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Aliases for CDHR1 Gene

Aliases for CDHR1 Gene

  • Cadherin-Related Family Member 1 2 3
  • PCDH21 3 4 6
  • PRCAD 3 4 6
  • Photoreceptor Cadherin 3 4
  • Protocadherin-21 3 4
  • CORD15 3 6
  • RP65 3 6
  • Protocadherin 21 2
  • MT-Protocadherin 3
  • KIAA1775 4

External Ids for CDHR1 Gene

Previous HGNC Symbols for CDHR1 Gene

  • PCDH21

Previous GeneCards Identifiers for CDHR1 Gene

  • GC10P085954
  • GC10P079799

Summaries for CDHR1 Gene

Entrez Gene Summary for CDHR1 Gene

  • This gene belongs to the cadherin superfamily of calcium-dependent cell adhesion molecules. The encoded protein is a photoreceptor-specific cadherin that plays a role in outer segment disc morphogenesis. Mutations in this gene are associated with inherited retinal dystrophies. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2013]

GeneCards Summary for CDHR1 Gene

CDHR1 (Cadherin-Related Family Member 1) is a Protein Coding gene. Diseases associated with CDHR1 include cone-rod dystrophy 15 and cone-rod dystrophy 6. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is CDHR2.

UniProtKB/Swiss-Prot for CDHR1 Gene

  • Potential calcium-dependent cell-adhesion protein. May be required for the structural integrity of the outer segment (OS) of photoreceptor cells (By similarity).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CDHR1 Gene

Genomics for CDHR1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for CDHR1 Gene

Start:
84,194,635 bp from pter
End:
84,219,621 bp from pter
Size:
24,987 bases
Orientation:
Plus strand

Genomic View for CDHR1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CDHR1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CDHR1 Gene

No data available for Regulatory Elements for CDHR1 Gene

Proteins for CDHR1 Gene

  • Protein details for CDHR1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96JP9-CDHR1_HUMAN
    Recommended name:
    Cadherin-related family member 1
    Protein Accession:
    Q96JP9
    Secondary Accessions:
    • Q69YZ8
    • Q8IXY5

    Protein attributes for CDHR1 Gene

    Size:
    859 amino acids
    Molecular mass:
    93595 Da
    Quaternary structure:
    • Interacts with PROM1.

    Alternative splice isoforms for CDHR1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CDHR1 Gene

Proteomics data for CDHR1 Gene at MOPED

Post-translational modifications for CDHR1 Gene

  • Undergoes proteolytic cleavage; produces a soluble 95 kDa N-terminal fragment and a 25 kDa cell-associated C-terminal fragment.
  • Glycosylation at Asn58, Asn89, and Asn296
  • Modification sites at PhosphoSitePlus

Other Protein References for CDHR1 Gene

No data available for DME Specific Peptides for CDHR1 Gene

Domains for CDHR1 Gene

Gene Families for CDHR1 Gene

HGNC:
  • CDHR :Cadherins / Cadherin-related

Protein Domains for CDHR1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for CDHR1 Gene

Graphical View of Domain Structure for InterPro Entry

Q96JP9

UniProtKB/Swiss-Prot:

CDHR1_HUMAN :
  • Q96JP9
Domain:
  • Contains 6 cadherin domains.
genes like me logo Genes that share domains with CDHR1: view

Function for CDHR1 Gene

Molecular function for CDHR1 Gene

UniProtKB/Swiss-Prot Function: Potential calcium-dependent cell-adhesion protein. May be required for the structural integrity of the outer segment (OS) of photoreceptor cells (By similarity).

Gene Ontology (GO) - Molecular Function for CDHR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding --
genes like me logo Genes that share ontologies with CDHR1: view

Phenotypes for CDHR1 Gene

MGI mutant phenotypes for CDHR1:
inferred from 2 alleles
GenomeRNAi human phenotypes for CDHR1:
genes like me logo Genes that share phenotypes with CDHR1: view

Animal Models for CDHR1 Gene

MGI Knock Outs for CDHR1:

Animal Model Products

CRISPR Products

miRNA for CDHR1 Gene

miRTarBase miRNAs that target CDHR1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for CDHR1 Gene

Localization for CDHR1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CDHR1 Gene

Cell membrane; Single-pass membrane protein. Note=Localized at the junction between the inner and outer segments of rod and cone photoreceptors cells. Confined to the base of the OS. Localized on the edges of nascent evaginating disks on the side of the OS opposite the connecting cilium. Expressed at postnatal day 2 at the apical tip of the rod photoreceptor cells, the site of the developing OS. Colocalized with rhodopsin between postnatal days 2 and 9 at the base of the growing OS region (By similarity). {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CDHR1 Gene COMPARTMENTS Subcellular localization image for CDHR1 gene
Compartment Confidence
plasma membrane 5
cytosol 1
extracellular 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for CDHR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005887 integral component of plasma membrane IEA --
GO:0016020 membrane --
GO:0042622 photoreceptor outer segment membrane IEA --
genes like me logo Genes that share ontologies with CDHR1: view

Pathways for CDHR1 Gene

SuperPathways for CDHR1 Gene

No Data Available

Interacting Proteins for CDHR1 Gene

Gene Ontology (GO) - Biological Process for CDHR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules IEA --
GO:0009987 cellular process IEA --
GO:0045494 photoreceptor cell maintenance IEA --
genes like me logo Genes that share ontologies with CDHR1: view

