Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Reelin

Gene

RELN

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

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)DescriptionActionsGraphical viewLength
Metal bindingi2060Zinc 1By similarity1
Metal bindingi2073Zinc 1By similarity1
Metal bindingi2178Zinc 1By similarity1
Metal bindingi2263Zinc 1By similarity1
Metal bindingi2396Zinc 2By similarity1
Metal bindingi2398Zinc 2By similarity1
Metal bindingi2459Zinc 2By similarity1

GO - Molecular functioni

  • lipoprotein particle receptor binding Source: BHF-UCL
  • metal ion binding Source: UniProtKB-KW
  • protein serine/threonine/tyrosine kinase activity Source: UniProtKB
  • serine-type peptidase activity Source: UniProtKB-KW
  • very-low-density lipoprotein particle receptor binding Source: BHF-UCL

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Developmental protein, Hydrolase, Protease, Serine protease

Keywords - Biological processi

Cell adhesion

Keywords - Ligandi

Calcium, Metal-binding, Zinc

Enzyme and pathway databases

ReactomeiR-HSA-8866376. Reelin signalling pathway.
SIGNORiP78509.

Names & Taxonomyi

Protein namesi
Recommended name:
Reelin (EC:3.4.21.-)
Gene namesi
Name:RELN
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

HGNCiHGNC:9957. RELN.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Extracellular matrix, Secreted

Pathology & Biotechi

Involvement in diseasei

Lissencephaly 2 (LIS2)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA classic type lissencephaly associated with ataxia, mental retardation, seizures and abnormalities of the cerebellum, hippocampus and brainstem.
See also OMIM:257320
Epilepsy, familial temporal lobe, 7 (ETL7)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA focal form of epilepsy characterized by recurrent seizures that arise from foci within the temporal lobe. Seizures are usually accompanied by sensory symptoms, most often auditory in nature.
See also OMIM:616436
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_073862672P → L in ETL7. 1 PublicationCorresponds to variant rs201044262dbSNPEnsembl.1
Natural variantiVAR_073863723Y → C in ETL7. 1 PublicationCorresponds to variant rs768119894dbSNPEnsembl.1
Natural variantiVAR_073864763D → G in ETL7. 1 PublicationCorresponds to variant rs794727998dbSNPEnsembl.1
Natural variantiVAR_073865798H → N in ETL7. 1 PublicationCorresponds to variant rs794727996dbSNPEnsembl.1
Natural variantiVAR_073866844P → L in ETL7. 1 Publication1
Natural variantiVAR_0738672783G → C in ETL7. 1 PublicationCorresponds to variant rs794727997dbSNPEnsembl.1
Natural variantiVAR_0738683176E → K in ETL7. 1 PublicationCorresponds to variant rs794727999dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation, Epilepsy, Lissencephaly

Organism-specific databases

DisGeNETi5649.
MalaCardsiRELN.
MIMi257320. phenotype.
616436. phenotype.
OpenTargetsiENSG00000189056.
Orphaneti89844. Lissencephaly syndrome, Norman-Roberts type.
PharmGKBiPA34323.

Polymorphism and mutation databases

BioMutaiRELN.
DMDMi296452988.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 25Sequence analysisAdd BLAST25
ChainiPRO_000003030426 – 3460ReelinAdd BLAST3435

