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FLASH GENE

Symbol

RILPL1

contributors: mct - updated : 23-03-2022

HGNC name	Rab interacting lysosomal protein-like 1
HGNC id	26814

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	OPDM4 oculopharyngodistal myopathy 4
Location	12q24.31      Physical location : 123.955.908 - 124.018.265
Synonym name	RILP-like protein 1
	GAPDH competitor of SIAH1 protein enhances life
Synonym symbol(s)	FLJ39378, GOSPEL, MGC105128, MGC99793, RLP1, OPDM4

DNA

TYPE	functioning gene
STRUCTURE	63.67 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_178314 7 - 3933 NP_847884 52 403 - 2019 31428781 NM_001319243 8 - 4021 NP_001306172 - 386 - 2019 31428781 NM_001319302 8 - 4431 NP_001306231 - 252 - 2019 31428781 NM_001319244 7 - 3481 NP_001306173 - 252 - 2019 31428781

EXPRESSION

Type

expressed in	(based on citations)
organ(s)

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

Homologene

FAMILY

CATEGORY

regulatory

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytosolic
	intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
	intracellular,nucleus,nucleoplasm
text	RILPL1 and RILPL2 both localize to the primary cilium and centrosome, RILPL1 specifically to the distal end of the mother centriole (pMID: 23264467)
	is predominantly localized in the cytoplasm
	RILPL1 localizes to a pericentriolar compartment adjacent to the mother centriole

basic FUNCTION	may physiologically regulate the viability of neurons and other cells
	participate in the regulation of ciliary membrane content by promoting protein removal from the primary cilium
	RILPL1 and RILPL2 regulate protein localization in the primary cilium
	RILPL1 and RILPL2 function in regulation of ciliary membrane protein concentration by promoting protein removal from the primary cilium

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	binds GAPDH, in competition with SIAH1, retaining GAPDH in the cytosol and preventing its nuclear translocation (
	NPM1 did not compete with RILPL1 for GAPDH binding in the cytoplasm, although a small amount of NPM1 protein was able to reside in the cytoplasm
	loss of RILPL1 abolishes the LRRK2-mediated deficits in centrosome cohesion
	RAB12 interacts with RILP, RILPL1 and RILPL2 independently of each other

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

OPDM4

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS