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Aliases for PCDH1 Gene

Aliases for PCDH1 Gene

  • Protocadherin 1 2 3 5
  • Cadherin-Like Protein 1 3 4
  • Protocadherin-42 3 4
  • PC42 3 4
  • Protocadherin 1 (Cadherin-Like 1) 2
  • Protocadherin 42 3
  • Cadherin-Like 1 3
  • PCDH42 3

External Ids for PCDH1 Gene

Previous GeneCards Identifiers for PCDH1 Gene

  • GC05M141056
  • GC05M141816
  • GC05M141215
  • GC05M141261
  • GC05M141212
  • GC05M136376
  • GC05M141232

Summaries for PCDH1 Gene

Entrez Gene Summary for PCDH1 Gene

  • This gene belongs to the protocadherin subfamily within the cadherin superfamily. The encoded protein is a membrane protein found at cell-cell boundaries. It is involved in neural cell adhesion, suggesting a possible role in neuronal development. The protein includes an extracelllular region, containing 7 cadherin-like domains, a transmembrane region and a C-terminal cytoplasmic region. Cells expressing the protein showed cell aggregation activity. Alternative splicing occurs in this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for PCDH1 Gene

PCDH1 (Protocadherin 1) is a Protein Coding gene. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is PCDH20.

UniProtKB/Swiss-Prot for PCDH1 Gene

  • May be involved in cell-cell interaction processes and in cell adhesion.

Gene Wiki entry for PCDH1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PCDH1 Gene

Genomics for PCDH1 Gene

Regulatory Elements for PCDH1 Gene

Promoters for PCDH1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PCDH1 on UCSC Golden Path with GeneCards custom track

Genomic Location for PCDH1 Gene

Chromosome:
5
Start:
141,852,319 bp from pter
End:
141,879,246 bp from pter
Size:
26,928 bases
Orientation:
Minus strand

Genomic View for PCDH1 Gene

Genes around PCDH1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PCDH1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PCDH1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PCDH1 Gene

Proteins for PCDH1 Gene

  • Protein details for PCDH1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q08174-PCDH1_HUMAN
    Recommended name:
    Protocadherin-1
    Protein Accession:
    Q08174
    Secondary Accessions:
    • Q8IUP2

    Protein attributes for PCDH1 Gene

    Size:
    1060 amino acids
    Molecular mass:
    114743 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAA36419.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO:0000305};

    Alternative splice isoforms for PCDH1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PCDH1 Gene

Proteomics data for PCDH1 Gene at MOPED

Post-translational modifications for PCDH1 Gene

  • Glycosylation at Asn 305, Asn 403, Asn 618, Asn 662, Asn 720, Asn 813, and Asn 818
  • Modification sites at PhosphoSitePlus

Antibody Products

  • R&D Systems Antibodies for PCDH1 (Protocadherin-1)
  • Cloud-Clone Corp. Antibodies for PCDH1

No data available for DME Specific Peptides for PCDH1 Gene

Domains & Families for PCDH1 Gene

Gene Families for PCDH1 Gene

Suggested Antigen Peptide Sequences for PCDH1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q08174

UniProtKB/Swiss-Prot:

PCDH1_HUMAN :
  • Contains 7 cadherin domains.
Domain:
  • Contains 7 cadherin domains.
genes like me logo Genes that share domains with PCDH1: view

Function for PCDH1 Gene

Molecular function for PCDH1 Gene

GENATLAS Biochemistry:
protocadherin 1,cadherin-related neuronal receptor,component of the PCDHG cluster,member C3,expressed in the brain,localized at the synaptic junction and putatively involved in specific neuronal connections and signal transduction
UniProtKB/Swiss-Prot Function:
May be involved in cell-cell interaction processes and in cell adhesion.
genes like me logo Genes that share phenotypes with PCDH1: view

Animal Model Products

miRNA for PCDH1 Gene

miRTarBase miRNAs that target PCDH1

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PCDH1 Gene

Localization for PCDH1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PCDH1 Gene

Cell junction. Cell membrane; Single-pass type I membrane protein. Note=Found at cell-cell boundaries and probably at cell-matrix boundaries.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PCDH1 Gene COMPARTMENTS Subcellular localization image for PCDH1 gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for PCDH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005911 cell-cell junction TAS 8508762
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with PCDH1: view

Pathways & Interactions for PCDH1 Gene

SuperPathways for PCDH1 Gene

No Data Available

Interacting Proteins for PCDH1 Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000287008%0d%0a9606.ENSP00000344818%0d%0a9606.ENSP00000378426%0d%0a
Selected Interacting proteins: Q08174-PCDH1_HUMAN ENSP00000287008 for PCDH1 Gene via I2D MINT STRING

Gene Ontology (GO) - Biological Process for PCDH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007155 cell adhesion IEA --
genes like me logo Genes that share ontologies with PCDH1: view