No data available for Pathways by source for CDHR1 Gene

Compounds for CDHR1 Gene

(1) HMDB Compounds for CDHR1 Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2
genes like me logo Genes that share compounds with CDHR1: view

Transcripts for CDHR1 Gene

Unigene Clusters for CDHR1 Gene

Cadherin-related family member 1:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CDHR1

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for CDHR1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CDHR1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17a · 17b · 17c ^ 18
SP1: - - - -
SP2: -
SP3: - -
SP4: - - -
SP5:

Relevant External Links for CDHR1 Gene

GeneLoc Exon Structure for
CDHR1
ECgene alternative splicing isoforms for
CDHR1

Expression for CDHR1 Gene

mRNA expression in normal human tissues for CDHR1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CDHR1 Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (16.1), Skin - Sun Exposed (Lower leg) (14.6), and Colon - Transverse (4.9).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for CDHR1 Gene

SOURCE GeneReport for Unigene cluster for CDHR1 Gene Hs.137556

genes like me logo Genes that share expressions with CDHR1: view

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for CDHR1 Gene

Orthologs for CDHR1 Gene

This gene was present in the common ancestor of animals.

Orthologs for CDHR1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CDHR1 35
  • 99.34 (n)
  • 99.42 (a)
CDHR1 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CDHR1 35
  • 86.42 (n)
  • 85.22 (a)
CDHR1 36
  • 84 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CDHR1 35
  • 83.17 (n)
  • 82.67 (a)
CDHR1 36
  • 83 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cdhr1 35
  • 84.43 (n)
  • 85.1 (a)
Cdhr1 16
Cdhr1 36
  • 85 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CDHR1 36
  • 73 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CDHR1 36
  • 57 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cdhr1 35
  • 84.48 (n)
  • 85.06 (a)
chicken
(Gallus gallus)
Aves CDHR1 35
  • 70.4 (n)
  • 71.36 (a)
CDHR1 36
  • 68 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CDHR1 36
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cdhr1 35
  • 64 (n)
  • 64.56 (a)
zebrafish
(Danio rerio)
Actinopterygii CDHR1 (2 of 2) 36
  • 57 (a)
OneToMany
cdhr1a 35
  • 62.45 (n)
  • 58.93 (a)
cdhr1a 36
  • 57 (a)
OneToMany
Dr.11065 35
fruit fly
(Drosophila melanogaster)
Insecta Cad86C 36
  • 11 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 33 (a)
OneToOne
Species with no ortholog for CDHR1:
  • 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)
  • 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 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 CDHR1 Gene

ENSEMBL:
Gene Tree for CDHR1 (if available)
TreeFam:
Gene Tree for CDHR1 (if available)

Paralogs for CDHR1 Gene

Paralogs for CDHR1 Gene

genes like me logo Genes that share paralogs with CDHR1: view

Variants for CDHR1 Gene

Sequence variations from dbSNP and Humsavar for CDHR1 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type MAF
rs730442 -- 84,214,297(+) ATCCG(C/G)ATTGA intron-variant, reference, synonymous-codon
rs960731 -- 84,206,402(+) GCCGG(G/T)CATGT intron-variant
rs1059341 -- 84,217,209(+) CTGCT(A/C)GGTCC intron-variant, utr-variant-3-prime
rs1059342 -- 84,217,264(+) CAGGG(A/T)AAGAG intron-variant, utr-variant-3-prime
rs2279229 -- 84,218,389(+) ATGAG(C/G)TTCGG intron-variant, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for CDHR1 Gene

Variant ID Type Subtype PubMed ID
nsv895828 CNV Loss 21882294

Relevant External Links for CDHR1 Gene

HapMap Linkage Disequilibrium report
CDHR1
Human Gene Mutation Database (HGMD)
CDHR1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CDHR1 Gene

Disorders for CDHR1 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (3) Diseases for CDHR1 Gene including...

Search for CDHR1 Gene in MalaCards »

(1) OMIM Diseases for CDHR1 Gene (609502)

UniProtKB/Swiss-Prot

CDHR1_HUMAN
  • Cone-rod dystrophy 15 (CORD15) [MIM:613660]: An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa. {ECO:0000269 PubMed:20805371}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for CDHR1 Gene

Relevant External Links for CDHR1

Genetic Association Database (GAD)
CDHR1
Human Genome Epidemiology (HuGE) Navigator
CDHR1
genes like me logo Genes that share disorders with CDHR1: view

Publications for CDHR1 Gene

  1. Protocadherin-21 (PCDH21), a candidate gene for human retinal dystrophies. (PMID: 16288196) Bolz H. … Gal A. (Mol. Vis. 2005) 3 4 23
  2. Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice. (PMID: 18654668) Yang Z. … Zhang K. (J. Clin. Invest. 2008) 3 4 23
  3. Identification of three novel non-classical cadherin genes through comprehensive analysis of large cDNAs. (PMID: 11597768) Nakajima D. … Ohara O. (Brain Res. Mol. Brain Res. 2001) 2 3 4
  4. Biallelic mutation of protocadherin-21 (PCDH21) causes retinal degeneration in humans. (PMID: 20087419) Henderson R.H. … Webster A.R. (Mol. Vis. 2010) 3 23
  5. Mutations in PCDH21 cause autosomal recessive cone-rod dystrophy. (PMID: 20805371) Ostergaard E. … Rosenberg T. (J. Med. Genet. 2010) 3 4

Products for CDHR1 Gene

Sources for CDHR1 Gene

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