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Q92673

- SORL_HUMAN

UniProt

Q92673 - SORL_HUMAN

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Protein
Sortilin-related receptor
Gene
SORL1, C11orf32
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Likely to be a multifunctional endocytic receptor, that may be implicated in the uptake of lipoproteins and of proteases. Binds LDL, the major cholesterol-carrying lipoprotein of plasma, and transports it into cells by endocytosis. Binds the receptor-associated protein (RAP). Could play a role in cell-cell interaction. Involved in APP trafficking to and from the Golgi apparatus. It probably acts as a sorting receptor that protects APP from trafficking to late endosome and from processing into amyloid beta, thereby reducing the burden of amyloidogenic peptide formation. Involved in the regulation of smooth muscle cells migration, probably through PLAUR binding and decreased internalization.2 Publications

GO - Molecular functioni

  1. ADP-ribosylation factor binding Source: Alzheimers_University_of_Toronto
  2. beta-amyloid binding Source: Alzheimers_University_of_Toronto
  3. low-density lipoprotein particle binding Source: BHF-UCL
  4. protein binding Source: UniProtKB
  5. transmembrane signaling receptor activity Source: ProtInc

GO - Biological processi

  1. cell death Source: UniProtKB-KW
  2. cell migration Source: Ensembl
  3. cell proliferation Source: Ensembl
  4. cholesterol metabolic process Source: UniProtKB-KW
  5. lipid transport Source: UniProtKB-KW
  6. negative regulation of MAP kinase activity Source: Alzheimers_University_of_Toronto
  7. negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process Source: Alzheimers_University_of_Toronto
  8. negative regulation of beta-amyloid formation Source: Alzheimers_University_of_Toronto
  9. negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process Source: Alzheimers_University_of_Toronto
  10. negative regulation of neurofibrillary tangle assembly Source: Alzheimers_University_of_Toronto
  11. negative regulation of neurogenesis Source: Alzheimers_University_of_Toronto
  12. negative regulation of neuron death Source: Alzheimers_University_of_Toronto
  13. negative regulation of protein binding Source: Alzheimers_University_of_Toronto
  14. negative regulation of protein oligomerization Source: Alzheimers_University_of_Toronto
  15. negative regulation of tau-protein kinase activity Source: Alzheimers_University_of_Toronto
  16. positive regulation of ER to Golgi vesicle-mediated transport Source: Alzheimers_University_of_Toronto
  17. positive regulation of choline O-acetyltransferase activity Source: Alzheimers_University_of_Toronto
  18. positive regulation of early endosome to recycling endosome transport Source: Alzheimers_University_of_Toronto
  19. positive regulation of endocytic recycling Source: Alzheimers_University_of_Toronto
  20. positive regulation of protein catabolic process Source: Alzheimers_University_of_Toronto
  21. positive regulation of protein exit from endoplasmic reticulum Source: Alzheimers_University_of_Toronto
  22. positive regulation of protein localization to early endosome Source: Alzheimers_University_of_Toronto
  23. post-Golgi vesicle-mediated transport Source: Alzheimers_University_of_Toronto
  24. protein maturation Source: Alzheimers_University_of_Toronto
  25. protein retention in Golgi apparatus Source: Alzheimers_University_of_Toronto
  26. protein targeting Source: UniProtKB
  27. protein targeting to Golgi Source: Alzheimers_University_of_Toronto
  28. protein targeting to lysosome Source: Alzheimers_University_of_Toronto
  29. receptor-mediated endocytosis Source: ProtInc
  30. regulation of smooth muscle cell migration Source: UniProtKB
  31. signal transduction Source: GOC
Complete GO annotation...

Keywords - Molecular functioni

Receptor

Keywords - Biological processi

Cholesterol metabolism, Endocytosis, Lipid metabolism, Lipid transport, Steroid metabolism, Sterol metabolism, Transport

Names & Taxonomyi

Protein namesi
Recommended name:
Sortilin-related receptor
Alternative name(s):
Low-density lipoprotein receptor relative with 11 ligand-binding repeats
Short name:
LDLR relative with 11 ligand-binding repeats
Short name:
LR11
SorLA-1
Sorting protein-related receptor containing LDLR class A repeats
Short name:
SorLA
Gene namesi
Name:SORL1
Synonyms:C11orf32
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 11

Organism-specific databases

HGNCiHGNC:11185. SORL1.

