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Q9H3U5

- MFSD1_HUMAN

UniProt

Q9H3U5 - MFSD1_HUMAN

Protein

Major facilitator superfamily domain-containing protein 1

Gene

MFSD1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 92 (01 Oct 2014)
      Sequence version 2 (23 Jan 2007)
      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 1
    Alternative name(s):
    Smooth muscle cell-associated protein 4
    Short name:
    SMAP-4
    Gene namesi
    Name:MFSD1
    Synonyms:SMAP4
    ORF Names:UG0581B09
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 3

    Organism-specific databases

    HGNCiHGNC:25874. MFSD1.

    Subcellular locationi

    GO - Cellular componenti

    1. integral component of membrane Source: UniProtKB-KW

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA134947356.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 465465Major facilitator superfamily domain-containing protein 1PRO_0000273382Add
    BLAST

    Proteomic databases

    MaxQBiQ9H3U5.
    PaxDbiQ9H3U5.
    PRIDEiQ9H3U5.

    PTM databases

    PhosphoSiteiQ9H3U5.

    Expressioni

    Gene expression databases

    ArrayExpressiQ9H3U5.
    BgeeiQ9H3U5.
    CleanExiHS_MFSD1.
    GenevestigatoriQ9H3U5.

    Interactioni

    Protein-protein interaction databases

    BioGridi122263. 1 interaction.
    MINTiMINT-4723047.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9H3U5.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei39 – 5921HelicalSequence AnalysisAdd
    BLAST
    Transmembranei83 – 10321HelicalSequence AnalysisAdd
    BLAST
    Transmembranei113 – 13321HelicalSequence AnalysisAdd
    BLAST
    Transmembranei135 – 15521HelicalSequence AnalysisAdd
    BLAST
    Transmembranei213 – 23321HelicalSequence AnalysisAdd
    BLAST
    Transmembranei266 – 28621HelicalSequence AnalysisAdd
    BLAST
    Transmembranei303 – 32321HelicalSequence AnalysisAdd
    BLAST
    Transmembranei331 – 35121HelicalSequence AnalysisAdd
    BLAST
    Transmembranei361 – 38121HelicalSequence AnalysisAdd
    BLAST
    Transmembranei392 – 41221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei418 – 43821HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the major facilitator superfamily.Curated

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG0477.
    HOVERGENiHBG081969.
    InParanoidiQ9H3U5.
    OMAiIKFSHTE.
    PhylomeDBiQ9H3U5.
    TreeFamiTF323603.

    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. 1 hit.
    PROSITEiPS50850. MFS. 1 hit.
    [Graphical view]

    Sequences (6)i

    Sequence statusi: Complete.

    This entry describes 6 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9H3U5-1) [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

    MEEEDEEARA LLAGGPDEAD RGAPAAPGAL PALCDPSRLA HRLLVLLLMC    50
    FLGFGSYFCY DNPAALQTQV KRDMQVNTTK FMLLYAWYSW PNVVLCFFGG 100
    FLIDRVFGIR WGTIIFSCFV CIGQVVFALG GIFNAFWLME FGRFVFGIGG 150
    ESLAVAQNTY AVSWFKGKEL NLVFGLQLSM ARIGSTVNMN LMGWLYSKIE 200
    ALLGSAGHTT LGITLMIGGI TCILSLICAL ALAYLDQRAE RILHKEQGKT 250
    GEVIKLTDVK DFSLPLWLIF IICVCYYVAV FPFIGLGKVF FTEKFGFSSQ 300
    AASAINSVVY VISAPMSPVF GLLVDKTGKN IIWVLCAVAA TLVSHMMLAF 350
    TMWNPWIAMC LLGLSYSLLA CALWPMVAFV VPEHQLGTAY GFMQSIQNLG 400
    LAIISIIAGM ILDSRGYLFL EVFFIACVSL SLLSVVLLYL VNRAQGGNLN 450
    YSARQREEIK FSHTE 465
    Length:465
    Mass (Da):51,209
    Last modified:January 23, 2007 - v2
    Checksum:i24D53BDE6D1CCA26
    GO
    Isoform 2 (identifier: Q9H3U5-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         73-78: DMQVNT → MGHNHF
         79-465: Missing.

    Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

    Show »
    Length:78
    Mass (Da):8,458
    Checksum:iD51DAB16AA4142A8
    GO
    Isoform 3 (identifier: Q9H3U5-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         55-110: GSYFCYDNPAALQTQVKRDMQVNTTKFMLLYAWYSWPNVVLCFFGGFLIDRVFGIR → AIFAMIILLPFRLKLDE

    Show »
    Length:426
    Mass (Da):46,619
    Checksum:i067A11DF7E19FF70
    GO
    Isoform 4 (identifier: Q9H3U5-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-73: Missing.

    Show »
    Length:392
    Mass (Da):43,378
    Checksum:i0EEA53DEA5449FD4
    GO
    Isoform 5 (identifier: Q9H3U5-5) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-1: M → MGVALRDLPGRHVSSRSHVTAVLTVFHGRCFLPGFGVVTTFPSPSPAGAM
         55-110: GSYFCYDNPAALQTQVKRDMQVNTTKFMLLYAWYSWPNVVLCFFGGFLIDRVFGIR → AIFAMIILLPFRLKLNE

    Show »
    Length:475
    Mass (Da):51,691
    Checksum:iD8BD41951D5D8F71
    GO
    Isoform 6 (identifier: Q9H3U5-6) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-1: M → MGVALRDLPGRHVSSRSHVTAVLTVFHGRCFLPGFGVVTTFPSPSPAGAM

