SORL1 (sortilin related receptor 1)

1. Identity

Alias_names
General Information
chromosome 11 open reading frame 32
sortilin-related receptor, L(DLR class) A repeats-containing
Alias_symbol (synonym)gp250
LR11
LRP9
SorLA
SorLA-1
Other aliasSORLA
HGNC (Hugo) SORL1
LocusID (NCBI) 6653
Atlas_Id 53119
Location 11q24.1  [Link to chromosome band 11q24]
Location_base_pair Starts at 121452203 and ends at 121633762 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
COX6B1 (19q13.12) / SORL1 (11q24.1)MXD1 (2p13.3) / SORL1 (11q24.1)SORL1 (11q24.1) / DDX6 (11q23.3)
SORL1 (11q24.1) / PCCA (13q32.3)SORL1 (11q24.1) / SC5D (11q23.3)SORL1 (11q24.1) / SORL1 (11q24.1)
SORL1 (11q24.1) / SYTL2 (11q14.1)SORL1 (11q24.1) / TBCEL (11q23.3)SORL1 (11q24.1) / TECTA (11q23.3)
STEAP3 (2q14.2) / SORL1 (11q24.1)SORL1 11q24.1 / DDX6 11q23.3SORL1 11q24.1 SC5DL
SORL1 11q24.1 / SYTL2 11q14.1SORL1 11q24.1 / TBCEL 11q23.3SORL1 11q24.1 / TECTA 11q23.3

2. DNA/RNA

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 5 ]
  t(11;11)(q14;q24) SORL1/SYTL2
t(11;11)(q23;q24) SORL1/DDX6
t(11;11)(q23;q24) SORL1/SC5D
t(11;11)(q23;q24) SORL1/TBCEL
t(11;11)(q23;q24) SORL1/TECTA


