CLN8
entrez
2055
canonical
uniprot
Q9UBY8
canonical
ensembl
ENSG00000182372
resolver
ensembl
ENSG00000278220
resolver
ensp
ENSP00000328182
resolver
ensp
ENSP00000482713
resolver
ensp
ENSP00000489694
resolver
ensp
ENSP00000490016
resolver
ensp
ENSP00000490235
resolver
ensp
ENSP00000490439
resolver
ensp
ENSP00000490458
resolver
ensp
ENSP00000529994
resolver
ensp
ENSP00000529996
resolver
ensp
ENSP00000529997
resolver
ensp
ENSP00000529998
resolver
ensp
ENSP00000529999
resolver
ensp
ENSP00000530000
resolver
ensp
ENSP00000603744
resolver
ensp
ENSP00000603747
resolver
ensp
ENSP00000603748
resolver
ensp
ENSP00000603751
resolver
ensp
ENSP00000635279
resolver
ensp
ENSP00000635280
resolver
ensp
ENSP00000635281
resolver
ensp
ENSP00000794794
resolver
enst
ENST00000331222
resolver
enst
ENST00000519254
resolver
enst
ENST00000619400
resolver
enst
ENST00000635751
resolver
enst
ENST00000635970
resolver
enst
ENST00000637083
resolver
enst
ENST00000637156
resolver
enst
ENST00000859935
resolver
enst
ENST00000859937
resolver
enst
ENST00000859938
resolver
enst
ENST00000859939
resolver
enst
ENST00000859940
resolver
enst
ENST00000859941
resolver
enst
ENST00000933685
resolver
enst
ENST00000933688
resolver
enst
ENST00000933689
resolver
enst
ENST00000933692
resolver
enst
ENST00000965220
resolver
enst
ENST00000965221
resolver
enst
ENST00000965222
resolver
genesymbol
CLN8
resolver
genesymbol_syn
C8orf61
resolver
hgnc
HGNC:2079
resolver
uniprot
Q86U71
resolver
uniprot
Q96I95
resolver
uniprot_entry
CLN8_HUMAN
resolver
uniprot_sec
Q86U71
resolver
uniprot_sec
Q96I95
resolver
amino_acid_sequence
MNPASDGGTSESIFDLDYASWGIRSTLMVAGFVFYLGVFVVCHQLSSSLNATYRSLVAREKVFWDLAATRAVFGVQSTAAGLWALLGDPVLHADKARGQQNWCWFHITTATGFFCFENVAVHLSNLIFRTFDLFLVIHHLFAFLGFLGCLVNLQAGHYLAMTTLLLEMSTPFTCVSWMLLKAGWSESLFWKLNQWLMIHMFHCRMVLTYHMWWVCFWHWDGLVSSLYLPHLTLFLVGLALLTLIINPYWTHKKTQQLLNPVDWNFAQPEAKSRPEGNGQLLRKKRP
uniprot
proteins
disease_involvement
DISEASE: Ceroid lipofuscinosis, neuronal, 8 (CLN8) [MIM:600143]: A form of neuronal ceroid lipofuscinosis with onset in childhood. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. The lipopigment patterns observed most often in neuronal ceroid lipofuscinosis type 8 comprise mixed combinations of granular, curvilinear, and fingerprint profiles. {ECO:0000269|PubMed:15024724, ECO:0000269|PubMed:16570191, ECO:0000269|PubMed:19201763, ECO:0000269|PubMed:19431184, ECO:0000269|PubMed:19807737, ECO:0000269|PubMed:21990111, ECO:0000269|PubMed:26443629}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant (CLN8NE) [MIM:610003]: A form of neuronal ceroid lipofuscinosis clinically characterized by epilepsy that presents between 5 and 10 years of age with frequent tonic-clonic seizures followed by progressive intellectual disability. Visual loss is not a prominent feature. Intracellular accumulation of autofluorescent material results in curvilinear and granular profiles on ultrastructural analysis. {ECO:0000269|PubMed:10508524, ECO:0000269|PubMed:21990111}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Could play a role in cell proliferation during neuronal differentiation and in protection against cell death. {ECO:0000269|PubMed:19431184}.
uniprot
proteins
mass_dalton
32787
uniprot
proteins
mutagenesis
MUTAGEN 283..284; /note="KK->RR: Localizes to the Golgi complex."; /evidence="ECO:0000269|PubMed:10861296
uniprot
proteins
post_translational_modification
PTM: Does not seem to be N-glycosylated.
uniprot
proteins
pubmed
10508524
uniprot
proteins
pubmed
10861296
uniprot
proteins
pubmed
15024724
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16570191
uniprot
proteins
pubmed
17237713
uniprot
proteins
pubmed
19201763
uniprot
proteins
pubmed
19431184
uniprot
proteins
pubmed
19807737
uniprot
proteins
pubmed
19941651
uniprot
proteins
pubmed
21990111
uniprot
proteins
pubmed
26443629
uniprot
proteins
pubmed
27535533
uniprot
proteins
sequence_length
286
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:10861296}; Multi-pass membrane protein {ECO:0000269|PubMed:10861296}. Endoplasmic reticulum-Golgi intermediate compartment membrane {ECO:0000269|PubMed:10861296}; Multi-pass membrane protein {ECO:0000269|PubMed:10861296}. Endoplasmic reticulum {ECO:0000269|PubMed:19941651}.
uniprot
proteins
transmembrane_region
TRANSMEM 21..41; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 62..84; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 103..123; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 131..151; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 226..246; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins