Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Basket 0
(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Q8NHS3

- MFSD8_HUMAN

UniProt

Q8NHS3 - MFSD8_HUMAN

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
    • BLAST
    • Align
    • Format
    • Add to basket
    • History
      Entry version 104 (01 Oct 2014)
      Sequence version 1 (01 Oct 2002)
      Previous versions | rss
    • Help video
    • Feedback
    • Comment

    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

    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.

    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

    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

    ArrayExpressiQ8NHS3.
    BgeeiQ8NHS3.
    CleanExiHS_MFSD8.
    GenevestigatoriQ8NHS3.

    Organism-specific databases

    HPAiHPA044802.

    Interactioni

    Protein-protein interaction databases

    BioGridi129168. 1 interaction.
    MINTiMINT-3043443.
    STRINGi9606.ENSP00000296468.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8NHS3.
    SMRiQ8NHS3. Positions 480-517.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 4040CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini62 – 7413ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini96 – 10510CytoplasmicSequence Analysis
    Topological domaini127 – 1315ExtracellularSequence Analysis
    Topological domaini153 – 17321CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini195 – 21117ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini233 – 26634CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini288 – 30417ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini326 – 33712CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini359 – 41254ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini434 – 45118CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini473 – 48210ExtracellularSequence Analysis
    Topological domaini504 – 51815CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei41 – 6121HelicalSequence AnalysisAdd
    BLAST
    Transmembranei75 – 9521HelicalSequence AnalysisAdd
    BLAST
    Transmembranei106 – 12621HelicalSequence AnalysisAdd
    BLAST
    Transmembranei132 – 15221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei174 – 19421HelicalSequence AnalysisAdd
    BLAST
    Transmembranei212 – 23221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei267 – 28721HelicalSequence AnalysisAdd
    BLAST
    Transmembranei305 – 32521HelicalSequence AnalysisAdd
    BLAST
    Transmembranei338 – 35821HelicalSequence AnalysisAdd
    BLAST
    Transmembranei413 – 43321HelicalSequence AnalysisAdd
    BLAST
    Transmembranei452 – 47221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei483 – 50321HelicalSequence AnalysisAdd
    BLAST

    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.
    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]

    Sequencei

    Sequence statusi: Complete.

    Q8NHS3-1 [UniParc]FASTAAdd to Basket

    « Hide

    MAGLRNESEQ EPLLGDTPGS REWDILETEE HYKSRWRSIR ILYLTMFLSS    50
    VGFSVVMMSI WPYLQKIDPT ADTSFLGWVI ASYSLGQMVA SPIFGLWSNY 100
    RPRKEPLIVS ILISVAANCL YAYLHIPASH NKYYMLVARG LLGIGAGNVA 150
    VVRSYTAGAT SLQERTSSMA NISMCQALGF ILGPVFQTCF TFLGEKGVTW 200
    DVIKLQINMY TTPVLLSAFL GILNIILILA ILREHRVDDS GRQCKSINFE 250
    EASTDEAQVP QGNIDQVAVV AINVLFFVTL FIFALFETII TPLTMDMYAW 300
    TQEQAVLYNG IILAALGVEA VVIFLGVKLL SKKIGERAIL LGGLIVVWVG 350
    FFILLPWGNQ FPKIQWEDLH NNSIPNTTFG EIIIGLWKSP MEDDNERPTG 400
    CSIEQAWCLY TPVIHLAQFL TSAVLIGLGY PVCNLMSYTL YSKILGPKPQ 450
    GVYMGWLTAS GSGARILGPM FISQVYAHWG PRWAFSLVCG IIVLTITLLG 500
    VVYKRLIALS VRYGRIQE 518
    Length:518
    Mass (Da):57,628
    Last modified:October 1, 2002 - v1
    Checksum:i105A5F6A35B2291F
    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

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK074564 mRNA. Translation: BAC11062.1.
    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.
    GeneIDi256471.
    KEGGihsa:256471.
    UCSCiuc003ifp.3. human.

    Polymorphism databases

    DMDMi74730313.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Web resourcesi

    NCL CLN7/MFSD8

    Neural Ceroid Lipofuscinoses mutation db

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK074564 mRNA. Translation: BAC11062.1 .
    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.
    SMRi Q8NHS3. Positions 480-517.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 129168. 1 interaction.
    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 .
    GeneIDi 256471.
    KEGGi hsa:256471.
    UCSCi uc003ifp.3. human.

    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.
    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

    ArrayExpressi Q8NHS3.
    Bgeei Q8NHS3.
    CleanExi HS_MFSD8.
    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

    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], VARIANT VAL-423.
      Tissue: 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].
      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, Q8N2P3
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 13, 2007
    Last sequence update: October 1, 2002
    Last modified: October 1, 2014
    This is version 104 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