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi40 ↔ 126PROSITE-ProRule annotation
Glycosylationi140N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi154 ↔ 178PROSITE-ProRule annotation
Glycosylationi257N-linked (GlcNAc...)Sequence analysis1
Glycosylationi289N-linked (GlcNAc...)Sequence analysis1
Glycosylationi305N-linked (GlcNAc...)1 Publication1
Disulfide bondi539 ↔ 580PROSITE-ProRule annotation
Disulfide bondi608 ↔ 613PROSITE-ProRule annotation
Glycosylationi628N-linked (GlcNAc...)Sequence analysis1
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
Glycosylationi1266N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi1270 ↔ 1309PROSITE-ProRule annotation
Disulfide bondi1338 ↔ 1347PROSITE-ProRule annotation
Glycosylationi1599N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi1632 ↔ 1672PROSITE-ProRule annotation
Disulfide bondi1701 ↔ 1708PROSITE-ProRule annotation
Glycosylationi1749N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1920N-linked (GlcNAc...)1 Publication1
Disulfide bondi2100InterchainPROSITE-ProRule annotation
Disulfide bondi2132 ↔ 2142PROSITE-ProRule annotation
Disulfide bondi2136 ↔ 2148PROSITE-ProRule annotation
Glycosylationi2144N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi2150 ↔ 2159PROSITE-ProRule annotation
Disulfide bondi2194 ↔ 2234PROSITE-ProRule annotation
Glycosylationi2268N-linked (GlcNAc...)Sequence analysis1
Glycosylationi2316N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi2347 ↔ 2386PROSITE-ProRule annotation
Disulfide bondi2392 ↔ 2558PROSITE-ProRule annotation
Disulfide bondi2543 ↔ 2583PROSITE-ProRule annotation
Glycosylationi2568N-linked (GlcNAc...)Sequence analysis1
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
Glycosylationi2961N-linked (GlcNAc...)Sequence analysis1
Glycosylationi3015N-linked (GlcNAc...)1 Publication1
Glycosylationi3072N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi3159 ↔ 3169PROSITE-ProRule annotation
Glycosylationi3184N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi3231 ↔ 3241PROSITE-ProRule annotation
Disulfide bondi3235 ↔ 3247PROSITE-ProRule annotation
Disulfide bondi3249 ↔ 3258PROSITE-ProRule annotation
Disulfide bondi3295 ↔ 3345PROSITE-ProRule annotation
Glycosylationi3411N-linked (GlcNAc...)Sequence analysis1
Glycosylationi3438N-linked (GlcNAc...)Sequence analysis1

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

MaxQBiP78509.
PaxDbiP78509.
PeptideAtlasiP78509.
PRIDEiP78509.

PTM databases

iPTMnetiP78509.
PhosphoSitePlusiP78509.

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

BgeeiENSG00000189056.
CleanExiHS_RELN.
ExpressionAtlasiP78509. baseline and differential.
GenevisibleiP78509. HS.

Organism-specific databases

HPAiHPA046512.

Interactioni

Subunit structurei

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

GO - Molecular functioni

  • lipoprotein particle receptor binding Source: BHF-UCL
  • very-low-density lipoprotein particle receptor binding Source: BHF-UCL

Protein-protein interaction databases

BioGridi111630. 6 interactors.
MINTiMINT-155986.
STRINGi9606.ENSP00000392423.

Structurei

3D structure databases

ProteinModelPortaliP78509.
SMRiP78509.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini26 – 190ReelinPROSITE-ProRule annotationAdd BLAST165
Repeati592 – 603BNR 1Add BLAST12
Domaini670 – 701EGF-like 1PROSITE-ProRule annotationAdd BLAST32
Repeati798 – 809BNR 2Add BLAST12
Repeati951 – 962BNR 3Add BLAST12
Domaini1029 – 1060EGF-like 2PROSITE-ProRule annotationAdd BLAST32
Repeati1156 – 1167BNR 4Add BLAST12
Repeati1322 – 1333BNR 5Add BLAST12
Domaini1408 – 1441EGF-like 3PROSITE-ProRule annotationAdd BLAST34
Repeati1534 – 1545BNR 6Add BLAST12
Repeati1685 – 1696BNR 7Add BLAST12
Domaini1764 – 1795EGF-like 4PROSITE-ProRule annotationAdd BLAST32
Repeati1883 – 1894BNR 8Add BLAST12
Repeati2042 – 2053BNR 9Add BLAST12
Domaini2128 – 2160EGF-like 5PROSITE-ProRule annotationAdd BLAST33
Repeati2249 – 2260BNR 10Add BLAST12
Repeati2398 – 2409BNR 11Add BLAST12
Domaini2477 – 2508EGF-like 6PROSITE-ProRule annotationAdd BLAST32
Repeati2597 – 2608BNR 12Add BLAST12
Repeati2777 – 2788BNR 13Add BLAST12
Domaini2852 – 2883EGF-like 7PROSITE-ProRule annotationAdd BLAST32
Repeati2978 – 2989BNR 14Add BLAST12
Repeati3142 – 3154BNR 15Add BLAST13
Domaini3227 – 3259EGF-like 8PROSITE-ProRule annotationAdd BLAST33
Repeati3362 – 3373BNR 16Add BLAST12

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi3431 – 3460Arg-rich (basic)Add BLAST30

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

eggNOGiENOG410IEXI. Eukaryota.
ENOG410XQKB. LUCA.
GeneTreeiENSGT00580000081623.
HOVERGENiHBG023117.
InParanoidiP78509.
KOiK06249.
OMAiNWFFYPG.
PhylomeDBiP78509.
TreeFamiTF106479.

Family and domain databases

CDDicd08544. Reeler. 1 hit.
Gene3Di2.120.10.10. 2 hits.
InterProiIPR013032. EGF-like_CS.
IPR000742. EGF-like_dom.
IPR002861. Reeler_dom.
IPR011040. Sialidases.
[Graphical view]
PfamiPF02014. Reeler. 1 hit.
[Graphical view]
SMARTiSM00181. EGF. 8 hits.
[Graphical view]
SUPFAMiSSF50939. SSF50939. 15 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. AlignAdd to basket

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

        10         20         30         40         50
MERSGWARQT FLLALLLGAT LRARAAAGYY PRFSPFFFLC THHGELEGDG
60 70 80 90 100
EQGEVLISLH IAGNPTYYVP GQEYHVTIST STFFDGLLVT GLYTSTSVQA
110 120 130 140 150
SQSIGGSSAF GFGIMSDHQF GNQFMCSVVA SHVSHLPTTN LSFIWIAPPA
160 170 180 190 200
GTGCVNFMAT ATHRGQVIFK DALAQQLCEQ GAPTDVTVHP HLAEIHSDSI
210 220 230 240 250
ILRDDFDSYH QLQLNPNIWV ECNNCETGEQ CGAIMHGNAV TFCEPYGPRE
260 270 280 290 300
LITTGLNTTT ASVLQFSIGS GSCRFSYSDP SIIVLYAKNN SADWIQLEKI
310 320 330 340 350
RAPSNVSTII HILYLPEDAK GENVQFQWKQ ENLRVGEVYE ACWALDNILI
360 370 380 390 400
INSAHRQVVL EDSLDPVDTG NWLFFPGATV KHSCQSDGNS IYFHGNEGSE
410 420 430 440 450
FNFATTRDVD LSTEDIQEQW SEEFESQPTG WDVLGAVIGT ECGTIESGLS
460 470 480 490 500
MVFLKDGERK LCTPSMDTTG YGNLRFYFVM GGICDPGNSH ENDIILYAKI
510 520 530 540 550
EGRKEHITLD TLSYSSYKVP SLVSVVINPE LQTPATKFCL RQKNHQGHNR
560 570 580 590 600
NVWAVDFFHV LPVLPSTMSH MIQFSINLGC GTHQPGNSVS LEFSTNHGRS
610 620 630 640 650
WSLLHTECLP EICAGPHLPH STVYSSENYS GWNRITIPLP NAALTRNTRI
660 670 680 690 700
RWRQTGPILG NMWAIDNVYI GPSCLKFCSG RGQCTRHGCK CDPGFSGPAC
710 720 730 740 750
EMASQTFPMF ISESFGSSRL SSYHNFYSIR GAEVSFGCGV LASGKALVFN
760 770 780 790 800
KDGRRQLITS FLDSSQSRFL QFTLRLGSKS VLSTCRAPDQ PGEGVLLHYS
810 820 830 840 850
YDNGITWKLL EHYSYLSYHE PRIISVELPG DAKQFGIQFR WWQPYHSSQR
860 870 880 890 900
EDVWAIDEII MTSVLFNSIS LDFTNLVEVT QSLGFYLGNV QPYCGHDWTL
910 920 930 940 950
CFTGDSKLAS SMRYVETQSM QIGASYMIQF SLVMGCGQKY TPHMDNQVKL
960 970 980 990 1000
EYSTNHGLTW HLVQEECLPS MPSCQEFTSA SIYHASEFTQ WRRVIVLLPQ
1010 1020 1030 1040 1050
KTWSSATRFR WSQSYYTAQD EWALDSIYIG QQCPNMCSGH GSCDHGICRC
1060 1070 1080 1090 1100
DQGYQGTECH PEAALPSTIM SDFENQNGWE SDWQEVIGGE IVKPEQGCGV
1110 1120 1130 1140 1150
ISSGSSLYFS KAGKRQLVSW DLDTSWVDFV QFYIQIGGES ASCNKPDSRE
1160 1170 1180 1190 1200
EGVLLQYSNN GGIQWHLLAE MYFSDFSKPR FVYLELPAAA KTPCTRFRWW
1210 1220 1230 1240 1250
QPVFSGEDYD QWAVDDIIIL SEKQKQIIPV INPTLPQNFY EKPAFDYPMN
1260 1270 1280 1290 1300
QMSVWLMLAN EGMVKNETFC AATPSAMIFG KSDGDRFAVT RDLTLKPGYV
1310 1320 1330 1340 1350
LQFKLNIGCA NQFSSTAPVL LQYSHDAGMS WFLVKEGCYP ASAGKGCEGN
1360 1370 1380 1390 1400
SRELSEPTMY HTGDFEEWTR ITIVIPRSLA SSKTRFRWIQ ESSSQKNVPP
1410 1420 1430 1440 1450
FGLDGVYISE PCPSYCSGHG DCISGVCFCD LGYTAAQGTC VSNVPNHNEM
1460 1470 1480 1490 1500
FDRFEGKLSP LWYKITGAQV GTGCGTLNDG KSLYFNGPGK REARTVPLDT
1510 1520 1530 1540 1550
RNIRLVQFYI QIGSKTSGIT CIKPRTRNEG LIVQYSNDNG ILWHLLRELD
1560 1570 1580 1590 1600
FMSFLEPQII SIDLPQDAKT PATAFRWWQP QHGKHSAQWA LDDVLIGMND
1610 1620 1630 1640 1650
SSQTGFQDKF DGSIDLQANW YRIQGGQVDI DCLSMDTALI FTENIGKPRY
1660 1670 1680 1690 1700
AETWDFHVSA STFLQFEMSM GCSKPFSNSH SVQLQYSLNN GKDWHLVTEE
1710 1720 1730 1740 1750
CVPPTIGCLH YTESSIYTSE RFQNWKRITV YLPLSTISPR TRFRWIQANY
1760 1770 1780 1790 1800
TVGADSWAID NVVLASGCPW MCSGRGICDA GRCVCDRGFG GPYCVPVVPL
1810 1820 1830 1840 1850
PSILKDDFNG NLHPDLWPEV YGAERGNLNG ETIKSGTSLI FKGEGLRMLI
1860 1870 1880 1890 1900
SRDLDCTNTM YVQFSLRFIA KSTPERSHSI LLQFSISGGI TWHLMDEFYF
1910 1920 1930 1940 1950
PQTTNILFIN VPLPYTAQTN ATRFRLWQPY NNGKKEEIWI VDDFIIDGNN
1960 1970 1980 1990 2000
VNNPVMLLDT FDFGPREDNW FFYPGGNIGL YCPYSSKGAP EEDSAMVFVS
2010 2020 2030 2040 2050
NEVGEHSITT RDLNVNENTI IQFEINVGCS TDSSSADPVR LEFSRDFGAT
2060 2070 2080 2090 2100
WHLLLPLCYH SSSHVSSLCS TEHHPSSTYY AGTMQGWRRE VVHFGKLHLC
2110 2120 2130 2140 2150
GSVRFRWYQG FYPAGSQPVT WAIDNVYIGP QCEEMCNGQG SCINGTKCIC
2160 2170 2180 2190 2200
DPGYSGPTCK ISTKNPDFLK DDFEGQLESD RFLLMSGGKP SRKCGILSSG
2210 2220 2230 2240 2250
NNLFFNEDGL RMLMTRDLDL SHARFVQFFM RLGCGKGVPD PRSQPVLLQY
2260 2270 2280 2290 2300
SLNGGLSWSL LQEFLFSNSS NVGRYIALEI PLKARSGSTR LRWWQPSENG
2310 2320 2330 2340 2350
HFYSPWVIDQ ILIGGNISGN TVLEDDFTTL DSRKWLLHPG GTKMPVCGST
2360 2370 2380 2390 2400
GDALVFIEKA STRYVVSTDV AVNEDSFLQI DFAASCSVTD SCYAIELEYS
2410 2420 2430 2440 2450
VDLGLSWHPL VRDCLPTNVE CSRYHLQRIL VSDTFNKWTR ITLPLPPYTR
2460 2470 2480 2490 2500
SQATRFRWHQ PAPFDKQQTW AIDNVYIGDG CIDMCSGHGR CIQGNCVCDE
2510 2520 2530 2540 2550
QWGGLYCDDP ETSLPTQLKD NFNRAPSSQN WLTVNGGKLS TVCGAVASGM
2560 2570 2580 2590 2600
ALHFSGGCSR LLVTVDLNLT NAEFIQFYFM YGCLITPNNR NQGVLLEYSV
2610 2620 2630 2640 2650
NGGITWNLLM EIFYDQYSKP GFVNILLPPD AKEIATRFRW WQPRHDGLDQ
2660 2670 2680 2690 2700
NDWAIDNVLI SGSADQRTVM LDTFSSAPVP QHERSPADAG PVGRIAFDMF
2710 2720 2730 2740 2750
MEDKTSVNEH WLFHDDCTVE RFCDSPDGVM LCGSHDGREV YAVTHDLTPT
2760 2770 2780 2790 2800
EGWIMQFKIS VGCKVSEKIA QNQIHVQYST DFGVSWNYLV PQCLPADPKC
2810 2820 2830 2840 2850
SGSVSQPSVF FPTKGWKRIT YPLPESLVGN PVRFRFYQKY SDMQWAIDNF
2860 2870 2880 2890 2900
YLGPGCLDNC RGHGDCLREQ CICDPGYSGP NCYLTHTLKT FLKERFDSEE
2910 2920 2930 2940 2950
IKPDLWMSLE GGSTCTECGI LAEDTALYFG GSTVRQAVTQ DLDLRGAKFL
2960 2970 2980 2990 3000
QYWGRIGSEN NMTSCHRPIC RKEGVLLDYS TDGGITWTLL HEMDYQKYIS
3010 3020 3030 3040 3050
VRHDYILLPE DALTNTTRLR WWQPFVISNG IVVSGVERAQ WALDNILIGG
3060 3070 3080 3090 3100
AEINPSQLVD TFDDEGTSHE ENWSFYPNAV RTAGFCGNPS FHLYWPNKKK
3110 3120 3130 3140 3150
DKTHNALSSR ELIIQPGYMM QFKIVVGCEA TSCGDLHSVM LEYTKDARSD
3160 3170 3180 3190 3200
SWQLVQTQCL PSSSNSIGCS PFQFHEATIY NSVNSSSWKR ITIQLPDHVS
3210 3220 3230 3240 3250
SSATQFRWIQ KGEETEKQSW AIDHVYIGEA CPKLCSGHGY CTTGAICICD
3260 3270 3280 3290 3300
ESFQGDDCSV FSHDLPSYIK DNFESARVTE ANWETIQGGV IGSGCGQLAP
3310 3320 3330 3340 3350
YAHGDSLYFN GCQIRQAATK PLDLTRASKI MFVLQIGSMS QTDSCNSDLS
3360 3370 3380 3390 3400
GPHAVDKAVL LQYSVNNGIT WHVIAQHQPK DFTQAQRVSY NVPLEARMKG
3410 3420 3430 3440 3450
VLLRWWQPRH NGTGHDQWAL DHVEVVLVST RKQNYMMNFS RQHGLRHFYN
3460
RRRRSLRRYP
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)DescriptionActionsGraphical viewLength
Sequence conflicti752D → E in AAC51105 (PubMed:9049633).Curated1

