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FLASH GENE

Symbol

CLN5

contributors: mct - updated : 26-02-2016

HGNC name	ceroid-lipofuscinosis, neuronal 5
HGNC id	2076

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	ATCAD cerebellar ataxia, adulte -onset CLN5 ceroid-lipofuscinosis, neuronal, 5
Location	13q22.3      Physical location : 77.566.058 - 77.576.651
Synonym name	ceroid-lipofuscinosis neuronal protein 5
Synonym symbol(s)	NCL, vLINCL, FLJ90628

DNA

TYPE	functioning gene
STRUCTURE	10.59 kb     4 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	alternative promoter
text structure	three possible alternative promoters

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_006493 4 splicing 2816 NP_006484 - 407 ubiquitous 2012 23160995 variant 1 - - 4080 46.3 407 skeletal muscle 2012 23160995 variant 3 - splicing 2000 - - ubiquitous 2012 23160995

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 vessels aorta     highly Digestive mouth       highly Endocrine pancreas         Hearing/Equilibrium ear inner cochlea   highly Nervous brain         Reproductive male system prostate       Respiratory respiratory tract trachea     highly Urinary kidney       highly

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text	ubiquitous

PROTEIN

PHYSICAL PROPERTIES		fibrous		Hydrophobic
STRUCTURE

motifs/domains	a cytoplasmic N-terminus,
	one TM segment, and
	two hydrophobic segments indicating transmembrane helices
	an intraluminal loop with several modification sites including phosphorylation (protein kinase C, casein kinase II, tyrosine kinase), myristoylation,
	eight potential N-glycosylation sites based on the Asn-X-Thr/Ser consensus sequence
	a large luminal C-terminal domain containing an amphipathic helix (AH)

conjugated

GlycoP

HOMOLOGY

interspecies

homolog to C.elegans Y53G8AL.2

intraspecies

homolog to CLN3

Homologene

FAMILY

CATEGORY

structural protein

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum
	intracellular,cytoplasm,organelle,Golgi
	intracellular,cytoplasm,organelle,lysosome
text	proteolytically cleaved, and the mature polypeptide is transported to the lysosomes

basic FUNCTION	involved in cell growth and/or maintenance
	role for CLN5 in controlling the itinerary of the lysosomal sorting receptors by regulating retromer recruitment at the endosome
	CLN5/CLN8 proteins are more closely related than previously believed

CELLULAR PROCESS	cell life, proliferation/growth

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

constituent of integral lysosomal membrane protein

INTERACTION

DNA

RNA

small molecule

protein	CLN3, CLN6, and CLN8 complement each otherwith respect to growth and apoptosis
	binding of CLN5 to CLN1/PPT1 is suggested to be the most significant one, since over-expression of PPT1 was shown to influence on the intracellular trafficking of mutated CLN5, and they were shown to share a binding partner outside the NCL protein spectrum
	interaction between CLN5 and sortilin, the lysosomal sorting receptor
	CLN5 is initially translated as a type II transmembrane protein and subsequently cleaved by SPPL3, into a mature soluble protein consisting of residues 93-407band the remaining N-terminal fragment is then cleaved by SPPL3 and SPPL2B and degraded in the proteasome

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

CLN5 , ATCAD

related resource

Neuronal Ceroid Lipofuscinoses

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

Cln5-deficiency in mice leads to loss of thalamocortical neurons, and glial activation, leading to defective myelination in the developing mouse brain