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P78509

- RELN_HUMAN

UniProt

P78509 - RELN_HUMAN

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Protein
Reelin
Gene
RELN
Organism
Homo sapiens (Human)
Status
Reviewed - 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.

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Metal bindingi2060 – 20601Zinc 1 By similarity
Metal bindingi2073 – 20731Zinc 1 By similarity
Metal bindingi2178 – 21781Zinc 1 By similarity
Metal bindingi2263 – 22631Zinc 1 By similarity
Metal bindingi2396 – 23961Zinc 2 By similarity
Metal bindingi2398 – 23981Zinc 2 By similarity
Metal bindingi2459 – 24591Zinc 2 By 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. N-methyl-D-aspartate receptor clustering Source: Ensembl
  2. associative learning Source: Ensembl
  3. axon guidance Source: UniProtKB
  4. brain development Source: UniProtKB
  5. cell adhesion Source: UniProtKB-KW
  6. cell morphogenesis involved in differentiation Source: UniProtKB
  7. central nervous system development Source: UniProtKB
  8. cerebral cortex tangential migration Source: UniProtKB
  9. dendrite development Source: Ensembl
  10. glial cell differentiation Source: UniProtKB
  11. hippocampus development Source: BHF-UCL
  12. lateral motor column neuron migration Source: Ensembl
  13. long-term memory Source: Ensembl
  14. neuron migration Source: UniProtKB
  15. peptidyl-tyrosine phosphorylation Source: UniProtKB
  16. positive regulation of CREB transcription factor activity Source: BHF-UCL
  17. positive regulation of TOR signaling Source: Ensembl
  18. positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity Source: BHF-UCL
  19. positive regulation of dendritic spine morphogenesis Source: BHF-UCL
  20. positive regulation of excitatory postsynaptic membrane potential Source: BHF-UCL
  21. positive regulation of lateral motor column neuron migration Source: Ensembl
  22. positive regulation of long-term synaptic potentiation Source: BHF-UCL
  23. positive regulation of neuron projection development Source: BHF-UCL
  24. positive regulation of peptidyl-tyrosine phosphorylation Source: BHF-UCL
  25. positive regulation of phosphatidylinositol 3-kinase signaling Source: Ensembl
  26. positive regulation of protein kinase activity Source: UniProtKB
  27. positive regulation of protein tyrosine kinase activity Source: BHF-UCL
  28. positive regulation of small GTPase mediated signal transduction Source: UniProtKB
  29. positive regulation of synapse maturation Source: BHF-UCL
  30. positive regulation of synaptic transmission, glutamatergic Source: BHF-UCL
  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 N-methyl-D-aspartate selective glutamate receptor activity Source: BHF-UCL
  35. regulation of behavior 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
Complete GO annotation...

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
Complete GO annotation...

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication

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 – 2525 Reviewed prediction
Add
BLAST
Chaini26 – 34603435Reelin
PRO_0000030304Add
BLAST

Amino acid modifications

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

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.

Protein-protein interaction databases

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

Structurei

3D structure databases

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

Family & Domainsi

Domains and Repeats

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

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

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.
VSP_005576Add
BLAST
Alternative sequencei3428 – 34292Missing in isoform 2.
VSP_005575

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti752 – 7521D → E in AAC51105. 1 Publication

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

« Hide 'large scale' publications
  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: July 9, 2014
This is version 141 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

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