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Details on Person UniProt:P78509-3 RELN
| Class:Id | ReferenceIsoform:152849 |
|---|---|
| _chainChangeLog | signal peptide:1-25 added on Sat February 7 2015;chain:26-3460 added on Sat February 7 2015 |
| _displayName | UniProt:P78509-3 RELN |
| _timestamp | 2024-11-03 19:43:06 |
| chain | signal peptide:1-25 chain:26-3460 |
| checksum | 9A398EC17FA4EE1B |
| comment | FUNCTION Extracellular matrix serine protease secreted by pioneer neurons that plays a role in layering of neurons in the cerebral cortex and cerebellum by coordinating cell positioning during neurodevelopment. Regulates microtubule function in neurons and neuronal migration. Binding to the extracellular domains of lipoprotein receptors VLDLR and LRP8/APOER2 induces tyrosine phosphorylation of DAB1 and modulation of TAU phosphorylation. Affects migration of sympathetic preganglionic neurons in the spinal cord, where it seems to act as a barrier to neuronal migration. Enzymatic activity is important for the modulation of cell adhesion.SUBUNIT Oligomer of disulfide-linked homodimers.SUBCELLULAR LOCATION Abundantly produced during brain ontogenesis by the Cajal-Retzius cells and other pioneer neurons located in the telencephalic marginal zone and by granule cells of the external granular layer of the cerebellum. In adult brain, preferentially expressed in GABAergic interneurons of prefrontal cortices, temporal cortex, hippocampus and glutamatergic granule cells of cerebellum. Expression is reduced to about 50% in patients with schizophrenia. Also expressed in fetal and adult liver.DEVELOPMENTAL STAGE Expressed in fetal and postnatal brain and liver. Expression in postnatal human brain is high in the cerebellum.DOMAIN The basic C-terminal region is essential for secretion.PTM N-glycosylated and to a lesser extent also O-glycosylated.POLYMORPHISM A polymorphic GGC triplet repeat located in the 5'-UTR region of RELN gene, which harbors in the normal population 8 to 10 repeats, is significantly increased in autistic patients to carry 4 to 23 additional repeats.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.SIMILARITY Belongs to the reelin family.ONLINE INFORMATION Reelin entry |
| description | recommendedName: fullName evidence="11"Reelin ecNumber evidence="1"3.4.21.- |
| geneName | RELN |
| identifier | P78509 |
| isoformParent | |
| isSequenceChanged | FALSE |
| keyword | 3D-structure Alternative splicing Calcium Cell adhesion Developmental protein Disease variant Disulfide bond EGF-like domain Epilepsy Extracellular matrix Glycoprotein Hydrolase Lissencephaly Metal-binding Protease Proteomics identification Reference proteome Repeat Secreted Serine protease Signal Zinc |
| modified | [InstanceEdit:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9862192] Weiser, Joel, 2024-02-26 [InstanceEdit:9917590] Weiser, Joel, 2024-08-09 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03 |
| name | RELN |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| referenceGene | [ReferenceDNASequence:8999721] ENSEMBL:ENSG00000189056 RELN [Homo sapiens] |
| secondaryIdentifier | RELN_HUMAN A4D0P9 A4D0Q0 Q86UJ0 Q86UJ8 Q8NDV0 Q9UDQ2 |
| sequenceLength | 3460 |
| species | [Species:48887] Homo sapiens |
| variantIdentifier | P78509-3 |
| [Change default viewing format] | |
No pathways have been reviewed or authored by UniProt:P78509-3 RELN (152849)
