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SORT1 (sortilin 1)

Identity

Alias_symbol (synonym)Gp95
NT3
Other aliasLDLCQ6
NTR3
HGNC (Hugo) SORT1
LocusID (NCBI) 6272
Atlas_Id 50638
Location 1p13.3  [Link to chromosome band 1p13]
Location_base_pair Starts at 109309566 and ends at 109393357 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
AFP (4q13.3) / SORT1 (1p13.3)BCL2L1 (20q11.21) / SORT1 (1p13.3)CPNE2 (16q13) / SORT1 (1p13.3)
PAPOLA (14q32.2) / SORT1 (1p13.3)SORT1 (1p13.3) / CSRNP3 (2q24.3)SORT1 (1p13.3) / EEF1D (8q24.3)
SORT1 (1p13.3) / FAF1 (1p32.3)SORT1 (1p13.3) / KLHDC3 (6p21.1)SORT1 (1p13.3) / SCAP (3p21.31)
SORT1 (1p13.3) / SPAG17 (1p12)

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

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)SORT1   11186
Cards
Entrez_Gene (NCBI)SORT1  6272  sortilin 1
AliasesGp95; LDLCQ6; NT3; NTR3
GeneCards (Weizmann)SORT1
Ensembl hg19 (Hinxton)ENSG00000134243 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000134243 [Gene_View]  chr1:109309566-109393357 [Contig_View]  SORT1 [Vega]
ICGC DataPortalENSG00000134243
TCGA cBioPortalSORT1
AceView (NCBI)SORT1
Genatlas (Paris)SORT1
WikiGenes6272
SOURCE (Princeton)SORT1
Genetics Home Reference (NIH)SORT1
Genomic and cartography
GoldenPath hg38 (UCSC)SORT1  -     chr1:109309566-109393357 -  1p13.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SORT1  -     1p13.3   [Description]    (hg19-Feb_2009)
EnsemblSORT1 - 1p13.3 [CytoView hg19]  SORT1 - 1p13.3 [CytoView hg38]
Mapping of homologs : NCBISORT1 [Mapview hg19]  SORT1 [Mapview hg38]
OMIM602458   613589   
Gene and transcription
Genbank (Entrez)AA782785 AI623426 AI695671 AK000757 AK023648
RefSeq transcript (Entrez)NM_001205228 NM_002959
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SORT1
Cluster EST : UnigeneHs.703487 [ NCBI ]
CGAP (NCI)Hs.703487
Alternative Splicing GalleryENSG00000134243
Gene ExpressionSORT1 [ NCBI-GEO ]   SORT1 [ EBI - ARRAY_EXPRESS ]   SORT1 [ SEEK ]   SORT1 [ MEM ]
Gene Expression Viewer (FireBrowse)SORT1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6272
GTEX Portal (Tissue expression)SORT1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ99523   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ99523  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ99523
Splice isoforms : SwissVarQ99523
PhosPhoSitePlusQ99523
Domains : Interpro (EBI)Sortilin_C    Sortilin_N    VPS10    WD40/YVTN_repeat-like_dom   
Domain families : Pfam (Sanger)Sortilin-Vps10 (PF15902)    Sortilin_C (PF15901)   
Domain families : Pfam (NCBI)pfam15902    pfam15901   
Domain families : Smart (EMBL)VPS10 (SM00602)  
Conserved Domain (NCBI)SORT1
DMDM Disease mutations6272
Blocks (Seattle)SORT1
PDB (SRS)3F6K    3G2U    3G2V    4MSL    4N7E    4PO7   
PDB (PDBSum)3F6K    3G2U    3G2V    4MSL    4N7E    4PO7   
PDB (IMB)3F6K    3G2U    3G2V    4MSL    4N7E    4PO7   
PDB (RSDB)3F6K    3G2U    3G2V    4MSL    4N7E    4PO7   
Structural Biology KnowledgeBase3F6K    3G2U    3G2V    4MSL    4N7E    4PO7   
SCOP (Structural Classification of Proteins)3F6K    3G2U    3G2V    4MSL    4N7E    4PO7   
CATH (Classification of proteins structures)3F6K    3G2U    3G2V    4MSL    4N7E    4PO7   
SuperfamilyQ99523
Human Protein AtlasENSG00000134243
Peptide AtlasQ99523
HPRD03910
IPIIPI00217882   IPI01008999   IPI00976848   
Protein Interaction databases
DIP (DOE-UCLA)Q99523
IntAct (EBI)Q99523
FunCoupENSG00000134243
BioGRIDSORT1
STRING (EMBL)SORT1
ZODIACSORT1
Ontologies - Pathways
QuickGOQ99523
