MFSD8
entrez
256471
canonical
uniprot
Q8NHS3
canonical
ensembl
ENSG00000164073
resolver
ensp
ENSP00000296468
resolver
ensp
ENSP00000425000
resolver
ensp
ENSP00000492885
resolver
ensp
ENSP00000492925
resolver
ensp
ENSP00000492966
resolver
ensp
ENSP00000492987
resolver
ensp
ENSP00000492989
resolver
ensp
ENSP00000493044
resolver
ensp
ENSP00000493056
resolver
ensp
ENSP00000493083
resolver
ensp
ENSP00000493132
resolver
ensp
ENSP00000493133
resolver
ensp
ENSP00000493194
resolver
ensp
ENSP00000493197
resolver
ensp
ENSP00000493218
resolver
ensp
ENSP00000493260
resolver
ensp
ENSP00000493277
resolver
ensp
ENSP00000493285
resolver
ensp
ENSP00000493315
resolver
ensp
ENSP00000493346
resolver
ensp
ENSP00000493347
resolver
ensp
ENSP00000493392
resolver
ensp
ENSP00000493397
resolver
ensp
ENSP00000493459
resolver
enst
ENST00000513559
resolver
enst
ENST00000515130
resolver
enst
ENST00000641025
resolver
enst
ENST00000641092
resolver
enst
ENST00000641134
resolver
enst
ENST00000641147
resolver
enst
ENST00000641178
resolver
enst
ENST00000641186
resolver
enst
ENST00000641228
resolver
enst
ENST00000641243
resolver
enst
ENST00000641332
resolver
enst
ENST00000641393
resolver
enst
ENST00000641482
resolver
enst
ENST00000641509
resolver
enst
ENST00000641590
resolver
enst
ENST00000641658
resolver
enst
ENST00000641690
resolver
enst
ENST00000641742
resolver
enst
ENST00000641870
resolver
enst
ENST00000642034
resolver
enst
ENST00000642078
resolver
genesymbol
MFSD8
resolver
genesymbol_syn
CLN7
resolver
hgnc
HGNC:28486
resolver
uniprot
A0A286YEW8
resolver
uniprot
A0A286YEX1
resolver
uniprot
A0A286YF20
resolver
uniprot
A0A286YF45
resolver
uniprot
A0A286YF72
resolver
uniprot
A0A286YF73
resolver
uniprot
A0A286YFB5
resolver
uniprot
A0A286YFC6
resolver
uniprot
A0A286YFF1
resolver
uniprot
A0A286YFI8
resolver
uniprot
A0A286YFM2
resolver
uniprot
B2RDM1
resolver
uniprot
B7Z205
resolver
uniprot
B7Z2B2
resolver
uniprot
E7ERQ4
resolver
uniprot
Q8N2P3
resolver
uniprot_entry
A0A286YEW8_HUMAN
resolver
uniprot_entry
A0A286YEX1_HUMAN
resolver
uniprot_entry
A0A286YF20_HUMAN
resolver
uniprot_entry
A0A286YF45_HUMAN
resolver
uniprot_entry
A0A286YF72_HUMAN
resolver
uniprot_entry
A0A286YF73_HUMAN
resolver
uniprot_entry
A0A286YFB5_HUMAN
resolver
uniprot_entry
A0A286YFC6_HUMAN
resolver
uniprot_entry
A0A286YFF1_HUMAN
resolver
uniprot_entry
A0A286YFI8_HUMAN
resolver
uniprot_entry
A0A286YFM2_HUMAN
resolver
uniprot_entry
B7Z2B2_HUMAN
resolver
uniprot_entry
E7ERQ4_HUMAN
resolver
uniprot_entry
MFSD8_HUMAN
resolver
uniprot_sec
B2RDM1
resolver
uniprot_sec
B7Z205
resolver
uniprot_sec
Q8N2P3
resolver
activity_regulation
ACTIVITY REGULATION: Inhibited by chloride channel blockers 4,4'-diisothiocyano-2,2'-stilbenedisulfonate (DIDS), niflumic acid (NFA), and 5-Nitro-2-(3-phenylpropylamino) benzoic acid (NPPB). {ECO:0000269|PubMed:34910516}.
uniprot
proteins
amino_acid_sequence
MAGLRNESEQEPLLGDTPGSREWDILETEEHYKSRWRSIRILYLTMFLSSVGFSVVMMSIWPYLQKIDPTADTSFLGWVIASYSLGQMVASPIFGLWSNYRPRKEPLIVSILISVAANCLYAYLHIPASHNKYYMLVARGLLGIGAGNVAVVRSYTAGATSLQERTSSMANISMCQALGFILGPVFQTCFTFLGEKGVTWDVIKLQINMYTTPVLLSAFLGILNIILILAILREHRVDDSGRQCKSINFEEASTDEAQVPQGNIDQVAVVAINVLFFVTLFIFALFETIITPLTMDMYAWTQEQAVLYNGIILAALGVEAVVIFLGVKLLSKKIGERAILLGGLIVVWVGFFILLPWGNQFPKIQWEDLHNNSIPNTTFGEIIIGLWKSPMEDDNERPTGCSIEQAWCLYTPVIHLAQFLTSAVLIGLGYPVCNLMSYTLYSKILGPKPQGVYMGWLTASGSGARILGPMFISQVYAHWGPRWAFSLVCGIIVLTITLLGVVYKRLIALSVRYGRIQE
uniprot
proteins
disease_involvement
DISEASE: Ceroid lipofuscinosis, neuronal, 7 (CLN7) [MIM:610951]: A form of neuronal ceroid lipofuscinosis with onset in early 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 7 comprise mixed combinations of granular, curvilinear, fingerprint, and rectilinear profiles. {ECO:0000269|PubMed:17564970, ECO:0000269|PubMed:18850119, ECO:0000269|PubMed:19177532, ECO:0000269|PubMed:19201763, ECO:0000269|PubMed:19277732, ECO:0000269|PubMed:21990111, ECO:0000269|PubMed:22612257, ECO:0000269|PubMed:34910516}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Macular dystrophy with central cone involvement (CCMD) [MIM:616170]: An ocular disease characterized by decreased visual acuity, slight pigmentary changes and color vision abnormalities, becoming apparent in the third to sixth decade of life. Fundus anomalies are variable and include bull's eye maculopathy, severe atrophy of central fovea, relatively spared fovea with surrounding atrophic ring, central retinal pigment epithelium and/or choroid changes, pale or atrophic peripapillary area, pale optic disk, relatively spared periphery, and slightly or moderately attenuated vessels. {ECO:0000269|PubMed:25227500}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Outward-rectifying chloride channel involved in endolysosomal chloride homeostasis, membrane fusion and function. Conducts chloride currents up to hundreds of picoamperes. Regulates lysosomal calcium content by reducing the lysosomal membrane potential, thereby activating TRPML1 channel and further release of lysosomal calcium ions. Regulates the pH in endolysosomal compartments and may contribute to progressive acidification from endosome to lysosome. Permeable to other halides such as iodide and fluoride ions. {ECO:0000269|PubMed:34910516}.
uniprot
proteins
mass_dalton
57628
uniprot
proteins
mutagenesis
MUTAGEN 13..14; /note="LL->A: Mistargeted to the plasma membrane."; /evidence="ECO:0000269|PubMed:34910516"; MUTAGEN 153; /note="R->A: Decreased chloride channel activity."; /evidence="ECO:0000269|PubMed:34910516"; MUTAGEN 287; /note="E->A: Decreased chloride channel activity."; /evidence="ECO:0000269|PubMed:34910516"; MUTAGEN 438; /note="Y->A: Decreased chloride channel activity."; /evidence="ECO:0000269|PubMed:34910516
uniprot
proteins
protein_family
Major facilitator superfamily
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
17564970
uniprot
proteins
pubmed
17897319
uniprot
proteins
pubmed
18850119
uniprot
proteins
pubmed
19177532
uniprot
proteins
pubmed
19201763
uniprot
proteins
pubmed
19277732
uniprot
proteins
pubmed
20406422
uniprot
proteins
pubmed
21990111
uniprot
proteins
pubmed
22612257
uniprot
proteins
pubmed
25227500
uniprot
proteins
pubmed
34910516
uniprot
proteins
sequence_length
518
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endosome membrane {ECO:0000269|PubMed:34910516}; Multi-pass membrane protein {ECO:0000255}. Lysosome membrane {ECO:0000269|PubMed:17564970, ECO:0000269|PubMed:17897319, ECO:0000269|PubMed:20406422, ECO:0000269|PubMed:34910516}; Multi-pass membrane protein {ECO:0000255}. Note=Sorting to lysosomes involves dileucine-based motif.
uniprot
proteins
transmembrane_region
TRANSMEM 41..61; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 75..95; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 106..126; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 132..152; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 174..194; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 212..232; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 267..287; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 305..325; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 338..358; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 413..433; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 452..472; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 483..503; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins