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{{Infobox_gene}}
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'''Protein CLN8''' is a [[protein]] that in humans is encoded by the ''CLN8'' [[gene]].<ref name="pmid10508524">{{cite journal | vauthors = Ranta S, Zhang Y, Ross B, Lonka L, Takkunen E, Messer A, Sharp J, Wheeler R, Kusumi K, Mole S, Liu W, Soares MB, Bonaldo MF, Hirvasniemi A, de la Chapelle A, Gilliam TC, Lehesjoki AE | title = The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8 | journal = Nat Genet | volume = 23 | issue = 2 | pages = 233–6 |date=Oct 1999 | pmid = 10508524 | pmc =  | doi = 10.1038/13868 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: CLN8 ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2055| accessdate = }}</ref>
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| require_manual_inspection = no
==Molecular biology==
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This gene encodes a transmembrane protein that localizes to the [[endoplasmic reticulum]] (ER) and recycles between the ER and the [[Golgi apparatus]] via [[COPII]]- and [[COPI]]-coated vesicles.<ref name="di Ronza, A. 2018">{{cite journal | vauthors = di Ronza A, Bajaj L, Sharma J, Sanagasetti D, Lotfi P, Adamski CJ, Collette J, Palmieri M, Amawi A, Popp L, Chang KT, Meschini MC, Leung HE, Segatori L, Simonati A, Sifers RN, Santorelli FM, Sardiello M | year = 2018 | title = CLN8 is an endoplasmic reticulum cargo receptor that regulates lysosome biogenesis | url = https://www.nature.com/articles/s41556-018-0228-7| journal = Nature Cell Biology | volume = | issue = | pages = | doi=10.1038/s41556-018-0228-7| pmid = 30397314 | pmc = }}</ref> CLN8 protein functions as a cargo receptor for lysosomal soluble proteins in the ER.<ref name="di Ronza, A. 2018">{{cite journal | vauthors = di Ronza A, Bajaj L, Sharma J, Sanagasetti D, Lotfi P, Adamski CJ, Collette J, Palmieri M, Amawi A, Popp L, Chang KT, Meschini MC, Leung HE, Segatori L, Simonati A, Sifers RN, Santorelli FM, Sardiello M | year = 2018 | title = CLN8 is an endoplasmic reticulum cargo receptor that regulates lysosome biogenesis | url = https://www.nature.com/articles/s41556-018-0228-7| journal = Nature Cell Biology | volume = | issue = | pages = | doi=10.1038/s41556-018-0228-7| pmid = 30397314 | pmc = }}</ref> 
| update_citations = yes
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==Clinical==
{{GNF_Protein_box
| image =
| image_source =
| PDB =  
| Name = Ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
| HGNCid = 2079
| Symbol = CLN8
| AltSymbols =; EPMR
| OMIM = 607837
| ECnumber = 
| Homologene = 10340
| MGIid = 1349447
| Function =
| Component = {{GNF_GO|id=GO:0005783 |text = endoplasmic reticulum}} {{GNF_GO|id=GO:0005793 |text = ER-Golgi intermediate compartment}} {{GNF_GO|id=GO:0016020 |text = membrane}} {{GNF_GO|id=GO:0016021 |text = integral to membrane}}
| Process = {{GNF_GO|id=GO:0006644 |text = phospholipid metabolic process}} {{GNF_GO|id=GO:0006869 |text = lipid transport}} {{GNF_GO|id=GO:0007399 |text = nervous system development}} {{GNF_GO|id=GO:0008203 |text = cholesterol metabolic process}} {{GNF_GO|id=GO:0008610 |text = lipid biosynthetic process}} {{GNF_GO|id=GO:0030163 |text = protein catabolic process}} {{GNF_GO|id=GO:0045861 |text = negative regulation of proteolysis}} {{GNF_GO|id=GO:0046513 |text = ceramide biosynthetic process}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 2055
    | Hs_Ensembl = 
    | Hs_RefseqProtein = NP_061764
    | Hs_RefseqmRNA = NM_018941
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 
    | Hs_GenLoc_start = 
    | Hs_GenLoc_end = 
    | Hs_Uniprot = 
    | Mm_EntrezGene = 26889
    | Mm_Ensembl = ENSMUSG00000026317
    | Mm_RefseqmRNA = NM_012000
    | Mm_RefseqProtein = NP_036130
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 8
    | Mm_GenLoc_start = 14888868
    | Mm_GenLoc_end = 14900339
    | Mm_Uniprot = Q542J5
  }}
}}
'''Ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)''', also known as '''CLN8''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: CLN8 ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2055| accessdate = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
Mutations in this gene are associated with [[progressive epilepsy with mental retardation]] (EPMR), a subtype of [[neuronal ceroid lipofuscinosis]] (NCL). Patients with mutations in this gene have altered levels of [[sphingolipid]] and [[phospholipid]]s in the [[brain]].
{{PBB_Summary
| section_title =
| summary_text = This gene encodes a transmembrane protein belonging to a family of proteins containing TLC domains, which are postulated to function in lipid synthesis, transport, or sensing. The protein localizes to the endoplasmic reticulum (ER), and may recycle between the ER and ER-Golgi intermediate compartment. Mutations in this gene are associated with progressive epilepsy with mental retardation (EMPR), which is a subtype of neuronal ceroid lipofuscinoses (NCL). Patients with mutations in this gene have altered levels of sphingolipid and phospholipids in the brain.<ref name="entrez">{{cite web | title = Entrez Gene: CLN8 ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2055| accessdate = }}</ref>
}}


