MFSD8

Functionⁱ

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

GO - Molecular functionⁱ

transmembrane transporter activity Source: InterPro

Complete GO annotation on QuickGO ...

GO - Biological processⁱ

autophagosome maturation Source: Ensembl
lysosome organization Source: Ensembl
neuron development Source: Ensembl
regulation of autophagy Source: Ensembl
regulation of lysosomal protein catabolic process Source: Ensembl
TORC1 signaling Source: Ensembl

Complete GO annotation on QuickGO ...

Keywordsⁱ

Biological process	Transport

Biological process

Transport

Enzyme and pathway databases

PathwayCommonsⁱ	Q8NHS3

PathwayCommonsⁱ

Q8NHS3

Protein family/group databases

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

TCDBⁱ

2.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
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 4

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000164073.9
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:28486, MFSD8
MIMⁱ	611124, gene
neXtProtⁱ	NX_Q8NHS3

Topology

Feature key	Position(s)	DescriptionActions	Length
Topological domainⁱ	1 – 40	CytoplasmicSequence analysisAdd BLAST	40
Transmembraneⁱ	41 – 61	HelicalSequence analysisAdd BLAST	21
Topological domainⁱ	62 – 74	ExtracellularSequence analysisAdd BLAST	13
Transmembraneⁱ	75 – 95	HelicalSequence analysisAdd BLAST	21
Topological domainⁱ	96 – 105	CytoplasmicSequence analysis	10
Transmembraneⁱ	106 – 126	HelicalSequence analysisAdd BLAST	21
Topological domainⁱ	127 – 131	ExtracellularSequence analysis	5
Transmembraneⁱ	132 – 152	HelicalSequence analysisAdd BLAST	21
Topological domainⁱ	153 – 173	CytoplasmicSequence analysisAdd BLAST	21
Transmembraneⁱ	174 – 194	HelicalSequence analysisAdd BLAST	21
Topological domainⁱ	195 – 211	ExtracellularSequence analysisAdd BLAST	17
Transmembraneⁱ	212 – 232	HelicalSequence analysisAdd BLAST	21
Topological domainⁱ	233 – 266	CytoplasmicSequence analysisAdd BLAST	34
Transmembraneⁱ	267 – 287	HelicalSequence analysisAdd BLAST	21
Topological domainⁱ	288 – 304	ExtracellularSequence analysisAdd BLAST	17
Transmembraneⁱ	305 – 325	HelicalSequence analysisAdd BLAST	21
Topological domainⁱ	326 – 337	CytoplasmicSequence analysisAdd BLAST	12
Transmembraneⁱ	338 – 358	HelicalSequence analysisAdd BLAST	21
Topological domainⁱ	359 – 412	ExtracellularSequence analysisAdd BLAST	54
Transmembraneⁱ	413 – 433	HelicalSequence analysisAdd BLAST	21
Topological domainⁱ	434 – 451	CytoplasmicSequence analysisAdd BLAST	18
Transmembraneⁱ	452 – 472	HelicalSequence analysisAdd BLAST	21
Topological domainⁱ	473 – 482	ExtracellularSequence analysis	10
Transmembraneⁱ	483 – 503	HelicalSequence analysisAdd BLAST	21
Topological domainⁱ	504 – 518	CytoplasmicSequence analysisAdd BLAST	15

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.

