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Q8NHS3

- MFSD8_HUMAN

UniProt

Q8NHS3 - MFSD8_HUMAN

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Protein

Major facilitator superfamily domain-containing protein 8

Gene

MFSD8

Organism
Homo sapiens (Human)
Status
Reviewed - 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

  1. cell death Source: UniProtKB-KW
  2. transmembrane transport Source: InterPro
Complete GO annotation...

Keywords - Biological processi

Transport

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
ProteomesiUP000005640: Chromosome 4

Organism-specific databases

HGNCiHGNC:28486. MFSD8.

Subcellular locationi

Lysosome membrane 3 Publications; Multi-pass membrane protein 3 Publications
Note: Sorting to lysosomes involves tyrosine- and/or dileucine-based motifs.

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 4040CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei41 – 6121HelicalSequence AnalysisAdd
BLAST
Topological domaini62 – 7413ExtracellularSequence AnalysisAdd
BLAST
Transmembranei75 – 9521HelicalSequence AnalysisAdd
BLAST
Topological domaini96 – 10510CytoplasmicSequence Analysis
Transmembranei106 – 12621HelicalSequence AnalysisAdd
BLAST
Topological domaini127 – 1315ExtracellularSequence Analysis
Transmembranei132 – 15221HelicalSequence AnalysisAdd
BLAST
Topological domaini153 – 17321CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei174 – 19421HelicalSequence AnalysisAdd
BLAST
Topological domaini195 – 21117ExtracellularSequence AnalysisAdd
BLAST
Transmembranei212 – 23221HelicalSequence AnalysisAdd
BLAST
Topological domaini233 – 26634CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei267 – 28721HelicalSequence AnalysisAdd
BLAST
Topological domaini288 – 30417ExtracellularSequence AnalysisAdd
BLAST
Transmembranei305 – 32521HelicalSequence AnalysisAdd
BLAST
Topological domaini326 – 33712CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei338 – 35821HelicalSequence AnalysisAdd
BLAST
Topological domaini359 – 41254ExtracellularSequence AnalysisAdd
BLAST
Transmembranei413 – 43321HelicalSequence AnalysisAdd
BLAST
Topological domaini434 – 45118CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei452 – 47221HelicalSequence AnalysisAdd
BLAST
Topological domaini473 – 48210ExtracellularSequence Analysis
Transmembranei483 – 50321HelicalSequence AnalysisAdd
BLAST
Topological domaini504 – 51815CytoplasmicSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. integral component of membrane Source: UniProtKB-KW
  2. intracellular membrane-bounded organelle Source: HPA
  3. lysosomal membrane Source: UniProtKB
  4. nucleus Source: HPA
Complete GO annotation...

Keywords - Cellular componenti

Lysosome, Membrane

Pathology & Biotechi

Involvement in diseasei

Ceroid lipofuscinosis, neuronal, 7 (CLN7) [MIM:610951]: A form of neuronal ceroid lipofuscinosis with onset in early childhood. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. The lipopigment patterns observed most often in neuronal ceroid lipofuscinosis type 7 comprise mixed combinations of granular, curvilinear, fingerprint, and rectilinear profiles.5 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti52 – 521G → R in CLN7. 1 Publication
VAR_058427
Natural varianti121 – 1211Y → C in CLN7. 1 Publication
VAR_058428
Natural varianti139 – 1391R → H in CLN7. 1 Publication
VAR_058429
Natural varianti157 – 1571A → P in CLN7; due to a deletion-insertion mutation at nucleotide level. 2 Publications
VAR_058430
Natural varianti160 – 1601T → I in CLN7. 1 Publication
VAR_066915
Natural varianti160 – 1601T → N in CLN7. 1 Publication
VAR_066916
Natural varianti294 – 2941T → K in CLN7. 2 Publications
VAR_058431
Natural varianti310 – 3101G → D in CLN7; lysosomal localization. 3 Publications
VAR_037177
Natural varianti429 – 4291G → D in CLN7; lysosomal localization. 1 Publication
VAR_037180
Natural varianti447 – 4471P → L in CLN7. 1 Publication
VAR_058432
Natural varianti458 – 4581T → K in CLN7. 1 Publication
VAR_066917
Natural varianti465 – 4651R → Q in CLN7. 1 Publication
VAR_066918
Natural varianti465 – 4651R → W in CLN7. 1 Publication
VAR_058433
Natural varianti470 – 4701M → V in CLN7. 1 Publication
VAR_066919

Keywords - Diseasei

Disease mutation, Neurodegeneration, Neuronal ceroid lipofuscinosis

Organism-specific databases

MIMi610951. phenotype.
Orphaneti228366. CLN7 disease.
PharmGKBiPA162395842.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 518518Major facilitator superfamily domain-containing protein 8PRO_0000311232Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi371 – 3711N-linked (GlcNAc...)1 Publication
Glycosylationi376 – 3761N-linked (GlcNAc...)1 Publication

Keywords - PTMi

Glycoprotein

Proteomic databases

MaxQBiQ8NHS3.
PaxDbiQ8NHS3.
PRIDEiQ8NHS3.

PTM databases

PhosphoSiteiQ8NHS3.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiQ8NHS3.
CleanExiHS_MFSD8.
ExpressionAtlasiQ8NHS3. baseline and differential.
GenevestigatoriQ8NHS3.

Organism-specific databases

HPAiHPA044802.

Interactioni

Protein-protein interaction databases

BioGridi129168. 6 interactions.
MINTiMINT-3043443.
STRINGi9606.ENSP00000296468.

Structurei

3D structure databases

ProteinModelPortaliQ8NHS3.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi13 – 142Dileucine internalization motif

Sequence similaritiesi

Belongs to the major facilitator superfamily.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG294425.
GeneTreeiENSGT00530000063854.
HOGENOMiHOG000047970.
HOVERGENiHBG061584.
InParanoidiQ8NHS3.
KOiK12307.
OMAiFEEASTD.
OrthoDBiEOG7M3J04.
PhylomeDBiQ8NHS3.
TreeFamiTF316590.

Family and domain databases

InterProiIPR011701. MFS.
IPR020846. MFS_dom.
IPR016196. MFS_dom_general_subst_transpt.
[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. Align

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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti189 – 1891C → Y in BAC11062. (PubMed:14702039)Curated
Sequence conflicti487 – 4871L → R in BAC11062. (PubMed:14702039)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti52 – 521G → R in CLN7. 1 Publication
VAR_058427
Natural varianti109 – 1091V → G.
Corresponds to variant rs11732377 [ dbSNP | Ensembl ].
VAR_037176
Natural varianti121 – 1211Y → C in CLN7. 1 Publication
VAR_058428
Natural varianti139 – 1391R → H in CLN7. 1 Publication
VAR_058429
Natural varianti157 – 1571A → P in CLN7; due to a deletion-insertion mutation at nucleotide level. 2 Publications
VAR_058430
Natural varianti160 – 1601T → I in CLN7. 1 Publication
VAR_066915
Natural varianti160 – 1601T → N in CLN7. 1 Publication
VAR_066916
Natural varianti294 – 2941T → K in CLN7. 2 Publications
VAR_058431
Natural varianti310 – 3101G → D in CLN7; lysosomal localization. 3 Publications
VAR_037177
Natural varianti385 – 3851G → R.
Corresponds to variant rs11098943 [ dbSNP | Ensembl ].
VAR_037178
Natural varianti423 – 4231A → V.1 Publication
Corresponds to variant rs3733319 [ dbSNP | Ensembl ].
VAR_037179
Natural varianti429 – 4291G → D in CLN7; lysosomal localization. 1 Publication
VAR_037180
Natural varianti447 – 4471P → L in CLN7. 1 Publication
VAR_058432
Natural varianti458 – 4581T → K in CLN7. 1 Publication
VAR_066917
Natural varianti465 – 4651R → Q in CLN7. 1 Publication
VAR_066918
Natural varianti465 – 4651R → W in CLN7. 1 Publication
VAR_058433
Natural varianti470 – 4701M → V in CLN7. 1 Publication
VAR_066919

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 4545Missing in isoform 2. 1 PublicationVSP_057054Add
BLAST
Alternative sequencei147 – 18438Missing in isoform 2. 1 PublicationVSP_057055Add
BLAST
Alternative sequencei233 – 2364REHR → SKYR in isoform 2. 1 PublicationVSP_057056
Alternative sequencei237 – 518282Missing in isoform 2. 1 PublicationVSP_057057Add
BLAST

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.
RefSeqiNP_689991.1. NM_152778.2.
XP_005262950.1. XM_005262893.1.
UniGeneiHs.480701.

Genome annotation databases

EnsembliENST00000296468; ENSP00000296468; ENSG00000164073. [Q8NHS3-1]
ENST00000509826; ENSP00000421176; ENSG00000164073. [Q8NHS3-2]
GeneIDi256471.
KEGGihsa:256471.
UCSCiuc003ifp.3. human. [Q8NHS3-1]

Polymorphism databases

DMDMi74730313.

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 .
CCDSi CCDS3736.1.
RefSeqi NP_689991.1. NM_152778.2.
XP_005262950.1. XM_005262893.1.
UniGenei Hs.480701.

3D structure databases

ProteinModelPortali Q8NHS3.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 129168. 6 interactions.
MINTi MINT-3043443.
STRINGi 9606.ENSP00000296468.

Protein family/group databases

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

PTM databases

PhosphoSitei Q8NHS3.

Polymorphism databases

DMDMi 74730313.

Proteomic databases

MaxQBi Q8NHS3.
PaxDbi Q8NHS3.
PRIDEi Q8NHS3.

Protocols and materials databases

DNASUi 256471.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000296468 ; ENSP00000296468 ; ENSG00000164073 . [Q8NHS3-1 ]
ENST00000509826 ; ENSP00000421176 ; ENSG00000164073 . [Q8NHS3-2 ]
GeneIDi 256471.
KEGGi hsa:256471.
UCSCi uc003ifp.3. human. [Q8NHS3-1 ]

Organism-specific databases

CTDi 256471.
GeneCardsi GC04M128838.
GeneReviewsi MFSD8.
HGNCi HGNC:28486. MFSD8.
HPAi HPA044802.
MIMi 610951. phenotype.
611124. gene.
neXtProti NX_Q8NHS3.
Orphaneti 228366. CLN7 disease.
PharmGKBi PA162395842.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG294425.
GeneTreei ENSGT00530000063854.
HOGENOMi HOG000047970.
HOVERGENi HBG061584.
InParanoidi Q8NHS3.
KOi K12307.
OMAi FEEASTD.
OrthoDBi EOG7M3J04.
PhylomeDBi Q8NHS3.
TreeFami TF316590.

Miscellaneous databases

GeneWikii MFSD8.
GenomeRNAii 256471.
NextBioi 92817.
PROi Q8NHS3.
SOURCEi Search...

Gene expression databases

Bgeei Q8NHS3.
CleanExi HS_MFSD8.
ExpressionAtlasi Q8NHS3. baseline and differential.
Genevestigatori Q8NHS3.

Family and domain databases

InterProi IPR011701. MFS.
IPR020846. MFS_dom.
IPR016196. MFS_dom_general_subst_transpt.
[Graphical view ]
Pfami PF07690. MFS_1. 1 hit.
[Graphical view ]
SUPFAMi SSF103473. SSF103473. 2 hits.
PROSITEi PS50850. MFS. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

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

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 26, 2014
This is version 106 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

External Data

Dasty 3