positive regulation of axon extension involved in axon guidance
nervous system development
cell adhesion
dendrite self-avoidance
synapse assembly
positive regulation of phosphorylation
homophilic cell adhesion via plasma membrane adhesion molecules
axon guidance
netrin-activated signaling pathway
Sources:Amigo / QuickGO
Orthologs
Species
Human
Mouse
Entrez
1826
13508
Ensembl
ENSG00000171587
ENSMUSG00000050272
UniProt
O60469
Q9ERC8
RefSeq (mRNA)
NM_001271534 NM_001389
NM_031174
RefSeq (protein)
NP_001258463 NP_001380
NP_112451
Location (UCSC)
Chr 21: 40.01 – 40.85 Mb
Chr 16: 96.59 – 97.17 Mb
PubMed search
[3]
[4]
Wikidata
View/Edit Human
View/Edit Mouse
Down syndrome cell adhesion molecule, chordates
Identifiers
Symbol
DSCAM_chordates
InterPro
IPR033027
DSCAM and Dscam are both abbreviations for Down syndrome cell adhesion molecule.[5] In humans, DSCAM refers to a gene that encodes one of several protein isoforms.[6]
Down syndrome (DS), caused by trisomy 21, is the most common birth defect associated with intellectual disability. DSCAM plays a crucial role in the development of DS: it is expressed in the developing nervous system, with the highest level of expression occurring in the fetal brain. When over-expressed in the developing fetal central nervous system, it leads to Down syndrome.
A homologue of the Dscam protein in Drosophila melanogaster has 38,016 isoforms[7] arising from four variable exon clusters (12, 48, 33 and 2 alternatives, respectively).[5] By comparison, the entire Drosophila melanogaster genome only has 15,016 genes. The diversity of isoforms from alternative splicing of the Dscam1 gene in D. melanogaster allows every neuron in the fly to display a unique set of Dscam proteins on its cell surface. Dscam interaction stimulates neuronal self-avoidance mechanisms that are essential for normal neural circuit development.[8]
^ abcGRCh38: Ensembl release 89: ENSG00000171587 – Ensembl, May 2017
^ abcGRCm38: Ensembl release 89: ENSMUSG00000050272 – Ensembl, May 2017
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ abSchmucker D, Clemens JC, Shu H, Worby CA, Xiao J, Muda M, Dixon JE, Zipursky SL (June 2000). "Drosophila Dscam is an axon guidance receptor exhibiting extraordinary molecular diversity". Cell. 101 (6): 671–84. doi:10.1016/S0092-8674(00)80878-8. PMID 10892653.
^Alves-Sampaio, Alexandra; José Antonio Troca-Marín; María Luz Montesinos (6 October 2010). "NMDA-Mediated Regulation of DSCAM Dendritic Local Translation Is Lost in a Mouse Model of Down's Syndrome". The Journal of Neuroscience. 30 (40): 13537–13548. doi:10.1523/JNEUROSCI.3457-10.2010. PMC 6634725. PMID 20926679.
^Neves, G.; Zucker J; Daly M; Chess A. (February 2004). "Stochastic yet biased expression of multiple Dscam splice variants by individual cells". Nature Genetics. 36 (3): 240–246. doi:10.1038/ng1299. PMID 14758360.
DSCAM and Dscam are both abbreviations for Down syndrome cell adhesion molecule. In humans, DSCAM refers to a gene that encodes one of several protein...
currently estimated at around 20,000. One particular Drosophila gene, Dscam, has been speculated to be alternatively spliced into 38,000 different mRNAs...
fathers. Most commonly accepted theory of the specificity is based on Dscam gene. Dscam gene also known as Down syndrome cell adhesive molecule is a gene...
CADM1 and other Synaptic Cell Adhesion Molecules CD2 CD48 HEPACAM HEPACAM2 DSCAM - Down syndrome cell adhesion molecule Lajtha A, Banik NL, Banik N (2007)...
"record-holder" for alternative splicing is a D. melanogaster gene called Dscam, which could potentially have 38,016 splice variants. In 2021, it was discovered...
molecule like 1 is a protein in humans that is encoded by the DSCAML1 gene. DSCAM, Down syndrome cell adhesion molecule Fibronectin type III domain Immunoglobulin...
self-recognition/self-avoidance similar to that ascribed to DSCAM proteins of invertebrates. Although vertebrate DSCAMs lack the diversity of their invertebrate counterparts...
the most striking examples of alternative splicing is in the Drosophila DSCAM gene, which can give rise to approximately 30 thousand distinct alternatively...
more people with autism. These six genes — CHD8, DYRK1A, ANK2, GRIN2B, DSCAM and CHD2 — are the strongest autism candidates identified so far. Syndromes...
MARCM highlights individual cells inside of mutant clones (ref "Drosophila Dscam is required for divergent segregation of sister branches and suppresses...
Chinnaiyan AM, Feng FY. The lncRNA landscape of breast cancer reveals a role for DSCAM-AS1 in breast cancer progression. Nature Communications. 2016. Shukla S...
post-translational modifications and/or RNA-peptide editing as in the case of Dscam and cochlear sensory genes [9-14]. CSP genes evolved via duplication, intron...