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UniProtKB - Q99523 (SORT_HUMAN)

Entry version 202 (10 Feb 2021)
Sequence version 3 (20 Dec 2005)
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Protein

Sortilin

Gene

SORT1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Functions as a sorting receptor in the Golgi compartment and as a clearance receptor on the cell surface. Required for protein transport from the Golgi apparatus to the lysosomes by a pathway that is independent of the mannose-6-phosphate receptor (M6PR). Lysosomal proteins bind specifically to the receptor in the Golgi apparatus and the resulting receptor-ligand complex is transported to an acidic prelysosomal compartment where the low pH mediates the dissociation of the complex. The receptor is then recycled back to the Golgi for another round of trafficking through its binding to the retromer. Also required for protein transport from the Golgi apparatus to the endosomes. Promotes neuronal apoptosis by mediating endocytosis of the proapoptotic precursor forms of BDNF (proBDNF) and NGFB (proNGFB). Also acts as a receptor for neurotensin. May promote mineralization of the extracellular matrix during osteogenic differentiation by scavenging extracellular LPL. Probably required in adipocytes for the formation of specialized storage vesicles containing the glucose transporter SLC2A4/GLUT4 (GLUT4 storage vesicles, or GSVs). These vesicles provide a stable pool of SLC2A4 and confer increased responsiveness to insulin. May also mediate transport from the endoplasmic reticulum to the Golgi.11 Publications

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionDevelopmental protein, Receptor
Biological processDifferentiation, Endocytosis, Osteogenesis, Transport

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q99523

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-432722, Golgi Associated Vesicle Biogenesis

Protein family/group databases

Transport Classification Database

More...TCDBi		9.A.63.1.3, the retromer-dependent vacuolar protein sorting (r-vps) family

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Sortilin
Alternative name(s):
100 kDa NT receptor
Glycoprotein 95
Short name:
Gp95
Neurotensin receptor 3
Short name:
NT3
Short name:
NTR3
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:SORT1
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 1

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:11186, SORT1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		602458, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q99523

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000134243.11

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini78 – 755ExtracellularSequence analysisAdd BLAST678
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei756 – 778HelicalSequence analysisAdd BLAST23
Topological domaini779 – 831CytoplasmicSequence analysisAdd BLAST53

Keywords - Cellular componenti

Cell membrane, Endoplasmic reticulum, Endosome, Golgi apparatus, Lysosome, Membrane, Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

A common polymorphism located in a non-coding region between CELSR2 and PSRC1 alters a CEBP transcription factor binding site and is responsible for changes in hepatic expression of SORT1. Altered SORT1 expression in liver affects low density lipoprotein cholesterol levels in plasma and is associated with susceptibility to myocardial infarction.

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi74 – 77RWRR → GWRA: Abrogates propeptide cleavage. 1 Publication4
Mutagenesisi76 – 77RR → GG: Abrogates propeptide cleavage. 1 Publication2
Mutagenesisi783C → S: Loss of palmitoylation. Decreased recycling from endosomes to the Golgi apparatus. Increased lysosomal degradation. 1 Publication1
Mutagenesisi792Y → A: Reduces endocytosis and Golgi to endosome sorting; when associated with A-795. 1 Publication1
Mutagenesisi795L → A: Reduces endocytosis and Golgi to endosome sorting; when associated with A-792. 1 Publication1
Mutagenesisi823 – 824DD → NN: Reduces interaction with GGA1. 1 Publication2
Mutagenesisi825S → A: Reduces interaction with GGA1. 1 Publication1
Mutagenesisi826 – 828DED → NQN: Abrogates interaction with GGA1 and impairs localization to the Golgi. 1 Publication3
Mutagenesisi829 – 830LL → AA: Abrogates interaction with GGA1 and impairs localization to the Golgi. 2 Publications2
Mutagenesisi829 – 830Missing : Abrogates interaction with GGA2. Reduces endocytosis and Golgi to endosome sorting; when associated with A-792 and A-795. 2 Publications2

