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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

SORT1 Gene

protein-coding GIFtS: 63
GCID: GC01M109852

sortilin 1

Explore 35 diseases affiliated with
SORT1 via

MalaCards

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Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Sortilin 1¹ ²		100 KDa NT Receptor² ³
NT3¹ ² ³ ⁵		NTR3² ³
Gp95¹ ² ³		LDLCQ6² ⁵
Glycoprotein 95² ³		Sortilin¹
Neurotensin Receptor 3² ³

External Ids:	HGNC: 11186¹	Entrez Gene: 6272²	Ensembl: ENSG00000134243⁷	OMIM: 602458⁵	UniProtKB: Q99523³

Export aliases for SORT1 gene to outside databases

Previous GC identifers: GC01M110335 GC01M108785 GC01M108957 GC01M109155 GC01M109568 GC01M109653 GC01M107745

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for SORT1:

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)

UniProtKB/Swiss-Prot: SORT_HUMAN, Q99523

Function: 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). 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

Gene Wiki entry for SORT1 (Sortilin 1)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000001.10 NC_018912.1 NT_032977.9

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the SORT1 gene promoter:
TBP Pbx1a Nkx2-5 AREB6 MEF-2A TFIID aMEF-2 NF-E2 NF-kappaB1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): SORT1 promoter sequence

Search SABiosciences Chromatin IP Primers for SORT1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SORT1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p13.3|1p21.3-p13.1 Ensembl cytogenetic band: 1p13.3 HGNC cytogenetic band: 1p13.3

SORT1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SORT1 gene location

GeneLoc information about chromosome 1 GeneLoc Exon Structure

GeneLoc location for GC01M109852: view genomic region (about GC identifiers)

Start:	109,852,192 bp from pter	End:	109,940,573 bp from pter
Size:	88,382 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: SORT_HUMAN, Q99523 (See protein sequence)

Recommended Name: Sortilin precursor

Size: 831 amino acids; 92068 Da

Subunit: Interacts with LPL and SLC2A4 (By similarity). Interacts with the cytosolic adapter proteins GGA1 and GGA2.

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

Subcellular location: Membrane; Single-pass type I membrane protein. Endoplasmic reticulum membrane; Single-pass type I

membrane protein (Potential). Endosome membrane; Single-pass type I membrane protein (Potential). Golgi apparatus,

Golgi stack membrane; Single-pass type I membrane protein (Potential). Nucleus membrane; Single-pass type I membrane

protein (Potential). Cell membrane; Single-pass type I membrane protein; Extracellular side. Lysosome membrane;

Single-pass type I membrane protein (Potential). Note=Localized to membranes of the endoplasmic reticulum, endosomes,

Golgi stack, lysosomes and nucleus. A small fraction of the protein is also localized to the plasma membrane. May also

be found in SLC2A4/GLUT4 storage vesicles (GSVs) in adipocytes. Localization to the plasma membrane in adipocytes may

be enhanced by insulin

3 PDB 3D structures from and Proteopedia for SORT1:

3F6K (3D)

3G2U (3D)

3G2V (3D)

Secondary accessions: B4DWI3 C0JYZ0 Q8IZ49

Alternative splicing: 2 isoforms: Q99523-1 Q99523-2 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SORT1: NX_Q99523

Post-translational modifications:

The N-terminal propeptide is cleaved by furin and possibly other homologous proteases¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q99523

SORT1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_001192157.1 NP_002950.3

ENSEMBL proteins:

ENSP00000256637 ENSP00000438597

Reactome Protein details: Q99523
Human Recombinant Protein Products for SORT1:

	Browse Purified and Recombinant Proteins at EMD Millipore
	R&D Systems Recombinant & Natural Proteins for SORT1 (Sortilin)
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Browse OriGene full length recombinant human proteins expressed in human HEK293 cells Browse OriGene Protein Over-expression Lysates OriGene Custom Protein Services for SORT1
	GenScript Custom Purified and Recombinant Proteins Services for SORT1
	Novus Biologicals SORT1 Protein
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for SORT1

Gene Ontology (GO): 5/21 cellular component terms (GO ID links to tree view) (see all 21): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005737	cytoplasm	IDA	--
GO:0005765	lysosomal membrane	IEA	--
GO:0005768	endosome	NAS	--
GO:0005769	early endosome	IDA	11331584
GO:0005789	endoplasmic reticulum membrane	IEA	--

SORT1 for ontologies About GeneDecksing

SORT1 Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of SORT1
	R&D Systems Antibodies for SORT1 (Sortilin)
	Browse OriGene Antibodies OriGene Custom Antibody Services for SORT1
	GenScript Custom Superior Antibodies Services for SORT1
	Novus Biologicals SORT1 Antibodies
	Abcam antibodies for SORT1
	Uscn Antibodies for SORT1
	ThermoFisher Antibodies for SORT1

Assay Products for SORT1:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for SORT1
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for SORT1

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

SORT1 for domains About GeneDecksing

2 InterPro domains/families:

IPR006581 VPS10

IPR015943 WD40/YVTN_repeat-like_dom

Graphical View of Domain Structure for InterPro Entry Q99523

ProtoNet protein and cluster: Q99523

1 Blocks protein family: IPB006581 VPS10

UniProtKB/Swiss-Prot: SORT_HUMAN, Q99523

Domain: 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

Domain: The extracellular domain may be shed following protease cleavage in some cell types

Similarity: Belongs to the VPS10-related sortilin family. SORT1 subfamily

Similarity: Contains 9 BNR repeats

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: SORT_HUMAN, Q99523