3. External links

Nomenclature
HGNC (Hugo)SORL1   11185
Cards
Entrez_Gene (NCBI)SORL1  6653  sortilin related receptor 1
AliasesC11orf32; LR11; LRP9; SORLA; 
SorLA-1; gp250
GeneCards (Weizmann)SORL1
Ensembl hg19 (Hinxton)ENSG00000137642 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000137642 [Gene_View] &nbspENSG00000137642 [Sequence]  chr11:121452203-121633762 [Contig_View]  SORL1 [Vega]
ICGC DataPortalENSG00000137642
TCGA cBioPortalSORL1
AceView (NCBI)SORL1
Genatlas (Paris)SORL1
WikiGenes6653
SOURCE (Princeton)SORL1
Genetics Home Reference (NIH)SORL1
Genomic and cartography
GoldenPath hg38 (UCSC)SORL1  -     chr11:121452203-121633762 +  11q24.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SORL1  -     11q24.1   [Description]    (hg19-Feb_2009)
EnsemblSORL1 - 11q24.1 [CytoView hg19]  SORL1 - 11q24.1 [CytoView hg38]
Mapping of homologs : NCBISORL1 [Mapview hg19]  SORL1 [Mapview hg38]
OMIM602005   
Gene and transcription
Genbank (Entrez)AI358248 AK025583 AK096577 AK294404 AK295090
RefSeq transcript (Entrez)NM_003105
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SORL1
Cluster EST : UnigeneHs.368592 [ NCBI ]
CGAP (NCI)Hs.368592
Alternative Splicing GalleryENSG00000137642
Gene ExpressionSORL1 [ NCBI-GEO ]   SORL1 [ EBI - ARRAY_EXPRESS ]   SORL1 [ SEEK ]   SORL1 [ MEM ]
Gene Expression Viewer (FireBrowse)SORL1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets] &nbsp [Normal Tissue Atlas] &nbsp[carcinoma Classsification] &nbsp[NCI60]
GenevestigatorExpression in : [tissues] &nbsp[cell-lines] &nbsp[cancer] &nbsp[perturbations] &nbsp
BioGPS (Tissue expression)6653
GTEX Portal (Tissue expression)SORL1
Human Protein AtlasENSG00000137642-SORL1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ92673   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ92673  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ92673
Splice isoforms : SwissVarQ92673
PhosPhoSitePlusQ92673
Domaine pattern : Prosite (Expaxy)EGF_2 (PS01186)    FN3 (PS50853)    LDLRA_1 (PS01209)    LDLRA_2 (PS50068)    LDLRB (PS51120)   
Domains : Interpro (EBI)6-blade_b-propeller_TolB-like    FN3_dom    FN3_sf    Ig-like_fold    LDL_receptor-like_sf    LDLR_class-A_CS    LDLR_classB_rpt    LDrepeatLR_classA_rpt    Sortilin_C    Sortilin_N    VPS10    WD40/YVTN_repeat-like_dom_sf   
Domain families : Pfam (Sanger)fn3 (PF00041)    Ldl_recept_a (PF00057)    Ldl_recept_b (PF00058)    Sortilin-Vps10 (PF15902)    Sortilin_C (PF15901)   
Domain families : Pfam (NCBI)pfam00041    pfam00057    pfam00058    pfam15902    pfam15901   
Domain families : Smart (EMBL)FN3 (SM00060)  LDLa (SM00192)  LY (SM00135)  VPS10 (SM00602)  
Conserved Domain (NCBI)SORL1
DMDM Disease mutations6653
Blocks (Seattle)SORL1
PDB (RSDB)2DM4    3G2S    3G2T    3WSX    3WSY    3WSZ   
PDB Europe2DM4    3G2S    3G2T    3WSX    3WSY    3WSZ   
PDB (PDBSum)2DM4    3G2S    3G2T    3WSX    3WSY    3WSZ   
PDB (IMB)2DM4    3G2S    3G2T    3WSX    3WSY    3WSZ   
Structural Biology KnowledgeBase2DM4    3G2S    3G2T    3WSX    3WSY    3WSZ   
SCOP (Structural Classification of Proteins)2DM4    3G2S    3G2T    3WSX    3WSY    3WSZ   
CATH (Classification of proteins structures)2DM4    3G2S    3G2T    3WSX    3WSY    3WSZ   
SuperfamilyQ92673
Human Protein Atlas [tissue]ENSG00000137642-SORL1 [tissue]
Peptide AtlasQ92673
HPRD03595
IPIIPI00022608   IPI00981818   IPI00979542   IPI00978927   IPI00978278   IPI00982452   
Protein Interaction databases
DIP (DOE-UCLA)Q92673
IntAct (EBI)Q92673
FunCoupENSG00000137642
BioGRIDSORL1
STRING (EMBL)SORL1
ZODIACSORL1
Ontologies - Pathways
QuickGOQ92673
Ontology : AmiGOGolgi membrane  amyloid-beta binding  amyloid-beta binding  transmembrane signaling receptor activity  low-density lipoprotein particle receptor activity  protein binding  extracellular space  nuclear envelope lumen  endosome  early endosome  early endosome  endoplasmic reticulum  Golgi apparatus  trans-Golgi network  integral component of plasma membrane  protein targeting  protein targeting  protein targeting to lysosome  lipid transport  post-Golgi vesicle-mediated transport  receptor-mediated endocytosis  cholesterol metabolic process  endosome membrane  regulation of smooth muscle cell migration  membrane  low-density lipoprotein particle binding  ADP-ribosylation factor binding  Golgi cisterna  negative regulation of protein binding  negative regulation of protein oligomerization  protein localization to Golgi apparatus  low-density lipoprotein particle  negative regulation of MAP kinase activity  cellular protein metabolic process  protein retention in Golgi apparatus  positive regulation of protein catabolic process  negative regulation of neurogenesis  protein maturation  recycling endosome  extracellular exosome  positive regulation of protein exit from endoplasmic reticulum  negative regulation of neuron death  negative regulation of amyloid-beta formation  negative regulation of amyloid-beta formation  positive regulation of choline O-acetyltransferase activity  negative regulation of tau-protein kinase activity  positive regulation of ER to Golgi vesicle-mediated transport  positive regulation of early endosome to recycling endosome transport  negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process  negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process  negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process  positive regulation of protein localization to early endosome  negative regulation of neurofibrillary tangle assembly  positive regulation of endocytic recycling  
Ontology : EGO-EBIGolgi membrane  amyloid-beta binding  amyloid-beta binding  transmembrane signaling receptor activity  low-density lipoprotein particle receptor activity  protein binding  extracellular space  nuclear envelope lumen  endosome  early endosome  early endosome  endoplasmic reticulum  Golgi apparatus  trans-Golgi network  integral component of plasma membrane  protein targeting  protein targeting  protein targeting to lysosome  lipid transport  post-Golgi vesicle-mediated transport  receptor-mediated endocytosis  cholesterol metabolic process  endosome membrane  regulation of smooth muscle cell migration  membrane  low-density lipoprotein particle binding  ADP-ribosylation factor binding  Golgi cisterna  negative regulation of protein binding  negative regulation of protein oligomerization  protein localization to Golgi apparatus  low-density lipoprotein particle  negative regulation of MAP kinase activity  cellular protein metabolic process  protein retention in Golgi apparatus  positive regulation of protein catabolic process  negative regulation of neurogenesis  protein maturation  recycling endosome  extracellular exosome  positive regulation of protein exit from endoplasmic reticulum  negative regulation of neuron death  negative regulation of amyloid-beta formation  negative regulation of amyloid-beta formation  positive regulation of choline O-acetyltransferase activity  negative regulation of tau-protein kinase activity  positive regulation of ER to Golgi vesicle-mediated transport  positive regulation of early endosome to recycling endosome transport  negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process  negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process  negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process  positive regulation of protein localization to early endosome  negative regulation of neurofibrillary tangle assembly  positive regulation of endocytic recycling  
NDEx NetworkSORL1
Atlas of Cancer Signalling NetworkSORL1
Wikipedia pathwaysSORL1
Orthology - Evolution
OrthoDB6653
GeneTree (enSembl)ENSG00000137642
Phylogenetic Trees/Animal Genes : TreeFamSORL1
HOGENOMQ92673
Homologs : HomoloGeneSORL1
Homology/Alignments : Family Browser (UCSC)SORL1
Gene fusions - Rearrangements
Fusion : MitelmanSORL1/DDX6 [11q24.1/11q23.3] &nbsp
Fusion : MitelmanSORL1/SC5D [11q24.1/11q23.3] &nbsp[t(11;11)(q23;q24)]  
Fusion : MitelmanSORL1/SYTL2 [11q24.1/11q14.1] &nbsp[t(11;11)(q14;q24)]  
Fusion : MitelmanSORL1/TBCEL [11q24.1/11q23.3] &nbsp[t(11;11)(q23;q24)]  
Fusion : MitelmanSORL1/TECTA [11q24.1/11q23.3] &nbsp[t(11;11)(q23;q24)]  
Fusion PortalSORL1 11q24.1 DDX6 11q23.3 BRCA
Fusion PortalSORL1 11q24.1 SC5DL OV
Fusion PortalSORL1 11q24.1 SYTL2 11q14.1 LUAD
Fusion PortalSORL1 11q24.1 TBCEL 11q23.3 OV
Fusion PortalSORL1 11q24.1 TECTA 11q23.3 BRCA OV
Fusion : QuiverSORL1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSORL1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SORL1
dbVarSORL1
ClinVarSORL1
1000_GenomesSORL1 
Exome Variant ServerSORL1
ExAC (Exome Aggregation Consortium)ENSG00000137642
GNOMAD BrowserENSG00000137642
Varsome BrowserSORL1
Genetic variants : HAPMAP6653
Genomic Variants (DGV)SORL1 [DGVbeta]
DECIPHERSORL1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSORL1 
Mutations
ICGC Data PortalSORL1 
TCGA Data PortalSORL1 
Broad Tumor PortalSORL1
OASIS PortalSORL1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSORL1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSORL1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch SORL1
DgiDB (Drug Gene Interaction Database)SORL1
DoCM (Curated mutations)SORL1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SORL1 (select a term)
intoGenSORL1
Cancer3DSORL1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM602005   
Orphanet631   
DisGeNETSORL1
MedgenSORL1
Genetic Testing Registry SORL1
NextProtQ92673 [Medical]
TSGene6653
GENETestsSORL1
Target ValidationSORL1
Huge Navigator SORL1 [HugePedia]
snp3D : Map Gene to Disease6653
BioCentury BCIQSORL1
ClinGenSORL1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6653
Chemical/Pharm GKB GenePA36022
Clinical trialSORL1
Miscellaneous
canSAR (ICR)SORL1 (select the gene name)
DataMed IndexSORL1
Probes
Litterature
PubMed174 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSORL1
EVEXSORL1
GoPubMedSORL1
iHOPSORL1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Jan 17 18:39:37 CET 2019

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