Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6653
Gene name Gene Name - the full gene name approved by the HGNC.
Sortilin related receptor 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SORL1
Synonyms (NCBI Gene) Gene synonyms aliases
C11orf32, LR11, LRP9, SORLA, SorLA-1, gp250
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q24.1
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a mosaic protein that belongs to at least two families: the vacuolar protein sorting 10 (VPS10) domain-containing receptor family, and the low density lipoprotein receptor (LDLR) family. The encoded protein also contains fibronectin type
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT439562 hsa-miR-127-5p HITS-CLIP 24374217
MIRT439562 hsa-miR-127-5p HITS-CLIP 24374217
MIRT1379664 hsa-miR-100 CLIP-seq
MIRT1379665 hsa-miR-101 CLIP-seq
MIRT1379666 hsa-miR-1179 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane TAS
GO:0001540 Function Amyloid-beta binding IDA 24523320
GO:0001540 Function Amyloid-beta binding IPI 16407538
GO:0002024 Process Diet induced thermogenesis ISS
GO:0004888 Function Transmembrane signaling receptor activity IDA 11294867
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
602005 11185 ENSG00000137642
Protein
UniProt ID Q92673
Protein name Sortilin-related receptor (Low-density lipoprotein receptor relative with 11 ligand-binding repeats) (LDLR relative with 11 ligand-binding repeats) (LR11) (SorLA-1) (Sorting protein-related receptor containing LDLR class A repeats) (SorLA)
Protein function Sorting receptor that directs several proteins to their correct location within the cell (Probable). Along with AP-1 complex, involved Golgi apparatus - endosome sorting (PubMed:17646382). Sorting receptor for APP, regulating its intracellular t
PDB 2DM4 , 3G2S , 3G2T , 3WSX , 3WSY , 3WSZ , 7VT0
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15902 Sortilin-Vps10 133 586 Sortilin, neurotensin receptor 3, Domain
PF15901 Sortilin_C 588 752 Sortilin, neurotensin receptor 3, C-terminal Domain
PF00058 Ldl_recept_b 844 884 Low-density lipoprotein receptor repeat class B Repeat
PF00058 Ldl_recept_b 888 929 Low-density lipoprotein receptor repeat class B Repeat
PF00057 Ldl_recept_a 1076 1112 Low-density lipoprotein receptor domain class A Repeat
PF00057 Ldl_recept_a 1115 1153 Low-density lipoprotein receptor domain class A Repeat
PF00057 Ldl_recept_a 1156 1192 Low-density lipoprotein receptor domain class A Repeat
PF00057 Ldl_recept_a 1197 1235 Low-density lipoprotein receptor domain class A Repeat
PF00057 Ldl_recept_a 1233 1271 Low-density lipoprotein receptor domain class A Repeat
PF00057 Ldl_recept_a 1323 1359 Low-density lipoprotein receptor domain class A Repeat
PF00057 Ldl_recept_a 1366 1403 Low-density lipoprotein receptor domain class A Repeat
PF00057 Ldl_recept_a 1417 1453 Low-density lipoprotein receptor domain class A Repeat
PF00057 Ldl_recept_a 1469 1506 Low-density lipoprotein receptor domain class A Repeat
PF00057 Ldl_recept_a 1512 1549 Low-density lipoprotein receptor domain class A Repeat
PF00041 fn3 1556 1633 Fibronectin type III domain Domain
PF00041 fn3 1652 1735 Fibronectin type III domain Domain
PF00041 fn3 1933 2014 Fibronectin type III domain Domain
Tissue specificity TISSUE SPECIFICITY: Highly expressed in brain (at protein level) (PubMed:16174740, PubMed:21147781, PubMed:9157966). Most abundant in the cerebellum, cerebral cortex and occipital pole; low levels in the putamen and thalamus (PubMed:16174740, PubMed:91579
Sequence
MATRSSRRESRLPFLFTLVALLPPGALCEVWTQRLHGGSAPLPQDRGFLVVQGDPRELRL
WARGDARGASRADEKPLRRKRSAALQPEPIKVYGQVSLNDSHNQMVVHWAGEKSNVIVAL
ARDSLALARPKSSDVYVSYDYGKSFKKISDKLNFGLGNRSEAVIAQFYHSPADNKRYIFA
DAYAQYLWITFDFCNTLQGFSIPFRAADLLLHSKASNLLLGFDRSHPNKQLWKSDDFGQT
WIMIQEHVKSFSWGIDPYDKPNTIYIERHEPSGYSTVFRSTDFFQSRENQEVILEEVRDF
QLRDKYMFATKVVHLLGSEQQSSVQLWVSFGRKPMRAAQFVTRHPINEYYIADASEDQVF
VCVSHSNNRTNLYISEAEGLKFSLSLENVLYYSPGGAGSDTLVRYFANEPFADFHRVEGL
QGVYIATLINGSMNEENMRSVITFDKGGTWEFLQAPAFTGYGEKINCELSQGCSLHLAQR
LSQLLNLQLRRMPILSKESAPGLIIATGSVGKNLASKTNVYISSSAGARWREALPGPHYY
TWGDHGGIITAIAQGMETNELKYSTNEGETWKTFIFSEKPVFVYGL
LTEPGEKSTVFTIF
GSNKENVHSWLILQVNATDALGVPCTENDYKLWSPSDERGNECLLGHKTVFKRRTPHATC
FNGEDFDRPVVVSNCSCTREDYECDFGFKMSEDLSLEVCVPDPEFSGKSYSPPVPCPVGS
TYRRTRGYRKISGDTCSGGDVEARLEGELVPC
PLAEENEFILYAVRKSIYRYDLASGATE
QLPLTGLRAAVALDFDYEHNCLYWSDLALDVIQRLCLNGSTGQEVIINSGLETVEALAFE
PLSQLLYWVDAGFKKIEVANPDGDFRLTIVNSSVLDRPRALVLVPQEGVMFWTDWGDLKP
GIYRSNMDGSAAYHLVSEDVKWPNGISVD
DQWIYWTDAYLECIERITFSGQQRSVILDNL
PHPYAIAVFKNEIYWDDWSQLSIFRASKYSGSQMEILANQLTGLMDMKIFYKGKNTGSNA
CVPRPCSLLCLPKANNSRSCRCPEDVSSSVLPSGDLMCDCPQGYQLKNNTCVKQENTCLR
NQYRCSNGNCINSIWWCDFDNDCGDMSDERNC
PTTICDLDTQFRCQESGTCIPLSYKCDL
EDDCGDNSDESHC
EMHQCRSDEYNCSSGMCIRSSWVCDGDNDCRDWSDEANCTAIYHTCE
ASNFQCRNGHCIPQRWACDGDTDCQDGSDEDP
VNCEKKCNGFRCPNGTCIPSSKHCDGLR
DCSDGSDEQHC
EPLCTHFMDFVCKNRQQCLFHSMVCDGIIQCRDGSDEDAAFAGCSQDPE
FHKVCDEFGFQCQNGVCISLIWKCDGMDDCGDYSDEANCENPTEAPNCSRYFQFRCENGH
CIPNRWKCDRENDCGDWSDEKDC
GDSHILPFSTPGPSTCLPNYYRCSSGTCVMDTWVCDG
YRDCADGSDEEAC
PLLANVTAASTPTQLGRCDRFEFECHQPKTCIPNWKRCDGHQDCQDG
RDEANC
PTHSTLTCMSREFQCEDGEACIVLSERCDGFLDCSDESDEKACSDELTVYKVQN
LQWTADFSGDVTLTWMRPKKMPSASCVYNVYYRVVGESIWKTLETHSNKTNTVLKVLKPD
TTYQVKVQVQCLS
KAHNTNDFVTLRTPEGLPDAPRNLQLSLPREAEGVIVGHWAPPIHTH
GLIREYIVEYSRSGSKMWASQRAASNFTEIKNLLVNTLYTVRVAAVTSRGIGNWS
DSKSI
TTIKGKVIPPPDIHIDSYGENYLSFTLTMESDIKVNGYVVNLFWAFDTHKQERRTLNFRG
SILSHKVGNLTAHTSYEISAWAKTDLGDSPLAFEHVMTRGVRPPAPSLKAKAINQTAVEC
TWTGPRNVVYGIFYATSFLDLYRNPKSLTTSLHNKTVIVSKDEQYLFLVRVVVPYQGPSS
DYVVVKMIPDSRLPPRHLHVVHTGKTSVVIKWESPYDSPDQDLLYAVAVKDLIRKTDRSY
KVKSRNSTVEYTLNKLEPGGKYHIIVQLGNMSKD
SSIKITTVSLSAPDALKIITENDHVL
LFWKSLALKEKHFNESRGYEIHMFDSAMNITAYLGNTTDNFFKISNLKMGHNYTFTVQAR
CLFGNQICGEPAILLYDELGSGADASATQAARSTDVAAVVVPILFLILLSLGVGFAILYT
KHRRLQSSFTAFANSHYSSRLGSAIFSSGDDLGEDDEDAPMITGFSDDVPMVIA
Sequence length 2214
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Amyloid fiber formation
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Alzheimer disease Familial Alzheimer Disease (FAD), Alzheimer`s Disease, Early-onset autosomal dominant Alzheimer disease, NON RARE IN EUROPE: Alzheimer disease rs63750215, rs28936379, rs63749851, rs63749884, rs28936380, rs63750048, rs63750579, rs63750264, rs63749964, rs63750671, rs281865161, rs63750066, rs63750399, rs63750734, rs63751039
View all (65 more)
22472873, 24523320, 29777097, 31473137, 23565137, 21220680, 30617256, 24162737
Atrial fibrillation Atrial Fibrillation rs120074192, rs121908590, rs121908593, rs121434558, rs587776851, rs387906612, rs387906613, rs387906614, rs387906615, rs199472687, rs199472705, rs199473324, rs587777336, rs587777339, rs587777557
View all (6 more)
30061737
Breast cancer Malignant neoplasm of breast rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158
View all (309 more)
Cholestasis Cholestasis rs121909103, rs751511532, rs376368459, rs762702807, rs1578490102, rs1578499691, rs1578504946, rs1317656688, rs199791850, rs1452792080, rs1578491039 26881866
Unknown
Disease term Disease name Evidence References Source
Paroxysmal atrial fibrillation Paroxysmal atrial fibrillation 30061737 ClinVar
Atrial Fibrillation Atrial Fibrillation GWAS
Rheumatic Heart Disease Rheumatic Heart Disease GWAS
Dementia Dementia GWAS
Associations from Text Mining
Disease Name Relationship Type References
AA amyloidosis Associate 21997402, 24166411
alpha 1 Antitrypsin Deficiency Associate 33720088
Alzheimer Disease Associate 17220890, 17420311, 17826910, 17903297, 17949987, 17975299, 18090307, 18562096, 18830724, 18938222, 19064752, 20634593, 21185108, 21280075, 21997402
View all (75 more)
Alzheimer Disease Inhibit 17721864, 19364929, 22927900
Amyotrophic Lateral Sclerosis Associate 31405128
Aphasia Primary Progressive Associate 33737586
Arthritis Rheumatoid Associate 40081680
Atrophy Associate 19064752, 27177090
Bipolar Disorder Associate 25897833
Cerebral Amyloid Angiopathy Associate 31092209, 35457051