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P78509

- RELN_HUMAN

UniProt

P78509 - RELN_HUMAN

Protein

Reelin

Gene

RELN

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 142 (01 Oct 2014)
      Sequence version 3 (18 May 2010)
      Previous versions | rss
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    Functioni

    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.By similarity

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Metal bindingi2060 – 20601Zinc 1By similarity
    Metal bindingi2073 – 20731Zinc 1By similarity
    Metal bindingi2178 – 21781Zinc 1By similarity
    Metal bindingi2263 – 22631Zinc 1By similarity
    Metal bindingi2396 – 23961Zinc 2By similarity
    Metal bindingi2398 – 23981Zinc 2By similarity
    Metal bindingi2459 – 24591Zinc 2By similarity

    GO - Molecular functioni

    1. lipoprotein particle receptor binding Source: BHF-UCL
    2. metal ion binding Source: UniProtKB-KW
    3. protein serine/threonine/tyrosine kinase activity Source: UniProtKB
    4. serine-type peptidase activity Source: UniProtKB-KW
    5. very-low-density lipoprotein particle receptor binding Source: BHF-UCL

    GO - Biological processi

    1. associative learning Source: Ensembl
    2. axon guidance Source: UniProtKB
    3. brain development Source: UniProtKB
    4. cell adhesion Source: UniProtKB-KW
    5. cell morphogenesis involved in differentiation Source: UniProtKB
    6. central nervous system development Source: UniProtKB
    7. cerebral cortex tangential migration Source: UniProtKB
    8. dendrite development Source: Ensembl
    9. glial cell differentiation Source: UniProtKB
    10. hippocampus development Source: BHF-UCL
    11. lateral motor column neuron migration Source: Ensembl
    12. long-term memory Source: Ensembl
    13. neuron migration Source: UniProtKB
    14. N-methyl-D-aspartate receptor clustering Source: Ensembl
    15. peptidyl-tyrosine phosphorylation Source: UniProtKB
    16. positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity Source: BHF-UCL
    17. positive regulation of CREB transcription factor activity Source: BHF-UCL
    18. positive regulation of dendritic spine morphogenesis Source: BHF-UCL
    19. positive regulation of excitatory postsynaptic membrane potential Source: BHF-UCL
    20. positive regulation of lateral motor column neuron migration Source: Ensembl
    21. positive regulation of long-term synaptic potentiation Source: BHF-UCL
    22. positive regulation of neuron projection development Source: BHF-UCL
    23. positive regulation of peptidyl-tyrosine phosphorylation Source: BHF-UCL
    24. positive regulation of phosphatidylinositol 3-kinase signaling Source: Ensembl
    25. positive regulation of protein kinase activity Source: UniProtKB
    26. positive regulation of protein tyrosine kinase activity Source: BHF-UCL
    27. positive regulation of small GTPase mediated signal transduction Source: UniProtKB
    28. positive regulation of synapse maturation Source: BHF-UCL
    29. positive regulation of synaptic transmission, glutamatergic Source: BHF-UCL
    30. positive regulation of TOR signaling Source: Ensembl
    31. postsynaptic density protein 95 clustering Source: Ensembl
    32. receptor localization to synapse Source: Ensembl
    33. reelin-mediated signaling pathway Source: BHF-UCL
    34. regulation of behavior Source: BHF-UCL
    35. regulation of N-methyl-D-aspartate selective glutamate receptor activity Source: BHF-UCL
    36. regulation of synaptic transmission Source: BHF-UCL
    37. response to pain Source: UniProtKB
    38. spinal cord patterning Source: UniProtKB
    39. ventral spinal cord development Source: Ensembl

    Keywords - Molecular functioni

    Developmental protein, Hydrolase, Protease, Serine protease

    Keywords - Biological processi

    Cell adhesion

    Keywords - Ligandi

    Calcium, Metal-binding, Zinc

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Reelin (EC:3.4.21.-)
    Gene namesi
    Name:RELN
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 7

    Organism-specific databases

    HGNCiHGNC:9957. RELN.

