Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Major facilitator superfamily domain-containing protein 8

Gene

MFSD8

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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

GO - Biological processi

Keywordsi

Biological processTransport

Protein family/group databases

TCDBi2.A.1.2.56 the major facilitator superfamily (mfs)

Names & Taxonomyi

Protein namesi
Recommended name:
Major facilitator superfamily domain-containing protein 8
Alternative name(s):
Ceroid-lipofuscinosis neuronal protein 7
Gene namesi
Name:MFSD8
Synonyms:CLN7
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 4

Organism-specific databases

EuPathDBiHostDB:ENSG00000164073.9
HGNCiHGNC:28486 MFSD8
MIMi611124 gene
neXtProtiNX_Q8NHS3

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 40CytoplasmicSequence analysisAdd BLAST40
Transmembranei41 – 61HelicalSequence analysisAdd BLAST21
Topological domaini62 – 74ExtracellularSequence analysisAdd BLAST13
Transmembranei75 – 95HelicalSequence analysisAdd BLAST21
Topological domaini96 – 105CytoplasmicSequence analysis10
Transmembranei106 – 126HelicalSequence analysisAdd BLAST21
Topological domaini127 – 131ExtracellularSequence analysis5
Transmembranei132 – 152HelicalSequence analysisAdd BLAST21
Topological domaini153 – 173CytoplasmicSequence analysisAdd BLAST21
Transmembranei174 – 194HelicalSequence analysisAdd BLAST21
Topological domaini195 – 211ExtracellularSequence analysisAdd BLAST17
Transmembranei212 – 232HelicalSequence analysisAdd BLAST21
Topological domaini233 – 266CytoplasmicSequence analysisAdd BLAST34
Transmembranei267 – 287HelicalSequence analysisAdd BLAST21
Topological domaini288 – 304ExtracellularSequence analysisAdd BLAST17
Transmembranei305 – 325HelicalSequence analysisAdd BLAST21
Topological domaini326 – 337CytoplasmicSequence analysisAdd BLAST12
Transmembranei338 – 358HelicalSequence analysisAdd BLAST21
Topological domaini359 – 412ExtracellularSequence analysisAdd BLAST54
Transmembranei413 – 433HelicalSequence analysisAdd BLAST21
Topological domaini434 – 451CytoplasmicSequence analysisAdd BLAST18
Transmembranei452 – 472HelicalSequence analysisAdd BLAST21
Topological domaini473 – 482ExtracellularSequence analysis10
Transmembranei483 – 503HelicalSequence analysisAdd BLAST21
Topological domaini504 – 518CytoplasmicSequence analysisAdd BLAST15

Keywords - Cellular componenti

Lysosome, Membrane

Pathology & Biotechi

Involvement in diseasei

Ceroid lipofuscinosis, neuronal, 7 (CLN7)7 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:610951
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05842752G → R in CLN7. 1 PublicationCorresponds to variant dbSNP:rs779838200Ensembl.1
Natural variantiVAR_058428121Y → C in CLN7. 1 PublicationCorresponds to variant dbSNP:rs118203978EnsemblClinVar.1
Natural variantiVAR_058429139R → H in CLN7. 1 PublicationCorresponds to variant dbSNP:rs749704755EnsemblClinVar.1
Natural variantiVAR_058430157A → P in CLN7; due to a deletion-insertion mutation at nucleotide level. 2 Publications1
Natural variantiVAR_066915160T → I in CLN7. 1 PublicationCorresponds to variant dbSNP:rs1162750836Ensembl.1
Natural variantiVAR_066916160T → N in CLN7. 1 Publication1
Natural variantiVAR_058431294T → K in CLN7. 3 PublicationsCorresponds to variant dbSNP:rs140948465EnsemblClinVar.1
Natural variantiVAR_037177310G → D in CLN7; lysosomal localization. 3 PublicationsCorresponds to variant dbSNP:rs118203975EnsemblClinVar.1
Natural variantiVAR_072674412P → L in CLN7. 1 PublicationCorresponds to variant dbSNP:rs267607235EnsemblClinVar.1
Natural variantiVAR_037180429G → D in CLN7; lysosomal localization. 1 PublicationCorresponds to variant dbSNP:rs118203976EnsemblClinVar.1
Natural variantiVAR_058432447P → L in CLN7. 1 Publication1
Natural variantiVAR_066917458T → K in CLN7. 1 Publication1
Natural variantiVAR_066918465R → Q in CLN7. 1 PublicationCorresponds to variant dbSNP:rs1275962600Ensembl.1
Natural variantiVAR_058433465R → W in CLN7. 1 Publication1
Natural variantiVAR_066919470M → V in CLN7. 1 PublicationCorresponds to variant dbSNP:rs764549054EnsemblClinVar.1
Macular dystrophy with central cone involvement (CCMD)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
See also OMIM:616170
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_072673336E → Q in CCMD. 1 PublicationCorresponds to variant dbSNP:rs150418024EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Neurodegeneration, Neuronal ceroid lipofuscinosis