Organism-specific databases

DisGeNET

More...DisGeNETi		6272

MalaCards human disease database

More...MalaCardsi		SORT1
MIMi613589, phenotype

Open Targets

More...OpenTargetsi		ENSG00000134243

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA36023

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q99523, Tchem

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL3091

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		SORT1

Domain mapping of disease mutations (DMDM)

More...DMDMi		84028263

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 33By similarityAdd BLAST33
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section describes a propeptide, which is a part of a protein that is cleaved during maturation or activation. Once cleaved, a propeptide generally has no independent biological function.<p><a href='/help/propep' target='_top'>More...</a></p>PropeptideiPRO_000003316234 – 77Removed in mature form1 PublicationAdd BLAST44
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000003316378 – 831SortilinAdd BLAST754

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi86 ↔ 556
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi98N-linked (GlcNAc...) asparagineCurated1
Glycosylationi162N-linked (GlcNAc...) asparagine2 Publications1
Disulfide bondi257 ↔ 277
Glycosylationi274N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi406N-linked (GlcNAc...) asparagine1 Publication1
Disulfide bondi448 ↔ 458
Glycosylationi582N-linked (GlcNAc...) asparagine1 Publication1
Disulfide bondi612 ↔ 651
Disulfide bondi634 ↔ 666
Disulfide bondi668 ↔ 723
Disulfide bondi675 ↔ 688
Glycosylationi684N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi702 ↔ 740
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section specifies the position(s) and the type of covalently attached lipid group(s).<p><a href='/help/lipid' target='_top'>More...</a></p>Lipidationi783S-palmitoyl cysteine1 Publication1
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei814PhosphoserineCombined sources1
Modified residuei819PhosphoserineCombined sources1
Modified residuei825PhosphoserineCombined sources1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

The N-terminal propeptide is cleaved by furin and possibly other homologous proteases.2 Publications
Palmitoylated (PubMed:18817523). Undergoes cysteine S-palmitoylation which promotes the partitioning of the receptor into an endosomal membrane subdomain where it can interact with the retromer cargo-selective complex which mediates its retrograde trafficking to the Golgi apparatus (PubMed:18817523).1 Publication
Phosphorylation at Ser-825 facilitates the interaction with GGA1.1 Publication

Keywords - PTMi

Cleavage on pair of basic residues, Disulfide bond, Glycoprotein, Lipoprotein, Palmitate, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q99523

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q99523

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q99523

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q99523

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q99523

PeptideAtlas

More...PeptideAtlasi		Q99523

PRoteomics IDEntifications database

More...PRIDEi		Q99523

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		5342
78309 [Q99523-1]

PTM databases

GlyConnect protein glycosylation platform

More...GlyConnecti		1765, 25 N-Linked glycans (4 sites)

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		Q99523, 9 sites, 3 N-linked glycans (2 sites)

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q99523

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q99523

SwissPalm database of S-palmitoylation events

More...SwissPalmi		Q99523

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed in brain and prostate (at protein level). Expressed at high levels in brain, spinal cord, heart, skeletal muscle, thyroid, placenta and testis. Expressed at lower levels in lymphoid organs, kidney, colon and liver.2 Publications

<p>This subsection of the 'Expression' section reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>Inductioni

During osteoblast differentiation.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000134243, Expressed in globus pallidus and 242 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q99523, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q99523, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000134243, Tissue enhanced (brain, epididymis)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with LPL and SLC2A4 (By similarity).

Interacts with the cytosolic adapter proteins GGA1 and GGA2 (PubMed:20015111).

Interacts with numerous ligands including the receptor-associated protein LRPAP1/RAP, GM2A and NTS.

Forms a complex with NGFR which binds specifically to the precursor forms of NGFB (proNGFB) and BDNF (proBDNF).

Interacts with the Trk receptors NTRK1, NTRK2 and NTRK3; may regulate their anterograde axonal transport and signaling.

Interacts with CLN5 (PubMed:22431521).

Interacts with PSAP (PubMed:22431521, PubMed:14657016).

Interacts with GRN; this interaction mediates endocytosis and lysosome delivery of progranulin; interaction occurs at the neuronal cell surface in a stressed nervous system (PubMed:21092856).

Interacts with the heterotrimeric retromer cargo-selective complex (CSC), also described as vacuolar protein sorting subcomplex (VPS), formed by VPS26 (VPS26A or VPS26B), VPS29 and VPS35; which is involved in retrograde trafficking of the receptor from endosomes to the Golgi apparatus (PubMed:18817523).

By similarity16 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		112180, 147 interactors

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		Q99523

Database of interacting proteins

More...DIPi		DIP-41798N

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

More...ELMi		Q99523

Protein interaction database and analysis system

More...IntActi		Q99523, 167 interactors

Molecular INTeraction database

More...MINTi		Q99523

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000256637

Chemistry databases

BindingDB database of measured binding affinities

More...BindingDBi		Q99523

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q99523, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1831
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q99523

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		Q99523

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati145 – 156BNR 1Add BLAST12
Repeati198 – 209BNR 2Add BLAST12
Repeati240 – 251BNR 3Add BLAST12
Repeati287 – 298BNR 4Add BLAST12
Repeati328 – 339BNR 5Add BLAST12
Repeati377 – 388BNR 6Add BLAST12
Repeati428 – 439BNR 7Add BLAST12
Repeati506 – 517BNR 8Add BLAST12
Repeati548 – 559BNR 9Add BLAST12

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni50 – 61Intrachain binding of the propeptide and the extracellular domainAdd BLAST12
Regioni612 – 756Interactions with LRPAP1 and NGFBAdd BLAST145
Regioni779 – 831Golgi to endosome transport and interactions with GGA1 and GGA2Add BLAST53

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi787 – 792Endocytosis signalCurated6
Motifi826 – 830DXXLL motif involved in the interaction with GGA11 Publication5

<p>This subsection of the 'Family and domains' section provides general information on the biological role of a domain. The term 'domain' is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The N-terminal propeptide may facilitate precursor transport within the Golgi stack. Intrachain binding of the N-terminal propeptide and the extracellular domain may also inhibit premature ligand binding.
The extracellular domain may be shed following protease cleavage in some cell types.

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the VPS10-related sortilin family. SORT1 subfamily.Curated

Keywords - Domaini

Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG3511, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00990000203671

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_013596_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q99523

Identification of Orthologs from Complete Genome Data

More...OMAi		FAPFYSV

Database of Orthologous Groups

More...OrthoDBi		1046610at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q99523

TreeFam database of animal gene trees

More...TreeFami		TF324918

Family and domain databases

Database of protein disorder

More...DisProti		DP01551

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		2.130.10.10, 2 hits

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR031777, Sortilin_C
IPR031778, Sortilin_N
IPR006581, VPS10
IPR015943, WD40/YVTN_repeat-like_dom_sf

Pfam protein domain database

More...Pfami		View protein in Pfam
PF15902, Sortilin-Vps10, 1 hit
PF15901, Sortilin_C, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00602, VPS10, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q99523-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MERPWGAADG LSRWPHGLGL LLLLQLLPPS TLSQDRLDAP PPPAAPLPRW 
        60         70         80         90        100
SGPIGVSWGL RAAAAGGAFP RGGRWRRSAP GEDEECGRVR DFVAKLANNT 
       110        120        130        140        150
HQHVFDDLRG SVSLSWVGDS TGVILVLTTF HVPLVIMTFG QSKLYRSEDY 
       160        170        180        190        200
GKNFKDITDL INNTFIRTEF GMAIGPENSG KVVLTAEVSG GSRGGRIFRS 
       210        220        230        240        250
SDFAKNFVQT DLPFHPLTQM MYSPQNSDYL LALSTENGLW VSKNFGGKWE 
       260        270        280        290        300
EIHKAVCLAK WGSDNTIFFT TYANGSCKAD LGALELWRTS DLGKSFKTIG 
       310        320        330        340        350
VKIYSFGLGG RFLFASVMAD KDTTRRIHVS TDQGDTWSMA QLPSVGQEQF 
       360        370        380        390        400
YSILAANDDM VFMHVDEPGD TGFGTIFTSD DRGIVYSKSL DRHLYTTTGG 
       410        420        430        440        450
ETDFTNVTSL RGVYITSVLS EDNSIQTMIT FDQGGRWTHL RKPENSECDA 
       460        470        480        490        500
TAKNKNECSL HIHASYSISQ KLNVPMAPLS EPNAVGIVIA HGSVGDAISV 
       510        520        530        540        550
MVPDVYISDD GGYSWTKMLE GPHYYTILDS GGIIVAIEHS SRPINVIKFS 
       560        570        580        590        600
TDEGQCWQTY TFTRDPIYFT GLASEPGARS MNISIWGFTE SFLTSQWVSY 
       610        620        630        640        650
TIDFKDILER NCEEKDYTIW LAHSTDPEDY EDGCILGYKE QFLRLRKSSV 
       660        670        680        690        700
CQNGRDYVVT KQPSICLCSL EDFLCDFGYY RPENDSKCVE QPELKGHDLE 
       710        720        730        740        750
FCLYGREEHL TTNGYRKIPG DKCQGGVNPV REVKDLKKKC TSNFLSPEKQ 
       760        770        780        790        800
NSKSNSVPII LAIVGLMLVT VVAGVLIVKK YVCGGRFLVH RYSVLQQHAE 
       810        820        830 
ANGVDGVDAL DTASHTNKSG YHDDSDEDLL E
Length:831
Mass (Da):92,068
Last modified:December 20, 2005 - v3
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i91F96A3035A4B43A
GO
Isoform 2 (identifier: Q99523-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-136: Missing.
     278-279: KA → T

