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Aliases for CPED1 Gene

Aliases for CPED1 Gene

  • Cadherin Like And PC-Esterase Domain Containing 1 2 3 5
  • C7orf58 3 4
  • Cadherin-Like And PC-Esterase Domain-Containing Protein 1 3
  • Cadherin-Like And PC-Esterase Domain Containing 1 2
  • Chromosome 7 Open Reading Frame 58 2

External Ids for CPED1 Gene

Previous HGNC Symbols for CPED1 Gene

  • C7orf58

Previous GeneCards Identifiers for CPED1 Gene

  • GC07P120629

Summaries for CPED1 Gene

GeneCards Summary for CPED1 Gene

CPED1 (Cadherin Like And PC-Esterase Domain Containing 1) is a Protein Coding gene. Diseases associated with CPED1 include Coffin-Siris Syndrome 1.

Gene Wiki entry for CPED1 Gene

Additional gene information for CPED1 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CPED1 Gene

Genomics for CPED1 Gene

GeneHancer (GH) Regulatory Elements for CPED1 Gene

Promoters and enhancers for CPED1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07J120987 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 650.7 +2.2 2184 7.1 HDGF HNRNPUL1 PKNOX1 SMAD1 FOXA2 ARNT SIN3A DMAP1 ZNF2 YY1 CPED1 ING3 TSPAN12 HMGN1P18
GH07J121075 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE dbSUPER 662.9 +88.0 88036 1.8 PKNOX1 SMAD1 ATF1 ARNT NCOA2 TCF12 POLR2B ZNF766 GATA2 E2F8 CPED1 ING3 RNA5SP241 GC07M121084 HMGN1P18
GH07J121062 Promoter 1 EPDnew 660.6 +74.2 74171 0.1 DRAP1 SOX13 SAP130 ARID4B DMAP1 ZNF644 RBPJ ZSCAN9 CHAMP1 POLR2A CPED1 HMGN1P18 RNA5SP241 GC07M121084
GH07J121081 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 35.8 +95.9 95929 6.3 HDGF HNRNPUL1 FOXA2 PKNOX1 ATF1 ARNT ZNF2 ETS1 POLR2B E2F8 RNA5SP241 GC07M121084 CPED1 ING3 GC07P121089
GH07J121077 Enhancer 0.9 dbSUPER 20 +90.5 90481 2.7 HDGF PKNOX1 ARNT YY1 POLR2B ZNF766 ATF7 KDM4B RXRA NCOA1 ING3 CPED1 RNA5SP241 GC07M121084 HMGN1P18
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CPED1 on UCSC Golden Path with GeneCards custom track

Genomic Locations for CPED1 Gene

Genomic Locations for CPED1 Gene
308,768 bases
Plus strand
308,768 bases
Plus strand

Genomic View for CPED1 Gene

Genes around CPED1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CPED1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CPED1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CPED1 Gene

Proteins for CPED1 Gene

  • Protein details for CPED1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Cadherin-like and PC-esterase domain-containing protein 1
    Protein Accession:
    Secondary Accessions:
    • A8K1R3
    • Q6UXT1
    • Q86T76
    • Q86T84
    • Q8N2T5
    • Q96NC9

    Protein attributes for CPED1 Gene

    1026 amino acids
    Molecular mass:
    117491 Da
    Quaternary structure:
    No Data Available
    • Sequence=AAH30538.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for CPED1 Gene


neXtProt entry for CPED1 Gene

Post-translational modifications for CPED1 Gene

  • Glycosylation at Asn985, Asn791, posLast=737737, posLast=413413, posLast=404404, and Asn251
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CPED1 Gene

Domains & Families for CPED1 Gene

Gene Families for CPED1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for CPED1 Gene


Suggested Antigen Peptide Sequences for CPED1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the PC-esterase family.
  • Belongs to the PC-esterase family.
genes like me logo Genes that share domains with CPED1: view

Function for CPED1 Gene

Phenotypes From GWAS Catalog for CPED1 Gene

genes like me logo Genes that share phenotypes with CPED1: view

Animal Model Products

miRNA for CPED1 Gene

miRTarBase miRNAs that target CPED1

Clone Products

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 CPED1 Gene

Localization for CPED1 Gene

Subcellular locations from

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 CPED1 gene
Compartment Confidence
endoplasmic reticulum 5
golgi apparatus 2
plasma membrane 1
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for CPED1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IDA --
genes like me logo Genes that share ontologies with CPED1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for CPED1 Gene

Pathways & Interactions for CPED1 Gene

SuperPathways for CPED1 Gene

No Data Available

Interacting Proteins for CPED1 Gene

Gene Ontology (GO) - Biological Process for CPED1 Gene


No data available for Pathways by source and SIGNOR curated interactions for CPED1 Gene

Drugs & Compounds for CPED1 Gene

No Compound Related Data Available

Transcripts for CPED1 Gene

mRNA/cDNA for CPED1 Gene

Unigene Clusters for CPED1 Gene

Cadherin-like and PC-esterase domain containing 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CPED1 Gene

No ASD Table

Relevant External Links for CPED1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for CPED1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CPED1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CPED1 Gene

This gene is overexpressed in Artery - Tibial (x7.9), Artery - Coronary (x4.5), and Artery - Aorta (x4.1).

Protein differential expression in normal tissues from HIPED for CPED1 Gene

This gene is overexpressed in Monocytes (48.5) and Ovary (20.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CPED1 Gene

Protein tissue co-expression partners for CPED1 Gene

NURSA nuclear receptor signaling pathways regulating expression of CPED1 Gene:


SOURCE GeneReport for Unigene cluster for CPED1 Gene:


Evidence on tissue expression from TISSUES for CPED1 Gene

  • Nervous system(4.1)
  • Skin(4)
genes like me logo Genes that share expression patterns with CPED1: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CPED1 Gene

Orthologs for CPED1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CPED1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia CPED1 34 33
  • 99.25 (n)
(Bos Taurus)
Mammalia CPED1 34 33
  • 86.88 (n)
(Canis familiaris)
Mammalia CPED1 34 33
  • 84.78 (n)
(Rattus norvegicus)
Mammalia Cped1 33
  • 80.67 (n)
(Mus musculus)
Mammalia Cped1 16 34 33
  • 80.64 (n)
(Monodelphis domestica)
Mammalia CPED1 34
  • 65 (a)
(Ornithorhynchus anatinus)
Mammalia CPED1 34
  • 63 (a)
(Gallus gallus)
Aves CPED1 34 33
  • 66.6 (n)
(Anolis carolinensis)
Reptilia CPED1 34
  • 51 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia cped1 33
  • 59.7 (n)
(Danio rerio)
Actinopterygii cped1 34 33
  • 51.59 (n)
Species where no ortholog for CPED1 was found in the sources mined by GeneCards:
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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 CPED1 Gene

Gene Tree for CPED1 (if available)
Gene Tree for CPED1 (if available)
Evolutionary constrained regions (ECRs) for CPED1: view image

Paralogs for CPED1 Gene

(2) SIMAP similar genes for CPED1 Gene using alignment to 6 proteins:

  • G5E9U2_HUMAN
  • H0YB19_HUMAN
  • Q5MJQ4_HUMAN Pseudogenes for CPED1 Gene

genes like me logo Genes that share paralogs with CPED1: view

No data available for Paralogs for CPED1 Gene

Variants for CPED1 Gene

Sequence variations from dbSNP and Humsavar for CPED1 Gene

SNP ID Clin Chr 07 pos Variation AA Info Type
rs1000011022 -- 121,228,799(+) C/T intron_variant
rs1000016988 -- 121,106,183(+) A/C intron_variant
rs1000042491 -- 121,133,904(+) A/T intron_variant
rs1000044197 -- 121,232,689(+) G/A intron_variant
rs1000052255 -- 121,039,719(+) C/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for CPED1 Gene

Variant ID Type Subtype PubMed ID
dgv3655n106 CNV deletion 24896259
esv1560116 CNV deletion 17803354
esv1968318 CNV deletion 18987734
esv24150 CNV loss 19812545
esv2523024 CNV deletion 19546169
esv2669346 CNV deletion 23128226
esv2735079 CNV deletion 23290073
esv2735080 CNV deletion 23290073
esv2759558 CNV loss 17122850
esv3276606 CNV deletion 24192839
esv3542353 CNV deletion 23714750
esv3572116 CNV loss 25503493
esv3614814 CNV loss 21293372
esv3614817 CNV loss 21293372
nsv1021918 CNV loss 25217958
nsv1030988 CNV gain 25217958
nsv1034353 CNV loss 25217958
nsv1075992 CNV deletion 25765185
nsv1115000 CNV deletion 24896259
nsv1115001 CNV deletion 24896259
nsv1133108 OTHER inversion 24896259
nsv471958 CNV novel sequence insertion 20440878
nsv474817 CNV novel sequence insertion 20440878
nsv523626 CNV loss 19592680
nsv528485 CNV loss 19592680
nsv5930 CNV insertion 18451855
nsv608327 CNV loss 21841781
nsv7405 OTHER inversion 18451855
nsv831114 CNV loss 17160897
nsv981572 CNV duplication 23825009

Variation tolerance for CPED1 Gene

Residual Variation Intolerance Score: 66.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.78; 73.58% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CPED1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CPED1 Gene

Disorders for CPED1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for CPED1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
coffin-siris syndrome 1
  • css1
- elite association - COSMIC cancer census association via MalaCards
Search CPED1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CPED1

genes like me logo Genes that share disorders with CPED1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CPED1 Gene

Publications for CPED1 Gene

  1. Novel eukaryotic enzymes modifying cell-surface biopolymers. (PMID: 20056006) Anantharaman V … Aravind L (Biology direct 2010) 2 3 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  3. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark HF … Gray A (Genome research 2003) 3 4 58
  4. Phenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel loci in the genetic regulation of bone mass attainment. (PMID: 24945404) Kemp JP … Evans DM (PLoS genetics 2014) 3 58
  5. Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture. (PMID: 22504420) Estrada K … Rivadeneira F (Nature genetics 2012) 3 58

Products for CPED1 Gene

Sources for CPED1 Gene

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