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Q8NHS3 (MFSD8_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 100. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Major facilitator superfamily domain-containing protein 8
Alternative name(s):
Ceroid-lipofuscinosis neuronal protein 7
Gene names
Name:MFSD8
Synonyms:CLN7
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length518 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

May be a carrier that transport small solutes by using chemiosmotic ion gradients Potential.

Subcellular location

Lysosome membrane; Multi-pass membrane protein. Note: Sorting to lysosomes involves tyrosine- and/or dileucine-based motifs. Ref.5 Ref.6 Ref.7

Tissue specificity

Expressed at very low levels in all tissues tested. Ref.7

Involvement in 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.7 Ref.8 Ref.9 Ref.10 Ref.11

Sequence similarities

Belongs to the major facilitator superfamily.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 518518Major facilitator superfamily domain-containing protein 8
PRO_0000311232

Regions

Topological domain1 – 4040Cytoplasmic Potential
Transmembrane41 – 6121Helical; Potential
Topological domain62 – 7413Extracellular Potential
Transmembrane75 – 9521Helical; Potential
Topological domain96 – 10510Cytoplasmic Potential
Transmembrane106 – 12621Helical; Potential
Topological domain127 – 1315Extracellular Potential
Transmembrane132 – 15221Helical; Potential
Topological domain153 – 17321Cytoplasmic Potential
Transmembrane174 – 19421Helical; Potential
Topological domain195 – 21117Extracellular Potential
Transmembrane212 – 23221Helical; Potential
Topological domain233 – 26634Cytoplasmic Potential
Transmembrane267 – 28721Helical; Potential
Topological domain288 – 30417Extracellular Potential
Transmembrane305 – 32521Helical; Potential
Topological domain326 – 33712Cytoplasmic Potential
Transmembrane338 – 35821Helical; Potential
Topological domain359 – 41254Extracellular Potential
Transmembrane413 – 43321Helical; Potential
Topological domain434 – 45118Cytoplasmic Potential
Transmembrane452 – 47221Helical; Potential
Topological domain473 – 48210Extracellular Potential
Transmembrane483 – 50321Helical; Potential
Topological domain504 – 51815Cytoplasmic Potential
Motif13 – 142Dileucine internalization motif

Amino acid modifications

Glycosylation3711N-linked (GlcNAc...) Ref.6
Glycosylation3761N-linked (GlcNAc...) Ref.6

Natural variations

Natural variant521G → R in CLN7. Ref.9
VAR_058427
Natural variant1091V → G.
Corresponds to variant rs11732377 [ dbSNP | Ensembl ].
VAR_037176
Natural variant1211Y → C in CLN7. Ref.10
VAR_058428
Natural variant1391R → H in CLN7. Ref.8
VAR_058429
Natural variant1571A → P in CLN7; due to a deletion-insertion mutation at nucleotide level. Ref.8 Ref.11
VAR_058430
Natural variant1601T → I in CLN7. Ref.11
VAR_066915
Natural variant1601T → N in CLN7. Ref.11
VAR_066916
Natural variant2941T → K in CLN7. Ref.8 Ref.9
VAR_058431
Natural variant3101G → D in CLN7; lysosomal localization. Ref.7 Ref.8 Ref.9
VAR_037177
Natural variant3851G → R.
Corresponds to variant rs11098943 [ dbSNP | Ensembl ].
VAR_037178
Natural variant4231A → V. Ref.1
Corresponds to variant rs3733319 [ dbSNP | Ensembl ].
VAR_037179
Natural variant4291G → D in CLN7; lysosomal localization. Ref.7
VAR_037180
Natural variant4471P → L in CLN7. Ref.9
VAR_058432
Natural variant4581T → K in CLN7. Ref.11
VAR_066917
Natural variant4651R → Q in CLN7. Ref.11
VAR_066918
Natural variant4651R → W in CLN7. Ref.8
VAR_058433
Natural variant4701M → V in CLN7. Ref.11
VAR_066919

Experimental info

Sequence conflict1891C → Y in BAC11062. Ref.1
Sequence conflict4871L → R in BAC11062. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Q8NHS3 [UniParc].

Last modified October 1, 2002. Version 1.
Checksum: 105A5F6A35B2291F

FASTA51857,628
        10         20         30         40         50         60 
MAGLRNESEQ EPLLGDTPGS REWDILETEE HYKSRWRSIR ILYLTMFLSS VGFSVVMMSI 

        70         80         90        100        110        120 
WPYLQKIDPT ADTSFLGWVI ASYSLGQMVA SPIFGLWSNY RPRKEPLIVS ILISVAANCL 

       130        140        150        160        170        180 
YAYLHIPASH NKYYMLVARG LLGIGAGNVA VVRSYTAGAT SLQERTSSMA NISMCQALGF 

       190        200        210        220        230        240 
ILGPVFQTCF TFLGEKGVTW DVIKLQINMY TTPVLLSAFL GILNIILILA ILREHRVDDS 

       250        260        270        280        290        300 
GRQCKSINFE EASTDEAQVP QGNIDQVAVV AINVLFFVTL FIFALFETII TPLTMDMYAW 

       310        320        330        340        350        360 
TQEQAVLYNG IILAALGVEA VVIFLGVKLL SKKIGERAIL LGGLIVVWVG FFILLPWGNQ 

       370        380        390        400        410        420 
FPKIQWEDLH NNSIPNTTFG EIIIGLWKSP MEDDNERPTG CSIEQAWCLY TPVIHLAQFL 

       430        440        450        460        470        480 
TSAVLIGLGY PVCNLMSYTL YSKILGPKPQ GVYMGWLTAS GSGARILGPM FISQVYAHWG 