Subcellular locationi

Membrane; Single-pass type I membrane protein Reviewed prediction. Golgi apparatus. Endosome. Secreted 2 Publications

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini82 – 21372056Extracellular Reviewed prediction
Add
BLAST
Transmembranei2138 – 215821Helical; Reviewed prediction
Add
BLAST
Topological domaini2159 – 221456Cytoplasmic Reviewed prediction
Add
BLAST

GO - Cellular componenti

  1. Golgi apparatus Source: UniProtKB
  2. Golgi cisterna Source: Alzheimers_University_of_Toronto
  3. early endosome Source: Alzheimers_University_of_Toronto
  4. endoplasmic reticulum Source: Alzheimers_University_of_Toronto
  5. endosome Source: UniProtKB
  6. extracellular space Source: UniProtKB
  7. extracellular vesicular exosome Source: UniProt
  8. integral component of plasma membrane Source: ProtInc
  9. low-density lipoprotein particle Source: UniProtKB-KW
  10. membrane Source: UniProtKB
  11. multivesicular body Source: Ensembl
  12. neuronal cell body Source: Ensembl
  13. nuclear envelope lumen Source: Alzheimers_University_of_Toronto
  14. recycling endosome Source: Alzheimers_University_of_Toronto
  15. trans-Golgi network Source: Alzheimers_University_of_Toronto
Complete GO annotation...

Keywords - Cellular componenti

Endosome, Golgi apparatus, LDL, Membrane, Secreted

Pathology & Biotechi

Involvement in diseasei

Alzheimer disease (AD) [MIM:104300]: Alzheimer disease is a neurodegenerative disorder characterized by progressive dementia, loss of cognitive abilities, and deposition of fibrillar amyloid proteins as intraneuronal neurofibrillary tangles, extracellular amyloid plaques and vascular amyloid deposits. The major constituent of these plaques is the neurotoxic amyloid-beta-APP 40-42 peptide (s), derived proteolytically from the transmembrane precursor protein APP by sequential secretase processing. The cytotoxic C-terminal fragments (CTFs) and the caspase-cleaved products such as C31 derived from APP, are also implicated in neuronal death.
Note: The gene represented in this entry is involved in disease pathogenesis.5 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti141 – 1411Y → C in AD; unknown pathological significance. 1 Publication
VAR_070012
Natural varianti511 – 5111G → R in AD; unknown pathological significance. 1 Publication
VAR_070013
Natural varianti924 – 9241N → S in AD; unknown pathological significance. 1 Publication
Corresponds to variant rs377498269 [ dbSNP | Ensembl ].
VAR_070014
Natural varianti1358 – 13581N → S in AD; unknown pathological significance. 1 Publication
VAR_070015
Natural varianti1681 – 16811G → D in AD; unknown pathological significance. 1 Publication
VAR_070016

