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FLASH GENE
Symbol CLN5 contributors: mct - updated : 26-02-2016
HGNC name ceroid-lipofuscinosis, neuronal 5
HGNC id 2076
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
Physical map
DACH 13q21-q22 dachshund homolog (Drosophila) FLJ22624 13q21.33 FLJ22624 protein DIS3 13q21.33 FLJ22624 protein PIBF1 13q21.33 progesterone-induced blocking factor 1 LOC338091 13q21 proteasome 26S non-ATPase subunit 10 pseudogene KLF5 13q21.33 Kruppel-like factor 5 (intestinal) LOC387934 13 similar to Fatty acid-binding protein, epidermal (E-FABP) (Psoriasis-associated fatty acid-binding protein homolog) (PA-FABP) LOC122134 13q21.33 similar to MAP/microtubule affinity-regulating kinase 3 LOC387935 13 LOC387935 KLF12 13q22 Kruppel-like factor 12 LOC122145 13q21.33 suppressor of bimD6 homolog pseudogene LOC387936 13 hypothetical gene supported by AL133018 LOC387937 13 LOC387937 TBC1D4 13q22 TBC1 domain family, member 4 AK000009  Acrg embryonic lethality (mouse) minimal region ortholog UCHL3 13q22 ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase) LMO7 13q22 LIM domain only 7 KCTD12 13q21 potassium channel tetramerisation domain containing 12 BTF3L1 13q22 basic transcription factor 3, like 1 LOC341720 13q22.1 similar to immune-responsive gene 1 LOC390413 13 similar to 60S ribosomal protein L7 DHX9P 13q21 DEAH (Asp-Glu-Ala-His) box polypeptide 9 pseudogene CLN5 13q22 ceroid-lipofuscinosis, neuronal 5 FBXL3A 13q22 F-box and leucine-rich repeat protein 3A PAM 5q15 peptidylglycine alpha-amidating monooxygenase SCEL 13q22 sciellin LOC390414 13 similar to chromosome 15 open reading frame 2 FLJ30046 13q22.1 hypothetical protein FLJ30046 EDNRB 13q22 endothelin receptor type B POU4F1 13q21.1-q22 POU domain, class 4, transcription factor 1 C13orf7 13q22.2 chromosome 13 open reading frame 7 LOC341732 13q22.2 similar to 60 kDa heat shock protein, mitochondrial precursor (Hsp60) (60 kDa chaperonin) (CPN60) (Heat shock protein 60) (HSP-60) (Mitochondrial matrix protein P1) (P60 lymphocyte protein) (HuCHA60) LOC390415 13 similar to T-complex protein 1, epsilon subunit (TCP-1-epsilon) (CCT-epsilon) C13orf10 13q22.1 chromosome 13 open reading frame 10 NDFIP2 13q22.1 Nedd4 family interacting protein 2 SPRY2 13q31-q32 sprouty homolog 2 (Drosophila) LOC150928 13q22.3 hypothetical LOC150928
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
4 splicing 2816 - 407 ubiquitous 2012 23160995
- - 4080 46.3 407 skeletal muscle 2012 23160995
- splicing 2000 - - ubiquitous 2012 23160995
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularvesselsaorta  highly
Digestivemouth   highly
Endocrinepancreas    
Hearing/Equilibriumearinnercochlea highly
Nervousbrain    
Reproductivemale systemprostate   
Respiratoryrespiratory tracttrachea  highly
Urinarykidney   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