Related information in OMIM

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_058427	52	G → R in CLN7. 1 PublicationCorresponds to variant dbSNP:rs779838200Ensembl.	1
Natural variantⁱVAR_058428	121	Y → C in CLN7. 1 PublicationCorresponds to variant dbSNP:rs118203978EnsemblClinVar.	1
Natural variantⁱVAR_058429	139	R → H in CLN7. 1 PublicationCorresponds to variant dbSNP:rs749704755EnsemblClinVar.	1
Natural variantⁱVAR_058430	157	A → P in CLN7; due to a deletion-insertion mutation at nucleotide level. 2 Publications	1
Natural variantⁱVAR_066915	160	T → I in CLN7. 1 PublicationCorresponds to variant dbSNP:rs1162750836Ensembl.	1
Natural variantⁱVAR_066916	160	T → N in CLN7. 1 Publication	1
Natural variantⁱVAR_058431	294	T → K in CLN7. 3 PublicationsCorresponds to variant dbSNP:rs140948465EnsemblClinVar.	1
Natural variantⁱVAR_037177	310	G → D in CLN7; lysosomal localization. 3 PublicationsCorresponds to variant dbSNP:rs118203975EnsemblClinVar.	1
Natural variantⁱVAR_072674	412	P → L in CLN7. 1 PublicationCorresponds to variant dbSNP:rs267607235EnsemblClinVar.	1
Natural variantⁱVAR_037180	429	G → D in CLN7; lysosomal localization. 1 PublicationCorresponds to variant dbSNP:rs118203976EnsemblClinVar.	1
Natural variantⁱVAR_058432	447	P → L in CLN7. 1 Publication	1
Natural variantⁱVAR_066917	458	T → K in CLN7. 1 Publication	1
Natural variantⁱVAR_066918	465	R → Q in CLN7. 1 PublicationCorresponds to variant dbSNP:rs1275962600Ensembl.	1
Natural variantⁱVAR_058433	465	R → W in CLN7. 1 PublicationCorresponds to variant dbSNP:rs1043984708Ensembl.	1
Natural variantⁱVAR_066919	470	M → 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 key	Position(s)	DescriptionActions	Graphical view	Length
Natural variantⁱVAR_072673	336	E → 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
GeneReviewsⁱ	MFSD8
MalaCards human disease database More...MalaCardsⁱ	MFSD8
MIMⁱ	610951, phenotype 616170, phenotype
Open Targets More...OpenTargetsⁱ	ENSG00000164073
Orphanetⁱ	228366, CLN7 disease
PharmGKBⁱ	PA162395842

Miscellaneous databases

Pharosⁱ	Q8NHS3, Tbio

Pharosⁱ

Q8NHS3, Tbio

Polymorphism and mutation databases

BioMutaⁱ	MFSD8
DMDMⁱ	74730313

PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	DescriptionActions	Graphical view	Length
ChainⁱPRO_0000311232	1 – 518	Major facilitator superfamily domain-containing protein 8Add BLAST		518

Amino acid modifications

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Glycosylationⁱ	371	N-linked (GlcNAc...) asparagine1 Publication		1
Glycosylationⁱ	376	N-linked (GlcNAc...) asparagine1 Publication		1

Keywords - PTMⁱ

Glycoprotein

Proteomic databases

EPDⁱ	Q8NHS3
jPOSTⁱ	Q8NHS3
MassIVEⁱ	Q8NHS3
MaxQB - The MaxQuant DataBase More...MaxQBⁱ	Q8NHS3
PaxDbⁱ	Q8NHS3
PeptideAtlas More...PeptideAtlasⁱ	Q8NHS3
PRIDEⁱ	Q8NHS3
ProteomicsDBⁱ	6392 73747 [Q8NHS3-1]

PTM databases

GlyGenⁱ	Q8NHS3, 2 sites
iPTMnetⁱ	Q8NHS3
PhosphoSitePlusⁱ	Q8NHS3

Expressionⁱ

Tissue specificityⁱ

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

Gene expression databases

Bgeeⁱ	ENSG00000164073, Expressed in small intestine Peyer's patch and 212 other tissues
ExpressionAtlasⁱ	Q8NHS3, baseline and differential
Genevisibleⁱ	Q8NHS3, HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	ENSG00000164073, Low tissue specificity

HPAⁱ

ENSG00000164073, Low tissue specificity

Interactionⁱ

Protein-protein interaction databases

BioGRIDⁱ	129168, 28 interactors
IntActⁱ	Q8NHS3, 25 interactors
STRINGⁱ	9606.ENSP00000296468

Miscellaneous databases

RNActⁱ	Q8NHS3, protein

RNActⁱ

Q8NHS3, protein

Family & Domainsⁱ

Motif

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Motifⁱ	13 – 14	Dileucine internalization motif		2

Sequence similaritiesⁱ

Belongs to the major facilitator superfamily.Curated

Keywords - Domainⁱ

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGⁱ	KOG2325, Eukaryota
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00530000063854
HOGENOMⁱ	CLU_1712618_0_0_1
InParanoidⁱ	Q8NHS3
OMAⁱ	DAGKEFM
Database of Orthologous Groups More...OrthoDBⁱ	685352at2759
PhylomeDBⁱ	Q8NHS3
TreeFamⁱ	TF316590

Family and domain databases

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
SUPFAMⁱ	SSF103473, SSF103473, 1 hit
PROSITEⁱ	View protein in PROSITE PS50850, MFS, 1 hit

Sequences (2+)ⁱ

Sequence statusⁱ: Complete.

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

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

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

This isoform has been chosen as the 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

Checksum:ⁱ105A5F6A35B2291F

GO

Isoform 2 (identifier: Q8NHS3-2) [UniParc]FASTA Add 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.