Show »
Length:694
Mass (Da):77,375
Checksum:i4F80EC724C360750
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A0J9YVU2A0A0J9YVU2_HUMAN
Sortilin
SORT1
104Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0J9YY30A0A0J9YY30_HUMAN
Sortilin
SORT1
20Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0J9YX61A0A0J9YX61_HUMAN
Sortilin
SORT1
118Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0J9YVX1A0A0J9YVX1_HUMAN
Sortilin
SORT1
60Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti650V → M in CAA66904 (PubMed:9013611).Curated1

<p>This subsection of the 'Sequence' section provides information on polymorphic variants. If the variant is associated with a disease state, the description of the latter can be found in the <a href="http://www.uniprot.org/manual/involvement%5Fin%5Fdisease">'Involvement in disease'</a> subsection.<p><a href='/help/polymorphism' target='_top'>More...</a></p>Polymorphismi

Genetic variations in SORT1 influence low density lipoprotein cholesterol (LDL-C) variability and contribute to the low density lipoprotein cholesterol level quantitative trait locus 6 (LDLCQ6) [MIMi:613589].

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_053681358D → Y. Corresponds to variant dbSNP:rs2228605EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0462391 – 136Missing in isoform 2. 1 PublicationAdd BLAST136
Alternative sequenceiVSP_046240278 – 279KA → T in isoform 2. 1 Publication2

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
X98248 mRNA Translation: CAA66904.2
FJ525881 Genomic DNA Translation: ACN81319.1
AK301548 mRNA Translation: BAG63045.1
AL390252 Genomic DNA No translation available.
BC023542 mRNA Translation: AAH23542.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS55618.1 [Q99523-2]
CCDS798.1 [Q99523-1]

NCBI Reference Sequences

More...RefSeqi		NP_001192157.1, NM_001205228.1 [Q99523-2]
NP_002950.3, NM_002959.6 [Q99523-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000256637; ENSP00000256637; ENSG00000134243 [Q99523-1]
ENST00000538502; ENSP00000438597; ENSG00000134243 [Q99523-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		6272

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:6272

UCSC genome browser

More...UCSCi		uc001dxm.3, human [Q99523-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X98248 mRNA Translation: CAA66904.2
FJ525881 Genomic DNA Translation: ACN81319.1
AK301548 mRNA Translation: BAG63045.1
AL390252 Genomic DNA No translation available.
BC023542 mRNA Translation: AAH23542.1
CCDSiCCDS55618.1 [Q99523-2]
CCDS798.1 [Q99523-1]
RefSeqiNP_001192157.1, NM_001205228.1 [Q99523-2]
NP_002950.3, NM_002959.6 [Q99523-1]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3F6KX-ray2.00A78-756[»]
3G2UX-ray2.30C/D819-831[»]
3G2VX-ray2.10C/D819-831[»]
4MSLX-ray2.70A78-756[»]
4N7EX-ray2.70A78-756[»]
4PO7X-ray2.66A78-756[»]
5MRHX-ray2.50A78-756[»]
5MRIX-ray2.00A78-756[»]
6EHOX-ray3.50A34-756[»]
6X3LX-ray2.70A1-756[»]
6X48X-ray2.90A86-748[»]
6X4HX-ray2.90A86-748[»]
SMRiQ99523
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi112180, 147 interactors
CORUMiQ99523
DIPiDIP-41798N
ELMiQ99523
IntActiQ99523, 167 interactors
MINTiQ99523
STRINGi9606.ENSP00000256637

Chemistry databases

BindingDBiQ99523
ChEMBLiCHEMBL3091

Protein family/group databases

TCDBi9.A.63.1.3, the retromer-dependent vacuolar protein sorting (r-vps) family

PTM databases

GlyConnecti1765, 25 N-Linked glycans (4 sites)
GlyGeniQ99523, 9 sites, 3 N-linked glycans (2 sites)
iPTMnetiQ99523
PhosphoSitePlusiQ99523
SwissPalmiQ99523

Genetic variation databases

BioMutaiSORT1
DMDMi84028263

Proteomic databases

EPDiQ99523
jPOSTiQ99523
MassIVEiQ99523
MaxQBiQ99523
PaxDbiQ99523
PeptideAtlasiQ99523
PRIDEiQ99523
ProteomicsDBi5342
78309 [Q99523-1]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		1533, 259 antibodies

The DNASU plasmid repository

More...DNASUi		6272

Genome annotation databases

EnsembliENST00000256637; ENSP00000256637; ENSG00000134243 [Q99523-1]
ENST00000538502; ENSP00000438597; ENSG00000134243 [Q99523-2]
GeneIDi6272
KEGGihsa:6272
UCSCiuc001dxm.3, human [Q99523-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		6272
DisGeNETi6272

GeneCards: human genes, protein and diseases

More...GeneCardsi		SORT1
HGNCiHGNC:11186, SORT1
HPAiENSG00000134243, Tissue enhanced (brain, epididymis)
MalaCardsiSORT1
MIMi602458, gene
613589, phenotype
neXtProtiNX_Q99523
OpenTargetsiENSG00000134243
PharmGKBiPA36023
VEuPathDBiHostDB:ENSG00000134243.11

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG3511, Eukaryota
GeneTreeiENSGT00990000203671
HOGENOMiCLU_013596_0_0_1
InParanoidiQ99523
OMAiFAPFYSV
OrthoDBi1046610at2759
PhylomeDBiQ99523
TreeFamiTF324918

Enzyme and pathway databases

PathwayCommonsiQ99523
ReactomeiR-HSA-432722, Golgi Associated Vesicle Biogenesis

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		6272, 7 hits in 875 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		SORT1, human
EvolutionaryTraceiQ99523

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		Sortilin_1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		6272
PharosiQ99523, Tchem

Protein Ontology

More...PROi		PR:Q99523
RNActiQ99523, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000134243, Expressed in globus pallidus and 242 other tissues
ExpressionAtlasiQ99523, baseline and differential
GenevisibleiQ99523, HS

Family and domain databases

DisProtiDP01551
Gene3Di2.130.10.10, 2 hits
InterProiView protein in InterPro
IPR031777, Sortilin_C
IPR031778, Sortilin_N
IPR006581, VPS10
IPR015943, WD40/YVTN_repeat-like_dom_sf
PfamiView protein in Pfam
PF15902, Sortilin-Vps10, 1 hit
PF15901, Sortilin_C, 1 hit
SMARTiView protein in SMART
SM00602, VPS10, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiSORT_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q99523
Secondary accession number(s): B4DWI3, C0JYZ0, Q8IZ49
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: December 20, 2005
Last modified: February 10, 2021
This is version 202 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Direct protein sequencing, Reference proteome

Documents

  1. Human variants curated from literature reports
    Index of human variants curated from literature reports
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  4. SIMILARITY comments
    Index of protein domains and families
  5. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  6. Human entries with genetic variants
    List of human entries with genetic variants
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