Keywords - Diseasei

Alzheimer disease, Amyloidosis, Disease mutation, Neurodegeneration

Organism-specific databases

MIMi104300. phenotype.
Orphaneti1020. Early-onset autosomal dominant Alzheimer disease.
PharmGKBiPA36022.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2828 Reviewed prediction
Add
BLAST
Propeptidei29 – 8153Removed in mature form
PRO_0000033164Add
BLAST
Chaini82 – 22142133Sortilin-related receptor
PRO_0000033165Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi99 – 991N-linked (GlcNAc...)1 Publication
Modified residuei114 – 1141Phosphoserine1 Publication
Glycosylationi158 – 1581N-linked (GlcNAc...) Reviewed prediction
Glycosylationi368 – 3681N-linked (GlcNAc...) Reviewed prediction
Glycosylationi430 – 4301N-linked (GlcNAc...) Reviewed prediction
Glycosylationi616 – 6161N-linked (GlcNAc...) Reviewed prediction
Glycosylationi674 – 6741N-linked (GlcNAc...) Reviewed prediction
Glycosylationi818 – 8181N-linked (GlcNAc...) Reviewed prediction
Glycosylationi871 – 8711N-linked (GlcNAc...) Reviewed prediction
Glycosylationi1035 – 10351N-linked (GlcNAc...) Reviewed prediction
Glycosylationi1068 – 10681N-linked (GlcNAc...) Reviewed prediction
Disulfide bondi1078 ↔ 1090 By similarity
Disulfide bondi1085 ↔ 1103 By similarity
Disulfide bondi1097 ↔ 1112 By similarity
Disulfide bondi1117 ↔ 1131 By similarity
Disulfide bondi1125 ↔ 1144 By similarity
Disulfide bondi1138 ↔ 1153 By similarity
Disulfide bondi1158 ↔ 1170 By similarity
Glycosylationi1164 – 11641N-linked (GlcNAc...) Reviewed prediction
Disulfide bondi1165 ↔ 1183 By similarity
Disulfide bondi1177 ↔ 1192 By similarity
Glycosylationi1191 – 11911N-linked (GlcNAc...) Reviewed prediction
Disulfide bondi1199 ↔ 1211 By similarity
Disulfide bondi1206 ↔ 1224 By similarity
Disulfide bondi1218 ↔ 1235 By similarity
Disulfide bondi1239 ↔ 1249 By similarity
Disulfide bondi1244 ↔ 1262 By similarity
Glycosylationi1246 – 12461N-linked (GlcNAc...) Reviewed prediction
Disulfide bondi1256 ↔ 1271 By similarity
Disulfide bondi1275 ↔ 1289 By similarity
Disulfide bondi1283 ↔ 1302 By similarity
Disulfide bondi1296 ↔ 1315 By similarity
Disulfide bondi1325 ↔ 1337 By similarity
Disulfide bondi1332 ↔ 1350 By similarity
Disulfide bondi1344 ↔ 1359 By similarity
Glycosylationi1367 – 13671N-linked (GlcNAc...) Reviewed prediction
Disulfide bondi1368 ↔ 1381 By similarity
Disulfide bondi1376 ↔ 1394 By similarity
Disulfide bondi1388 ↔ 1403 By similarity
Disulfide bondi1419 ↔ 1431 By similarity
Disulfide bondi1426 ↔ 1444 By similarity
Disulfide bondi1438 ↔ 1453 By similarity
Glycosylationi1458 – 14581N-linked (GlcNAc...) Reviewed prediction
Disulfide bondi1471 ↔ 1484 By similarity
Disulfide bondi1478 ↔ 1497 By similarity
Disulfide bondi1491 ↔ 1506 By similarity
Disulfide bondi1514 ↔ 1527 By similarity
Disulfide bondi1521 ↔ 1540 By similarity
Disulfide bondi1534 ↔ 1549 By similarity
Glycosylationi1608 – 16081N-linked (GlcNAc...) Reviewed prediction
Glycosylationi1706 – 17061N-linked (GlcNAc...) Reviewed prediction
Glycosylationi1733 – 17331N-linked (GlcNAc...)1 Publication
Glycosylationi1809 – 18091N-linked (GlcNAc...) Reviewed prediction
Glycosylationi1854 – 18541N-linked (GlcNAc...) Reviewed prediction
Glycosylationi1894 – 18941N-linked (GlcNAc...) Reviewed prediction
Glycosylationi1986 – 19861N-linked (GlcNAc...) Reviewed prediction
Glycosylationi2010 – 20101N-linked (GlcNAc...)1 Publication
Glycosylationi2054 – 20541N-linked (GlcNAc...) Reviewed prediction
Glycosylationi2069 – 20691N-linked (GlcNAc...) Reviewed prediction
Glycosylationi2076 – 20761N-linked (GlcNAc...)1 Publication
Glycosylationi2092 – 20921N-linked (GlcNAc...)1 Publication
Modified residuei2206 – 22061Phosphoserine; by ROCK21 Publication

Post-translational modificationi

The propeptide removed in the N-terminus may be cleaved by furin or homologous proteases.

Keywords - PTMi

Cleavage on pair of basic residues, Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

MaxQBiQ92673.
PaxDbiQ92673.
PRIDEiQ92673.

PTM databases

PhosphoSiteiQ92673.

Expressioni

Tissue specificityi

Expressed mainly in brain, where it is most abundant in the cerebellum, cerebral cortex and the occipital pole; low expression in the putamen and the thalamus. Expression is significantly reduced in the frontal cortex of patients suffering from Alzheimer disease. According to 1 Publication, found in spinal cord, testis, liver, kidney and pancreas with detectable levels in placenta, lung and heart. According to 1 Publication, expressed in the prostate, ovary, thyroid and spleen, but not found in kidney, liver, lung, skeletal muscle, bone marrow and adrenals.1 Publication

Gene expression databases

ArrayExpressiQ92673.
BgeeiQ92673.
CleanExiHS_SORL1.
GenevestigatoriQ92673.

Organism-specific databases

HPAiCAB011500.
HPA031321.

