P78509 (RELN_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 130.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Reelin EC=3.4.21.- | ||
| Gene names |
| ||
| Organism | Homo sapiens (Human) [Reference proteome] | ||
| Taxonomic identifier | 9606 [NCBI] | ||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 3460 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is further processed into a mature form. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| 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. |
| Subunit structure | Binds to the ectodomains of VLDLR and LRP8/APOER2 By similarity. |
| Subcellular 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. Ref.5 |
| 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 By similarity. |
| 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. |
| Involvement in disease | Lissencephaly 2 (LIS2) [MIM:257320]: A classic type lissencephaly associated with ataxia, mental retardation, seizures and abnormalities of the cerebellum, hippocampus and brainstem. |
| Sequence similarities | Belongs to the reelin family. Contains 16 BNR repeats. Contains 8 EGF-like domains. Contains 1 reelin domain. |
Ontologies
Alternative products
| This entry describes 3 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: P78509-1) This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. | ||||||
| Isoform 2 (identifier: P78509-2) The sequence of this isoform differs from the canonical sequence as follows: 3428-3429: Missing. | ||||||
| Isoform 3 (identifier: P78509-3) The sequence of this isoform differs from the canonical sequence as follows: 3428-3460: Missing. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||||
Molecule processing | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Signal peptide | 1 – 25 | 25 | Potential | ||||||||
| Chain | 26 – 3460 | 3435 | Reelin | PRO_0000030304 | |||||||
Regions | |||||||||||
| Domain | 26 – 190 | 165 | Reelin | ||||||||
| Repeat | 592 – 603 | 12 | BNR 1 | ||||||||
| Domain | 670 – 701 | 32 | EGF-like 1 | ||||||||
| Repeat | 798 – 809 | 12 | BNR 2 | ||||||||
| Repeat | 951 – 962 | 12 | BNR 3 | ||||||||
| Domain | 1029 – 1060 | 32 | EGF-like 2 | ||||||||
| Repeat | 1156 – 1167 | 12 | BNR 4 | ||||||||
| Repeat | 1322 – 1333 | 12 | BNR 5 | ||||||||
| Domain | 1408 – 1441 | 34 | EGF-like 3 | ||||||||
| Repeat | 1534 – 1545 | 12 | BNR 6 | ||||||||
| Repeat | 1685 – 1696 | 12 | BNR 7 | ||||||||
| Domain | 1764 – 1795 | 32 | EGF-like 4 | ||||||||
| Repeat | 1883 – 1894 | 12 | BNR 8 | ||||||||
| Repeat | 2042 – 2053 | 12 | BNR 9 | ||||||||
| Domain | 2128 – 2160 | 33 | EGF-like 5 | ||||||||
| Repeat | 2249 – 2260 | 12 | BNR 10 | ||||||||
| Repeat | 2398 – 2409 | 12 | BNR 11 | ||||||||
| Domain | 2477 – 2508 | 32 | EGF-like 6 | ||||||||
| Repeat | 2597 – 2608 | 12 | BNR 12 | ||||||||
| Repeat | 2777 – 2788 | 12 | BNR 13 | ||||||||
| Domain | 2852 – 2883 | 32 | EGF-like 7 | ||||||||
| Repeat | 2978 – 2989 | 12 | BNR 14 | ||||||||
| Repeat | 3142 – 3154 | 13 | BNR 15 | ||||||||
| Domain | 3227 – 3259 | 33 | EGF-like 8 | ||||||||
| Repeat | 3362 – 3373 | 12 | BNR 16 | ||||||||
| Compositional bias | 3431 – 3460 | 30 | Arg-rich (basic) | ||||||||
Sites | |||||||||||
| Metal binding | 2060 | 1 | Zinc 1 By similarity | ||||||||
| Metal binding | 2073 | 1 | Zinc 1 By similarity | ||||||||
| Metal binding | 2178 | 1 | Zinc 1 By similarity | ||||||||
| Metal binding | 2263 | 1 | Zinc 1 By similarity | ||||||||
