PCDHA4

Protein-coding gene in the species Homo sapiens
PCDHA4
Available structures
PDBOrtholog search: PDBe RCSB
List of PDB id codes

1WUZ

Identifiers
AliasesPCDHA4, CNR1, CNRN1, CRNR1, PCDH-ALPHA4, protocadherin alpha 4
External IDsOMIM: 606310; MGI: 1298406; HomoloGene: 130626; GeneCards: PCDHA4; OMA:PCDHA4 - orthologs
Gene location (Human)
Chromosome 5 (human)
Chr.Chromosome 5 (human)[1]
Chromosome 5 (human)
Genomic location for PCDHA4
Genomic location for PCDHA4
Band5q31.3Start140,806,929 bp[1]
End141,012,347 bp[1]
Gene location (Mouse)
Chromosome 18 (mouse)
Chr.Chromosome 18 (mouse)[2]
Chromosome 18 (mouse)
Genomic location for PCDHA4
Genomic location for PCDHA4
Band18|18 B2- B3Start37,085,701 bp[2]
End37,320,714 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • stromal cell of endometrium

  • islet of Langerhans

  • prefrontal cortex

  • ganglionic eminence

  • gallbladder

  • superior frontal gyrus

  • ventricular zone

  • cerebellum

  • cerebellar cortex

  • cerebellar hemisphere
Top expressed in
  • hippocampus proper

  • dentate gyrus of hippocampal formation granule cell

  • embryo

  • granular layer

  • Cortex of frontal lobe

  • primary visual cortex

  • superior frontal gyrus

  • granular layer of dentate gyrus

  • Purkinje cell

  • Region I of hippocampus proper
More reference expression data
BioGPS
n/a
Gene ontology
Molecular function
  • protein binding
  • calcium ion binding
  • metal ion binding
  • identical protein binding
Cellular component
  • integral component of membrane
  • plasma membrane
  • integral component of plasma membrane
  • membrane
  • endoplasmic reticulum
  • synapse
Biological process
  • cell adhesion
  • nervous system development
  • homophilic cell adhesion via plasma membrane adhesion molecules
  • cell-cell signaling
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

56144

12936

Ensembl

ENSG00000204967

ENSMUSG00000104252

UniProt

Q9UN74

O88689

RefSeq (mRNA)

NM_031500
NM_018907

NM_007766

RefSeq (protein)

NP_061730
NP_113688

NP_001167625

Location (UCSC)Chr 5: 140.81 – 141.01 MbChr 18: 37.09 – 37.32 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Protocadherin alpha-4 is a protein that in humans is encoded by the PCDHA4 gene.[5][6][7]

This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined.[7]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000204967 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000104252 – 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. ^ Wu Q, Maniatis T (Jul 1999). "A striking organization of a large family of human neural cadherin-like cell adhesion genes". Cell. 97 (6): 779–90. doi:10.1016/S0092-8674(00)80789-8. PMID 10380929. S2CID 6014717.
  6. ^ Sugino H, Hamada S, Yasuda R, Tuji A, Matsuda Y, Fujita M, Yagi T (Apr 2000). "Genomic organization of the family of CNR cadherin genes in mice and humans". Genomics. 63 (1): 75–87. doi:10.1006/geno.1999.6066. PMID 10662547.
  7. ^ a b "Entrez Gene: PCDHA4 protocadherin alpha 4".

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.
  • Senzaki K, Ogawa M, Yagi T (2000). "Proteins of the CNR family are multiple receptors for Reelin". Cell. 99 (6): 635–47. doi:10.1016/S0092-8674(00)81552-4. PMID 10612399. S2CID 14277878.
  • 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.
  • Wu Q, Zhang T, Cheng JF, et al. (2001). "Comparative DNA Sequence Analysis of Mouse and Human Protocadherin Gene Clusters". Genome Res. 11 (3): 389–404. doi:10.1101/gr.167301. PMC 311048. PMID 11230163.
  • 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.
  • Schmutz J, Martin J, Terry A, et al. (2004). "The DNA sequence and comparative analysis of human chromosome 5" (PDF). Nature. 431 (7006): 268–74. Bibcode:2004Natur.431..268S. doi:10.1038/nature02919. PMID 15372022. S2CID 4373053.
  • Stelzl U, Worm U, Lalowski M, et al. (2005). "A human protein-protein interaction network: a resource for annotating the proteome". Cell. 122 (6): 957–68. doi:10.1016/j.cell.2005.08.029. hdl:11858/00-001M-0000-0010-8592-0. PMID 16169070. S2CID 8235923.
  • Overview of all the structural information available in the PDB for UniProt: O88689 (Mouse Protocadherin alpha-4) at the PDBe-KB.
  • v
  • t
  • e
  • 1wuz: Structure of EC1 domain of CNR
    1wuz: Structure of EC1 domain of CNR


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