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Entry version 147 (26 Feb 2020)
Sequence version 1 (01 Oct 2002)
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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

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processTransport

Protein family/group databases

Transport Classification Database

More...
TCDBi
2.A.1.2.56 the major facilitator superfamily (mfs)

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Major facilitator superfamily domain-containing protein 8
Alternative name(s):
Ceroid-lipofuscinosis neuronal protein 7
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:MFSD8
Synonyms:CLN7
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 4

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:28486 MFSD8

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
611124 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q8NHS3

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 40CytoplasmicSequence analysisAdd BLAST40
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>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

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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 PublicationCorresponds to variant dbSNP:rs1043984708Ensembl.1
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.
Related information in OMIM
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

DisGeNET

More...
DisGeNETi
256471

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
MFSD8

MalaCards human disease database

More...
MalaCardsi
MFSD8
MIMi610951 phenotype
616170 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000164073

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
228366 CLN7 disease

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA162395842

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q8NHS3 Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
MFSD8

Domain mapping of disease mutations (DMDM)

More...
DMDMi
74730313

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00003112321 – 518Major facilitator superfamily domain-containing protein 8Add BLAST518

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi371N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi376N-linked (GlcNAc...) asparagine1 Publication1

Keywords - PTMi

Glycoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q8NHS3

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q8NHS3

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q8NHS3

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q8NHS3

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q8NHS3

PeptideAtlas

More...
PeptideAtlasi
Q8NHS3

PRoteomics IDEntifications database

More...
PRIDEi
Q8NHS3

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
6392
73747 [Q8NHS3-1]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q8NHS3

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q8NHS3

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000164073 Expressed in small intestine Peyer's patch and 197 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q8NHS3 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q8NHS3 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA044802

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
129168, 26 interactors

Protein interaction database and analysis system

More...
IntActi
Q8NHS3, 22 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000296468

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q8NHS3 protein

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi13 – 14Dileucine internalization motif2

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the major facilitator superfamily.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG2325 Eukaryota
ENOG410XT79 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00530000063854

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_1712618_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q8NHS3

KEGG Orthology (KO)

More...
KOi
K12307

Identification of Orthologs from Complete Genome Data

More...
OMAi
DAGKEFM

Database of Orthologous Groups

More...
OrthoDBi
685352at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q8NHS3

TreeFam database of animal gene trees

More...
TreeFami
TF316590

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR011701 MFS
IPR020846 MFS_dom
IPR036259 MFS_trans_sf

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF07690 MFS_1, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF103473 SSF103473, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50850 MFS, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> 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 <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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.Curated
Show »
Length:153
Mass (Da):17,092
Checksum:i7F97C50B016FE139
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>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:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A286YFI8A0A286YFI8_HUMAN
Major facilitator superfamily domai...
MFSD8 MGC33302, hCG_1778573
480Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A286YF73A0A286YF73_HUMAN
Major facilitator superfamily domai...
MFSD8
336Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A286YFF1A0A286YFF1_HUMAN
Major facilitator superfamily domai...
MFSD8
413Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A286YFM2A0A286YFM2_HUMAN
Major facilitator superfamily domai...
MFSD8
269Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A286YF72A0A286YF72_HUMAN
Major facilitator superfamily domai...
MFSD8
298Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A286YEV4A0A286YEV4_HUMAN
Major facilitator superfamily domai...
MFSD8
254Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A286YF51A0A286YF51_HUMAN
Major facilitator superfamily domai...
MFSD8
288Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A286YFE6A0A286YFE6_HUMAN
Major facilitator superfamily domai...
MFSD8
145Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A286YFE7A0A286YFE7_HUMAN
Major facilitator superfamily domai...
MFSD8
237Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
There are more potential isoformsShow all

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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 PublicationCorresponds to variant dbSNP:rs1043984708Ensembl.1
Natural variantiVAR_066919470M → V in CLN7. 1 PublicationCorresponds to variant dbSNP:rs764549054EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
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

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS3736.1 [Q8NHS3-1]

NCBI Reference Sequences

More...
RefSeqi
NP_689991.1, NM_152778.2 [Q8NHS3-1]
XP_005262950.1, XM_005262893.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000296468; 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]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
256471

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:256471

UCSC genome browser

More...
UCSCi
uc003ifp.4 human [Q8NHS3-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross%5Freferences%5Fsection">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>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

3D structure databases

Database of comparative protein structure models

More...
ModBasei
Search...

SWISS-MODEL Interactive Workspace

More...
SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

BioGridi129168, 26 interactors
IntActiQ8NHS3, 22 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
jPOSTiQ8NHS3
MassIVEiQ8NHS3
MaxQBiQ8NHS3
PaxDbiQ8NHS3
PeptideAtlasiQ8NHS3
PRIDEiQ8NHS3
ProteomicsDBi6392
73747 [Q8NHS3-1]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
256471

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

Comparative Toxicogenomics Database

More...
CTDi
256471
DisGeNETi256471

GeneCards: human genes, protein and diseases

More...
GeneCardsi
MFSD8
GeneReviewsiMFSD8
HGNCiHGNC:28486 MFSD8
HPAiHPA044802
MalaCardsiMFSD8
MIMi610951 phenotype
611124 gene
616170 phenotype
neXtProtiNX_Q8NHS3
OpenTargetsiENSG00000164073
Orphaneti228366 CLN7 disease
PharmGKBiPA162395842

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG2325 Eukaryota
ENOG410XT79 LUCA
GeneTreeiENSGT00530000063854
HOGENOMiCLU_1712618_0_0_1
InParanoidiQ8NHS3
KOiK12307
OMAiDAGKEFM
OrthoDBi685352at2759
PhylomeDBiQ8NHS3
TreeFamiTF316590

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
MFSD8 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
MFSD8

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
256471
PharosiQ8NHS3 Tbio

Protein Ontology

More...
PROi
PR:Q8NHS3
RNActiQ8NHS3 protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000164073 Expressed in small intestine Peyer's patch and 197 other tissues
ExpressionAtlasiQ8NHS3 baseline and differential
GenevisibleiQ8NHS3 HS

Family and domain databases

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

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiMFSD8_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q8NHS3
Secondary accession number(s): B2RDM1, B7Z205, Q8N2P3
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 13, 2007
Last sequence update: October 1, 2002
Last modified: February 26, 2020
This is version 147 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

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
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