Version 5.4
Homo sapiens Protein: MFSD8
Summary
InnateDB Protein IDBP-37598.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol MFSD8
Protein Name major facilitator superfamily domain containing 8
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000296468
InnateDB Gene IDBG-37596 (MFSD8)
Protein Structure
UniProt Annotation
Function May be a carrier that transport small solutes by using chemiosmotic ion gradients. {ECO:0000305}.
Subcellular Localization Lysosome membrane {ECO:0000269PubMed:17564970, ECO:0000269PubMed:17897319, ECO:0000269PubMed:20406422}; Multi-pass membrane protein {ECO:0000269PubMed:17564970, ECO:0000269PubMed:17897319, ECO:0000269PubMed:20406422}. Note=Sorting to lysosomes involves tyrosine- and/or dileucine-based motifs.
Disease Associations 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:0000269PubMed:17564970, ECO:0000269PubMed:18850119, ECO:0000269PubMed:19177532, ECO:0000269PubMed:19201763, ECO:0000269PubMed:21990111}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Expressed at very low levels in all tissues tested. {ECO:0000269PubMed:17564970}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
Gene Ontology

Molecular Function
Accession GO Term
GO:0022857 transmembrane transporter activity
Biological Process
GO:0008219 cell death
GO:0055085 transmembrane transport
Cellular Component
GO:0005634 nucleus
GO:0005764 lysosome
GO:0005765 lysosomal membrane
GO:0016021 integral component of membrane
GO:0043231 intracellular membrane-bounded organelle
Protein Structure and Domains
PDB ID
InterPro IPR005828 General substrate transporter
IPR011701 Major facilitator superfamily
IPR016196 Major facilitator superfamily domain, general substrate transporter
IPR020846 Major facilitator superfamily domain
PFAM PF00083
PF07690
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q8NHS3
PhosphoSite PhosphoSite-Q8NHS3
TrEMBL E7ERQ4
UniProt Splice Variant
Entrez Gene 256471
UniGene Hs.714983
RefSeq NP_689991
HUGO HGNC:28486
OMIM 611124
CCDS CCDS3736
HPRD 14557
IMGT
EMBL AC099340 AK074564 AK315596 BC029503 CH471056
GenPept AAH29503 BAC11062 BAG37968 EAX05195

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca