RELN_HUMAN

Source: PM23856902
Marked as 'Non-membrane protein'
Confidence: low (only semi-automatic identification from reviews) Search PubMed for
(RBC AND this entry)
Gene names: RELN
Protein names and data: RELN_HUMAN , Reelin; 3.4.21.-; Flags: Precursor Lenght: 3460 a.a.
Mass: 388388 Da
fasta formatted sequence
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).
Disease:
Cellular location: Secreted, extracellular space, extracellular matrix (By similarity).
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.

Genetic variants

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.

Database cross-references

UniProt: P78509
Ensembl: ENST00000343529
Ensembl: ENST00000428762
MIM: 257320
MIM: 600514
neXtProt: NX_P78509
Antibodypedia: P78509 (may not find the protein thus also not any antibody)
Local full text data: click here

Users' comments

Login to add a comment.