PCDH1

Protein-coding gene in the species Homo sapiens
PCDH1
Identifiers
AliasesPCDH1, PC42, PCDH42, protocadherin 1
External IDsOMIM: 603626; MGI: 104692; HomoloGene: 12613; GeneCards: PCDH1; OMA:PCDH1 - orthologs
Gene location (Human)
Chromosome 5 (human)
Chr.Chromosome 5 (human)[1]
Chromosome 5 (human)
Genomic location for PCDH1
Genomic location for PCDH1
Band5q31.3Start141,853,090 bp[1]
End141,879,246 bp[1]
Gene location (Mouse)
Chromosome 18 (mouse)
Chr.Chromosome 18 (mouse)[2]
Chromosome 18 (mouse)
Genomic location for PCDH1
Genomic location for PCDH1
Band18 B3|18 20.08 cMStart38,318,967 bp[2]
End38,345,106 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • mucosa of pharynx

  • beta cell

  • mucosa of transverse colon

  • right lung

  • minor salivary glands

  • skin of arm

  • apex of heart

  • upper lobe of left lung

  • skin of leg

  • olfactory zone of nasal mucosa
Top expressed in
  • dentate gyrus of hippocampal formation granule cell

  • superior frontal gyrus

  • esophagus

  • lip

  • primary visual cortex

  • yolk sac

  • genital tubercle

  • tail of embryo

  • intestinal villus

  • epithelium of small intestine
More reference expression data
BioGPS
More reference expression data
Gene ontology
Molecular function
  • calcium ion binding
Cellular component
  • integral component of membrane
  • plasma membrane
  • integral component of plasma membrane
  • membrane
  • cell-cell junction
  • nucleus
  • nucleolus
  • cell junction
  • intracellular membrane-bounded organelle
Biological process
  • cell-cell signaling
  • cell adhesion
  • nervous system development
  • homophilic cell adhesion via plasma membrane adhesion molecules
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

5097

75599

Ensembl

ENSG00000156453

ENSMUSG00000051375

UniProt

Q08174

n/a

RefSeq (mRNA)

NM_001278613
NM_001278615
NM_002587
NM_032420

NM_029357

RefSeq (protein)

NP_001265542
NP_001265544
NP_002578
NP_115796

n/a

Location (UCSC)Chr 5: 141.85 – 141.88 MbChr 18: 38.32 – 38.35 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Protocadherin-1 is a protein that in humans is encoded by the PCDH1 gene.[5][6]

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 extracellular 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.[6]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000156453 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000051375 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Sano K, Tanihara H, Heimark RL, Obata S, Davidson M, St John T, Taketani S, Suzuki S (Jul 1993). "Protocadherins: a large family of cadherin-related molecules in central nervous system". EMBO J. 12 (6): 2249–56. doi:10.1002/j.1460-2075.1993.tb05878.x. PMC 413453. PMID 8508762.
  6. ^ a b "Entrez Gene: PCDH1 protocadherin 1".

Further reading

  • Yagi T, Takeichi M (2000). "Cadherin superfamily genes: functions, genomic organization, and neurologic diversity". Genes Dev. 14 (10): 1169–80. doi:10.1101/gad.14.10.1169. PMID 10817752. S2CID 44844497.
  • Nollet F, Kools P, van Roy F (2000). "Phylogenetic analysis of the cadherin superfamily allows identification of six major subfamilies besides several solitary members". J. Mol. Biol. 299 (3): 551–72. doi:10.1006/jmbi.2000.3777. PMID 10835267.
  • Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548.
  • Del Mastro RG, Wang L, Simmons AD, et al. (1997). "Human chromosome-specific cDNA libraries: new tools for gene identification and genome annotation". Genome Res. 5 (2): 185–94. doi:10.1101/gr.5.2.185. PMID 9132272.
  • Wu Q, Maniatis T (2000). "Large exons encoding multiple ectodomains are a characteristic feature of protocadherin genes". Proc. Natl. Acad. Sci. U.S.A. 97 (7): 3124–9. doi:10.1073/pnas.060027397. PMC 16203. PMID 10716726.
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
  • Colland F, Jacq X, Trouplin V, et al. (2004). "Functional Proteomics Mapping of a Human Signaling Pathway". Genome Res. 14 (7): 1324–32. doi:10.1101/gr.2334104. PMC 442148. PMID 15231748.
  • Ballif BA, Villén J, Beausoleil SA, et al. (2005). "Phosphoproteomic analysis of the developing mouse brain". Mol. Cell. Proteomics. 3 (11): 1093–101. doi:10.1074/mcp.M400085-MCP200. PMID 15345747. S2CID 18659460.
  • Rush J, Moritz A, Lee KA, et al. (2005). "Immunoaffinity profiling of tyrosine phosphorylation in cancer cells". Nat. Biotechnol. 23 (1): 94–101. doi:10.1038/nbt1046. PMID 15592455. S2CID 7200157.
  • Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID 16189514. S2CID 4427026.
  • Otsuki T, Ota T, Nishikawa T, et al. (2007). "Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries". DNA Res. 12 (2): 117–26. doi:10.1093/dnares/12.2.117. PMID 16303743.


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