PCDHGA11

Protein-coding gene in the species Homo sapiens
PCDHGA11
Identifiers
AliasesPCDHGA11, PCDH-GAMMA-A11, protocadherin gamma subfamily A, 11
External IDsOMIM: 606298; MGI: 1935228; HomoloGene: 110934; GeneCards: PCDHGA11; OMA:PCDHGA11 - orthologs
Gene location (Human)
Chromosome 5 (human)
Chr.Chromosome 5 (human)[1]
Chromosome 5 (human)
Genomic location for PCDHGA11
Genomic location for PCDHGA11
Band5q31.3Start141,421,047 bp[1]
End141,512,975 bp[1]
Gene location (Mouse)
Chromosome 18 (mouse)
Chr.Chromosome 18 (mouse)[2]
Chromosome 18 (mouse)
Genomic location for PCDHGA11
Genomic location for PCDHGA11
Band18|18 B3Start37,888,784 bp[2]
End37,974,926 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • testicle

  • stromal cell of endometrium

  • ventricular zone

  • ganglionic eminence

  • Achilles tendon

  • sural nerve

  • apex of heart

  • left ventricle

  • right coronary artery

  • Descending thoracic aorta
Top expressed in
  • ganglionic eminence

  • olfactory bulb

  • hippocampus proper

  • striatum of neuraxis

  • mesencephalon

  • rhombencephalon

  • neural tube

  • cerebellum

  • dentate gyrus of hippocampal formation granule cell

  • ventricular zone
More reference expression data
BioGPS
n/a
Gene ontology
Molecular function
  • calcium ion binding
Cellular component
  • integral component of membrane
  • plasma membrane
  • membrane
  • integral component of plasma membrane
Biological process
  • homophilic cell adhesion via plasma membrane adhesion molecules
  • cell adhesion
  • cell-cell signaling
  • nervous system development
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

56105

93723

Ensembl

ENSG00000253873

ENSMUSG00000102742

UniProt

Q9Y5H2

Q91XY8

RefSeq (mRNA)

NM_032092
NM_018914
NM_032091

NM_033594

RefSeq (protein)

NP_061737
NP_114480
NP_114481

NP_291072

Location (UCSC)Chr 5: 141.42 – 141.51 MbChr 18: 37.89 – 37.97 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Protocadherin gamma-A11 is a protein that in humans is encoded by the PCDHGA11 gene.[5][6]

This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome 5. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression.

The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region.

These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes.[6]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000253873 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000102742 – 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. ^ a b "Entrez Gene: PCDHGA11 protocadherin gamma subfamily A, 11".

Further reading

  • 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.
  • 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.
  • Waha A, Güntner S, Huang TH, et al. (2005). "Epigenetic silencing of the protocadherin family member PCDH-gamma-A11 in astrocytomas". Neoplasia. 7 (3): 193–9. doi:10.1593/neo.04490. PMC 1501138. PMID 15799819.
  • 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.
  • Dias Neto E, Correa RG, Verjovski-Almeida S, et al. (2000). "Shotgun sequencing of the human transcriptome with ORF expressed sequence tags". Proc. Natl. Acad. Sci. U.S.A. 97 (7): 3491–6. Bibcode:2000PNAS...97.3491D. doi:10.1073/pnas.97.7.3491. PMC 16267. PMID 10737800.
  • 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.
  • Adams MD, Kerlavage AR, Fleischmann RD, et al. (1995). "Initial assessment of human gene diversity and expression patterns based upon 83 million nucleotides of cDNA sequence" (PDF). Nature. 377 (6547 Suppl): 3–174. PMID 7566098.