Interactioni

Subunit structurei

Interacts with GGA1 and ROCK2. Interacts with PLAUR. Interacts with APP.4 Publications

Protein-protein interaction databases

BioGridi112536. 11 interactions.
IntActiQ92673. 10 interactions.
MINTiMINT-231252.
STRINGi9606.ENSP00000260197.

Structurei

Secondary structure

Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi1655 – 16606
Beta strandi1669 – 16746
Beta strandi1683 – 169210
Beta strandi1699 – 171012
Beta strandi1718 – 172912
Beta strandi1731 – 17344
Beta strandi1738 – 17414

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
2DM4NMR-A1651-1745[»]
3G2SX-ray1.70C/D2202-2214[»]
3G2TX-ray2.00C/D2202-2214[»]
ProteinModelPortaliQ92673.
SMRiQ92673. Positions 95-739, 759-1072, 1077-1550, 1559-1635, 1651-1745, 1931-2018.

Miscellaneous databases

EvolutionaryTraceiQ92673.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati136 – 14712BNR 1
Add
BLAST
Repeati232 – 24312BNR 2
Add
BLAST
Repeati441 – 45212BNR 3
Add
BLAST
Repeati521 – 53212BNR 4
Add
BLAST
Repeati562 – 57312BNR 5
Add
BLAST
Repeati800 – 84344LDL-receptor class B 1
Add
BLAST
Repeati844 – 88744LDL-receptor class B 2
Add
BLAST
Repeati888 – 93245LDL-receptor class B 3
Add
BLAST
Repeati933 – 97038LDL-receptor class B 4
Add
BLAST
Repeati971 – 101343LDL-receptor class B 5
Add
BLAST
Domaini1026 – 107247EGF-like
Add
BLAST
Domaini1076 – 111439LDL-receptor class A 1
Add
BLAST
Domaini1115 – 115541LDL-receptor class A 2
Add
BLAST
Domaini1156 – 119439LDL-receptor class A 3
Add
BLAST
Domaini1198 – 123639LDL-receptor class A 4
Add
BLAST
Domaini1238 – 127235LDL-receptor class A 5
Add
BLAST
Domaini1273 – 131745LDL-receptor class A 6
Add
BLAST
Domaini1323 – 136139LDL-receptor class A 7
Add
BLAST
Domaini1366 – 140540LDL-receptor class A 8
Add
BLAST
Domaini1417 – 145539LDL-receptor class A 9
Add
BLAST
Domaini1469 – 150840LDL-receptor class A 10
Add
BLAST
Domaini1512 – 155140LDL-receptor class A 11
Add
BLAST
Domaini1557 – 164993Fibronectin type-III 1
Add
BLAST
Domaini1653 – 174593Fibronectin type-III 2
Add
BLAST
Domaini1749 – 184496Fibronectin type-III 3
Add
BLAST
Domaini1843 – 192785Fibronectin type-III 4
Add
BLAST
Domaini1934 – 202996Fibronectin type-III 5
Add
BLAST
Domaini2030 – 211889Fibronectin type-III 6
Add
BLAST

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi63 – 653Cell attachment site Reviewed prediction
Motifi2172 – 21776Endocytosis signal Reviewed prediction

Sequence similaritiesi

Contains 5 BNR repeats.
Contains 1 EGF-like domain.

Keywords - Domaini

EGF-like domain, Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG281049.
HOGENOMiHOG000007009.
HOVERGENiHBG017830.
InParanoidiQ92673.
OMAiTNVYISS.
OrthoDBiEOG7FV3PK.
PhylomeDBiQ92673.
TreeFamiTF324918.

Family and domain databases

Gene3Di2.120.10.30. 1 hit.
2.60.40.10. 4 hits.
4.10.400.10. 10 hits.
InterProiIPR011042. 6-blade_b-propeller_TolB-like.
IPR000742. EG-like_dom.
IPR003961. Fibronectin_type3.
IPR013783. Ig-like_fold.
IPR023415. LDLR_class-A_CS.
IPR000033. LDLR_classB_rpt.
IPR002172. LDrepeatLR_classA_rpt.
IPR006581. VPS10.
[Graphical view]
PfamiPF00041. fn3. 3 hits.
PF00057. Ldl_recept_a. 10 hits.
PF00058. Ldl_recept_b. 2 hits.
[Graphical view]
PRINTSiPR00261. LDLRECEPTOR.
SMARTiSM00181. EGF. 1 hit.
SM00060. FN3. 6 hits.
SM00192. LDLa. 11 hits.
SM00135. LY. 5 hits.
SM00602. VPS10. 1 hit.
[Graphical view]
SUPFAMiSSF49265. SSF49265. 3 hits.
SSF57424. SSF57424. 11 hits.
PROSITEiPS01186. EGF_2. 1 hit.
PS50853. FN3. 4 hits.
PS01209. LDLRA_1. 10 hits.
PS50068. LDLRA_2. 11 hits.
PS51120. LDLRB. 5 hits.
[Graphical view]

Sequencei

Sequence statusi: Complete.

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

Q92673-1 [UniParc]FASTAAdd to Basket

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MATRSSRRES RLPFLFTLVA LLPPGALCEV WTQRLHGGSA PLPQDRGFLV     50
VQGDPRELRL WARGDARGAS RADEKPLRRK RSAALQPEPI KVYGQVSLND 100
SHNQMVVHWA GEKSNVIVAL ARDSLALARP KSSDVYVSYD YGKSFKKISD 150
KLNFGLGNRS EAVIAQFYHS PADNKRYIFA DAYAQYLWIT FDFCNTLQGF 200
SIPFRAADLL LHSKASNLLL GFDRSHPNKQ LWKSDDFGQT WIMIQEHVKS 250
FSWGIDPYDK PNTIYIERHE PSGYSTVFRS TDFFQSRENQ EVILEEVRDF 300
QLRDKYMFAT KVVHLLGSEQ QSSVQLWVSF GRKPMRAAQF VTRHPINEYY 350
IADASEDQVF VCVSHSNNRT NLYISEAEGL KFSLSLENVL YYSPGGAGSD 400
TLVRYFANEP FADFHRVEGL QGVYIATLIN GSMNEENMRS VITFDKGGTW 450
EFLQAPAFTG YGEKINCELS QGCSLHLAQR LSQLLNLQLR RMPILSKESA 500
PGLIIATGSV GKNLASKTNV YISSSAGARW REALPGPHYY TWGDHGGIIT 550
AIAQGMETNE LKYSTNEGET WKTFIFSEKP VFVYGLLTEP GEKSTVFTIF 600
GSNKENVHSW LILQVNATDA LGVPCTENDY KLWSPSDERG NECLLGHKTV 650
FKRRTPHATC FNGEDFDRPV VVSNCSCTRE DYECDFGFKM SEDLSLEVCV 700
PDPEFSGKSY SPPVPCPVGS TYRRTRGYRK ISGDTCSGGD VEARLEGELV 750
PCPLAEENEF ILYAVRKSIY RYDLASGATE QLPLTGLRAA VALDFDYEHN 800
CLYWSDLALD VIQRLCLNGS TGQEVIINSG LETVEALAFE PLSQLLYWVD 850
AGFKKIEVAN PDGDFRLTIV NSSVLDRPRA LVLVPQEGVM FWTDWGDLKP 900
GIYRSNMDGS AAYHLVSEDV KWPNGISVDD QWIYWTDAYL ECIERITFSG 950
QQRSVILDNL PHPYAIAVFK NEIYWDDWSQ LSIFRASKYS GSQMEILANQ 1000
LTGLMDMKIF YKGKNTGSNA CVPRPCSLLC LPKANNSRSC RCPEDVSSSV 1050
LPSGDLMCDC PQGYQLKNNT CVKQENTCLR NQYRCSNGNC INSIWWCDFD 1100
NDCGDMSDER NCPTTICDLD TQFRCQESGT CIPLSYKCDL EDDCGDNSDE 1150
SHCEMHQCRS DEYNCSSGMC IRSSWVCDGD NDCRDWSDEA NCTAIYHTCE 1200
ASNFQCRNGH CIPQRWACDG DTDCQDGSDE DPVNCEKKCN GFRCPNGTCI 1250
PSSKHCDGLR DCSDGSDEQH CEPLCTHFMD FVCKNRQQCL FHSMVCDGII 1300
QCRDGSDEDA AFAGCSQDPE FHKVCDEFGF QCQNGVCISL IWKCDGMDDC 1350
GDYSDEANCE NPTEAPNCSR YFQFRCENGH CIPNRWKCDR ENDCGDWSDE 1400
KDCGDSHILP FSTPGPSTCL PNYYRCSSGT CVMDTWVCDG YRDCADGSDE 1450
EACPLLANVT AASTPTQLGR CDRFEFECHQ PKTCIPNWKR CDGHQDCQDG 1500
RDEANCPTHS TLTCMSREFQ CEDGEACIVL SERCDGFLDC SDESDEKACS 1550
DELTVYKVQN LQWTADFSGD VTLTWMRPKK MPSASCVYNV YYRVVGESIW 1600