« Hide

        10         20         30         40         50
MFLSSVGFSV VMMSIWPYLQ KIDPTADTSF LGWVIASYSL GQMVASPIFG 
        60         70         80         90        100
LWSNYRPRKE PLIVSILISV AANCLYAYLH IPASHNKYYM LVARGLLGIG 
       110        120        130        140        150
AVFQTCFTFL GEKGVTWDVI KLQINMYTTP VLLSAFLGIL NIILILAILS 

KYR

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

Computationally mapped potential isoform sequencesⁱ

There are 33 potential isoforms mapped to this entry.BLAST Align Show all Add to basket

	Entry	Entry name	Protein names	Gene names	Length	Annotation

	A0A286YEW8	A0A286YEW8_HUMAN	Major facilitator superfamily domai... Major facilitator superfamily domain-containing protein 8	MFSD8 MGC33302, hCG_1778573	451	Annotation score:
	A0A286YFI8	A0A286YFI8_HUMAN	Major facilitator superfamily domai... Major facilitator superfamily domain-containing protein 8	MFSD8 MGC33302, hCG_1778573	480	Annotation score:
	A0A286YF73	A0A286YF73_HUMAN	Major facilitator superfamily domai... Major facilitator superfamily domain-containing protein 8	MFSD8	336	Annotation score:
	A0A286YFM2	A0A286YFM2_HUMAN	Major facilitator superfamily domai... Major facilitator superfamily domain-containing protein 8	MFSD8	269	Annotation score:
	A0A286YF72	A0A286YF72_HUMAN	Major facilitator superfamily domai... Major facilitator superfamily domain-containing protein 8	MFSD8	298	Annotation score:
	A0A286YFF1	A0A286YFF1_HUMAN	Major facilitator superfamily domai... Major facilitator superfamily domain-containing protein 8	MFSD8	413	Annotation score:
	A0A286YEV4	A0A286YEV4_HUMAN	Major facilitator superfamily domai... Major facilitator superfamily domain-containing protein 8	MFSD8	254	Annotation score:
	A0A286YF51	A0A286YF51_HUMAN	Major facilitator superfamily domai... Major facilitator superfamily domain-containing protein 8	MFSD8	288	Annotation score:
	A0A286YFE6	A0A286YFE6_HUMAN	Major facilitator superfamily domai... Major facilitator superfamily domain-containing protein 8	MFSD8	145	Annotation score:
	A0A286YFE7	A0A286YFE7_HUMAN	Major facilitator superfamily domai... Major facilitator superfamily domain-containing protein 8	MFSD8	237	Annotation score:
There are more potential isoformsShow all

Experimental Info

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Sequence conflictⁱ	189	C → Y in BAC11062 (PubMed:14702039).Curated		1
Sequence conflictⁱ	487	L → R in BAC11062 (PubMed:14702039).Curated		1

Natural variant

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_058427	52	G → R in CLN7. 1 PublicationCorresponds to variant dbSNP:rs779838200Ensembl.	1
Natural variantⁱVAR_037176	109	V → G. Corresponds to variant dbSNP:rs11732377Ensembl.	1
Natural variantⁱVAR_058428	121	Y → C in CLN7. 1 PublicationCorresponds to variant dbSNP:rs118203978EnsemblClinVar.	1
Natural variantⁱVAR_058429	139	R → H in CLN7. 1 PublicationCorresponds to variant dbSNP:rs749704755EnsemblClinVar.	1
Natural variantⁱVAR_058430	157	A → P in CLN7; due to a deletion-insertion mutation at nucleotide level. 2 Publications	1
Natural variantⁱVAR_066915	160	T → I in CLN7. 1 PublicationCorresponds to variant dbSNP:rs1162750836Ensembl.	1
Natural variantⁱVAR_066916	160	T → N in CLN7. 1 Publication	1
Natural variantⁱVAR_058431	294	T → K in CLN7. 3 PublicationsCorresponds to variant dbSNP:rs140948465EnsemblClinVar.	1
Natural variantⁱVAR_037177	310	G → D in CLN7; lysosomal localization. 3 PublicationsCorresponds to variant dbSNP:rs118203975EnsemblClinVar.	1
Natural variantⁱVAR_072673	336	E → Q in CCMD. 1 PublicationCorresponds to variant dbSNP:rs150418024EnsemblClinVar.	1
Natural variantⁱVAR_037178	385	G → R. Corresponds to variant dbSNP:rs11098943EnsemblClinVar.	1
Natural variantⁱVAR_072674	412	P → L in CLN7. 1 PublicationCorresponds to variant dbSNP:rs267607235EnsemblClinVar.	1
Natural variantⁱVAR_037179	423	A → V1 PublicationCorresponds to variant dbSNP:rs3733319EnsemblClinVar.	1
Natural variantⁱVAR_037180	429	G → D in CLN7; lysosomal localization. 1 PublicationCorresponds to variant dbSNP:rs118203976EnsemblClinVar.	1
Natural variantⁱVAR_058432	447	P → L in CLN7. 1 Publication	1
Natural variantⁱVAR_066917	458	T → K in CLN7. 1 Publication	1
Natural variantⁱVAR_066918	465	R → Q in CLN7. 1 PublicationCorresponds to variant dbSNP:rs1275962600Ensembl.	1
Natural variantⁱVAR_058433	465	R → W in CLN7. 1 PublicationCorresponds to variant dbSNP:rs1043984708Ensembl.	1
Natural variantⁱVAR_066919	470	M → V in CLN7. 1 PublicationCorresponds to variant dbSNP:rs764549054EnsemblClinVar.	1

