for EPDR1 Gene

  • GC07P037734
  • GC07P037926

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. GO annotations related to this gene include calcium ion binding.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EPDR1 Gene

Genomics for EPDR1 Gene

Regulatory Elements for EPDR1 Gene

Promoters for EPDR1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around EPDR1 on UCSC Golden Path with GeneCards custom track

Genomic Location for EPDR1 Gene

Chromosome:
7
Start:
37,683,843 bp from pter
End:
37,951,941 bp from pter
Size:
268,099 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:
    No Data Available
    SequenceCaution:
    • Sequence=AAH00686.2; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAB60269.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for EPDR1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EPDR1 Gene

Proteomics data for EPDR1 Gene at MOPED

Post-translational modifications for EPDR1 Gene

  • Glycosylation at Asn 130 and Asn 182

Other Protein References for EPDR1 Gene

No data available for DME Specific Peptides for EPDR1 Gene

Domains & Families for EPDR1 Gene

Protein Domains for EPDR1 Gene

InterPro:
Blocks:
ProtoNet:

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

No data available for Gene Families for EPDR1 Gene

Function for EPDR1 Gene

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

Animal Model Products

  • Taconic Biosciences Mouse Models for EPDR1

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for EPDR1 Gene

Localization for EPDR1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EPDR1 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for EPDR1 Gene COMPARTMENTS Subcellular localization image for EPDR1 gene
Compartment Confidence
extracellular 5
lysosome 2
vacuole 2
cytosol 1
golgi apparatus 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for EPDR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome IEA --
genes like me logo Genes that share ontologies with EPDR1: view

Pathways & Interactions for EPDR1 Gene

SuperPathways for EPDR1 Gene

No Data Available

Interacting Proteins for EPDR1 Gene

Gene Ontology (GO) - Biological Process for EPDR1 Gene

None

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

Unigene Clusters for EPDR1 Gene

Ependymin related protein 1 (zebrafish):
Representative Sequences:

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
ECgene alternative splicing isoforms for
EPDR1

Expression for EPDR1 Gene

mRNA expression in normal human tissues 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



SOURCE GeneReport for Unigene cluster for EPDR1 Gene Hs.563491

genes like me logo Genes that share expression patterns with EPDR1: view

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners 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 35
  • 99.26 (n)
  • 98.66 (a)
EPDR1 36
  • 64 (a)
OneToOne
cow
(Bos Taurus)
Mammalia EPDR1 36
  • 82 (a)
OneToOne
EPDR1 35
  • 86.61 (n)
  • 85.71 (a)
dog
(Canis familiaris)
Mammalia EPDR1 35
  • 86.89 (n)
  • 92.62 (a)
EPDR1 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Epdr1 16
Epdr1 35
  • 82.36 (n)
  • 80.27 (a)
Epdr1 36
  • 80 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia EPDR1 36
  • 46 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Epdr1 35
  • 83.11 (n)
  • 81.17 (a)
chicken
(Gallus gallus)
Aves EPDR1 35
  • 72.36 (n)
  • 70.24 (a)
EPDR1 36
  • 65 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EPDR1 36
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia epdr1 35
  • 68.13 (n)
  • 67.58 (a)
zebrafish
(Danio rerio)
Actinopterygii epdr1 36
  • 58 (a)
OneToOne
epdr1 35
  • 64 (n)
  • 61 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 25 (a)
OneToMany
-- 36
  • 18 (a)
OneToMany
Species with no ortholog for EPDR1:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for EPDR1 Gene

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

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

Sequence variations from dbSNP and Humsavar for EPDR1 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs896141 -- 37,943,600(-) TAATT(C/T)GTTTT intron-variant
rs1124268 -- 37,945,408(+) AATAA(A/G/T)CAAGA intron-variant
rs1349394 -- 37,925,301(-) CCCAA(A/G)CCACC intron-variant
rs1547445 -- 37,941,504(-) AAGAT(A/G)TTTGT intron-variant
rs1547446 -- 37,941,445(-) TGAAG(A/T)CAGGT intron-variant

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)

Relevant External Links for EPDR1 Gene

HapMap Linkage Disequilibrium report
EPDR1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EPDR1 Gene

Disorders for EPDR1 Gene

Relevant External Links for EPDR1

Genetic Association Database (GAD)
EPDR1
Human Genome Epidemiology (HuGE) Navigator
EPDR1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EPDR1

No disorders were found for EPDR1 Gene.

No data available for MalaCards , 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 M.A. (DNA Cell Biol. 2001) 2 3 4 67
  2. The novel ependymin related gene UCC1 is highly expressed in colorectal tumor cells. (PMID: 11248421) Nimmrich I. … MA1ller O. (Cancer Lett. 2001) 2 3 23
  3. MERP1: a mammalian ependymin-related protein gene differentially expressed in hematopoietic cells. (PMID: 11943480) Gregorio-King C.C. … Kirkland M.A. (Gene 2002) 3 23
  4. Proteomic analysis of podocyte exosome-enriched fraction from normal human urine. (PMID: 23376485) Prunotto M. … Moll S. (J Proteomics 2013) 3
  5. Common variants of the EPDR1 gene and the risk of Dupuytrena89s disease. (PMID: 24089297) DA9bniak T. … Serrano-Fernandez P. (Handchir Mikrochir Plast Chir 2013) 3

Products for EPDR1 Gene

Sources for EPDR1 Gene

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