Homo sapiens Protein: RELN
Summary
InnateDB Protein IDBP-34524.7
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol RELN
Protein Name reelin
Synonyms LIS2; PRO1598; RL;
Species Homo sapiens
Ensembl Protein ENSP00000345694
InnateDB Gene IDBG-34522 (RELN)
Protein Structure
UniProt Annotation
Function Extracellular matrix serine protease that plays a role in layering of neurons in the cerebral cortex and cerebellum. Regulates microtubule function in neurons and neuronal migration. 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. Binding to the extracellular domains of lipoprotein receptors VLDLR and LRP8/APOER2 induces tyrosine phosphorylation of DAB1 and modulation of TAU phosphorylation (By similarity). {ECO:0000250}.
Subcellular Localization Secreted, extracellular space, extracellular matrix {ECO:0000250}.
Disease Associations Lissencephaly 2 (LIS2) [MIM:257320]: A classic type lissencephaly associated with ataxia, mental retardation, seizures and abnormalities of the cerebellum, hippocampus and brainstem. {ECO:0000269PubMed:10973257}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity 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. {ECO:0000269PubMed:9861036}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 7 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 9 [view]
Protein-Protein 7 [view]
Protein-DNA 2 [view]
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:0004712 protein serine/threonine/tyrosine kinase activity
GO:0005515 protein binding
GO:0008236 serine-type peptidase activity
GO:0046872 metal ion binding
GO:0070325 lipoprotein particle receptor binding
GO:0070326 very-low-density lipoprotein particle receptor binding
Biological Process
GO:0000904 cell morphogenesis involved in differentiation
GO:0001764 neuron migration
GO:0006508 proteolysis
GO:0007155 cell adhesion
GO:0007411 axon guidance
GO:0007417 central nervous system development
GO:0007420 brain development
GO:0010001 glial cell differentiation
GO:0010976 positive regulation of neuron projection development
GO:0018108 peptidyl-tyrosine phosphorylation
GO:0021511 spinal cord patterning
GO:0021766 hippocampus development
GO:0021800 cerebral cortex tangential migration
GO:0032793 positive regulation of CREB transcription factor activity
GO:0038026 reelin-mediated signaling pathway
GO:0045860 positive regulation of protein kinase activity
GO:0048265 response to pain
GO:0050731 positive regulation of peptidyl-tyrosine phosphorylation
GO:0050795 regulation of behavior
GO:0050804 regulation of synaptic transmission
GO:0051057 positive regulation of small GTPase mediated signal transduction
GO:0051968 positive regulation of synaptic transmission, glutamatergic
GO:0061003 positive regulation of dendritic spine morphogenesis
GO:0061098 positive regulation of protein tyrosine kinase activity
GO:0090129 positive regulation of synapse maturation
GO:1900273 positive regulation of long-term synaptic potentiation
GO:2000310 regulation of N-methyl-D-aspartate selective glutamate receptor activity
GO:2000463 positive regulation of excitatory postsynaptic membrane potential
GO:2000969 positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity
Cellular Component
GO:0005578 proteinaceous extracellular matrix
GO:0005615 extracellular space
GO:0005737 cytoplasm
GO:0030425 dendrite
Protein Structure and Domains
PDB ID
InterPro IPR000742 Epidermal growth factor-like domain
IPR002860 BNR repeat
IPR002861 Reeler domain
IPR009030 Insulin-like growth factor binding protein, N-terminal
IPR011040 Sialidases
IPR013111 EGF-like domain, extracellular
PFAM PF00008
PF02012
PF02014
PF07974
PRINTS
PIRSF
SMART SM00181
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt P78509
PhosphoSite PhosphoSite-P78509
TrEMBL Q75MM8
UniProt Splice Variant
Entrez Gene 5649
UniGene Hs.655654
RefSeq NP_774959
HUGO HGNC:9957
OMIM 600514
CCDS CCDS34722
HPRD 02742
IMGT
EMBL AC000121 AC002067 AC005064 AC005101 AC006316 AC006981 AC073208 CH236947 U79716
GenPept AAB46357 AAC51105 AAD29127 AAM49151 AAP22330 AAP22355 AAS02019 EAL24410 EAL24411