SHROOM3

Protein shroom3 also known as shroom-related protein is a protein that in humans is encoded by the SHROOM3 gene.^[5][6][7]

SHROOM3
Identifiers
Aliases	SHROOM3, APXL3, SHRM, ShrmL, MSTP013, shroom family member 3
External IDs	OMIM: 604570; MGI: 1351655; HomoloGene: 9263; GeneCards: SHROOM3; OMA:SHROOM3 - orthologs
Gene location (Human) Chr. Chromosome 4 (human)[1] Band 4q21.1 Start 76,435,229 bp[1] End 76,783,253 bp[1]
Gene location (Mouse) Chr. Chromosome 5 (mouse)[2] Band 5 E2|5 47.29 cM Start 92,831,294 bp[2] End 93,113,177 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in mucosa of ileum pancreatic epithelial cell pancreatic ductal cell bronchial epithelial cell ventricular zone corpus epididymis retinal pigment epithelium sural nerve mucosa of colon mucosa of sigmoid colon Top expressed in Ileal epithelium lumbar spinal ganglion medullary collecting duct Paneth cell left colon submandibular gland epithelium of stomach ascending aorta aortic valve right lung More reference expression data BioGPS n/a
Gene ontology Molecular function actin filament binding actin binding Cellular component apical plasma membrane cell junction adherens junction cytoplasm apical junction complex microtubule cytoskeleton cortical actin cytoskeleton Biological process cellular pigment accumulation multicellular organism development apical protein localization regulation of cell shape neural tube closure epithelial cell development pattern specification process cell morphogenesis actin filament organization actin cytoskeleton organization Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 57619 27428 Ensembl ENSG00000138771 ENSMUSG00000029381 UniProt Q8TF72 Q9QXN0 RefSeq (mRNA) NM_020859 NM_001077595 NM_001077596 NM_015756 RefSeq (protein) NP_065910 NP_001071063 NP_001071064 NP_056571 Location (UCSC) Chr 4: 76.44 – 76.78 Mb Chr 5: 92.83 – 93.11 Mb PubMed search [3] [4]
Wikidata
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Protein shroom3 is a PDZ domain-containing protein that belongs to a family of Shroom-related proteins. This protein may be involved in regulating cell shape in certain tissues.

Clinical relevance

Mutations in this gene have been shown to cause heterotaxy.^[8] A similar protein in mice is required for proper neurulation,^[5][7] eye,^[9] and gut development.^[10][11]