| Metal binding | 2396 | 1 | Zinc 2 By similarity | ||||||||
| Metal binding | 2398 | 1 | Zinc 2 By similarity | ||||||||
| Metal binding | 2459 | 1 | Zinc 2 By similarity | ||||||||
Amino acid modifications | |||||||||||
| Glycosylation | 140 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 257 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 289 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 305 | 1 | N-linked (GlcNAc...) Ref.9 | ||||||||
| Glycosylation | 628 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 1266 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 1599 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 1749 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 1920 | 1 | N-linked (GlcNAc...) Ref.9 | ||||||||
| Glycosylation | 2144 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 2268 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 2316 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 2568 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 2961 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 3015 | 1 | N-linked (GlcNAc...) Ref.9 | ||||||||
| Glycosylation | 3072 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 3184 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 3411 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 3438 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Disulfide bond | 40 ↔ 126 | By similarity | |||||||||
| Disulfide bond | 154 ↔ 178 | By similarity | |||||||||
| Disulfide bond | 539 ↔ 580 | By similarity | |||||||||
| Disulfide bond | 608 ↔ 613 | By similarity | |||||||||
| Disulfide bond | 674 ↔ 684 | By similarity | |||||||||
| Disulfide bond | 691 ↔ 700 | By similarity | |||||||||
| Disulfide bond | 894 ↔ 936 | By similarity | |||||||||
| Disulfide bond | 967 ↔ 974 | By similarity | |||||||||
| Disulfide bond | 1033 ↔ 1043 | By similarity | |||||||||
| Disulfide bond | 1050 ↔ 1059 | By similarity | |||||||||
| Disulfide bond | 1270 ↔ 1309 | By similarity | |||||||||
| Disulfide bond | 1338 ↔ 1347 | By similarity | |||||||||
| Disulfide bond | 1632 ↔ 1672 | By similarity | |||||||||
| Disulfide bond | 1701 ↔ 1708 | By similarity | |||||||||
| Disulfide bond | 2132 ↔ 2142 | By similarity | |||||||||
| Disulfide bond | 2136 ↔ 2148 | By similarity | |||||||||
| Disulfide bond | 2150 ↔ 2159 | By similarity | |||||||||
| Disulfide bond | 2194 ↔ 2234 | By similarity | |||||||||
| Disulfide bond | 2347 ↔ 2386 | By similarity | |||||||||
| Disulfide bond | 2392 ↔ 2558 | By similarity | |||||||||
| Disulfide bond | 2543 ↔ 2583 | By similarity | |||||||||
| Disulfide bond | 2793 ↔ 2800 | By similarity | |||||||||
| Disulfide bond | 2856 ↔ 2866 | By similarity | |||||||||
| Disulfide bond | 2860 ↔ 2871 | By similarity | |||||||||
| Disulfide bond | 2873 ↔ 2882 | By similarity | |||||||||
| Disulfide bond | 2918 ↔ 2965 | By similarity | |||||||||
| Disulfide bond | 3159 ↔ 3169 | By similarity | |||||||||
| Disulfide bond | 3231 ↔ 3241 | By similarity | |||||||||
| Disulfide bond | 3235 ↔ 3247 | By similarity | |||||||||
| Disulfide bond | 3249 ↔ 3258 | By similarity | |||||||||
| Disulfide bond | 3295 ↔ 3345 | By similarity | |||||||||
Natural variations | |||||||||||
| Alternative sequence | 3428 – 3460 | 33 | Missing in isoform 3. | VSP_005576 | |||||||
| Alternative sequence | 3428 – 3429 | 2 | Missing in isoform 2. | VSP_005575 | |||||||
| Natural variant | 978 | 1 | T → A. Corresponds to variant rs3025962 [ dbSNP | Ensembl ]. | VAR_047977 | |||||||