Ontology : AmiGOossification  protein binding  lysosome  lysosomal membrane  early endosome  endoplasmic reticulum membrane  Golgi apparatus  cytosol  plasma membrane  plasma membrane  clathrin-coated pit  Golgi to endosome transport  endocytosis  G-protein coupled receptor signaling pathway  neuropeptide signaling pathway  multicellular organism development  endosome to lysosome transport  extrinsic apoptotic signaling pathway via death domain receptors  cell surface  endosome membrane  nerve growth factor receptor activity  regulation of gene expression  myotube differentiation  integral component of membrane  vesicle organization  enzyme binding  clathrin-coated vesicle  trans-Golgi network transport vesicle  neurotensin receptor activity, non-G-protein coupled  dendrite  cytoplasmic vesicle membrane  cytoplasmic vesicle  nuclear membrane  endosome transport via multivesicular body sorting pathway  Golgi cisterna membrane  response to insulin  nerve growth factor signaling pathway  neuronal cell body  negative regulation of fat cell differentiation  glucose import  neurotrophin TRK receptor signaling pathway  plasma membrane to endosome transport  nerve growth factor binding  perinuclear region of cytoplasm  negative regulation of lipoprotein lipase activity  positive regulation of epithelial cell apoptotic process  
Ontology : EGO-EBIossification  protein binding  lysosome  lysosomal membrane  early endosome  endoplasmic reticulum membrane  Golgi apparatus  cytosol  plasma membrane  plasma membrane  clathrin-coated pit  Golgi to endosome transport  endocytosis  G-protein coupled receptor signaling pathway  neuropeptide signaling pathway  multicellular organism development  endosome to lysosome transport  extrinsic apoptotic signaling pathway via death domain receptors  cell surface  endosome membrane  nerve growth factor receptor activity  regulation of gene expression  myotube differentiation  integral component of membrane  vesicle organization  enzyme binding  clathrin-coated vesicle  trans-Golgi network transport vesicle  neurotensin receptor activity, non-G-protein coupled  dendrite  cytoplasmic vesicle membrane  cytoplasmic vesicle  nuclear membrane  endosome transport via multivesicular body sorting pathway  Golgi cisterna membrane  response to insulin  nerve growth factor signaling pathway  neuronal cell body  negative regulation of fat cell differentiation  glucose import  neurotrophin TRK receptor signaling pathway  plasma membrane to endosome transport  nerve growth factor binding  perinuclear region of cytoplasm  negative regulation of lipoprotein lipase activity  positive regulation of epithelial cell apoptotic process  
Pathways : KEGGLysosome    Neurotrophin signaling pathway   
NDEx NetworkSORT1
Atlas of Cancer Signalling NetworkSORT1
Wikipedia pathwaysSORT1
Orthology - Evolution
OrthoDB6272
GeneTree (enSembl)ENSG00000134243
Phylogenetic Trees/Animal Genes : TreeFamSORT1
HOVERGENQ99523
HOGENOMQ99523
Homologs : HomoloGeneSORT1
Homology/Alignments : Family Browser (UCSC)SORT1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSORT1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SORT1
dbVarSORT1
ClinVarSORT1
1000_GenomesSORT1 
Exome Variant ServerSORT1
ExAC (Exome Aggregation Consortium)SORT1 (select the gene name)
Genetic variants : HAPMAP6272
Genomic Variants (DGV)SORT1 [DGVbeta]
DECIPHERSORT1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSORT1 
Mutations
ICGC Data PortalSORT1 
TCGA Data PortalSORT1 
Broad Tumor PortalSORT1
OASIS PortalSORT1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSORT1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSORT1
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 SORT1
DgiDB (Drug Gene Interaction Database)SORT1
DoCM (Curated mutations)SORT1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SORT1 (select a term)
intoGenSORT1
Cancer3DSORT1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM602458    613589   
Orphanet
MedgenSORT1
Genetic Testing Registry SORT1
NextProtQ99523 [Medical]
TSGene6272
GENETestsSORT1
Target ValidationSORT1
Huge Navigator SORT1 [HugePedia]
snp3D : Map Gene to Disease6272
BioCentury BCIQSORT1
ClinGenSORT1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6272
Chemical/Pharm GKB GenePA36023
Clinical trialSORT1
Miscellaneous
canSAR (ICR)SORT1 (select the gene name)
Probes
Litterature
PubMed138 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSORT1
EVEXSORT1
GoPubMedSORT1
iHOPSORT1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 25 19:32:28 CEST 2017

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