No data available for Pathways by source and SIGNOR curated interactions for PCDH1 Gene

Drugs & Compounds for PCDH1 Gene

No Compound Related Data Available

Transcripts for PCDH1 Gene

Unigene Clusters for PCDH1 Gene

Protocadherin 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PCDH1 Gene

No ASD Table

Relevant External Links for PCDH1 Gene

GeneLoc Exon Structure for
PCDH1
ECgene alternative splicing isoforms for
PCDH1

Expression for PCDH1 Gene

mRNA expression in normal human tissues for PCDH1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PCDH1 Gene

This gene is overexpressed in Heart (29.2) and Frontal cortex (10.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for PCDH1 Gene



SOURCE GeneReport for Unigene cluster for PCDH1 Gene Hs.79769

mRNA Expression by UniProt/SwissProt for PCDH1 Gene

Q08174-PCDH1_HUMAN
Tissue specificity: Highly expressed in the brain and neuro-glial cells.
genes like me logo Genes that share expression patterns with PCDH1: view

Protein tissue co-expression partners for PCDH1 Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for PCDH1 Gene

Orthologs for PCDH1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for PCDH1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia PCDH1 35
  • 90.75 (n)
  • 96.32 (a)
PCDH1 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PCDH1 35
  • 92.48 (n)
  • 97.08 (a)
PCDH1 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pcdh1 35
  • 88.7 (n)
  • 96.25 (a)
Pcdh1 16
Pcdh1 36
  • 95 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PCDH1 35
  • 99.65 (n)
  • 99.6 (a)
PCDH1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pcdh1 35
  • 88.97 (n)
  • 96.96 (a)
oppossum
(Monodelphis domestica)
Mammalia PCDH1 36
  • 94 (a)
OneToOne
chicken
(Gallus gallus)
Aves PCDH1 35
  • 78.4 (n)
  • 83.93 (a)
PCDH1 36
  • 82 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PCDH1 36
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pcdh1 35
  • 69.56 (n)
  • 75.36 (a)
Str.20430 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.12097 35
zebrafish
(Danio rerio)
Actinopterygii Dr.26174 35
pcdh1 35
  • 66.89 (n)
  • 70.06 (a)
pcdh1a 36
  • 68 (a)
OneToMany
pcdh1b 36
  • 68 (a)
OneToMany
Species with no ortholog for PCDH1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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 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 PCDH1 Gene

ENSEMBL:
Gene Tree for PCDH1 (if available)
TreeFam:
Gene Tree for PCDH1 (if available)

Paralogs for PCDH1 Gene

Paralogs for PCDH1 Gene

genes like me logo Genes that share paralogs with PCDH1: view

Variants for PCDH1 Gene

Sequence variations from dbSNP and Humsavar for PCDH1 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs12517385 - 141,869,429(+) CAGGA(A/G)GGCTG upstream-variant-2KB, reference, missense, utr-variant-5-prime
rs12515587 - 141,869,398(+) TCAGG(G/T)GCTCC upstream-variant-2KB, reference, missense
rs3822357 - 141,864,791(-) AGGTC(A/G)CCTTC reference, missense
rs2678 -- 141,862,996(-) CCCCA(C/T)TGGGG intron-variant, utr-variant-3-prime
rs14359 -- 141,863,068(-) TCACC(C/G)GGCAC intron-variant, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for PCDH1 Gene

Variant ID Type Subtype PubMed ID
nsv509093 CNV Insertion 20534489

Variation tolerance for PCDH1 Gene

Residual Variation Intolerance Score: 2.66% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.96; 87.28% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PCDH1 Gene

HapMap Linkage Disequilibrium report
PCDH1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PCDH1 Gene

Disorders for PCDH1 Gene

Relevant External Links for PCDH1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PCDH1

No disorders were found for PCDH1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PCDH1 Gene

Publications for PCDH1 Gene

  1. Protocadherins: a large family of cadherin-related molecules in central nervous system. (PMID: 8508762) Sano K. … Suzuki S. (EMBO J. 1993) 2 3 4 67
  2. The PCDH1 gene and asthma in early childhood. (PMID: 23988763) Mortensen L.J. … Bisgaard H. (Eur. Respir. J. 2014) 3
  3. Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies. (PMID: 23377640) (Am J Psychiatry 2013) 3
  4. A genome-wide meta-analysis identifies two novel loci associated with high myopia in the Han Chinese population. (PMID: 23406873) Shi Y. … Yang Z. (Hum. Mol. Genet. 2013) 3
  5. Protocadherin-1 polymorphisms are associated with eczema in two Dutch birth cohorts. (PMID: 21929597) Koning H. … Koppelman G.H. (Pediatr Allergy Immunol 2012) 3

Products for PCDH1 Gene

Sources for PCDH1 Gene

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