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Q6UXD7

- MFSD7_HUMAN

UniProt

Q6UXD7 - MFSD7_HUMAN

Protein

Major facilitator superfamily domain-containing protein 7

Gene

MFSD7

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 2 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 77 (01 Oct 2014)
      Sequence version 1 (05 Jul 2004)
      Previous versions | rss
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    Functioni

    GO - Biological processi

    1. transmembrane transport Source: InterPro

    Keywords - Biological processi

    Transport

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Major facilitator superfamily domain-containing protein 7
    Alternative name(s):
    Myosin light polypeptide 5 regulatory protein
    Short name:
    MYL5
    Gene namesi
    Name:MFSD7
    ORF Names:LP2561, UNQ385/PRO717
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 4

    Organism-specific databases

    HGNCiHGNC:26177. MFSD7.

    Subcellular locationi

    GO - Cellular componenti

    1. integral component of membrane Source: UniProtKB-KW

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA143485534.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 560560Major facilitator superfamily domain-containing protein 7PRO_0000273408Add
    BLAST

    Proteomic databases

    PaxDbiQ6UXD7.
    PRIDEiQ6UXD7.

    Expressioni

    Gene expression databases

    ArrayExpressiQ6UXD7.
    BgeeiQ6UXD7.
    CleanExiHS_MFSD7.
    GenevestigatoriQ6UXD7.

    Organism-specific databases

    HPAiHPA043593.

    Interactioni

    Protein-protein interaction databases

    STRINGi9606.ENSP00000320234.

    Structurei

    3D structure databases

    ProteinModelPortaliQ6UXD7.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei30 – 5021HelicalSequence AnalysisAdd
    BLAST
    Transmembranei70 – 9021HelicalSequence AnalysisAdd
    BLAST
    Transmembranei100 – 12021HelicalSequence AnalysisAdd
    BLAST
    Transmembranei125 – 14521HelicalSequence AnalysisAdd
    BLAST
    Transmembranei166 – 18621HelicalSequence AnalysisAdd
    BLAST
    Transmembranei192 – 21221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei250 – 27021HelicalSequence AnalysisAdd
    BLAST
    Transmembranei282 – 30221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei318 – 33821HelicalSequence AnalysisAdd
    BLAST
    Transmembranei341 – 36121HelicalSequence AnalysisAdd
    BLAST
    Transmembranei379 – 39921HelicalSequence AnalysisAdd
    BLAST
    Transmembranei422 – 44221HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the major facilitator superfamily.Curated

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG297699.
    HOGENOMiHOG000251610.
    HOVERGENiHBG079844.
    InParanoidiQ6UXD7.
    KOiK12306.
    OMAiEQILCAS.
    OrthoDBiEOG7JQBND.
    PhylomeDBiQ6UXD7.
    TreeFamiTF314292.

    Family and domain databases

    InterProiIPR011701. MFS.
    IPR016196. MFS_dom_general_subst_transpt.
    [Graphical view]
    PfamiPF07690. MFS_1. 1 hit.
    [Graphical view]
    SUPFAMiSSF103473. SSF103473. 1 hit.

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q6UXD7-1) [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

    MAGPTEAETG LAEPRALCAQ RGHRTYARRW VFLLAISLLN CSNATLWLSF    50
    APVADVIAED LVLSMEQINW LSLVYLVVST PFGVAAIWIL DSVGLRAATI 100
    LGAWLNFAGS VLRMVPCMVV GTQNPFAFLM GGQSLCALAQ SLVIFSPAKL 150
    AALWFPEHQR ATANMLATMS NPLGVLVANV LSPVLVKKGE DIPLMLGVYT 200
    IPAGVVCLLS TICLWESVPP TPPSAGAASS TSEKFLDGLK LQLMWNKAYV 250
    ILAVCLGGMI GISASFSALL EQILCASGHS SGFSGLCGAL FITFGILGAL 300
    ALGPYVDRTK HFTEATKIGL CLFSLACVPF ALVSQLQGQT LALAATCSLL 350
    GLFGFSVGPV AMELAVECSF PVGEGAATGM IFVLGQAEGI LIMLAMTALT 400
    VRRSEPSLST CQQGEDPLDW TVSLLLMAGL CTFFSCILAV FFHTPYRRLQ 450
    AESGEPPSTR NAVGGADSGP GVDRGGAGRA GVLGPSTATP ECTARGASLE 500
    DPRGPGSPHP ACHRATPRAQ GPAATDAPSR PGRLAGRVQA SRFIDPAGSH 550
    SSFSSPWVIT 560
    Length:560
    Mass (Da):58,427
    Last modified:July 5, 2004 - v1
    Checksum:i41848AAEB46601A4
    GO
    Isoform 2 (identifier: Q6UXD7-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         242-242: Missing.

    Show »
    Length:559
    Mass (Da):58,299
    Checksum:iB4F93FD1722B4CA2
    GO
    Isoform 3 (identifier: Q6UXD7-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         46-67: Missing.
         99-195: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:441
    Mass (Da):45,719
    Checksum:iCB8FA4AE3EDDE78D
    GO

    Sequence cautioni

    The sequence AAP34459.1 differs from that shown. Reason: Intron retention.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti241 – 2411L → P in BAB15283. (PubMed:14702039)Curated
    Sequence conflicti406 – 4061P → L in BAB15283. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti170 – 1701S → P.
    Corresponds to variant rs11558585 [ dbSNP | Ensembl ].
    VAR_030144

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei46 – 6722Missing in isoform 3. 1 PublicationVSP_022547Add
    BLAST
    Alternative sequencei99 – 19597Missing in isoform 3. 1 PublicationVSP_022548Add
    BLAST
    Alternative sequencei242 – 2421Missing in isoform 2. 2 PublicationsVSP_022549

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY358401 mRNA. Translation: AAQ88767.1.
    AK025922 mRNA. Translation: BAB15283.1.
    AK292010 mRNA. Translation: BAF84699.1.
    BC030246 mRNA. Translation: AAH30246.1.
    AY203936 mRNA. Translation: AAP34459.1. Sequence problems.
    CCDSiCCDS3338.1. [Q6UXD7-2]
    RefSeqiNP_115595.2. NM_032219.2. [Q6UXD7-2]
    XP_005272352.1. XM_005272295.1. [Q6UXD7-1]
    UniGeneiHs.567612.

    Genome annotation databases

    EnsembliENST00000322224; ENSP00000320234; ENSG00000169026. [Q6UXD7-2]
    ENST00000347950; ENSP00000307545; ENSG00000169026. [Q6UXD7-3]
    ENST00000404286; ENSP00000384616; ENSG00000169026. [Q6UXD7-1]
    GeneIDi84179.
    KEGGihsa:84179.
    UCSCiuc003gaw.3. human. [Q6UXD7-1]
    uc003gax.3. human. [Q6UXD7-2]
    uc003gaz.3. human. [Q6UXD7-3]

    Polymorphism databases

    DMDMi74738207.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY358401 mRNA. Translation: AAQ88767.1 .
    AK025922 mRNA. Translation: BAB15283.1 .
    AK292010 mRNA. Translation: BAF84699.1 .
    BC030246 mRNA. Translation: AAH30246.1 .
    AY203936 mRNA. Translation: AAP34459.1 . Sequence problems.
    CCDSi CCDS3338.1. [Q6UXD7-2 ]
    RefSeqi NP_115595.2. NM_032219.2. [Q6UXD7-2 ]
    XP_005272352.1. XM_005272295.1. [Q6UXD7-1 ]
    UniGenei Hs.567612.

    3D structure databases

    ProteinModelPortali Q6UXD7.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000320234.

    Polymorphism databases

    DMDMi 74738207.

    Proteomic databases

    PaxDbi Q6UXD7.
    PRIDEi Q6UXD7.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000322224 ; ENSP00000320234 ; ENSG00000169026 . [Q6UXD7-2 ]
    ENST00000347950 ; ENSP00000307545 ; ENSG00000169026 . [Q6UXD7-3 ]
    ENST00000404286 ; ENSP00000384616 ; ENSG00000169026 . [Q6UXD7-1 ]
    GeneIDi 84179.
    KEGGi hsa:84179.
    UCSCi uc003gaw.3. human. [Q6UXD7-1 ]
    uc003gax.3. human. [Q6UXD7-2 ]
    uc003gaz.3. human. [Q6UXD7-3 ]

    Organism-specific databases

    CTDi 84179.
    GeneCardsi GC04M000675.
    HGNCi HGNC:26177. MFSD7.
    HPAi HPA043593.
    neXtProti NX_Q6UXD7.
    PharmGKBi PA143485534.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG297699.
    HOGENOMi HOG000251610.
    HOVERGENi HBG079844.
    InParanoidi Q6UXD7.
    KOi K12306.
    OMAi EQILCAS.
    OrthoDBi EOG7JQBND.
    PhylomeDBi Q6UXD7.
    TreeFami TF314292.

    Miscellaneous databases

    GenomeRNAii 84179.
    NextBioi 73553.
    PROi Q6UXD7.

    Gene expression databases

    ArrayExpressi Q6UXD7.
    Bgeei Q6UXD7.
    CleanExi HS_MFSD7.
    Genevestigatori Q6UXD7.

    Family and domain databases

    InterProi IPR011701. MFS.
    IPR016196. MFS_dom_general_subst_transpt.
    [Graphical view ]
    Pfami PF07690. MFS_1. 1 hit.
    [Graphical view ]
    SUPFAMi SSF103473. SSF103473. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    2. "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 2 AND 3).
      Tissue: Spleen.
    3. "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 2).
      Tissue: Leukocyte.
    4. "Large-scale cDNA transfection screening for genes related to cancer development and progression."
      Wan D., Gong Y., Qin W., Zhang P., Li J., Wei L., Zhou X., Li H., Qiu X., Zhong F., He L., Yu J., Yao G., Jiang H., Qian L., Yu Y., Shu H., Chen X.
      , Xu H., Guo M., Pan Z., Chen Y., Ge C., Yang S., Gu J.
      Proc. Natl. Acad. Sci. U.S.A. 101:15724-15729(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 196-560 (ISOFORMS 1/3).

    Entry informationi

    Entry nameiMFSD7_HUMAN
    AccessioniPrimary (citable) accession number: Q6UXD7
    Secondary accession number(s): A8K7J5
    , Q6XYD4, Q8N6H1, Q9H6H6
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: January 23, 2007
    Last sequence update: July 5, 2004
    Last modified: October 1, 2014
    This is version 77 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. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3