Gene Gene information from NCBI Gene database.
Entrez ID 6653
Gene name Sortilin related receptor 1
Gene symbol SORL1
Synonyms (NCBI Gene)
C11orf32LR11LRP9SORLASorLA-1gp250
Chromosome 11
Chromosome location 11q24.1
Summary 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.
476
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
108
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IEA
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 IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602005 11185 ENSG00000137642
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
43
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Complex hereditary spastic paraplegia Pathogenic rs2496816791 RCV004574945
Moyamoya angiopathy Likely pathogenic rs770704659 RCV004704481
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Alzheimer disease 9 risk factor rs2134858145 RCV001810083
Early-onset dementia of unclear type Conflicting classifications of pathogenicity rs377550239 RCV001090110
Familial cancer of breast Uncertain significance rs373077929 RCV005925449
Glioma susceptibility 1 Likely benign rs746423950 RCV005936619
Associations from Text MiningDisease associations identified through Pubtator
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