Homo sapiens Protein: GPR56 | |||||||||||||||||||||||||||||||||
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Summary | |||||||||||||||||||||||||||||||||
InnateDB Protein | IDBP-752250.3 | ||||||||||||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||||||||||||
Gene Symbol | GPR56 | ||||||||||||||||||||||||||||||||
Protein Name | |||||||||||||||||||||||||||||||||
Synonyms | BFPP; BPPR; TM7LN4; TM7XN1; | ||||||||||||||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||||||||||||||
Ensembl Protein | ENSP00000455215 | ||||||||||||||||||||||||||||||||
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.
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Gene Ontology | |||||||||||||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||||||||||||||||
PDB ID | |||||||||||||||||||||||||||||||||
InterPro |
IPR000203
GPS motif IPR000832 GPCR, family 2, secretin-like IPR003910 GPCR, family 2, orphan receptor, GPR56 IPR017981 GPCR, family 2-like |
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PFAM |
PF01825
PF00002 |
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PRINTS |
PR00249
PR01422 |
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PIRSF | |||||||||||||||||||||||||||||||||
SMART |
SM00303
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TIGRFAMs | |||||||||||||||||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||||||||||||||||
Modification | |||||||||||||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||||||||||||
SwissProt | Q9Y653 | ||||||||||||||||||||||||||||||||
PhosphoSite | PhosphoSite-Q9Y653 | ||||||||||||||||||||||||||||||||
TrEMBL | H3BVE9 | ||||||||||||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||||||||||||
Entrez Gene | 9289 | ||||||||||||||||||||||||||||||||
UniGene | Hs.513633 | ||||||||||||||||||||||||||||||||
RefSeq | NP_001277071 | ||||||||||||||||||||||||||||||||
HUGO | HGNC:4512 | ||||||||||||||||||||||||||||||||
OMIM | 604110 | ||||||||||||||||||||||||||||||||
CCDS | CCDS32460 | ||||||||||||||||||||||||||||||||
HPRD | 06824 | ||||||||||||||||||||||||||||||||
IMGT | |||||||||||||||||||||||||||||||||
EMBL | AB065909 AC018552 AF106858 AJ011001 AK131550 AK299110 AY358400 BC008770 BT007311 CH471092 CR936747 EU432119 | ||||||||||||||||||||||||||||||||
GenPept | AAD30545 AAH08770 AAP35975 AAQ88766 ABY87918 BAC06124 BAD18684 BAG61166 CAB37294 EAW82939 EAW82940 EAW82941 EAW82942 EAW82943 EAW82944 EAW82945 | ||||||||||||||||||||||||||||||||