• Gene id: 6272

Gene Summary

• Gene Symbol: SORT1   Gene   UCSC   Ensembl
• Aliases: Gp95, LDLCQ6, NT3, NTR3
• Gene name: sortilin 1
• Alternate names: sortilin, 100 kDa NT receptor, glycoprotein 95, neurotensin receptor 3,
• Gene location: 1p21.3-p13.1 (109397939: 109309564)     Exons: 23     NC_000001.11
• Gene summary(Entrez): This gene encodes a member of the VPS10-related sortilin family of proteins. The encoded preproprotein is proteolytically processed by furin to generate the mature receptor. This receptor plays a role in the trafficking of different proteins to either the
• OMIM: 602458

Protein Summary

• Protein general information: Q99523  
  • Name: Sortilin (100 kDa NT receptor) (Glycoprotein 95) (Gp95) (Neurotensin receptor 3) (NT3) (NTR3)
  • Length: 831  
  • Mass: 92068
  • Tissue specificity: 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. {ECO
• Sequence:

  MERPWGAADGLSRWPHGLGLLLLLQLLPPSTLSQDRLDAPPPPAAPLPRWSGPIGVSWGLRAAAAGGAFPRGGRW
  RRSAPGEDEECGRVRDFVAKLANNTHQHVFDDLRGSVSLSWVGDSTGVILVLTTFHVPLVIMTFGQSKLYRSEDY
  GKNFKDITDLINNTFIRTEFGMAIGPENSGKVVLTAEVSGGSRGGRIFRSSDFAKNFVQTDLPFHPLTQMMYSPQ
  NSDYLLALSTENGLWVSKNFGGKWEEIHKAVCLAKWGSDNTIFFTTYANGSCKADLGALELWRTSDLGKSFKTIG
  VKIYSFGLGGRFLFASVMADKDTTRRIHVSTDQGDTWSMAQLPSVGQEQFYSILAANDDMVFMHVDEPGDTGFGT
  IFTSDDRGIVYSKSLDRHLYTTTGGETDFTNVTSLRGVYITSVLSEDNSIQTMITFDQGGRWTHLRKPENSECDA
  TAKNKNECSLHIHASYSISQKLNVPMAPLSEPNAVGIVIAHGSVGDAISVMVPDVYISDDGGYSWTKMLEGPHYY
  TILDSGGIIVAIEHSSRPINVIKFSTDEGQCWQTYTFTRDPIYFTGLASEPGARSMNISIWGFTESFLTSQWVSY
  TIDFKDILERNCEEKDYTIWLAHSTDPEDYEDGCILGYKEQFLRLRKSSVCQNGRDYVVTKQPSICLCSLEDFLC
  DFGYYRPENDSKCVEQPELKGHDLEFCLYGREEHLTTNGYRKIPGDKCQGGVNPVREVKDLKKKCTSNFLSPEKQ
  NSKSNSVPIILAIVGLMLVTVVAGVLIVKKYVCGGRFLVHRYSVLQQHAEANGVDGVDALDTASHTNKSGYHDDS
  DEDLLE

• Structural information:
  • Interpro: IPR031777  IPR031778  IPR006581  IPR015943  
  • PDB: 3F6K 3G2U 3G2V 4MSL 4N7E 4PO7 5MRH 5MRI 6EHO
  • PDBsum: 3F6K 3G2U 3G2V 4MSL 4N7E 4PO7 5MRH 5MRI 6EHO
  • DIP: 41798
  • STRING: ENSP00000256637
• Other Databases: GeneCards:  SORT1  Malacards:  SORT1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016021	integral component of membrane	IBA	cellular component
GO:0006897	endocytosis	IBA	biological process
GO:0006895	Golgi to endosome transport	IBA	biological process
GO:0006892	post-Golgi vesicle-mediated transport	IBA	biological process
GO:0016050	vesicle organization	IBA	biological process
GO:0005794	Golgi apparatus	IBA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0005764	lysosome	IDA	cellular component
GO:0010008	endosome membrane	IDA	cellular component
GO:1905394	retromer complex binding	IDA	molecular function
GO:0006897	endocytosis	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0001503	ossification	IEA	biological process
GO:0005768	endosome	IEA	cellular component
GO:0030154	cell differentiation	IEA	biological process
GO:0005764	lysosome	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0006897	endocytosis	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0046323	glucose import	IEA	biological process
GO:0045599	negative regulation of fat cell differentiation	IEA	biological process
GO:0032868	response to insulin	IEA	biological process
GO:0030659	cytoplasmic vesicle membrane	IEA	cellular component
GO:0030140	trans-Golgi network transport vesicle	IEA	cellular component
GO:0016050	vesicle organization	IEA	biological process
GO:0014902	myotube differentiation	IEA	biological process
GO:0043231	intracellular membrane-bounded organelle	IEA	cellular component
GO:0030425	dendrite	IEA	cellular component
GO:0006897	endocytosis	IEA	biological process
GO:0006622	protein targeting to lysosome	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:1904037	positive regulation of epithelial cell apoptotic process	IEA	biological process
GO:0043025	neuronal cell body	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0010465	nerve growth factor receptor activity	IDA	molecular function
GO:0048406	nerve growth factor binding	IPI	molecular function
GO:0030379	neurotensin receptor activity, non-G protein-coupled	IDA	molecular function
GO:0019899	enzyme binding	IPI	molecular function
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0005905	clathrin-coated pit	IDA	cellular component
GO:0007218	neuropeptide signaling pathway	IDA	biological process
GO:0008333	endosome to lysosome transport	IDA	biological process
GO:0008625	extrinsic apoptotic signaling pathway via death domain receptors	IDA	biological process
GO:0031410	cytoplasmic vesicle	IDA	cellular component
GO:0016050	vesicle organization	IDA	biological process
GO:0032509	endosome transport via multivesicular body sorting pathway	IDA	biological process
GO:0048227	plasma membrane to endosome transport	IDA	biological process
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0051005	negative regulation of lipoprotein lipase activity	IDA	biological process
GO:0005769	early endosome	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0006895	Golgi to endosome transport	IDA	biological process
GO:0006897	endocytosis	IDA	biological process
GO:0009986	cell surface	IDA	cellular component
GO:0016021	integral component of membrane	IDA	cellular component
GO:0030136	clathrin-coated vesicle	IDA	cellular component
GO:0014902	myotube differentiation	IMP	biological process
GO:0032868	response to insulin	IMP	biological process
GO:0046323	glucose import	IMP	biological process
GO:0005886	plasma membrane	NAS	cellular component
GO:0007186	G protein-coupled receptor signaling pathway	IMP	biological process
GO:0010468	regulation of gene expression	IMP	biological process
GO:0048011	neurotrophin TRK receptor signaling pathway	IMP	biological process
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005765	lysosomal membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0010008	endosome membrane	IEA	cellular component
GO:0032580	Golgi cisterna membrane	IEA	cellular component
GO:0031965	nuclear membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0038180	nerve growth factor signaling pathway	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa04142	Lysosome
hsa04722	Neurotrophin signaling pathway
hsa04979	Cholesterol metabolism

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881