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FLASH GENE

Symbol

REEP1

contributors: mct/npt - updated : 05-04-2016

HGNC name	receptor accessory protein 1
HGNC id	25786

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	DHMN5B distal hereditary motor neuronopathy type VB SPG31 spastic paraplegia 31
Location	2p11.2      Physical location : 86.441.121 - 86.565.206
Synonym name	chromosome 2 open reading frame 23
	receptor expression enhancing protein 1
Synonym symbol(s)	C2orf23, FLJ13110

DNA

TYPE	functioning gene
STRUCTURE	123.66 kb     7 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_022912 7 - 3868 NP_075063 22.1 201 - 2014 24478229 NM_001164731 6 - 3795 NP_001158203 - 174 - 2014 24478229 NM_001164730 7 - 3752 NP_001158202 - 208 - 2014 24478229 NM_001164732 5 - 3633 NP_001158204 - 143 - 2014 24478229

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 Nervous brain         Homo sapiens   spinal cord anterior horn       Homo sapiens Reproductive male system testis     highly Homo sapiens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Nervous peripherous       Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N-terminus of REEP1 is necessary for proper targeting to and/or retention in the ER
	two transmembrane domains, the first of which may function as a signal peptide
	common domain REEP5/DP, and HVA22

HOMOLOGY

Homologene

FAMILY

DP1 family

CATEGORY

receptor membrane G

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum
text	is present at the ER-mitochondria interface, and it contains subdomains for mitochondrial as well as ER localization

basic FUNCTION	may enhance the cell surface expression of odorant receptors
	involved in chaperone-like activities
	co-overexpression of ATL1 and REEP1, generates large Lipid droplets (LDs)
	membrane shaping adapter protein that modulate specific G protein-coupled receptor trafficking by affecting ER cargo capacity
	role of REEP1 in lipid droplet biology
	conserved role of REEP1 in promoting stress resistance and preventing the formation of Tau aggregates
	facilitates ER-mitochondria interactions, a function diminished by disease-associated mutations

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

sensory transduction/olfaction

a component

INTERACTION

DNA

RNA

small molecule

protein	interacts with odorant receptor proteins
	with ATL1 and SPAST, interact within the tubular ER membrane in corticospinal neurons to coordinate ER shaping and microtubule dynamics
	ZFYVE27 interact with other hereditary spastic paraplegia-related proteins including myelin proteolipid protein 1 (SPG2), atlastin-1 (SPG3A), REEP1, REEP5 (similar to REEP1), KIF5A, KIF5B, KIF5C
	VIMP can interact with CKAP4 and SNX5, it does not interact with MT-binding ER proteins (such as REEP1) that shape the tubular smooth ER

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

SPG31 , DHMN5B

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS