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FLASH GENE

Symbol

SORCS1

contributors: mct/npt - updated : 07-07-2020

HGNC name	sortilin-related VPS10 domain containing receptor 1
HGNC id	16697

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	10q25.1      Physical location : 108.333.421 - 108.924.292
Synonym name	SORCS receptor 1
	VPS10 domain receptor SorCS
	VPS10 domain receptor protein SORCS 1
Synonym symbol(s)	FLJ41758, FLJ43475, FLJ44957

DNA

TYPE	functioning gene
SPECIAL FEATURE	overlapping, gene in gene
text	with SORCS3
STRUCTURE	607.48 kb     27 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

Map	cen - D10S566 - D10S1778 - SORCS1 - D10S1741 - D10S1741 - qter

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_052918 26 - 7272 NP_443150 - 1168 Cerebral - cortex Neurons in layers 3 and 5 Hippocampus - Pyramidal neurons, mainly in CA1 Cerebellum, olfactory tubercle - Purkinje cells 2014 24128306 internalized through a DXXLL motif cytoplasmic domain interacts with the alphaC/sigma2 subunits of the adaptor protein (AP)-2 complex NM_001013031 23 - 7163 NP_001013049 - 1198 - 2014 24128306 NM_001206570 26 - 7174 NP_001193499 - 1130 - 2014 24128306 NM_001206572 27 - 7605 NP_001193501 - 1179 - 2014 24128306 NM_001206569 26 - 5616 NP_001193498 - 1179 - 2014 24128306 NM_001206571 25 - 4257 NP_001193500 - 1159 - 2014 24128306

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive liver       lowly Endocrine adrenal gland       highly Hearing/Equilibrium ear       highly Nervous brain diencephalon hypothalamus   highly Homo sapiens Urinary kidney       lowly Visual eye       highly

cells

System Cell Pubmed Species Stage Rna symbol Nervous neuron Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo

Text	brain, retina

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N terminal UPS10 domain
	leucine rich repeat domain
	transmembrane domain
	a intracellular domain
	5 BNR repeats
	a PKD domain

HOMOLOGY

interspecies

homolog to murine Sorc1

intraspecies

paralog to sorcs2,sorcs3

Homologene

FAMILY

vacuolar protein sorting 10 (VPS10) domain-containing receptor proteins

CATEGORY

receptor

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,Golgi
text	type I transmembrane protein

basic FUNCTION	having a neuropeptide receptor activity
	mediate intracellular protein trafficking and sorting (Nielsen 2008)
	with SORCS2 and SORCS3, have diverse, but partly overlapping functions in the developing and mature central nervous system (Hermey 2004)
	SORL1, SORCS1, SORCS2, and SORCS3) play pleiotropic functions in protein trafficking and intracellular and intercellular signaling in neuronal and non-neuronal cells
	SORCS1 is sufficient to promote secretory granule biogenesis
	sortilin, SORL1, SORCS1, SORCS2, and SORCS3) modulate neurotrophic signaling pathways
	SORCS1 and SORCS3 control energy balance and orexigenic peptide production
	SORCS1-mediated sorting in dendritic endosomes controls NRXN1 axonal surface polarization required for proper synapse development and function

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	platelet-derived growth factor-BB (PDGF-BB) (Nielsen 2008)
	sortilin (SORT1) and sortilin-related receptor, L(DLR class) A repeats-containing (SORLA)
	new role for SORCS1 as a modulator of SORT1 function
	SORCS1 localizes to early and recycling endosomes and regulates neurexin and AMPAR surface trafficking
	SORCS1 is a critical regulator of trafficking of neuronal receptors, including the presynaptic adhesion molecule neurexin (NRXN1), an essential synaptic organizer

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional       loss of function may contribute to both the APP/Abeta disturbance underlying Alzheimer disease and the insulin/glucose disturbance underlying Dibetes mellitus

Susceptibility

to type 2 diabetes (Goodarzi 2007)

Variant & Polymorphism SNP	genetic variations in SORCS1 may be associated and have modest effect to the risk of Alzheimer Disease by affecting Abeta pathway

Candidate gene	candidate gene involved in the Abeta pathway
Marker
Therapy target

ANIMAL & CELL MODELS