    Subcellular locationi

    GO - Cellular componenti

    1. cytoplasm Source: UniProtKB
    2. dendrite Source: UniProtKB
    3. extracellular space Source: UniProtKB
    4. proteinaceous extracellular matrix Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Extracellular matrix, Secreted

    Pathology & Biotechi

    Involvement in diseasei

    Lissencephaly 2 (LIS2) [MIM:257320]: A classic type lissencephaly associated with ataxia, mental retardation, seizures and abnormalities of the cerebellum, hippocampus and brainstem.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Keywords - Diseasei

    Lissencephaly

    Organism-specific databases

    MIMi257320. phenotype.
    Orphaneti89844. Lissencephaly syndrome, Norman-Roberts type.
    PharmGKBiPA34323.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 2525Sequence AnalysisAdd
    BLAST
    Chaini26 – 34603435ReelinPRO_0000030304Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Disulfide bondi40 ↔ 126PROSITE-ProRule annotation
    Glycosylationi140 – 1401N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi154 ↔ 178PROSITE-ProRule annotation
    Glycosylationi257 – 2571N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi289 – 2891N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi305 – 3051N-linked (GlcNAc...)1 Publication
    Disulfide bondi539 ↔ 580PROSITE-ProRule annotation
    Disulfide bondi608 ↔ 613PROSITE-ProRule annotation
    Glycosylationi628 – 6281N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi674 ↔ 684PROSITE-ProRule annotation
    Disulfide bondi691 ↔ 700PROSITE-ProRule annotation
    Disulfide bondi894 ↔ 936PROSITE-ProRule annotation
    Disulfide bondi967 ↔ 974PROSITE-ProRule annotation
    Disulfide bondi1033 ↔ 1043PROSITE-ProRule annotation
    Disulfide bondi1050 ↔ 1059PROSITE-ProRule annotation
    Glycosylationi1266 – 12661N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi1270 ↔ 1309PROSITE-ProRule annotation
    Disulfide bondi1338 ↔ 1347PROSITE-ProRule annotation
    Glycosylationi1599 – 15991N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi1632 ↔ 1672PROSITE-ProRule annotation
    Disulfide bondi1701 ↔ 1708PROSITE-ProRule annotation
    Glycosylationi1749 – 17491N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi1920 – 19201N-linked (GlcNAc...)1 Publication
    Disulfide bondi2100 – 2100InterchainPROSITE-ProRule annotation
    Disulfide bondi2132 ↔ 2142PROSITE-ProRule annotation
    Disulfide bondi2136 ↔ 2148PROSITE-ProRule annotation
    Glycosylationi2144 – 21441N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi2150 ↔ 2159PROSITE-ProRule annotation
    Disulfide bondi2194 ↔ 2234PROSITE-ProRule annotation
    Glycosylationi2268 – 22681N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi2316 – 23161N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi2347 ↔ 2386PROSITE-ProRule annotation
    Disulfide bondi2392 ↔ 2558PROSITE-ProRule annotation
    Disulfide bondi2543 ↔ 2583PROSITE-ProRule annotation
    Glycosylationi2568 – 25681N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi2793 ↔ 2800PROSITE-ProRule annotation
    Disulfide bondi2856 ↔ 2866PROSITE-ProRule annotation
    Disulfide bondi2860 ↔ 2871PROSITE-ProRule annotation
    Disulfide bondi2873 ↔ 2882PROSITE-ProRule annotation
    Disulfide bondi2918 ↔ 2965PROSITE-ProRule annotation
    Glycosylationi2961 – 29611N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi3015 – 30151N-linked (GlcNAc...)1 Publication
    Glycosylationi3072 – 30721N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi3159 ↔ 3169PROSITE-ProRule annotation
    Glycosylationi3184 – 31841N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi3231 ↔ 3241PROSITE-ProRule annotation
    Disulfide bondi3235 ↔ 3247PROSITE-ProRule annotation
    Disulfide bondi3249 ↔ 3258PROSITE-ProRule annotation
    Disulfide bondi3295 ↔ 3345PROSITE-ProRule annotation
    Glycosylationi3411 – 34111N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi3438 – 34381N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Disulfide bond, Glycoprotein

    Proteomic databases

    MaxQBiP78509.
    PaxDbiP78509.
    PRIDEiP78509.

    PTM databases

    PhosphoSiteiP78509.

    Expressioni

    Tissue specificityi

    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.1 Publication

    Developmental stagei

    Expressed in fetal and postnatal brain and liver. Expression in postnatal human brain is high in the cerebellum.

