CSMD1

CSMD1 CUB and Sushi multiple domains 1 is a protein that in humans is encoded by the CSMD1 gene.^[5]

CSMD1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2EHF
Identifiers
Aliases	CSMD1, PPP1R24, CUB and Sushi multiple domains 1
External IDs	OMIM: 608397; MGI: 2137383; HomoloGene: 69536; GeneCards: CSMD1; OMA:CSMD1 - orthologs
Gene location (Human) Chr. Chromosome 8 (human)[1] Band 8p23.2 Start 2,935,353 bp[1] End 4,994,972 bp[1]
Gene location (Mouse) Chr. Chromosome 8 (mouse)[2] Band 8|8 A1.1- A1.3 Start 15,942,537 bp[2] End 17,585,602 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in Brodmann area 23 middle temporal gyrus primary visual cortex entorhinal cortex superior frontal gyrus postcentral gyrus Brodmann area 46 endothelial cell buccal mucosa cell gonad Top expressed in lumbar spinal ganglion primary visual cortex superior frontal gyrus dentate gyrus of hippocampal formation granule cell Amygdala nucleus accumbens piriform cortex ventricular zone olfactory tubercle prefrontal cortex More reference expression data BioGPS More reference expression data
Orthologs Species Human Mouse Entrez 64478 94109 Ensembl ENSG00000183117 ENSMUSG00000060924 UniProt Q96PZ7 Q923L3 RefSeq (mRNA) NM_033225 NM_053171 RefSeq (protein) NP_150094 NP_444401 Location (UCSC) Chr 8: 2.94 – 4.99 Mb Chr 8: 15.94 – 17.59 Mb PubMed search [3] [4]
Wikidata
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Structure

CSMD1 contains 14 N-terminal CUB domains that are separated from each other by a Sushi domains followed by an additional 15 tandem Sushi domain segment.^[6]

Function

Based on analogy to other proteins that contain Sushi domains, it is believed that the gene product of CSMD1 functions as a Complement control protein.^[6]

Clinical significance

It is a potential tumour suppressor, the deletion of which may result in head and neck carcinomas behaving more aggressively.^[7] CSMD1 protein expression was found to be reduced in patients with invasive breast cancer.^[8] Functional studies showed that CSMD1 reduction causes cells to transform to a cancer form by increasing their ability to divide, migrate and invade. In a three dimensional model of breast ducts, reduced CSMD1 expression failed breast duct formation.^[9]

Certain CSMD1 genetic variants have been found to show an association with risk of developing schizophrenia, consistent with emerging evidence that some forms of schizophrenia may result from dysregulated complement activation in the central nervous system resulting in excessive synaptic pruning.^[10]