       490        500        510 
PRWAFSLVCG IIVLTITLLG VVYKRLIALS VRYGRIQE 

« Hide

References

« Hide 'large scale' references
[1]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT VAL-423.
Tissue: Embryo and Placenta.
[2]"Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. expand/collapse author list , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Testis.
[5]"Integral and associated lysosomal membrane proteins."
Schroeder B., Wrocklage C., Pan C., Jaeger R., Koesters B., Schaefer H., Elsaesser H.-P., Mann M., Hasilik A.
Traffic 8:1676-1686(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS].
Tissue: Placenta.
[6]"Lysosomal targeting of the CLN7 membrane glycoprotein and transport via the plasma membrane require a dileucine motif."
Steenhuis P., Herder S., Gelis S., Braulke T., Storch S.
Traffic 11:987-1000(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: GLYCOSYLATION AT ASN-371 AND ASN-376, DILEUCINE MOTIF, SUBCELLULAR LOCATION.
[7]"The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter."
Siintola E., Topcu M., Aula N., Lohi H., Minassian B.A., Paterson A.D., Liu X.-Q., Wilson C., Lahtinen U., Anttonen A.-K., Lehesjoki A.-E.
Am. J. Hum. Genet. 81:136-146(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CLN7 ASP-310 AND ASP-429, CHARACTERIZATION OF VARIANTS CLN7 ASP-310 AND ASP-429, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
[8]"Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis."
Kousi M., Siintola E., Dvorakova L., Vlaskova H., Turnbull J., Topcu M., Yuksel D., Gokben S., Minassian B.A., Elleder M., Mole S.E., Lehesjoki A.-E.
Brain 132:810-819(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CLN7 HIS-139; PRO-157; LYS-294; ASP-310 AND TRP-465.
[9]"Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis."
Aiello C., Terracciano A., Simonati A., Discepoli G., Cannelli N., Claps D., Crow Y.J., Bianchi M., Kitzmuller C., Longo D., Tavoni A., Franzoni E., Tessa A., Veneselli E., Boldrini R., Filocamo M., Williams R.E., Bertini E.S. expand/collapse author list , Biancheri R., Carrozzo R., Mole S.E., Santorelli F.M.
Hum. Mutat. 30:E530-E540(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CLN7 ARG-52; LYS-294; ASP-310 AND LEU-447.
[10]"A novel mutation in the MFSD8 gene in late infantile neuronal ceroid lipofuscinosis."
Stogmann E., El Tawil S., Wagenstaller J., Gaber A., Edris S., Abdelhady A., Assem-Hilger E., Leutmezer F., Bonelli S., Baumgartner C., Zimprich F., Strom T.M., Zimprich A.
Neurogenetics 10:73-77(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CLN7 CYS-121.
[11]"Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses."
Kousi M., Lehesjoki A.E., Mole S.E.
Hum. Mutat. 33:42-63(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CLN7 PRO-157; ASN-160; ILE-160; LYS-458; GLN-465 AND VAL-470.
+Additional computationally mapped references.

Web resources

NCL CLN7/MFSD8

Neural Ceroid Lipofuscinoses mutation db

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AK074564 mRNA. Translation: BAC11062.1.
AK315596 mRNA. Translation: BAG37968.1.
AC099340 Genomic DNA. No translation available.
CH471056 Genomic DNA. Translation: EAX05195.1.
BC029503 mRNA. Translation: AAH29503.1.
RefSeqNP_689991.1. NM_152778.2.
XP_005262950.1. XM_005262893.1.
UniGeneHs.480701.

3D structure databases

ProteinModelPortalQ8NHS3.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid129168. 1 interaction.
MINTMINT-3043443.
STRING9606.ENSP00000296468.

Protein family/group databases

TCDB2.A.1.2.56. the major facilitator superfamily (mfs).

PTM databases

PhosphoSiteQ8NHS3.

Polymorphism databases

DMDM74730313.

Proteomic databases

PaxDbQ8NHS3.
PRIDEQ8NHS3.

Protocols and materials databases

DNASU256471.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000296468; ENSP00000296468; ENSG00000164073.
GeneID256471.
KEGGhsa:256471.
UCSCuc003ifp.3. human.

Organism-specific databases

CTD256471.
GeneCardsGC04M128838.
HGNCHGNC:28486. MFSD8.
HPAHPA044802.
MIM610951. phenotype.
611124. gene.
neXtProtNX_Q8NHS3.
Orphanet228366. CLN7 disease.
PharmGKBPA162395842.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG294425.
HOGENOMHOG000047970.
HOVERGENHBG061584.
InParanoidQ8NHS3.
KOK12307.
OMALQINMYT.
OrthoDBEOG7M3J04.
PhylomeDBQ8NHS3.
TreeFamTF316590.

Gene expression databases

ArrayExpressQ8NHS3.
BgeeQ8NHS3.
CleanExHS_MFSD8.
GenevestigatorQ8NHS3.

Family and domain databases

InterProIPR011701. MFS.
IPR020846. MFS_dom.
IPR016196. MFS_dom_general_subst_transpt.
[Graphical view]
PfamPF07690. MFS_1. 1 hit.
[Graphical view]
SUPFAMSSF103473. SSF103473. 2 hits.
PROSITEPS50850. MFS. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiMFSD8.
GenomeRNAi256471.
NextBio92817.
PROQ8NHS3.
SOURCESearch...

Entry information

Entry nameMFSD8_HUMAN
AccessionPrimary (citable) accession number: Q8NHS3
Secondary accession number(s): B2RDM1, Q8N2P3
Entry history
Integrated into UniProtKB/Swiss-Prot: November 13, 2007
Last sequence update: October 1, 2002
Last modified: April 16, 2014
This is version 100 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 4

Human chromosome 4: entries, gene names and cross-references to MIM