    Gene expression databases

    ArrayExpressiP78509.
    BgeeiP78509.
    CleanExiHS_RELN.
    GenevestigatoriP78509.

    Organism-specific databases

    HPAiCAB004556.

    Interactioni

    Subunit structurei

    Oligomer of disulfide-linked homodimers. Binds to the ectodomains of VLDLR and LRP8/APOER2 By similarity.By similarity

    Protein-protein interaction databases

    BioGridi111630. 5 interactions.
    MINTiMINT-155986.
    STRINGi9606.ENSP00000392423.

    Structurei

    3D structure databases

    ProteinModelPortaliP78509.
    SMRiP78509. Positions 1293-1596, 1955-2661.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini26 – 190165ReelinPROSITE-ProRule annotationAdd
    BLAST
    Repeati592 – 60312BNR 1Add
    BLAST
    Domaini670 – 70132EGF-like 1PROSITE-ProRule annotationAdd
    BLAST
    Repeati798 – 80912BNR 2Add
    BLAST
    Repeati951 – 96212BNR 3Add
    BLAST
    Domaini1029 – 106032EGF-like 2PROSITE-ProRule annotationAdd
    BLAST
    Repeati1156 – 116712BNR 4Add
    BLAST
    Repeati1322 – 133312BNR 5Add
    BLAST
    Domaini1408 – 144134EGF-like 3PROSITE-ProRule annotationAdd
    BLAST
    Repeati1534 – 154512BNR 6Add
    BLAST
    Repeati1685 – 169612BNR 7Add
    BLAST
    Domaini1764 – 179532EGF-like 4PROSITE-ProRule annotationAdd
    BLAST
    Repeati1883 – 189412BNR 8Add
    BLAST
    Repeati2042 – 205312BNR 9Add
    BLAST
    Domaini2128 – 216033EGF-like 5PROSITE-ProRule annotationAdd
    BLAST
    Repeati2249 – 226012BNR 10Add
    BLAST
    Repeati2398 – 240912BNR 11Add
    BLAST
    Domaini2477 – 250832EGF-like 6PROSITE-ProRule annotationAdd
    BLAST
    Repeati2597 – 260812BNR 12Add
    BLAST
    Repeati2777 – 278812BNR 13Add
    BLAST
    Domaini2852 – 288332EGF-like 7PROSITE-ProRule annotationAdd
    BLAST
    Repeati2978 – 298912BNR 14Add
    BLAST
    Repeati3142 – 315413BNR 15Add
    BLAST
    Domaini3227 – 325933EGF-like 8PROSITE-ProRule annotationAdd
    BLAST
    Repeati3362 – 337312BNR 16Add
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi3431 – 346030Arg-rich (basic)Add
    BLAST

    Domaini

    The basic C-terminal region is essential for secretion.By similarity

    Sequence similaritiesi

    Belongs to the reelin family.Curated
    Contains 16 BNR repeats.Curated
    Contains 8 EGF-like domains.PROSITE-ProRule annotation
    Contains 1 reelin domain.PROSITE-ProRule annotation

    Keywords - Domaini

    EGF-like domain, Repeat, Signal

    Phylogenomic databases

    eggNOGiNOG45680.
    HOVERGENiHBG023117.
    InParanoidiP78509.
    KOiK06249.
    OMAiNWFFYPG.
    OrthoDBiEOG7P2XR4.
    PhylomeDBiP78509.
    TreeFamiTF106479.

    Family and domain databases

    Gene3Di2.120.10.10. 2 hits.
    InterProiIPR000742. EG-like_dom.
    IPR013032. EGF-like_CS.
    IPR002861. Reeler_dom.
    IPR011040. Sialidases.
    [Graphical view]
    PfamiPF12661. hEGF. 2 hits.
    PF02014. Reeler. 1 hit.
    [Graphical view]
    SMARTiSM00181. EGF. 5 hits.
    [Graphical view]
    SUPFAMiSSF50939. SSF50939. 17 hits.
    PROSITEiPS00022. EGF_1. 7 hits.
    PS01186. EGF_2. 6 hits.
    PS50026. EGF_3. 5 hits.
    PS51019. REELIN. 1 hit.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: P78509-1) [UniParc]FASTAAdd to Basket

    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.

    « Hide

    MERSGWARQT FLLALLLGAT LRARAAAGYY PRFSPFFFLC THHGELEGDG     50
    EQGEVLISLH IAGNPTYYVP GQEYHVTIST STFFDGLLVT GLYTSTSVQA 100
    SQSIGGSSAF GFGIMSDHQF GNQFMCSVVA SHVSHLPTTN LSFIWIAPPA 150
    GTGCVNFMAT ATHRGQVIFK DALAQQLCEQ GAPTDVTVHP HLAEIHSDSI 200
    ILRDDFDSYH QLQLNPNIWV ECNNCETGEQ CGAIMHGNAV TFCEPYGPRE 250
    LITTGLNTTT ASVLQFSIGS GSCRFSYSDP SIIVLYAKNN SADWIQLEKI 300
    RAPSNVSTII HILYLPEDAK GENVQFQWKQ ENLRVGEVYE ACWALDNILI 350
    INSAHRQVVL EDSLDPVDTG NWLFFPGATV KHSCQSDGNS IYFHGNEGSE 400
    FNFATTRDVD LSTEDIQEQW SEEFESQPTG WDVLGAVIGT ECGTIESGLS 450
    MVFLKDGERK LCTPSMDTTG YGNLRFYFVM GGICDPGNSH ENDIILYAKI 500
    EGRKEHITLD TLSYSSYKVP SLVSVVINPE LQTPATKFCL RQKNHQGHNR 550
    NVWAVDFFHV LPVLPSTMSH MIQFSINLGC GTHQPGNSVS LEFSTNHGRS 600
    WSLLHTECLP EICAGPHLPH STVYSSENYS GWNRITIPLP NAALTRNTRI 650
    RWRQTGPILG NMWAIDNVYI GPSCLKFCSG RGQCTRHGCK CDPGFSGPAC 700
    EMASQTFPMF ISESFGSSRL SSYHNFYSIR GAEVSFGCGV LASGKALVFN 750
    KDGRRQLITS FLDSSQSRFL QFTLRLGSKS VLSTCRAPDQ PGEGVLLHYS 800
    YDNGITWKLL EHYSYLSYHE PRIISVELPG DAKQFGIQFR WWQPYHSSQR 850
    EDVWAIDEII MTSVLFNSIS LDFTNLVEVT QSLGFYLGNV QPYCGHDWTL 900
    CFTGDSKLAS SMRYVETQSM QIGASYMIQF SLVMGCGQKY TPHMDNQVKL 950
    EYSTNHGLTW HLVQEECLPS MPSCQEFTSA SIYHASEFTQ WRRVIVLLPQ 1000
    KTWSSATRFR WSQSYYTAQD EWALDSIYIG QQCPNMCSGH GSCDHGICRC 1050
    DQGYQGTECH PEAALPSTIM SDFENQNGWE SDWQEVIGGE IVKPEQGCGV 1100
    ISSGSSLYFS KAGKRQLVSW DLDTSWVDFV QFYIQIGGES ASCNKPDSRE 1150
    EGVLLQYSNN GGIQWHLLAE MYFSDFSKPR FVYLELPAAA KTPCTRFRWW 1200
    QPVFSGEDYD QWAVDDIIIL SEKQKQIIPV INPTLPQNFY EKPAFDYPMN 1250
    QMSVWLMLAN EGMVKNETFC AATPSAMIFG KSDGDRFAVT RDLTLKPGYV 1300
    LQFKLNIGCA NQFSSTAPVL LQYSHDAGMS WFLVKEGCYP ASAGKGCEGN 1350
    SRELSEPTMY HTGDFEEWTR ITIVIPRSLA SSKTRFRWIQ ESSSQKNVPP 1400
    FGLDGVYISE PCPSYCSGHG DCISGVCFCD LGYTAAQGTC VSNVPNHNEM 1450
    FDRFEGKLSP LWYKITGAQV GTGCGTLNDG KSLYFNGPGK REARTVPLDT 1500
    RNIRLVQFYI QIGSKTSGIT CIKPRTRNEG LIVQYSNDNG ILWHLLRELD 1550
    FMSFLEPQII SIDLPQDAKT PATAFRWWQP QHGKHSAQWA LDDVLIGMND 1600
    SSQTGFQDKF DGSIDLQANW YRIQGGQVDI DCLSMDTALI FTENIGKPRY 1650
    AETWDFHVSA STFLQFEMSM GCSKPFSNSH SVQLQYSLNN GKDWHLVTEE 1700
    CVPPTIGCLH YTESSIYTSE RFQNWKRITV YLPLSTISPR TRFRWIQANY 1750
    TVGADSWAID NVVLASGCPW MCSGRGICDA GRCVCDRGFG GPYCVPVVPL 1800
    PSILKDDFNG NLHPDLWPEV YGAERGNLNG ETIKSGTSLI FKGEGLRMLI 1850
    SRDLDCTNTM YVQFSLRFIA KSTPERSHSI LLQFSISGGI TWHLMDEFYF 1900
    PQTTNILFIN VPLPYTAQTN ATRFRLWQPY NNGKKEEIWI VDDFIIDGNN 1950
    VNNPVMLLDT FDFGPREDNW FFYPGGNIGL YCPYSSKGAP EEDSAMVFVS 2000
    NEVGEHSITT RDLNVNENTI IQFEINVGCS TDSSSADPVR LEFSRDFGAT 2050
    WHLLLPLCYH SSSHVSSLCS TEHHPSSTYY AGTMQGWRRE VVHFGKLHLC 2100
    GSVRFRWYQG FYPAGSQPVT WAIDNVYIGP QCEEMCNGQG SCINGTKCIC 2150
    DPGYSGPTCK ISTKNPDFLK DDFEGQLESD RFLLMSGGKP SRKCGILSSG 2200
    NNLFFNEDGL RMLMTRDLDL SHARFVQFFM RLGCGKGVPD PRSQPVLLQY 2250
    SLNGGLSWSL LQEFLFSNSS NVGRYIALEI PLKARSGSTR LRWWQPSENG 2300
    HFYSPWVIDQ ILIGGNISGN TVLEDDFTTL DSRKWLLHPG GTKMPVCGST 2350
    GDALVFIEKA STRYVVSTDV AVNEDSFLQI DFAASCSVTD SCYAIELEYS 2400
    VDLGLSWHPL VRDCLPTNVE CSRYHLQRIL VSDTFNKWTR ITLPLPPYTR 2450
    SQATRFRWHQ PAPFDKQQTW AIDNVYIGDG CIDMCSGHGR CIQGNCVCDE 2500
    QWGGLYCDDP ETSLPTQLKD NFNRAPSSQN WLTVNGGKLS TVCGAVASGM 2550
    ALHFSGGCSR LLVTVDLNLT NAEFIQFYFM YGCLITPNNR NQGVLLEYSV 2600
    NGGITWNLLM EIFYDQYSKP GFVNILLPPD AKEIATRFRW WQPRHDGLDQ 2650
    NDWAIDNVLI SGSADQRTVM LDTFSSAPVP QHERSPADAG PVGRIAFDMF 2700
    MEDKTSVNEH WLFHDDCTVE RFCDSPDGVM LCGSHDGREV YAVTHDLTPT 2750
    EGWIMQFKIS VGCKVSEKIA QNQIHVQYST DFGVSWNYLV PQCLPADPKC 2800
    SGSVSQPSVF FPTKGWKRIT YPLPESLVGN PVRFRFYQKY SDMQWAIDNF 2850
    YLGPGCLDNC RGHGDCLREQ CICDPGYSGP NCYLTHTLKT FLKERFDSEE 2900
    IKPDLWMSLE GGSTCTECGI LAEDTALYFG GSTVRQAVTQ DLDLRGAKFL 2950
    QYWGRIGSEN NMTSCHRPIC RKEGVLLDYS TDGGITWTLL HEMDYQKYIS 3000
    VRHDYILLPE DALTNTTRLR WWQPFVISNG IVVSGVERAQ WALDNILIGG 3050
    AEINPSQLVD TFDDEGTSHE ENWSFYPNAV RTAGFCGNPS FHLYWPNKKK 3100
    DKTHNALSSR ELIIQPGYMM QFKIVVGCEA TSCGDLHSVM LEYTKDARSD 3150
    SWQLVQTQCL PSSSNSIGCS PFQFHEATIY NSVNSSSWKR ITIQLPDHVS 3200
    SSATQFRWIQ KGEETEKQSW AIDHVYIGEA CPKLCSGHGY CTTGAICICD 3250
    ESFQGDDCSV FSHDLPSYIK DNFESARVTE ANWETIQGGV IGSGCGQLAP 3300
    YAHGDSLYFN GCQIRQAATK PLDLTRASKI MFVLQIGSMS QTDSCNSDLS 3350
    GPHAVDKAVL LQYSVNNGIT WHVIAQHQPK DFTQAQRVSY NVPLEARMKG 3400
    VLLRWWQPRH NGTGHDQWAL DHVEVVLVST RKQNYMMNFS RQHGLRHFYN 3450
    RRRRSLRRYP 3460
    Length:3,460
    Mass (Da):388,388
    Last modified:May 18, 2010 - v3
    Checksum:i9A398EC17FA4EE1B
    GO
    Isoform 2 (identifier: P78509-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         3428-3429: Missing.

    Show »
    Length:3,458
    Mass (Da):388,201
    Checksum:iA67B9EAF1DAE6F69
    GO
    Isoform 3 (identifier: P78509-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         3428-3460: Missing.

    Show »
    Length:3,427
    Mass (Da):384,093
    Checksum:iE9DF2AE0AC29DB8C
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti752 – 7521D → E in AAC51105. (PubMed:9049633)Curated

    Polymorphismi

    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.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti978 – 9781T → A.
    Corresponds to variant rs3025962 [ dbSNP | Ensembl ].
    VAR_047977
    Natural varianti997 – 9971L → V.
    Corresponds to variant rs362691 [ dbSNP | Ensembl ].
    VAR_047978
    Natural varianti1703 – 17031P → R.
    Corresponds to variant rs2229860 [ dbSNP | Ensembl ].
    VAR_057712

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei3428 – 346033Missing in isoform 3. CuratedVSP_005576Add
    BLAST
    Alternative sequencei3428 – 34292Missing in isoform 2. CuratedVSP_005575

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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.
    CCDSiCCDS34722.1. [P78509-2]
    CCDS47680.1. [P78509-1]
    RefSeqiNP_005036.2. NM_005045.3. [P78509-1]
    NP_774959.1. NM_173054.2. [P78509-2]
    UniGeneiHs.655654.

    Genome annotation databases

    EnsembliENST00000343529; ENSP00000345694; ENSG00000189056. [P78509-2]
    ENST00000428762; ENSP00000392423; ENSG00000189056. [P78509-1]
    GeneIDi5649.
    KEGGihsa:5649.
    UCSCiuc010liz.3. human. [P78509-2]
    uc022ajq.1. human. [P78509-1]

    Polymorphism databases

    DMDMi296452988.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    Wikipedia

    Reelin entry

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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 .
    CCDSi CCDS34722.1. [P78509-2 ]
    CCDS47680.1. [P78509-1 ]
    RefSeqi NP_005036.2. NM_005045.3. [P78509-1 ]
    NP_774959.1. NM_173054.2. [P78509-2 ]
    UniGenei Hs.655654.

    3D structure databases

    ProteinModelPortali P78509.
    SMRi P78509. Positions 1293-1596, 1955-2661.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 111630. 5 interactions.
    MINTi MINT-155986.
    STRINGi 9606.ENSP00000392423.

    PTM databases

    PhosphoSitei P78509.

    Polymorphism databases

    DMDMi 296452988.

    Proteomic databases

    MaxQBi P78509.
    PaxDbi P78509.
    PRIDEi P78509.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000343529 ; ENSP00000345694 ; ENSG00000189056 . [P78509-2 ]
    ENST00000428762 ; ENSP00000392423 ; ENSG00000189056 . [P78509-1 ]
    GeneIDi 5649.
    KEGGi hsa:5649.
    UCSCi uc010liz.3. human. [P78509-2 ]
    uc022ajq.1. human. [P78509-1 ]

    Organism-specific databases

    CTDi 5649.
    GeneCardsi GC07M103112.
    H-InvDB HIX0033998.
    HIX0201200.
    HGNCi HGNC:9957. RELN.
    HPAi CAB004556.
    MIMi 257320. phenotype.
    600514. gene.
    neXtProti NX_P78509.
    Orphaneti 89844. Lissencephaly syndrome, Norman-Roberts type.
    PharmGKBi PA34323.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG45680.
    HOVERGENi HBG023117.
    InParanoidi P78509.
    KOi K06249.
    OMAi NWFFYPG.
    OrthoDBi EOG7P2XR4.
    PhylomeDBi P78509.
    TreeFami TF106479.

