InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: GPR56

Summary

InnateDB Protein

IDBP-33519.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

GPR56

Protein Name

G protein-coupled receptor 56

Synonyms

BFPP; BPPR; TM7LN4; TM7XN1;

Species

Homo sapiens

Ensembl Protein

ENSP00000373465

InnateDB Gene

IDBG-33507 (GPR56)

Protein Structure

UniProt Annotation

Function

Involved in cell adhesion and probably in cell-cell interactions. Regulates the migration of neural precursor cells. Receptor for collagen III/COL3A1 in the developing brain and involved in regulation of cortical development, specifically in maintenance of the pial basemant membrane integrity and in cortical lamination. Binding to the COL3A1 ligand inhibits neuronal migration and activates the RhoA pathway by coupling to GNA13 and possibly GNA12. Isoforms show differences in receptor signaling, specifically in serum response element (SRE) transcriptional activation upon overexpression. Overexpression inhibits melanoma tumor growth and metastasis and, during melanoma progression, regulates VEGFA production and angiogenesis through PRKCA; unprocessed GPR56 is inhibiting and GPR56 NT is activating angiogenesis. Required for normal cortical development and regulation of neuroprogenitor cells proliferation. {ECO:0000269PubMed:16757564, ECO:0000269PubMed:19572147, ECO:0000269PubMed:21708946, ECO:0000269PubMed:21724588, ECO:0000269PubMed:24531968}.

Subcellular Localization

Cell membrane {ECO:0000269PubMed:21349848}; Multi-pass membrane protein {ECO:0000269PubMed:21349848}.GPR56 N-terminal fragment: Secreted.

Disease Associations

Polymicrogyria, bilateral frontoparietal (BFPP) [MIM:606854]: A malformation of the cortex in which the brain surface is irregular and characterized by an excessive number of small gyri with abnormal lamination, most severe in the frontoparietal regions. BFPP clinical manifestations include developmental and psychomotor delay, cerebellar and pyramidal signs, truncal ataxia, seizures, hyperreflexia. Polymicrogyria is a heterogeneous disorder, considered to be the result of postmigratory abnormal cortical organization. {ECO:0000269PubMed:15044805, ECO:0000269PubMed:16240336, ECO:0000269PubMed:21723461}. Note=The disease is caused by mutations affecting the gene represented in this entry.Polymicrogyria, bilateral perisylvian, autosomal recessive (BPPR) [MIM:615752]: A form of polymicrogyria, a malformation of the cortex in which the brain surface is irregular and characterized by an excessive number of small gyri with abnormal lamination. BPPR is characterized by strikingly restricted polymicrogyria limited to the cortex surrounding the Sylvian fissure. Affected individuals have intellectual and language difficulty and seizures, but no motor disability. Polymicrogyria is a heterogeneous disorder, considered to be the result of post-migratory abnormal cortical organization. {ECO:0000269PubMed:24531968}. Note=The disease is caused by mutations affecting the gene represented in this entry. Homozygous deletion of 1 of 2 tandem 15-bp repeats located 144 bp upstream of the GPR56 non-coding exon 1m transcription start site, results in impaired perisylvian GPR56 expression and disruption of perisylvian gyri (PubMed:24531968). {ECO:0000269PubMed:24531968}.

Tissue Specificity

Widely distributed with highest levels found in thyroid gland, brain and heart. Expressed in a great number of tumor cells. Expression is down-regulated in different tumors from highly metastatic cells. {ECO:0000269PubMed:16757564}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 6 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	6 [view]
Protein-Protein	6 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004888	transmembrane signaling receptor activity
GO:0004930	G-protein coupled receptor activity
GO:0005518	collagen binding
GO:0050840	extracellular matrix binding

Biological Process

GO:0001525	angiogenesis
GO:0007155	cell adhesion
GO:0007166	cell surface receptor signaling pathway
GO:0007186	G-protein coupled receptor signaling pathway
GO:0007218	neuropeptide signaling pathway
GO:0007266	Rho protein signal transduction
GO:0007267	cell-cell signaling
GO:0007420	brain development
GO:0008285	negative regulation of cell proliferation
GO:0010573	vascular endothelial growth factor production
GO:0021801	cerebral cortex radial glia guided migration
GO:0021819	layer formation in cerebral cortex
GO:0035025	positive regulation of Rho protein signal transduction
GO:0045785	positive regulation of cell adhesion
GO:0070528	protein kinase C signaling
GO:2001223	negative regulation of neuron migration

Cellular Component

GO:0005886	plasma membrane
GO:0005887	integral component of plasma membrane
GO:0016020	membrane
GO:0016021	integral component of membrane
GO:0070062	extracellular vesicular exosome
GO:0097451	glial limiting end-foot