Hs06282161_cn

• Gene Symbol: LOC105369535
• Assay Reference Genome Location: Chr.11:121482671 on build GRCh38
• Cytoband: 11q24.1

Target Gene Details

• Entrez Gene ID: 105369535
• Gene Name: uncharacterized LOC105369535
• Gene Aliases: -
• Location: Chr.11:121472920-121484806 on Build GRCh38
• Assay Gene Location: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
LOC105369535	XM_017018646.1	1	2136	XP_016874135.1
	XM_017018647.1	1	2136	XP_016874136.1
	XM_017018648.1	1	2136	XP_016874137.1
	XM_017018649.1	1	2136	XP_016874138.1
	XM_017018650.1	1	2136	XP_016874139.1
	XM_017018651.1	1	2136	XP_016874140.1

Target Gene Details

• Entrez Gene ID: 6653
• Gene Name: sortilin related receptor 1
• Gene Aliases: C11orf32, LR11, LRP9, SORLA, SorLA-1, gp250
• Location: Chr.11:121452203-121633762 on Build GRCh38
• Assay Gene Location: Within Intron 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SORL1	NM_003105.5			NP_003096.1
	XM_011542963.2			XP_011541265.1
	XM_017018169.1			XP_016873658.1
	XM_017018171.1			XP_016873660.1
	AK309523.1
	BC137171.1
	BX365721.2
	DN831521.1
	Y08110.1			CAA69325.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv512242	Chr.11:121480887 - 121484209 on Build GRCh38	Loss	SORL1 LOC105369535

More Information

• Set Membership: Intragenic, Exonic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

chaperone, apolipoprotein, membrane traffic protein

Gene Ontology Categories:

Process(es)

protein targeting to Golgi
protein targeting
protein targeting to lysosome
lipid transport
post-Golgi vesicle-mediated transport
receptor-mediated endocytosis
signal transduction
cholesterol metabolic process
regulation of smooth muscle cell migration
negative regulation of protein binding
negative regulation of protein oligomerization
negative regulation of MAP kinase activity
protein retention in Golgi apparatus
positive regulation of protein catabolic process
negative regulation of neurogenesis
protein maturation
positive regulation of protein exit from endoplasmic reticulum
negative regulation of neuron death
negative regulation of beta-amyloid formation
positive regulation of choline O-acetyltransferase activity
negative regulation of tau-protein kinase activity
positive regulation of ER to Golgi vesicle-mediated transport
positive regulation of early endosome to recycling endosome transport
negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process
negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process
positive regulation of protein localization to early endosome
negative regulation of neurofibrillary tangle assembly
positive regulation of endocytic recycling

Function(s)

beta-amyloid binding
transmembrane signaling receptor activity
protein binding
low-density lipoprotein particle binding
ADP-ribosylation factor binding