    Miscellaneous databases

    GeneWikii Reelin.
    GenomeRNAii 5649.
    NextBioi 21946.
    PROi P78509.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P78509.
    Bgeei P78509.
    CleanExi HS_RELN.
    Genevestigatori P78509.

    Family and domain databases

    Gene3Di 2.120.10.10. 2 hits.
    InterProi IPR000742. EG-like_dom.
    IPR013032. EGF-like_CS.
    IPR002861. Reeler_dom.
    IPR011040. Sialidases.
    [Graphical view ]
    Pfami PF12661. hEGF. 2 hits.
    PF02014. Reeler. 1 hit.
    [Graphical view ]
    SMARTi SM00181. EGF. 5 hits.
    [Graphical view ]
    SUPFAMi SSF50939. SSF50939. 17 hits.
    PROSITEi PS00022. EGF_1. 7 hits.
    PS01186. EGF_2. 6 hits.
    PS50026. EGF_3. 5 hits.
    PS51019. REELIN. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "The human reelin gene: isolation, sequencing, and mapping on chromosome 7."
      DeSilva U., D'Arcangelo G., Braden V.V., Chen J., Miao G.G., Curran T., Green E.D.
      Genome Res. 7:157-164(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    2. "The DNA sequence of human chromosome 7."
      Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L.
      , Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K.
      Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. "Human chromosome 7: DNA sequence and biology."
      Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K., Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R., Zhang J., Hudek A.K., Li M., Haddad M., Duggan G.E., Fernandez B.A., Kanematsu E., Gentles S.
      , Christopoulos C.C., Choufani S., Kwasnicka D., Zheng X.H., Lai Z., Nusskern D.R., Zhang Q., Gu Z., Lu F., Zeesman S., Nowaczyk M.J., Teshima I., Chitayat D., Shuman C., Weksberg R., Zackai E.H., Grebe T.A., Cox S.R., Kirkpatrick S.J., Rahman N., Friedman J.M., Heng H.H.Q., Pelicci P.G., Lo-Coco F., Belloni E., Shaffer L.G., Pober B., Morton C.C., Gusella J.F., Bruns G.A.P., Korf B.R., Quade B.J., Ligon A.H., Ferguson H., Higgins A.W., Leach N.T., Herrick S.R., Lemyre E., Farra C.G., Kim H.-G., Summers A.M., Gripp K.W., Roberts W., Szatmari P., Winsor E.J.T., Grzeschik K.-H., Teebi A., Minassian B.A., Kere J., Armengol L., Pujana M.A., Estivill X., Wilson M.D., Koop B.F., Tosi S., Moore G.E., Boright A.P., Zlotorynski E., Kerem B., Kroisel P.M., Petek E., Oscier D.G., Mould S.J., Doehner H., Doehner K., Rommens J.M., Vincent J.B., Venter J.C., Li P.W., Mural R.J., Adams M.D., Tsui L.-C.
      Science 300:767-772(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "Evolutionarily conserved, alternative splicing of reelin during brain development."
      Lambert de Rouvroit C., Bernier B., Royaux I., de Bergeyck V., Goffinet A.M.
      Exp. Neurol. 156:229-238(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: ALTERNATIVE SPLICING.
    5. Cited for: TISSUE SPECIFICITY.
    6. "Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations."
      Hong S.E., Shugart Y.Y., Huang D.T., Shahwan S.A., Grant P.E., Hourihane J.O.B., Martin N.D.T., Walsh C.A.
      Nat. Genet. 26:93-96(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN LIS2.
    7. Cited for: POLYMORPHISM.
    8. "Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry."
      Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H.
      J. Proteome Res. 8:651-661(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-305; ASN-1920 AND ASN-3015.
      Tissue: Liver.

    Entry informationi

    Entry nameiRELN_HUMAN
    AccessioniPrimary (citable) accession number: P78509
    Secondary accession number(s): A4D0P9
    , A4D0Q0, Q86UJ0, Q86UJ8, Q8NDV0, Q9UDQ2
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: March 27, 2002
    Last sequence update: May 18, 2010
    Last modified: October 1, 2014
    This is version 142 of the entry and version 3 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny 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.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 7
      Human chromosome 7: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3