Alternative sequence

Feature key	Position(s)	DescriptionActions	Length
Alternative sequenceⁱVSP_057054	1 – 45	Missing in isoform 2. 1 PublicationAdd BLAST	45
Alternative sequenceⁱVSP_057055	147 – 184	Missing in isoform 2. 1 PublicationAdd BLAST	38
Alternative sequenceⁱVSP_057056	233 – 236	REHR → SKYR in isoform 2. 1 Publication	4
Alternative sequenceⁱVSP_057057	237 – 518	Missing in isoform 2. 1 PublicationAdd BLAST	282

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
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

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]
GeneIDⁱ	256471
KEGGⁱ	hsa:256471
UCSC genome browser More...UCSCⁱ	uc003ifp.4, human [Q8NHS3-1]

Keywords - Coding sequence diversityⁱ

Alternative splicing, Polymorphism

Similar proteinsⁱ

100% Identity
90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
Q8NHS3	Major facilitator superfamily domain-containing protein 8		HUMAN		473	UniRef100_Q8NHS3
Q8NHS3-2	Major facilitator superfamily domain-containing protein 8		HUMAN		198	UniRef100_A0A286YEW7

Protein	Similar proteins		Species	Score	Length	Source
Q8NHS3	Major facilitator superfamily domain-containing protein 8		HUMAN		473	UniRef90_Q8NHS3
major facilitator superfamily domain-containing protein 8 isoform X1		SAPAP		560
MFS domain-containing protein		Cebus capucinus imitator		560
MFS domain-containing protein		CALJA		532
MFS domain-containing protein		PROCO		519
+88
Q8NHS3-2	Major facilitator superfamily domain-containing protein 8		HUMAN		198	UniRef90_A0A286YEW7
MFSD8 isoform 35		PONAB		198
MFSD8 isoform 6		PANTR		198
MFSD8 isoform 4		PONAB		153
MFSD8 isoform 10		PANTR		153

Protein	Similar proteins		Species	Score	Length	Source
Q8NHS3	Major facilitator superfamily domain-containing protein 8		HUMAN		473	UniRef50_Q8NHS3
MFS domain-containing protein		Cebus capucinus imitator		560
major facilitator superfamily domain-containing protein 8 isoform X1		SAPAP		560
MFS domain-containing protein		CALJA		532
Major facilitator superfamily domain containing 8		OTOGA		519
+351
Q8NHS3-2	Major facilitator superfamily domain-containing protein 8		HUMAN		198	UniRef50_A0A286YEW7
MFSD8 isoform 6		PANTR		198
MFSD8 isoform 35		PONAB		198
MFSD8 isoform 10		PANTR		153
MFSD8 isoform 4		PONAB		153
+7

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
CCDSⁱ	CCDS3736.1 [Q8NHS3-1]
RefSeqⁱ	NP_689991.1, NM_152778.2 [Q8NHS3-1] XP_005262950.1, XM_005262893.1

3D structure databases

ModBaseⁱ	Search...
SWISS-MODEL-Workspaceⁱ	Submit a new modelling project...

Protein-protein interaction databases

BioGRIDⁱ	129168, 28 interactors
IntActⁱ	Q8NHS3, 25 interactors
STRINGⁱ	9606.ENSP00000296468

Protein family/group databases

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

TCDBⁱ

2.A.1.2.56, the major facilitator superfamily (mfs)

PTM databases

GlyGenⁱ	Q8NHS3, 2 sites
iPTMnetⁱ	Q8NHS3
PhosphoSitePlusⁱ	Q8NHS3

Polymorphism and mutation databases

BioMutaⁱ	MFSD8
DMDMⁱ	74730313

Proteomic databases

EPDⁱ	Q8NHS3
jPOSTⁱ	Q8NHS3
MassIVEⁱ	Q8NHS3
MaxQBⁱ	Q8NHS3
PaxDbⁱ	Q8NHS3
PeptideAtlasⁱ	Q8NHS3
PRIDEⁱ	Q8NHS3
ProteomicsDBⁱ	6392 73747 [Q8NHS3-1]

Protocols and materials databases

Antibodypediaⁱ	45354, 58 antibodies
The DNASU plasmid repository More...DNASUⁱ	256471

Genome annotation databases

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]
GeneIDⁱ	256471
KEGGⁱ	hsa:256471
UCSCⁱ	uc003ifp.4, human [Q8NHS3-1]

Organism-specific databases

CTDⁱ	256471
DisGeNETⁱ	256471
EuPathDBⁱ	HostDB:ENSG00000164073.9
GeneCardsⁱ	MFSD8
GeneReviewsⁱ	MFSD8
HGNCⁱ	HGNC:28486, MFSD8
HPAⁱ	ENSG00000164073, Low tissue specificity
MalaCardsⁱ	MFSD8
MIMⁱ	610951, phenotype 611124, gene 616170, phenotype
neXtProtⁱ	NX_Q8NHS3
OpenTargetsⁱ	ENSG00000164073
Orphanetⁱ	228366, CLN7 disease
PharmGKBⁱ	PA162395842
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	KOG2325, Eukaryota
GeneTreeⁱ	ENSGT00530000063854
HOGENOMⁱ	CLU_1712618_0_0_1
InParanoidⁱ	Q8NHS3
OMAⁱ	DAGKEFM
OrthoDBⁱ	685352at2759
PhylomeDBⁱ	Q8NHS3
TreeFamⁱ	TF316590

Enzyme and pathway databases

PathwayCommonsⁱ	Q8NHS3

PathwayCommonsⁱ

Q8NHS3

Miscellaneous databases

BioGRID-ORCSⁱ	256471, 7 hits in 847 CRISPR screens
ChiTaRSⁱ	MFSD8, human
GeneWikiⁱ	MFSD8
GenomeRNAiⁱ	256471
Pharosⁱ	Q8NHS3, Tbio
Protein Ontology More...PROⁱ	PR:Q8NHS3
RNActⁱ	Q8NHS3, protein
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000164073, Expressed in small intestine Peyer's patch and 212 other tissues
ExpressionAtlasⁱ	Q8NHS3, baseline and differential
Genevisibleⁱ	Q8NHS3, HS

Family and domain databases

InterProⁱ	View protein in InterPro IPR011701, MFS IPR020846, MFS_dom IPR036259, MFS_trans_sf
Pfamⁱ	View protein in Pfam PF07690, MFS_1, 1 hit
SUPFAMⁱ	SSF103473, SSF103473, 1 hit
PROSITEⁱ	View protein in PROSITE PS50850, MFS, 1 hit
ProtoNetⁱ	Search...
MobiDBⁱ	Search...

Entry informationⁱ

Entry nameⁱ	MFSD8_HUMAN
Accessionⁱ	Q8NHS3Primary (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:	December 2, 2020
	This is version 152 of the entry and version 1 of the sequence. See complete history.
Entry statusⁱ	Reviewed (UniProtKB/Swiss-Prot)
Annotation program	Chordata Protein Annotation Program
Disclaimer	Any 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

Reference proteome

Documents

Human chromosome 4
Human chromosome 4: entries, gene names and cross-references to MIM
Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations
MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
SIMILARITY comments
Index of protein domains and families
Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations

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UniProtKB - Q8NHS3 (MFSD8_HUMAN)

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Major facilitator superfamily domain-containing protein 8

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<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

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Functionⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Keywords - Cellular componentⁱ

Pathology & Biotechⁱ

Keywords - Diseaseⁱ

PTM / Processingⁱ

Keywords - PTMⁱ

Expressionⁱ

Interactionⁱ

Family & Domainsⁱ

Sequence similaritiesⁱ

Keywords - Domainⁱ

Keywords - Coding sequence diversityⁱ

Cross-referencesⁱ

Web resourcesⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