DLG1

Source: Wikipedia, the free encyclopedia.
DLG1
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo / QuickGO
Ensembl
UniProt
RefSeq (mRNA)
RefSeq (protein)
Location (UCSC)Chr 3: 197.04 – 197.3 MbChr 16: 31.48 – 31.69 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Discs large homolog 1 (DLG1), also known as synapse-associated protein 97 or SAP97, is a scaffold protein that in humans is encoded by the SAP97 gene.

SAP97 is a mammalian

AMPAR
during synaptic plasticity.

Function

SAP97 is expressed throughout the body in epithelial cells, including the kidney and brain.

HPV. In the brain, SAP97's function is involved in the trafficking of transmembrane receptors from the ER to the plasma membrane.[6]

SAP97's function has been investigated by reducing its expression by

Overexpression of SAP97 in mammalian neurons leads to increased synaptic strength.[9]

Clinical significance

Mutations in DLG1 are associated to Crohn's disease.[10]

Structure

SAP97's protein structure consists of an alternatively-spliced N-terminal domain, three PDZ domains, an SH3 domain, hook domain, I3 domain, and finally an inactive guanylate kinase (GK) domain. Each of these domains has specific interacting partners that help define SAP97's unique function.

The N-terminal of SAP97 can be alternatively spliced to contain a double-cysteine/palmitoylation site (α-isoform), or an L27 domain (β-isoform. The L27 domain is involved in SAP97

oligomerization with other SAP97 molecules, CASK, and other L27-domain-containing proteins.[11] There is also a myosin VI binding site near N-terminal which may be involved in the internalization of AMPAR.[12][13]

Each of SAP97's PDZ domains have different binding partners, including the AMPAR subunit GluR1

GKAP
/SAPAP-family proteins.

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000075711Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000022770Ensembl, 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. PMID 7891172
    .
  6. .
  7. .
  8. .
  9. ^ .
  10. .
  11. .
  12. .
  13. .
  14. ]
  15. .

Further reading

External links

This page is based on the copyrighted Wikipedia article: DLG1. Articles is available under the CC BY-SA 3.0 license; additional terms may apply.Privacy Policy