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.1 Publication

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_073862672P → L in ETL7. 1 PublicationCorresponds to variant rs201044262dbSNPEnsembl.1
Natural variantiVAR_073863723Y → C in ETL7. 1 PublicationCorresponds to variant rs768119894dbSNPEnsembl.1
Natural variantiVAR_073864763D → G in ETL7. 1 PublicationCorresponds to variant rs794727998dbSNPEnsembl.1
Natural variantiVAR_073865798H → N in ETL7. 1 PublicationCorresponds to variant rs794727996dbSNPEnsembl.1
Natural variantiVAR_073866844P → L in ETL7. 1 Publication1
Natural variantiVAR_047977978T → A.Corresponds to variant rs3025962dbSNPEnsembl.1
Natural variantiVAR_047978997L → V.Corresponds to variant rs362691dbSNPEnsembl.1
Natural variantiVAR_0577121703P → R.Corresponds to variant rs2229860dbSNPEnsembl.1
Natural variantiVAR_0738672783G → C in ETL7. 1 PublicationCorresponds to variant rs794727997dbSNPEnsembl.1
Natural variantiVAR_0738683176E → K in ETL7. 1 PublicationCorresponds to variant rs794727999dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0055763428 – 3460Missing in isoform 3. CuratedAdd BLAST33
Alternative sequenceiVSP_0055753428 – 3429Missing in isoform 2. Curated2

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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. [P78509-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

Wikipedia

Reelin entry

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.

3D structure databases

ProteinModelPortaliP78509.
SMRiP78509.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi111630. 6 interactors.
MINTiMINT-155986.
STRINGi9606.ENSP00000392423.

PTM databases

iPTMnetiP78509.
PhosphoSitePlusiP78509.

Polymorphism and mutation databases

BioMutaiRELN.
DMDMi296452988.

Proteomic databases

MaxQBiP78509.
PaxDbiP78509.
PeptideAtlasiP78509.
PRIDEiP78509.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi5649.
DisGeNETi5649.
GeneCardsiRELN.
H-InvDBHIX0033998.
HIX0201200.
HGNCiHGNC:9957. RELN.
HPAiHPA046512.
MalaCardsiRELN.
MIMi257320. phenotype.
600514. gene.
616436. phenotype.
neXtProtiNX_P78509.
OpenTargetsiENSG00000189056.
Orphaneti89844. Lissencephaly syndrome, Norman-Roberts type.
PharmGKBiPA34323.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IEXI. Eukaryota.
ENOG410XQKB. LUCA.
GeneTreeiENSGT00580000081623.
HOVERGENiHBG023117.
InParanoidiP78509.
KOiK06249.
OMAiNWFFYPG.
PhylomeDBiP78509.
TreeFamiTF106479.

Enzyme and pathway databases

ReactomeiR-HSA-8866376. Reelin signalling pathway.
SIGNORiP78509.

Miscellaneous databases

GeneWikiiReelin.
GenomeRNAii5649.
PROiP78509.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000189056.
CleanExiHS_RELN.
ExpressionAtlasiP78509. baseline and differential.
GenevisibleiP78509. HS.

Family and domain databases

CDDicd08544. Reeler. 1 hit.
Gene3Di2.120.10.10. 2 hits.
InterProiIPR013032. EGF-like_CS.
IPR000742. EGF-like_dom.
IPR002861. Reeler_dom.
IPR011040. Sialidases.
[Graphical view]
PfamiPF02014. Reeler. 1 hit.
[Graphical view]
SMARTiSM00181. EGF. 8 hits.
[Graphical view]
SUPFAMiSSF50939. SSF50939. 15 hits.
PROSITEiPS00022. EGF_1. 7 hits.
PS01186. EGF_2. 6 hits.
PS50026. EGF_3. 5 hits.
PS51019. REELIN. 1 hit.
[Graphical view]
ProtoNetiSearch...

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: November 30, 2016
This is version 161 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.