==References==
==References==
{{reflist|2}}
{{Reflist}}
 
==External links==
* [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=ncl  GeneReviews/NIH/NCBI/UW entry on Neuronal Ceroid-Lipofuscinoses]
* {{UCSC gene info|CLN8}}
 
==Further reading==
==Further reading==
{{refbegin | 2}}
{{Refbegin|2}}
{{PBB_Further_reading  
{{PBB_Further_reading
| citations =  
| citations =
*{{cite journal  | author=Dawson G, Cho S |title=Batten's disease: clues to neuronal protein catabolism in lysosomes. |journal=J. Neurosci. Res. |volume=60 |issue= 2 |pages= 133-40 |year= 2000 |pmid= 10740217 |doi=  }}
*{{Cite journal  | vauthors=Dawson G, Cho S |title=Batten's disease: clues to neuronal protein catabolism in lysosomes. |journal=J. Neurosci. Res. |volume=60 |issue= 2 |pages= 133–40 |year= 2000 |pmid= 10740217 |doi=10.1002/(SICI)1097-4547(20000415)60:2<133::AID-JNR1>3.0.CO;2-3 }}
*{{cite journal  | author=Ranta S, Lehesjoki AE |title=Northern epilepsy, a new member of the NCL family. |journal=Neurol. Sci. |volume=21 |issue= 3 Suppl |pages= S43-7 |year= 2001 |pmid= 11073227 |doi=  }}
*{{Cite journal  | vauthors=Ranta S, Lehesjoki AE |title=Northern epilepsy, a new member of the NCL family. |journal=Neurol. Sci. |volume=21 |issue= 3 Suppl |pages= S43–7 |year= 2001 |pmid= 11073227 |doi=10.1007/s100720070039 }}
*{{cite journal  | author=Winter E, Ponting CP |title=TRAM, LAG1 and CLN8: members of a novel family of lipid-sensing domains? |journal=Trends Biochem. Sci. |volume=27 |issue= 8 |pages= 381-3 |year= 2002 |pmid= 12151215 |doi=  }}
*{{Cite journal  | vauthors=Winter E, Ponting CP |title=TRAM, LAG1 and CLN8: members of a novel family of lipid-sensing domains? |journal=Trends Biochem. Sci. |volume=27 |issue= 8 |pages= 381–3 |year= 2002 |pmid= 12151215 |doi=10.1016/S0968-0004(02)02154-0 }}
*{{cite journal  | author=Ranta S, Lehesjoki AE, Hirvasniemi A, ''et al.'' |title=Genetic and physical mapping of the progressive epilepsy with mental retardation (EPMR) locus on chromosome 8p. |journal=Genome Res. |volume=6 |issue= 5 |pages= 351-60 |year= 1996 |pmid= 8743986 |doi=  }}
*{{Cite journal  | author=Ranta S |title=Genetic and physical mapping of the progressive epilepsy with mental retardation (EPMR) locus on chromosome 8p |journal=Genome Res. |volume=6 |issue= 5 |pages= 351–60 |year= 1996 |pmid= 8743986 |doi=10.1101/gr.6.5.351 |name-list-format=vanc| author2=Lehesjoki AE  | author3=Hirvasniemi A  | display-authors=3  | last4=Weissenbach | first4=J  | last5=Ross  | first5=B  | last6=Leal  | first6=S M  | last7=De La Chapelle  | first7=A  | last8=Gilliam  | first8=T C  }}
*{{cite journal | author=Ranta S, Zhang Y, Ross B, ''et al.'' |title=The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8. |journal=Nat. Genet. |volume=23 |issue= 2 |pages= 233-6 |year= 1999 |pmid= 10508524 |doi= 10.1038/13868 }}
*{{Cite journal  | author=Lonka L |title=The neuronal ceroid lipofuscinosis CLN8 membrane protein is a resident of the endoplasmic reticulum |journal=Hum. Mol. Genet. |volume=9 |issue= 11 |pages= 1691–7 |year= 2000 |pmid= 10861296 |doi=10.1093/hmg/9.11.1691  |name-list-format=vanc| author2=Kyttälä A  | author3=Ranta S  | display-authors=3  | last4=Jalanko  | first4=A  | last5=Lehesjoki  | first5=AE }}
*{{cite journal  | author=Lonka L, Kyttälä A, Ranta S, ''et al.'' |title=The neuronal ceroid lipofuscinosis CLN8 membrane protein is a resident of the endoplasmic reticulum. |journal=Hum. Mol. Genet. |volume=9 |issue= 11 |pages= 1691-7 |year= 2000 |pmid= 10861296 |doi=  }}
*{{Cite journal  | author=Strausberg RL |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241  |name-list-format=vanc| author2=Feingold EA  | author3=Grouse LH  | display-authors=3  | last4=Derge  | first4=JG  | last5=Klausner  | first5=RD  | last6=Collins  | first6=FS  | last7=Wagner  | first7=L  | last8=Shenmen  | first8=CM  | last9=Schuler  | first9=GD }}
*{{cite journal  | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
*{{Cite journal  | author=Verhoeven K |title=Slowed Conduction and Thin Myelination of Peripheral Nerves Associated with Mutant Rho Guanine-Nucleotide Exchange Factor 10 |journal=Am. J. Hum. Genet. |volume=73 |issue= 4 |pages= 926–32 |year= 2003 |pmid= 14508709 |doi= 10.1086/378159 | pmc=1180612  |name-list-format=vanc| author2=De Jonghe P  | author3=Van de Putte T  | display-authors=3  | last4=Nelis  | first4=Eva  | last5=Zwijsen  | first5=An  | last6=Verpoorten  | first6=Nathalie  | last7=De Vriendt  | first7=Els  | last8=Jacobs  | first8=An  | last9=Van Gerwen  | first9=Veerle }}