Organism-specific databases

DisGeNETi256471
GeneReviewsiMFSD8
MalaCardsiMFSD8
MIMi610951 phenotype
616170 phenotype
OpenTargetsiENSG00000164073
Orphaneti228366 CLN7 disease
PharmGKBiPA162395842

Polymorphism and mutation databases

BioMutaiMFSD8
DMDMi74730313

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003112321 – 518Major facilitator superfamily domain-containing protein 8Add BLAST518

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi371N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi376N-linked (GlcNAc...) asparagine1 Publication1

Keywords - PTMi

Glycoprotein

Proteomic databases

EPDiQ8NHS3
MaxQBiQ8NHS3
PaxDbiQ8NHS3
PeptideAtlasiQ8NHS3
PRIDEiQ8NHS3
ProteomicsDBi73747

PTM databases

iPTMnetiQ8NHS3
PhosphoSitePlusiQ8NHS3

Expressioni

Tissue specificityi

Expressed at very low levels in all tissues tested.1 Publication

Gene expression databases

BgeeiENSG00000164073 Expressed in 198 organ(s), highest expression level in small intestine Peyer's patch
CleanExiHS_MFSD8
ExpressionAtlasiQ8NHS3 baseline and differential
GenevisibleiQ8NHS3 HS

Organism-specific databases

HPAiHPA044802

Interactioni

Protein-protein interaction databases

BioGridi129168, 26 interactors
STRINGi9606.ENSP00000296468

Structurei

3D structure databases

ProteinModelPortaliQ8NHS3
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi13 – 14Dileucine internalization motif2

Sequence similaritiesi

Belongs to the major facilitator superfamily.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG2325 Eukaryota
ENOG410XT79 LUCA
GeneTreeiENSGT00530000063854
HOGENOMiHOG000047970
HOVERGENiHBG061584
InParanoidiQ8NHS3
KOiK12307
OMAiDAGKEFM
OrthoDBiEOG091G04UM
PhylomeDBiQ8NHS3
TreeFamiTF316590

Family and domain databases

CDDicd06174 MFS, 1 hit
InterProiView protein in InterPro
IPR011701 MFS
IPR020846 MFS_dom
IPR036259 MFS_trans_sf
PfamiView protein in Pfam
PF07690 MFS_1, 1 hit
SUPFAMiSSF103473 SSF103473, 1 hit
PROSITEiView protein in PROSITE
PS50850 MFS, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 33 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8NHS3-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MAGLRNESEQ EPLLGDTPGS REWDILETEE HYKSRWRSIR ILYLTMFLSS
60 70 80 90 100
VGFSVVMMSI WPYLQKIDPT ADTSFLGWVI ASYSLGQMVA SPIFGLWSNY
110 120 130 140 150
RPRKEPLIVS ILISVAANCL YAYLHIPASH NKYYMLVARG LLGIGAGNVA
160 170 180 190 200
VVRSYTAGAT SLQERTSSMA NISMCQALGF ILGPVFQTCF TFLGEKGVTW
210 220 230 240 250
DVIKLQINMY TTPVLLSAFL GILNIILILA ILREHRVDDS GRQCKSINFE
260 270 280 290 300
EASTDEAQVP QGNIDQVAVV AINVLFFVTL FIFALFETII TPLTMDMYAW
310 320 330 340 350
TQEQAVLYNG IILAALGVEA VVIFLGVKLL SKKIGERAIL LGGLIVVWVG
360 370 380 390 400
FFILLPWGNQ FPKIQWEDLH NNSIPNTTFG EIIIGLWKSP MEDDNERPTG
410 420 430 440 450
CSIEQAWCLY TPVIHLAQFL TSAVLIGLGY PVCNLMSYTL YSKILGPKPQ
460 470 480 490 500
GVYMGWLTAS GSGARILGPM FISQVYAHWG PRWAFSLVCG IIVLTITLLG
510
VVYKRLIALS VRYGRIQE
Length:518
Mass (Da):57,628
Last modified:October 1, 2002 - v1
Checksum:i105A5F6A35B2291F
GO
Isoform 2 (identifier: Q8NHS3-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-45: Missing.
     147-184: Missing.
     233-236: REHR → SKYR
     237-518: Missing.

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. No experimental confirmation available.
Show »
Length:153
Mass (Da):17,092
Checksum:i7F97C50B016FE139
GO

Computationally mapped potential isoform sequencesi

There are 33 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A286YEW8A0A286YEW8_HUMAN
Major facilitator superfamily domai...
MFSD8 MGC33302, hCG_1778573
451Annotation score:
A0A286YFF1A0A286YFF1_HUMAN
Major facilitator superfamily domai...
MFSD8
413Annotation score:
A0A286YFI8A0A286YFI8_HUMAN
Major facilitator superfamily domai...
MFSD8 MGC33302, hCG_1778573
480Annotation score:
A0A286YF93A0A286YF93_HUMAN
Major facilitator superfamily domai...
MFSD8
127Annotation score:
A0A286YFB5A0A286YFB5_HUMAN
Major facilitator superfamily domai...
MFSD8
368Annotation score:
B7Z2B2B7Z2B2_HUMAN
Major facilitator superfamily domai...
MFSD8
184Annotation score:
E7ERQ4E7ERQ4_HUMAN
Major facilitator superfamily domai...
MFSD8
424Annotation score:
A0A286YF73A0A286YF73_HUMAN
Major facilitator superfamily domai...
MFSD8
336Annotation score:
A0A286YFM2A0A286YFM2_HUMAN
Major facilitator superfamily domai...
MFSD8
269Annotation score:
A0A286YF72A0A286YF72_HUMAN
Major facilitator superfamily domai...
MFSD8
298Annotation score:
There are more potential isoformsShow all

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti189C → Y in BAC11062 (PubMed:14702039).Curated1
Sequence conflicti487L → R in BAC11062 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05842752G → R in CLN7. 1 PublicationCorresponds to variant dbSNP:rs779838200Ensembl.1
Natural variantiVAR_037176109V → G. Corresponds to variant dbSNP:rs11732377Ensembl.1
Natural variantiVAR_058428121Y → C in CLN7. 1 PublicationCorresponds to variant dbSNP:rs118203978EnsemblClinVar.1
Natural variantiVAR_058429139R → H in CLN7. 1 PublicationCorresponds to variant dbSNP:rs749704755EnsemblClinVar.1
Natural variantiVAR_058430157A → P in CLN7; due to a deletion-insertion mutation at nucleotide level. 2 Publications1
Natural variantiVAR_066915160T → I in CLN7. 1 PublicationCorresponds to variant dbSNP:rs1162750836Ensembl.1
Natural variantiVAR_066916160T → N in CLN7. 1 Publication1
Natural variantiVAR_058431294T → K in CLN7. 3 PublicationsCorresponds to variant dbSNP:rs140948465EnsemblClinVar.1
Natural variantiVAR_037177310G → D in CLN7; lysosomal localization. 3 PublicationsCorresponds to variant dbSNP:rs118203975EnsemblClinVar.1
Natural variantiVAR_072673336E → Q in CCMD. 1 PublicationCorresponds to variant dbSNP:rs150418024EnsemblClinVar.1
Natural variantiVAR_037178385G → R. Corresponds to variant dbSNP:rs11098943EnsemblClinVar.1
Natural variantiVAR_072674412P → L in CLN7. 1 PublicationCorresponds to variant dbSNP:rs267607235EnsemblClinVar.1
Natural variantiVAR_037179423A → V1 PublicationCorresponds to variant dbSNP:rs3733319EnsemblClinVar.1
Natural variantiVAR_037180429G → D in CLN7; lysosomal localization. 1 PublicationCorresponds to variant dbSNP:rs118203976EnsemblClinVar.1
Natural variantiVAR_058432447P → L in CLN7. 1 Publication1
Natural variantiVAR_066917458T → K in CLN7. 1 Publication1
Natural variantiVAR_066918465R → Q in CLN7. 1 PublicationCorresponds to variant dbSNP:rs1275962600Ensembl.1
Natural variantiVAR_058433465R → W in CLN7. 1 Publication1
Natural variantiVAR_066919470M → V in CLN7. 1 PublicationCorresponds to variant dbSNP:rs764549054EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0570541 – 45Missing in isoform 2. 1 PublicationAdd BLAST45
Alternative sequenceiVSP_057055147 – 184Missing in isoform 2. 1 PublicationAdd BLAST38
Alternative sequenceiVSP_057056233 – 236REHR → SKYR in isoform 2. 1 Publication4
Alternative sequenceiVSP_057057237 – 518Missing in isoform 2. 1 PublicationAdd BLAST282

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK074564 mRNA Translation: BAC11062.1
AK294184 mRNA Translation: BAH11691.1
AK315596 mRNA Translation: BAG37968.1
AC099340 Genomic DNA No translation available.
CH471056 Genomic DNA Translation: EAX05195.1
BC029503 mRNA Translation: AAH29503.1
CCDSiCCDS3736.1 [Q8NHS3-1]
RefSeqiNP_689991.1, NM_152778.2 [Q8NHS3-1]
XP_005262950.1, XM_005262893.1 [Q8NHS3-1]
UniGeneiHs.480701

Genome annotation databases

EnsembliENST00000296468; ENSP00000296468; ENSG00000164073 [Q8NHS3-1]
ENST00000641434; ENSP00000493279; ENSG00000164073 [Q8NHS3-1]
ENST00000641464; ENSP00000493438; ENSG00000164073 [Q8NHS3-2]
ENST00000641686; ENSP00000493218; ENSG00000164073 [Q8NHS3-1]
ENST00000641748; ENSP00000493330; ENSG00000164073 [Q8NHS3-1]
ENST00000641928; ENSP00000493418; ENSG00000164073 [Q8NHS3-2]
GeneIDi256471
KEGGihsa:256471
UCSCiuc003ifp.4 human [Q8NHS3-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Web resourcesi

NCL CLN7/MFSD8

Neural Ceroid Lipofuscinoses mutation db

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK074564 mRNA Translation: BAC11062.1
AK294184 mRNA Translation: BAH11691.1
AK315596 mRNA Translation: BAG37968.1
AC099340 Genomic DNA No translation available.
CH471056 Genomic DNA Translation: EAX05195.1
BC029503 mRNA Translation: AAH29503.1
CCDSiCCDS3736.1 [Q8NHS3-1]
RefSeqiNP_689991.1, NM_152778.2 [Q8NHS3-1]
XP_005262950.1, XM_005262893.1 [Q8NHS3-1]
UniGeneiHs.480701

3D structure databases

ProteinModelPortaliQ8NHS3
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi129168, 26 interactors
STRINGi9606.ENSP00000296468

Protein family/group databases

TCDBi2.A.1.2.56 the major facilitator superfamily (mfs)

PTM databases

iPTMnetiQ8NHS3
PhosphoSitePlusiQ8NHS3

Polymorphism and mutation databases

BioMutaiMFSD8
DMDMi74730313

Proteomic databases

EPDiQ8NHS3
MaxQBiQ8NHS3
PaxDbiQ8NHS3
PeptideAtlasiQ8NHS3
PRIDEiQ8NHS3
ProteomicsDBi73747

Protocols and materials databases

DNASUi256471
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000296468; ENSP00000296468; ENSG00000164073 [Q8NHS3-1]
ENST00000641434; ENSP00000493279; ENSG00000164073 [Q8NHS3-1]
ENST00000641464; ENSP00000493438; ENSG00000164073 [Q8NHS3-2]
ENST00000641686; ENSP00000493218; ENSG00000164073 [Q8NHS3-1]
ENST00000641748; ENSP00000493330; ENSG00000164073 [Q8NHS3-1]
ENST00000641928; ENSP00000493418; ENSG00000164073 [Q8NHS3-2]
GeneIDi256471
KEGGihsa:256471
UCSCiuc003ifp.4 human [Q8NHS3-1]

Organism-specific databases

CTDi256471
DisGeNETi256471
EuPathDBiHostDB:ENSG00000164073.9
GeneCardsiMFSD8
GeneReviewsiMFSD8
HGNCiHGNC:28486 MFSD8
HPAiHPA044802
MalaCardsiMFSD8
MIMi610951 phenotype
611124 gene
616170 phenotype
neXtProtiNX_Q8NHS3
OpenTargetsiENSG00000164073
Orphaneti228366 CLN7 disease
PharmGKBiPA162395842
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2325 Eukaryota
ENOG410XT79 LUCA
GeneTreeiENSGT00530000063854
HOGENOMiHOG000047970
HOVERGENiHBG061584
InParanoidiQ8NHS3
KOiK12307
OMAiDAGKEFM
OrthoDBiEOG091G04UM
PhylomeDBiQ8NHS3
TreeFamiTF316590

Miscellaneous databases

ChiTaRSiMFSD8 human
GeneWikiiMFSD8
GenomeRNAii256471
PROiPR:Q8NHS3
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000164073 Expressed in 198 organ(s), highest expression level in small intestine Peyer's patch
CleanExiHS_MFSD8
ExpressionAtlasiQ8NHS3 baseline and differential
GenevisibleiQ8NHS3 HS

Family and domain databases

CDDicd06174 MFS, 1 hit
InterProiView protein in InterPro
IPR011701 MFS
IPR020846 MFS_dom
IPR036259 MFS_trans_sf
PfamiView protein in Pfam
PF07690 MFS_1, 1 hit
SUPFAMiSSF103473 SSF103473, 1 hit
PROSITEiView protein in PROSITE
PS50850 MFS, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiMFSD8_HUMAN
AccessioniPrimary (citable) accession number: Q8NHS3
Secondary accession number(s): B2RDM1, B7Z205, Q8N2P3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 13, 2007
Last sequence update: October 1, 2002
Last modified: November 7, 2018
This is version 139 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again