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reelin
Function:
- extracellular matrix serine protease that plays a role in layering of neurons in the cerebral cortex & cerebellum
- regulates microtubule function in neurons & 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 & apoER2 induces Tyr phosphorylation o Dab1 & modulation of Tau phosphorylation (putative)
- binds to the ectodomains of VLDLR & apoER2
Structure:
- homolog of mouse protein derived from reeler gene
- the basic C-terminal region is essential for secretion
- belongs to the reelin family
- contains 16 BNR repeats
- contains 8 EGF-like domains
- contains 1 reelin domain
Compartment:
- secreted, extracellular space, extracellular matrix (putative)
Alternative splicing:
- named isoforms=3
Expression:
- abundantly produced during brain ontogenesisby the Cajal-Retzius cells & other pioneer neurons located in the telencephalic marginal zone & by granule cells of the external granular layer of the cerebellum
- in adult brain, preferentially expressed in GABAergic interneurons of the prefrontal cortex, temporal cortex, hippocampus & glutamatergic granule cells of cerebellum
- expression is reduced to about 50% in patients with schizophrenia
- also expressed in fetal & adult liver
- expressed in fetal & postnatal brain & liver
- expression in postnatal human brain is high in the cerebellum
Polymorphism:
- a polymorphic GGC triplet repeat located in the 5'-UTR region of RELN gene
a) in the normal population 8-10 repeats
b) 4-23 additional repeats in autistic patients
- a rare variant in RELN (H3447R, termed COLBOS confers resilience to autosomal dominant Alzheimer's disease
Pathology:
- defects in RELN are the cause of lissencephaly type 2
General
glycoprotein
secreted protein
Properties
SIZE: MW = 388 kD
entity length = 3460 aa
COMPARTMENT: extracellular compartment
MOTIF: N-glycosylation site {N140-305} (3)
N-glycosylation site {N628-N3411} (13)
EGF domain {670-3259} (7)
BNR {592-3373} (15)
basic region {3431-3460}
MOTIF: N-glycosylation site {N3438}
Database Correlations
OMIM correlations
UniProt P78509
Pfam PF02014
Entrez Gene 5649
References
- UniProt :accession P78509
- Wikipedia; Note: Reelin entry
http://en.wikipedia.org/wiki/Reelin
- OMIM :accession 600514
- Lopera F, Marino C, Chandrahas AS et al
Resilience to autosomal dominant Alzheimer's disease in a Reelin-COLBOS
heterozygous man.
Nat Med. 2023. May 15.
PMID: 37188781
https://www.nature.com/articles/s41591-023-02318-3