| Natural variant | 997 | 1 | L → V. Corresponds to variant rs362691 [ dbSNP | Ensembl ]. | VAR_047978 | |||||||
| Natural variant | 1703 | 1 | P → R. Corresponds to variant rs2229860 [ dbSNP | Ensembl ]. | VAR_057712 | |||||||
Experimental info | |||||||||||
| Sequence conflict | 752 | 1 | D → E in AAC51105. Ref.1 | ||||||||
Sequences
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References
Web resources
| Wikipedia Reelin entry |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | U79716 mRNA. Translation: AAC51105.1. AC002067 Genomic DNA. Translation: AAM49151.1. AC006981 Genomic DNA. No translation available. AC073208 Genomic DNA. Translation: AAP22355.1. AC005101 Genomic DNA. Translation: AAP22330.1. AC000121 Genomic DNA. Translation: AAB46357.2. AC006316 Genomic DNA. Translation: AAD29127.1. AC005064 Genomic DNA. No translation available. CH236947 Genomic DNA. Translation: EAL24410.1. CH236947 Genomic DNA. Translation: EAL24411.1. |
| IPI | IPI00241562. IPI00294776. IPI00847589. |
| RefSeq | NP_005036.2. NM_005045.3. NP_774959.1. NM_173054.2. |
| UniGene | Hs.655654. |
3D structure databases | |
| ProteinModelPortal | P78509. |
| SMR | P78509. Positions 1293-1596, 1955-2661. |
| ModBase | Search... |
Protein-protein interaction databases | |
| STRING | 9606.ENSP00000392423. |
PTM databases | |
| PhosphoSite | P78509. |
Polymorphism databases | |
| DMDM | 296452988. |
Proteomic databases | |
| PaxDb | P78509. |
| PRIDE | P78509. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000343529; ENSP00000345694; ENSG00000189056. ENST00000428762; ENSP00000392423; ENSG00000189056. |
| GeneID | 5649. |
| KEGG | hsa:5649. |
| UCSC | uc010liz.3. human. uc022ajq.1. human. |
Organism-specific databases | |
| CTD | 5649. |
| GeneCards | GC07M103112. |
| H-InvDB | HIX0033998. HIX0201200. |
| HGNC | HGNC:9957. RELN. |
| HPA | CAB004556. |
| MIM | 257320. phenotype. 600514. gene. |
| neXtProt | NX_P78509. |
| Orphanet | 89844. Lissencephaly syndrome, Norman-Roberts type. |
| PharmGKB | PA34323. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG45680. |
| HOVERGEN | HBG023117. |
| InParanoid | P78509. |
| KO | K06249. |
| OMA | RDFGATW. |
| OrthoDB | EOG4GB757. |
Enzyme and pathway databases | |
| Pathway_Interaction_DB | lis1pathway. Lissencephaly gene (LIS1) in neuronal migration and development. reelinpathway. Reelin signaling pathway. |
Gene expression databases | |
| ArrayExpress | P78509. |
| Bgee | P78509. |
| CleanEx | HS_RELN. |
| Genevestigator | P78509. |
| GermOnline | ENSG00000189056. Homo sapiens. |
Family and domain databases | |
| Gene3D | 2.120.10.10. 2 hits. |
| InterPro | IPR000742. EG-like_dom. IPR013032. EGF-like_CS. IPR002861. Reeler_dom. IPR011040. Sialidases. [Graphical view] |
| Pfam | PF02014. Reeler. 1 hit. [Graphical view] |
| SMART | SM00181. EGF. 5 hits. [Graphical view] |
| SUPFAM | SSF50939. Sialidase. 3 hits. |
| PROSITE | PS00022. EGF_1. 7 hits. PS01186. EGF_2. 6 hits. PS50026. EGF_3. 5 hits. PS51019. REELIN. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| GenomeRNAi | 5649. |
| NextBio | 21946. |
| SOURCE | Search... |
Entry information
| Entry name | RELN_HUMAN | ||||||||
| Accession | Primary (citable) accession number: P78509 Secondary accession number(s): A4D0P9 Q9UDQ2 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. | ||||||||
Relevant documents
| Human chromosome 7 Human chromosome 7: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with
