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FLASH GENE

Symbol

RER1

contributors: mct - updated : 15-03-2018

HGNC name	RER1 retention in endoplasmic reticulum 1 homolog (S. cerevisiae)
HGNC id	30309

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

EXPRESSION

Type	ubiquitous

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 Cardiovascular heart       lowly   vessel       lowly Digestive intestine small intestine     moderately   mouth tongue     lowly   pancreas exocrine       moderately Lymphoid/Immune lymph node       highly   spleen       highly Nervous brain       moderately Reproductive female system uterus     lowly   female system placenta     moderately   female system ovary     highly   female system breast mammary gland   moderately   male system prostate     lowly Respiratory lung       highly Skin/Tegument skin       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / hematopoietic bone marrow

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

pregnancy

Text

placenta

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

interspecies

homolog to murine Rer1

Homologene

FAMILY

RER1 family

CATEGORY

transport

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,Golgi

basic FUNCTION	involved in the retrieval of endoplasmic reticulum membrane proteins from the early Golgi compartment
	RER1, a putative Golgi-ER retrieval receptor, is involved in the biogenesis of acetylcholine receptors
	is the first endoplasmic reticulum/cis-Golgi-localized membrane protein involved in ciliogenesis
	regulates the ER retention of immature or misfolded rhodopsin and modulates its intracellular trafficking through the early secretory pathway
	is a sorting receptor in the early secretory pathway that controls the assembly and the cell surface transport of selected multimeric membrane protein complexes
	is a novel and potential important mediator of elevated SNCA levels

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

cellular trafficking transport

text	retrograde transport, Golgi to ER

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	downregulation of RER1 leads to increased surface localization of PSENEN, whereas overexpression of RER1 stabilizes unassembled PSENEN
	RER1 regulates the trafficking of gamma-secretase and APP
	is a functionally important unique factor that controls surface expression of muscle acetylcholine receptors by localizing unassembled alpha-subunits to the early secretory pathway
	RER1 depletion reduced ciliary length and function by increasing gamma-secretase complex assembly and activity and, consequently, enhancing NOTCH1 signaling as well as reducing FOXJ1 expression
	controls the assembly and transport of SCN1A, SCN8A, the principal sodium channels responsible for recurrent firing, in Purkinje cell (PC)

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 loss of RER1 resulted in the shortening of cilium and impairment of its motile or sensory function, which was reflected by hearing, vision, and left-right asymmetry defects as well as decreased Hedgehog signaling

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS