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Protein

Major facilitator superfamily domain-containing protein 8

Gene

MFSD8

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Transport

Enzyme and pathway databases

BioCyciZFISH:ENSG00000164073-MONOMER.

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

HGNCiHGNC:28486. MFSD8.

Subcellular locationi

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

GO - Cellular componenti

Complete GO annotation...

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 rs779838200dbSNPEnsembl.1
Natural variantiVAR_058428121Y → C in CLN7. 1 PublicationCorresponds to variant rs118203978dbSNPEnsembl.1
Natural variantiVAR_058429139R → H in CLN7. 1 PublicationCorresponds to variant rs749704755dbSNPEnsembl.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 Publication1
Natural variantiVAR_066916160T → N in CLN7. 1 Publication1
Natural variantiVAR_058431294T → K in CLN7. 3 PublicationsCorresponds to variant rs140948465dbSNPEnsembl.1
Natural variantiVAR_037177310G → D in CLN7; lysosomal localization. 3 PublicationsCorresponds to variant rs118203975dbSNPEnsembl.1
Natural variantiVAR_072674412P → L in CLN7. 1 PublicationCorresponds to variant rs267607235dbSNPEnsembl.1
Natural variantiVAR_037180429G → D in CLN7; lysosomal localization. 1 PublicationCorresponds to variant rs118203976dbSNPEnsembl.1
Natural variantiVAR_058432447P → L in CLN7. 1 Publication1
Natural variantiVAR_066917458T → K in CLN7. 1 Publication1
Natural variantiVAR_066918465R → Q in CLN7. 1 Publication1
Natural variantiVAR_058433465R → W in CLN7. 1 Publication1
Natural variantiVAR_066919470M → V in CLN7. 1 PublicationCorresponds to variant rs764549054dbSNPEnsembl.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 rs150418024dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation, Neurodegeneration, Neuronal ceroid lipofuscinosis

Organism-specific databases

DisGeNETi256471.
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...)1 Publication1
Glycosylationi376N-linked (GlcNAc...)1 Publication1

Keywords - PTMi

Glycoprotein

Proteomic databases

EPDiQ8NHS3.
MaxQBiQ8NHS3.
PaxDbiQ8NHS3.
PeptideAtlasiQ8NHS3.
PRIDEiQ8NHS3.

PTM databases

iPTMnetiQ8NHS3.
PhosphoSitePlusiQ8NHS3.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000164073.
CleanExiHS_MFSD8.
ExpressionAtlasiQ8NHS3. baseline and differential.
GenevisibleiQ8NHS3. HS.

Organism-specific databases

HPAiHPA044802.

Interactioni

Protein-protein interaction databases

BioGridi129168. 22 interactors.
MINTiMINT-3043443.
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.
OMAiMIHLAQF.
OrthoDBiEOG091G04UM.
PhylomeDBiQ8NHS3.
TreeFamiTF316590.

Family and domain databases

CDDicd06174. MFS. 1 hit.
InterProiIPR011701. MFS.
IPR020846. MFS_dom.
[Graphical view]
PfamiPF07690. MFS_1. 1 hit.
[Graphical view]
SUPFAMiSSF103473. SSF103473. 2 hits.
PROSITEiPS50850. MFS. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

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

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: No experimental confirmation available.
Show »
Length:153
Mass (Da):17,092
Checksum:i7F97C50B016FE139
GO

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 rs779838200dbSNPEnsembl.1
Natural variantiVAR_037176109V → G.Corresponds to variant rs11732377dbSNPEnsembl.1
Natural variantiVAR_058428121Y → C in CLN7. 1 PublicationCorresponds to variant rs118203978dbSNPEnsembl.1
Natural variantiVAR_058429139R → H in CLN7. 1 PublicationCorresponds to variant rs749704755dbSNPEnsembl.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 Publication1
Natural variantiVAR_066916160T → N in CLN7. 1 Publication1
Natural variantiVAR_058431294T → K in CLN7. 3 PublicationsCorresponds to variant rs140948465dbSNPEnsembl.1
Natural variantiVAR_037177310G → D in CLN7; lysosomal localization. 3 PublicationsCorresponds to variant rs118203975dbSNPEnsembl.1
Natural variantiVAR_072673336E → Q in CCMD. 1 PublicationCorresponds to variant rs150418024dbSNPEnsembl.1
Natural variantiVAR_037178385G → R.Corresponds to variant rs11098943dbSNPEnsembl.1
Natural variantiVAR_072674412P → L in CLN7. 1 PublicationCorresponds to variant rs267607235dbSNPEnsembl.1
Natural variantiVAR_037179423A → V.1 PublicationCorresponds to variant rs3733319dbSNPEnsembl.1
Natural variantiVAR_037180429G → D in CLN7; lysosomal localization. 1 PublicationCorresponds to variant rs118203976dbSNPEnsembl.1
Natural variantiVAR_058432447P → L in CLN7. 1 Publication1
Natural variantiVAR_066917458T → K in CLN7. 1 Publication1
Natural variantiVAR_066918465R → Q in CLN7. 1 Publication1
Natural variantiVAR_058433465R → W in CLN7. 1 Publication1
Natural variantiVAR_066919470M → V in CLN7. 1 PublicationCorresponds to variant rs764549054dbSNPEnsembl.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]
ENST00000509826; ENSP00000421176; ENSG00000164073. [Q8NHS3-2]
GeneIDi256471.
KEGGihsa:256471.
UCSCiuc003ifp.4. human. [Q8NHS3-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

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. 22 interactors.
MINTiMINT-3043443.
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.

Protocols and materials databases

DNASUi256471.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000296468; ENSP00000296468; ENSG00000164073. [Q8NHS3-1]
ENST00000509826; ENSP00000421176; ENSG00000164073. [Q8NHS3-2]
GeneIDi256471.
KEGGihsa:256471.
UCSCiuc003ifp.4. human. [Q8NHS3-1]

Organism-specific databases

CTDi256471.
DisGeNETi256471.
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.
OMAiMIHLAQF.
OrthoDBiEOG091G04UM.
PhylomeDBiQ8NHS3.
TreeFamiTF316590.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000164073-MONOMER.

Miscellaneous databases

GeneWikiiMFSD8.
GenomeRNAii256471.
PROiQ8NHS3.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000164073.
CleanExiHS_MFSD8.
ExpressionAtlasiQ8NHS3. baseline and differential.
GenevisibleiQ8NHS3. HS.

Family and domain databases

CDDicd06174. MFS. 1 hit.
InterProiIPR011701. MFS.
IPR020846. MFS_dom.
[Graphical view]
PfamiPF07690. MFS_1. 1 hit.
[Graphical view]
SUPFAMiSSF103473. SSF103473. 2 hits.
PROSITEiPS50850. MFS. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiMFSD8_HUMAN
AccessioniPrimary (citable) accession number: Q8NHS3
Secondary accession number(s): B2RDM1, B7Z205, Q8N2P3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 13, 2007
Last sequence update: October 1, 2002
Last modified: November 2, 2016
This is version 124 of the entry and version 1 of the sequence. [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. Human chromosome 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.