Version 5.4
Homo sapiens Gene: SORT1
Summary
InnateDB Gene IDBG-100814.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol SORT1
Gene Name sortilin 1
Synonyms Gp95; LDLCQ6; NT3
Species Homo sapiens
Ensembl Gene ENSG00000134243
Encoded Proteins
IDBP-100816
sortilin 1
IDBP-589919
sortilin 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a protein that is a multi-ligand type-1 receptor with similarity to the yeast carboxypeptidase Y sorting receptor Vps10 protein. The encoded protein, a trans-Golgi network (TGN) transmembrane protein, binds a number of unrelated ligands that participate in a wide range of cellular processes; however, it lacks the typical features of a signalling receptor. In the TGN, furin mediates the activation of the mature binding form. The encoded protein consists of a large luminal domain, a single transmembrane segment and short C-terminal cytoplasmic tail. The luminal domain contains a cysteine-rich region similar to two corresponding segments in the yeast Vps10p; the cytoplasmic tail is similar to the corresponding segment of the cation-independent mannose 6-phosphate receptor and the tail also interacts with the VHS domains of GGA (Golgi-associated, gamma-adaptin homologous, ARF-interacting) proteins. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 1:109309568-109397951
Strand Reverse strand
Band p13.3
Transcripts
ENST00000256637 ENSP00000256637
ENST00000485149
ENST00000466471
ENST00000493736
ENST00000482236
ENST00000483508
ENST00000495777
ENST00000471996
ENST00000538502 ENSP00000438597
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 30 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
Experimentally validated
Total 30 [view]
Protein-Protein 29 [view]
Protein-DNA 0
Protein-RNA 1 [view]
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 2 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0010465 nerve growth factor receptor activity
GO:0019899 enzyme binding
GO:0030379 neurotensin receptor activity, non-G-protein coupled
GO:0048406 nerve growth factor binding
Biological Process
GO:0001503 ossification
GO:0006895 Golgi to endosome transport
GO:0006897 endocytosis
GO:0007186 G-protein coupled receptor signaling pathway
GO:0007218 neuropeptide signaling pathway
GO:0007275 multicellular organismal development
GO:0008333 endosome to lysosome transport
GO:0008625 extrinsic apoptotic signaling pathway via death domain receptors
GO:0010468 regulation of gene expression
GO:0014902 myotube differentiation
GO:0016050 vesicle organization
GO:0032509 endosome transport via multivesicular body sorting pathway
GO:0032868 response to insulin
GO:0038180 nerve growth factor signaling pathway
GO:0046323 glucose import
GO:0048011 neurotrophin TRK receptor signaling pathway
GO:0048227 plasma membrane to endosome transport
GO:0051005 negative regulation of lipoprotein lipase activity
Cellular Component
GO:0005765 lysosomal membrane
GO:0005769 early endosome
GO:0005789 endoplasmic reticulum membrane
GO:0005794 Golgi apparatus
GO:0005886 plasma membrane
GO:0005905 coated pit
GO:0009986 cell surface
GO:0010008 endosome membrane
GO:0016021 integral component of membrane
GO:0016023 cytoplasmic membrane-bounded vesicle
GO:0030136 clathrin-coated vesicle
GO:0030140 trans-Golgi network transport vesicle
GO:0031965 nuclear membrane
GO:0032580 Golgi cisterna membrane
GO:0048471 perinuclear region of cytoplasm
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000068747
View Gene Order
ENSBTAG00000008849
Not yet available
Pathways
NETPATH
REACTOME
REACT_19400
Golgi Associated Vesicle Biogenesis pathway
REACT_19187
Clathrin derived vesicle budding pathway
REACT_11235
trans-Golgi Network Vesicle Budding pathway
REACT_11123
Membrane Trafficking pathway
KEGG
hsa04142
Lysosome pathway
hsa04722
Neurotrophin signaling pathway pathway
INOH
PID NCI
p75ntrpathway
p75(NTR)-mediated signaling
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.485195 Hs.703487 Hs.707752
RefSeq NM_001205228 NM_002959 XM_005271100 XM_005271101 XM_005271102 XM_006710812
HUGO
OMIM
CCDS CCDS55618 CCDS798
HPRD 03910
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca