CLN8_MOUSE
ID CLN8_MOUSE Reviewed; 288 AA.
AC Q9QUK3;
DT 02-MAY-2002, integrated into UniProtKB/Swiss-Prot.
DT 01-MAY-2000, sequence version 1.
DT 03-AUG-2022, entry version 145.
DE RecName: Full=Protein CLN8;
GN Name=Cln8;
OS Mus musculus (Mouse).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae;
OC Murinae; Mus; Mus.
OX NCBI_TaxID=10090;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA], AND INVOLVEMENT IN MND.
RX PubMed=10508524; DOI=10.1038/13868;
RA Ranta S., Zhang Y., Ross B., Lonka L., Takkunen E., Messer A., Sharp J.,
RA Wheeler R., Kusumi K., Mole S., Liu W., Soares M.B., Bonaldo M.F.,
RA Hirvasniemi A., de la Chapelle A., Gilliam T.C., Lehesjoki A.-E.;
RT "The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are
RT associated with mutations in CLN8.";
RL Nat. Genet. 23:233-236(1999).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Salivary gland;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [3]
RP INTERACTION WITH CLN5, AND SUBCELLULAR LOCATION.
RX PubMed=19941651; DOI=10.1186/1471-2121-10-83;
RA Lyly A., von Schantz C., Heine C., Schmiedt M.L., Sipilae T., Jalanko A.,
RA Kyttaelae A.;
RT "Novel interactions of CLN5 support molecular networking between neuronal
RT ceroid lipofuscinosis proteins.";
RL BMC Cell Biol. 10:83-83(2009).
CC -!- FUNCTION: Could play a role in cell proliferation during neuronal
CC differentiation and in protection against cell death.
CC {ECO:0000250|UniProtKB:Q9UBY8}.
CC -!- SUBUNIT: Interacts with CLN5 (PubMed:19941651). Interacts with CLN3 (By
CC similarity). {ECO:0000250|UniProtKB:Q9UBY8,
CC ECO:0000269|PubMed:19941651}.
CC -!- SUBCELLULAR LOCATION: Endoplasmic reticulum membrane
CC {ECO:0000250|UniProtKB:Q9UBY8}; Multi-pass membrane protein
CC {ECO:0000255}. Endoplasmic reticulum-Golgi intermediate compartment
CC membrane {ECO:0000250|UniProtKB:Q9UBY8}; Multi-pass membrane protein
CC {ECO:0000255}. Endoplasmic reticulum {ECO:0000269|PubMed:19941651}.
CC -!- DISEASE: Note=Defects in Cln8 are the cause of the phenotype motor
CC neuron degeneration (mnd). Mnd is a naturally occurring mutant It is
CC characterized by progressive motor system degeneration. It has
CC intracellular autofluorescent inclusions similar to those seen in human
CC Cln8. {ECO:0000269|PubMed:10508524}.
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; AF125308; AAF04462.1; -; mRNA.
DR EMBL; AF125307; AAF04461.1; -; mRNA.
DR EMBL; BC021625; AAH21625.1; -; mRNA.
DR CCDS; CCDS40239.1; -.
DR RefSeq; NP_036130.1; NM_012000.3.
DR RefSeq; XP_006508869.1; XM_006508806.3.
DR RefSeq; XP_006508870.1; XM_006508807.2.
DR AlphaFoldDB; Q9QUK3; -.
DR STRING; 10090.ENSMUSP00000027554; -.
DR iPTMnet; Q9QUK3; -.
DR PhosphoSitePlus; Q9QUK3; -.
DR MaxQB; Q9QUK3; -.
DR PaxDb; Q9QUK3; -.
DR PRIDE; Q9QUK3; -.
DR ProteomicsDB; 283528; -.
DR Antibodypedia; 21957; 148 antibodies from 24 providers.
DR DNASU; 26889; -.
DR Ensembl; ENSMUST00000027554; ENSMUSP00000027554; ENSMUSG00000026317.
DR GeneID; 26889; -.
DR KEGG; mmu:26889; -.
DR UCSC; uc009kze.1; mouse.
DR CTD; 2055; -.
DR MGI; MGI:1349447; Cln8.
DR VEuPathDB; HostDB:ENSMUSG00000026317; -.
DR eggNOG; KOG4561; Eukaryota.
DR GeneTree; ENSGT01010000222313; -.
DR HOGENOM; CLU_951678_0_0_1; -.
DR InParanoid; Q9QUK3; -.
DR OMA; FFRTFDL; -.
DR OrthoDB; 1354968at2759; -.
DR PhylomeDB; Q9QUK3; -.
DR TreeFam; TF331146; -.
DR BioGRID-ORCS; 26889; 3 hits in 71 CRISPR screens.
DR ChiTaRS; Cln8; mouse.
DR PRO; PR:Q9QUK3; -.
DR Proteomes; UP000000589; Chromosome 8.
DR RNAct; Q9QUK3; protein.
DR Bgee; ENSMUSG00000026317; Expressed in lip and 242 other tissues.
DR ExpressionAtlas; Q9QUK3; baseline and differential.
DR Genevisible; Q9QUK3; MM.
DR GO; GO:0005783; C:endoplasmic reticulum; IDA:UniProtKB.
DR GO; GO:0005789; C:endoplasmic reticulum membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0005793; C:endoplasmic reticulum-Golgi intermediate compartment; ISS:UniProtKB.
DR GO; GO:0033116; C:endoplasmic reticulum-Golgi intermediate compartment membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0005739; C:mitochondrion; IEA:GOC.
DR GO; GO:0098793; C:presynapse; IEA:GOC.
DR GO; GO:0097001; F:ceramide binding; ISS:UniProtKB.
DR GO; GO:0008344; P:adult locomotory behavior; IMP:MGI.
DR GO; GO:0007628; P:adult walking behavior; IMP:MGI.
DR GO; GO:0001306; P:age-dependent response to oxidative stress; IMP:MGI.
DR GO; GO:0006915; P:apoptotic process; IMP:MGI.
DR GO; GO:0008306; P:associative learning; IMP:MGI.
DR GO; GO:0044265; P:cellular macromolecule catabolic process; IMP:MGI.
DR GO; GO:0006672; P:ceramide metabolic process; ISS:UniProtKB.
DR GO; GO:0008203; P:cholesterol metabolic process; ISS:UniProtKB.
DR GO; GO:0051935; P:glutamate reuptake; IMP:MGI.
DR GO; GO:0055088; P:lipid homeostasis; IBA:GO_Central.
DR GO; GO:0007040; P:lysosome organization; IMP:MGI.
DR GO; GO:0007006; P:mitochondrial membrane organization; IMP:MGI.
DR GO; GO:0050881; P:musculoskeletal movement; IMP:MGI.
DR GO; GO:0043524; P:negative regulation of neuron apoptotic process; IMP:MGI.
DR GO; GO:0007399; P:nervous system development; ISS:UniProtKB.
DR GO; GO:0060052; P:neurofilament cytoskeleton organization; IMP:MGI.
DR GO; GO:0050885; P:neuromuscular process controlling balance; IMP:MGI.
DR GO; GO:0050884; P:neuromuscular process controlling posture; IMP:MGI.
DR GO; GO:0051402; P:neuron apoptotic process; IMP:MGI.
DR GO; GO:0006644; P:phospholipid metabolic process; IMP:MGI.
DR GO; GO:0045494; P:photoreceptor cell maintenance; IMP:MGI.
DR GO; GO:0030163; P:protein catabolic process; IMP:MGI.
DR GO; GO:0019538; P:protein metabolic process; IMP:MGI.
DR GO; GO:0008361; P:regulation of cell size; IMP:MGI.
DR GO; GO:0060041; P:retina development in camera-type eye; IMP:MGI.
DR GO; GO:0097473; P:retinal rod cell apoptotic process; IMP:MGI.
DR GO; GO:0035176; P:social behavior; IMP:MGI.
DR GO; GO:0021523; P:somatic motor neuron differentiation; IMP:MGI.
DR GO; GO:0021522; P:spinal cord motor neuron differentiation; IMP:MGI.
DR GO; GO:0007601; P:visual perception; IMP:MGI.
DR InterPro; IPR006634; TLC-dom.
DR Pfam; PF03798; TRAM_LAG1_CLN8; 1.
DR SMART; SM00724; TLC; 1.
DR PROSITE; PS50922; TLC; 1.
PE 1: Evidence at protein level;
KW Endoplasmic reticulum; Membrane; Neurodegeneration;
KW Neuronal ceroid lipofuscinosis; Reference proteome; Transmembrane;
KW Transmembrane helix.
FT CHAIN 1..288
FT /note="Protein CLN8"
FT /id="PRO_0000185538"
FT TRANSMEM 26..46
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 71..91
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 103..123
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 131..151
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 225..245
FT /note="Helical"
FT /evidence="ECO:0000255"
FT DOMAIN 62..262
FT /note="TLC"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00205"
FT REGION 269..288
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOTIF 285..288
FT /note="ER-retrieval signal"
SQ SEQUENCE 288 AA; 33109 MW; A11225DE3CD7DEA5 CRC64;
MTPVSSHGLA ESIFDLDYAS WKIRSTLAVA GFVFYLGVFV VCHQLSSSLN ATYRSLAAKE
KVFWNLAATR AVFGVQSTTA GLWALLGDPV LYADKALGQQ NWCWFHITTA TGFFFFENVA
VHLSNLFFRT FDLFLVVHHL FAFLGFLGSA INLRAGHYLA MTTLLLEMST PFTCISWMLL
KAGWSDSLFW KANQWLMIHM FHCRMILTYH MWWVCFCHWD ALTSSLHLPH WALFLFGLAL
LTAVINPYWT HKKTQQLLHP VDWNFAQEEA KGSRQERTNG QVPRKKRL