*{{cite journal  | author=Verhoeven K, De Jonghe P, Van de Putte T, ''et al.'' |title=Slowed conduction and thin myelination of peripheral nerves associated with mutant rho Guanine-nucleotide exchange factor 10. |journal=Am. J. Hum. Genet. |volume=73 |issue= 4 |pages= 926-32 |year= 2003 |pmid= 14508709 |doi= 10.1086/378159 }}
*{{Cite journal  | author=Ota T |title=Complete sequencing and characterization of 21,243 full-length human cDNAs |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 |name-list-format=vanc| author2=Suzuki Y  | author3=Nishikawa T  | display-authors=3  | last4=Otsuki  | first4=Tetsuji  | last5=Sugiyama  | first5=Tomoyasu  | last6=Irie  | first6=Ryotaro  | last7=Wakamatsu  | first7=Ai  | last8=Hayashi  | first8=Koji  | last9=Sato  | first9=Hiroyuki }}
*{{cite journal  | author=Ota T, Suzuki Y, Nishikawa T, ''et al.'' |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40-5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }}
*{{Cite journal  | author=Ranta S |title=Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy |journal=Hum. Mutat. |volume=23 |issue= 4 |pages= 300–5 |year= 2004 |pmid= 15024724 |doi= 10.1002/humu.20018 |name-list-format=vanc| author2=Topcu M  | author3=Tegelberg S  | display-authors=3  | last4=Tan  | first4=Hüseyin  | last5=Üstübütün  | first5=Alp  | last6=Saatci  | first6=Isil  | last7=Dufke  | first7=Andreas  | last8=Enders  | first8=Herbert  | last9=Pohl  | first9=Keith }}
*{{cite journal  | author=Ranta S, Topcu M, Tegelberg S, ''et al.'' |title=Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy. |journal=Hum. Mutat. |volume=23 |issue= 4 |pages= 300-5 |year= 2004 |pmid= 15024724 |doi= 10.1002/humu.20018 }}
*{{Cite journal  | author=Gerhard DS |title=The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC) |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 | pmc=528928  |name-list-format=vanc| author2=Wagner L  | author3=Feingold EA  | display-authors=3  | last4=Shenmen  | first4=CM  | last5=Grouse  | first5=LH  | last6=Schuler  | first6=G  | last7=Klein  | first7=SL  | last8=Old  | first8=S  | last9=Rasooly  | first9=R }}
*{{cite journal  | author=Gerhard DS, Wagner L, Feingold EA, ''et al.'' |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121-7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 }}
*{{Cite journal  | author=Hermansson M |title=Mass spectrometric analysis reveals changes in phospholipid, neutral sphingolipid and sulfatide molecular species in progressive epilepsy with mental retardation, EPMR, brain: a case study |journal=J. Neurochem. |volume=95 |issue= 3 |pages= 609–17 |year= 2005 |pmid= 16086686 |doi= 10.1111/j.1471-4159.2005.03376.x |name-list-format=vanc| author2=Käkelä R  | author3=Berghäll M  | display-authors=3  | last4=Lehesjoki  | first4=Anna-Elina  | last5=Somerharju  | first5=Pentti  | last6=Lahtinen  | first6=Ulla }}
*{{cite journal  | author=Hermansson M, Käkelä R, Berghäll M, ''et al.'' |title=Mass spectrometric analysis reveals changes in phospholipid, neutral sphingolipid and sulfatide molecular species in progressive epilepsy with mental retardation, EPMR, brain: a case study. |journal=J. Neurochem. |volume=95 |issue= 3 |pages= 609-17 |year= 2005 |pmid= 16086686 |doi= 10.1111/j.1471-4159.2005.03376.x }}
*{{Cite journal  | author=Kimura K |title=Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes |journal=Genome Res. |volume=16 |issue= 1 |pages= 55–65 |year= 2006 |pmid= 16344560 |doi= 10.1101/gr.4039406 | pmc=1356129  |name-list-format=vanc| author2=Wakamatsu A  | author3=Suzuki Y  | display-authors=3  | last4=Ota  | first4=T  | last5=Nishikawa  | first5=T  | last6=Yamashita  | first6=R  | last7=Yamamoto  | first7=J  | last8=Sekine  | first8=M  | last9=Tsuritani  | first9=K }}
*{{cite journal  | author=Kimura K, Wakamatsu A, Suzuki Y, ''et al.'' |title=Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. |journal=Genome Res. |volume=16 |issue= 1 |pages= 55-65 |year= 2006 |pmid= 16344560 |doi= 10.1101/gr.4039406 }}
}}
}}
{{refend}}
{{Refend}}
 
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{{Glycolipid/sphingolipid metabolism enzymes}}
 


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Latest revision as of 08:43, 10 January 2019

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

Protein CLN8 is a protein that in humans is encoded by the CLN8 gene.[1][2]

Molecular biology

This gene encodes a transmembrane protein that localizes to the endoplasmic reticulum (ER) and recycles between the ER and the Golgi apparatus via COPII- and COPI-coated vesicles.[3] CLN8 protein functions as a cargo receptor for lysosomal soluble proteins in the ER.[3]

Clinical

Mutations in this gene are associated with progressive epilepsy with mental retardation (EPMR), a subtype of neuronal ceroid lipofuscinosis (NCL). Patients with mutations in this gene have altered levels of sphingolipid and phospholipids in the brain.

References

  1. ↑ Ranta S, Zhang Y, Ross B, Lonka L, Takkunen E, Messer A, Sharp J, Wheeler R, Kusumi K, Mole S, Liu W, Soares MB, Bonaldo MF, Hirvasniemi A, de la Chapelle A, Gilliam TC, Lehesjoki AE (Oct 1999). "The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8". Nat Genet. 23 (2): 233–6. doi:10.1038/13868. PMID 10508524.
  2. ↑ "Entrez Gene: CLN8 ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)".
  3. ↑ 3.0 3.1 di Ronza A, Bajaj L, Sharma J, Sanagasetti D, Lotfi P, Adamski CJ, Collette J, Palmieri M, Amawi A, Popp L, Chang KT, Meschini MC, Leung HE, Segatori L, Simonati A, Sifers RN, Santorelli FM, Sardiello M (2018). "CLN8 is an endoplasmic reticulum cargo receptor that regulates lysosome biogenesis". Nature Cell Biology. doi:10.1038/s41556-018-0228-7. PMID 30397314.

External links

Further reading



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