KTLETHSNKT NTVLKVLKPD TTYQVKVQVQ CLSKAHNTND FVTLRTPEGL 1650
PDAPRNLQLS LPREAEGVIV GHWAPPIHTH GLIREYIVEY SRSGSKMWAS 1700
QRAASNFTEI KNLLVNTLYT VRVAAVTSRG IGNWSDSKSI TTIKGKVIPP 1750
PDIHIDSYGE NYLSFTLTME SDIKVNGYVV NLFWAFDTHK QERRTLNFRG 1800
SILSHKVGNL TAHTSYEISA WAKTDLGDSP LAFEHVMTRG VRPPAPSLKA 1850
KAINQTAVEC TWTGPRNVVY GIFYATSFLD LYRNPKSLTT SLHNKTVIVS 1900
KDEQYLFLVR VVVPYQGPSS DYVVVKMIPD SRLPPRHLHV VHTGKTSVVI 1950
KWESPYDSPD QDLLYAVAVK DLIRKTDRSY KVKSRNSTVE YTLNKLEPGG 2000
KYHIIVQLGN MSKDSSIKIT TVSLSAPDAL KIITENDHVL LFWKSLALKE 2050
KHFNESRGYE IHMFDSAMNI TAYLGNTTDN FFKISNLKMG HNYTFTVQAR 2100
CLFGNQICGE PAILLYDELG SGADASATQA ARSTDVAAVV VPILFLILLS 2150
LGVGFAILYT KHRRLQSSFT AFANSHYSSR LGSAIFSSGD DLGEDDEDAP 2200
MITGFSDDVP MVIA 2214
Length:2,214
Mass (Da):248,426
Last modified:May 18, 2010 - v2
Checksum:i4C215BB33E65C0B2
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti120 – 1201L → S in a breast cancer sample; somatic mutation. 1 Publication
VAR_036371
Natural varianti141 – 1411Y → C in AD; unknown pathological significance. 1 Publication
VAR_070012
Natural varianti511 – 5111G → R in AD; unknown pathological significance. 1 Publication
VAR_070013
Natural varianti528 – 5281A → T.1 Publication
Corresponds to variant rs2298813 [ dbSNP | Ensembl ].
VAR_020360
Natural varianti924 – 9241N → S in AD; unknown pathological significance. 1 Publication
Corresponds to variant rs377498269 [ dbSNP | Ensembl ].
VAR_070014
Natural varianti1074 – 10741Q → E.4 Publications
Corresponds to variant rs1699107 [ dbSNP | Ensembl ].
VAR_034508
Natural varianti1358 – 13581N → S in AD; unknown pathological significance. 1 Publication
VAR_070015
Natural varianti1581 – 15811M → L in a breast cancer sample; somatic mutation. 1 Publication
VAR_036372
Natural varianti1681 – 16811G → D in AD; unknown pathological significance. 1 Publication
VAR_070016
Natural varianti1967 – 19671V → I.4 Publications
Corresponds to variant rs1792120 [ dbSNP | Ensembl ].
VAR_034509
Natural varianti1972 – 19721L → V in a colorectal cancer sample; somatic mutation. 1 Publication
VAR_036373

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
Y08110 mRNA. Translation: CAA69325.1.
U60975 mRNA. Translation: AAC50891.2.
AP000664 Genomic DNA. No translation available.
AP000977 Genomic DNA. No translation available.
CH471065 Genomic DNA. Translation: EAW67525.1.
BC137171 mRNA. Translation: AAI37172.1.
CCDSiCCDS8436.1.
RefSeqiNP_003096.1. NM_003105.5.
UniGeneiHs.368592.

Genome annotation databases

EnsembliENST00000260197; ENSP00000260197; ENSG00000137642.
GeneIDi6653.
KEGGihsa:6653.
UCSCiuc001pxx.3. human.

Polymorphism databases

DMDMi296452912.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
Y08110 mRNA. Translation: CAA69325.1 .
U60975 mRNA. Translation: AAC50891.2 .
AP000664 Genomic DNA. No translation available.
AP000977 Genomic DNA. No translation available.
CH471065 Genomic DNA. Translation: EAW67525.1 .
BC137171 mRNA. Translation: AAI37172.1 .
CCDSi CCDS8436.1.
RefSeqi NP_003096.1. NM_003105.5.
UniGenei Hs.368592.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
2DM4 NMR - A 1651-1745 [» ]
3G2S X-ray 1.70 C/D 2202-2214 [» ]
3G2T X-ray 2.00 C/D 2202-2214 [» ]
ProteinModelPortali Q92673.
SMRi Q92673. Positions 95-739, 759-1072, 1077-1550, 1559-1635, 1651-1745, 1931-2018.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 112536. 11 interactions.
IntActi Q92673. 10 interactions.
MINTi MINT-231252.
STRINGi 9606.ENSP00000260197.

PTM databases

PhosphoSitei Q92673.

Polymorphism databases

DMDMi 296452912.

Proteomic databases

MaxQBi Q92673.
PaxDbi Q92673.
PRIDEi Q92673.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000260197 ; ENSP00000260197 ; ENSG00000137642 .
GeneIDi 6653.
KEGGi hsa:6653.
UCSCi uc001pxx.3. human.

Organism-specific databases

CTDi 6653.
GeneCardsi GC11P121356.
HGNCi HGNC:11185. SORL1.
HPAi CAB011500.
HPA031321.
MIMi 104300. phenotype.
602005. gene.
neXtProti NX_Q92673.
Orphaneti 1020. Early-onset autosomal dominant Alzheimer disease.
PharmGKBi PA36022.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG281049.
HOGENOMi HOG000007009.
HOVERGENi HBG017830.
InParanoidi Q92673.
OMAi TNVYISS.
OrthoDBi EOG7FV3PK.
PhylomeDBi Q92673.
TreeFami TF324918.

Miscellaneous databases

ChiTaRSi SORL1. human.
EvolutionaryTracei Q92673.
GenomeRNAii 6653.
NextBioi 25935.
PROi Q92673.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q92673.
Bgeei Q92673.
CleanExi HS_SORL1.
Genevestigatori Q92673.

Family and domain databases

Gene3Di 2.120.10.30. 1 hit.
2.60.40.10. 4 hits.
4.10.400.10. 10 hits.
InterProi IPR011042. 6-blade_b-propeller_TolB-like.
IPR000742. EG-like_dom.
IPR003961. Fibronectin_type3.
IPR013783. Ig-like_fold.
IPR023415. LDLR_class-A_CS.
IPR000033. LDLR_classB_rpt.
IPR002172. LDrepeatLR_classA_rpt.
IPR006581. VPS10.
[Graphical view ]
Pfami PF00041. fn3. 3 hits.
PF00057. Ldl_recept_a. 10 hits.
PF00058. Ldl_recept_b. 2 hits.
[Graphical view ]
PRINTSi PR00261. LDLRECEPTOR.
SMARTi SM00181. EGF. 1 hit.
SM00060. FN3. 6 hits.
SM00192. LDLa. 11 hits.
SM00135. LY. 5 hits.
SM00602. VPS10. 1 hit.
[Graphical view ]
SUPFAMi SSF49265. SSF49265. 3 hits.
SSF57424. SSF57424. 11 hits.
PROSITEi PS01186. EGF_2. 1 hit.
PS50853. FN3. 4 hits.
PS01209. LDLRA_1. 10 hits.
PS50068. LDLRA_2. 11 hits.
PS51120. LDLRB. 5 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "A novel mosaic protein containing LDL receptor elements is highly conserved in humans and chickens."
    Morwald S., Yamazaki H., Bujo H., Kusunoki J., Kanaki T., Seimiya K., Morisaki N., Nimpf J., Schneider W.J., Saito Y.
    Arterioscler. Thromb. Vasc. Biol. 17:996-1002(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS GLU-1074 AND ILE-1967.
    Tissue: Brain.
  2. "Molecular characterization of a novel human hybrid-type receptor that binds the alpha2-macroglobulin receptor-associated protein."
    Jacobsen L., Madsen P., Moestrup S.K., Lund A.H., Tommerup N., Nykjaer A., Sottrup-Jensen L., Gliemann J., Petersen C.M.
    J. Biol. Chem. 271:31379-31383(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], PROTEIN SEQUENCE OF N-TERMINUS, PARTIAL PROTEIN SEQUENCE, VARIANTS GLU-1074 AND ILE-1967.
    Tissue: Brain and T-cell.
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANTS GLU-1074 AND ILE-1967.
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANTS GLU-1074 AND ILE-1967.
    Tissue: Brain.
  6. "LR11, an LDL receptor gene family member, is a novel regulator of smooth muscle cell migration."
    Zhu Y., Bujo H., Yamazaki H., Ohwaki K., Jiang M., Hirayama S., Kanaki T., Shibasaki M., Takahashi K., Schneider W.J., Saito Y.
    Circ. Res. 94:752-758(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, SUBCELLULAR LOCATION, INTERACTION WITH PLAUR.
  7. Cited for: FUNCTION IN APP TRAFFICKING, SUBCELLULAR LOCATION, INTERACTION WITH APP, TISSUE SPECIFICITY.
  8. "No association of SORL1 SNPs with Alzheimer's disease."
    Minster R.L., DeKosky S.T., Kamboh M.I.
    Neurosci. Lett. 440:190-192(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: LACK OF ASSOCIATION WITH SUSCEPTIBILITY TO LATE-ONSET ALZHEIMER DISEASE.
  9. "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-99; ASN-1733; ASN-2010; ASN-2076 AND ASN-2092.
    Tissue: Liver.
  10. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
    Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
    Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-114, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  11. Cited for: INVOLVEMENT IN AD.
  12. "Rho kinase II phosphorylation of the lipoprotein receptor LR11/SORLA alters amyloid-beta production."
    Herskowitz J.H., Seyfried N.T., Gearing M., Kahn R.A., Peng J., Levey A.I., Lah J.J.
    J. Biol. Chem. 286:6117-6127(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION AT SER-2206, INTERACTION WITH ROCK2.
  13. "SORL1 is genetically associated with late-onset Alzheimer's disease in Japanese, Koreans and Caucasians."
    Alzheimer Disease Genetics Consortium
    Miyashita A., Koike A., Jun G., Wang L.S., Takahashi S., Matsubara E., Kawarabayashi T., Shoji M., Tomita N., Arai H., Asada T., Harigaya Y., Ikeda M., Amari M., Hanyu H., Higuchi S., Ikeuchi T., Nishizawa M.
    , Suga M., Kawase Y., Akatsu H., Kosaka K., Yamamoto T., Imagawa M., Hamaguchi T., Yamada M., Moriaha T., Takeda M., Takao T., Nakata K., Fujisawa Y., Sasaki K., Watanabe K., Nakashima K., Urakami K., Ooya T., Takahashi M., Yuzuriha T., Serikawa K., Yoshimoto S., Nakagawa R., Kim J.W., Ki C.S., Won H.H., Na D.L., Seo S.W., Mook-Jung I., St George-Hyslop P., Mayeux R., Haines J.L., Pericak-Vance M.A., Yoshida M., Nishida N., Tokunaga K., Yamamoto K., Tsuji S., Kanazawa I., Ihara Y., Schellenberg G.D., Farrer L.A., Kuwano R.
    PLoS ONE 8:E58618-E58618(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN AD.
  14. "Solution structure of the second FN3 domain of human SORLA/LR11."
    RIKEN structural genomics initiative (RSGI)
    Submitted (OCT-2006) to the PDB data bank
    Cited for: STRUCTURE BY NMR OF 1651-1745.
  15. Cited for: X-RAY CRYSTALLOGRAPHY (1.7 ANGSTROMS) OF 2202-2214 IN COMPLEX WITH GGA1, INTERACTION WITH GGA1.
  16. Cited for: VARIANTS [LARGE SCALE ANALYSIS] SER-120; LEU-1581 AND VAL-1972.
  17. "SORL1 is genetically associated with increased risk for late-onset Alzheimer disease in the Belgian population."
    Bettens K., Brouwers N., Engelborghs S., De Deyn P.P., Van Broeckhoven C., Sleegers K.
    Hum. Mutat. 29:769-770(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: POSSIBLE ASSOCIATION WITH SUSCEPTIBILITY TO LATE-ONSET ALZHEIMER DISEASE, VARIANT THR-528.
  18. Cited for: VARIANTS AD CYS-141; ARG-511; SER-924; SER-1358 AND ASP-1681.

Entry informationi

Entry nameiSORL_HUMAN
AccessioniPrimary (citable) accession number: Q92673
Secondary accession number(s): B2RNX7, Q92856
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: May 18, 2010
Last modified: September 3, 2014
This is version 149 of the entry and version 2 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

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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