    Show »
    Length:514
    Mass (Da):56,281
    Checksum:i01FBF7179429E6AD
    GO

    Sequence cautioni

    The sequence AAN76517.2 differs from that shown. Reason: Aberrant splicing.
    The sequence BAB20269.1 differs from that shown. Reason: Frameshift at positions 289, 296 and 305.
    The sequence BAG59980.1 differs from that shown. Reason: Erroneous initiation.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti275 – 2751C → R in BAB20269. 1 PublicationCurated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti24 – 241P → S.1 Publication
    Corresponds to variant rs28364680 [ dbSNP | Ensembl ].
    VAR_030138
    Natural varianti168 – 1681K → E.1 Publication
    Corresponds to variant rs17854200 [ dbSNP | Ensembl ].
    VAR_030139
    Natural varianti220 – 2201I → V.2 Publications
    Corresponds to variant rs3765083 [ dbSNP | Ensembl ].
    VAR_030140
    Natural varianti271 – 2711I → T.
    Corresponds to variant rs11551240 [ dbSNP | Ensembl ].
    VAR_059466

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 7373Missing in isoform 4. 1 PublicationVSP_037578Add
    BLAST
    Alternative sequencei1 – 11M → MGVALRDLPGRHVSSRSHVT AVLTVFHGRCFLPGFGVVTT FPSPSPAGAM in isoform 5 and isoform 6. CuratedVSP_047667
    Alternative sequencei55 – 11056GSYFC…VFGIR → AIFAMIILLPFRLKLDE in isoform 3. 1 PublicationVSP_037579Add
    BLAST
    Alternative sequencei55 – 11056GSYFC…VFGIR → AIFAMIILLPFRLKLNE in isoform 5. CuratedVSP_047668Add
    BLAST
    Alternative sequencei73 – 786DMQVNT → MGHNHF in isoform 2. 2 PublicationsVSP_022537
    Alternative sequencei79 – 465387Missing in isoform 2. 2 PublicationsVSP_022538Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB014732 mRNA. Translation: BAB20269.1. Frameshift.
    AF351617 mRNA. Translation: AAN76517.2. Sequence problems.
    AK024215 mRNA. Translation: BAB14852.1.
    AK294628 mRNA. Translation: BAG57809.1. Sequence problems.
    AK297593 mRNA. Translation: BAG59980.1. Different initiation.
    AK300497 mRNA. Translation: BAG62211.1.
    AK301680 mRNA. Translation: BAG63153.1.
    AC080013 Genomic DNA. No translation available.
    AC128694 Genomic DNA. No translation available.
    BC030542 mRNA. Translation: AAH30542.1. Sequence problems.
    BC042197 mRNA. Translation: AAH42197.1.
    CCDSiCCDS3185.2. [Q9H3U5-6]
    CCDS54666.1. [Q9H3U5-5]
    RefSeqiNP_001161375.1. NM_001167903.1. [Q9H3U5-5]
    NP_001276335.1. NM_001289406.1.
    NP_001276336.1. NM_001289407.1. [Q9H3U5-4]
    NP_073573.2. NM_022736.2. [Q9H3U5-6]
    XP_006713793.1. XM_006713730.1. [Q9H3U5-5]
    UniGeneiHs.58663.

    Genome annotation databases

    EnsembliENST00000264266; ENSP00000264266; ENSG00000118855. [Q9H3U5-1]
    ENST00000392813; ENSP00000376560; ENSG00000118855. [Q9H3U5-5]
    ENST00000415822; ENSP00000403117; ENSG00000118855. [Q9H3U5-6]
    ENST00000480292; ENSP00000419467; ENSG00000118855. [Q9H3U5-2]
    ENST00000484166; ENSP00000417950; ENSG00000118855. [Q9H3U5-2]
    GeneIDi64747.
    KEGGihsa:64747.

    Polymorphism databases

    DMDMi124015158.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB014732 mRNA. Translation: BAB20269.1 . Frameshift.
    AF351617 mRNA. Translation: AAN76517.2 . Sequence problems.
    AK024215 mRNA. Translation: BAB14852.1 .
    AK294628 mRNA. Translation: BAG57809.1 . Sequence problems.
    AK297593 mRNA. Translation: BAG59980.1 . Different initiation.
    AK300497 mRNA. Translation: BAG62211.1 .
    AK301680 mRNA. Translation: BAG63153.1 .
    AC080013 Genomic DNA. No translation available.
    AC128694 Genomic DNA. No translation available.
    BC030542 mRNA. Translation: AAH30542.1 . Sequence problems.
    BC042197 mRNA. Translation: AAH42197.1 .
    CCDSi CCDS3185.2. [Q9H3U5-6 ]
    CCDS54666.1. [Q9H3U5-5 ]
    RefSeqi NP_001161375.1. NM_001167903.1. [Q9H3U5-5 ]
    NP_001276335.1. NM_001289406.1.
    NP_001276336.1. NM_001289407.1. [Q9H3U5-4 ]
    NP_073573.2. NM_022736.2. [Q9H3U5-6 ]
    XP_006713793.1. XM_006713730.1. [Q9H3U5-5 ]
    UniGenei Hs.58663.

    3D structure databases

    ProteinModelPortali Q9H3U5.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 122263. 1 interaction.
    MINTi MINT-4723047.

    PTM databases

    PhosphoSitei Q9H3U5.

    Polymorphism databases

    DMDMi 124015158.

    Proteomic databases

    MaxQBi Q9H3U5.
    PaxDbi Q9H3U5.
    PRIDEi Q9H3U5.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000264266 ; ENSP00000264266 ; ENSG00000118855 . [Q9H3U5-1 ]
    ENST00000392813 ; ENSP00000376560 ; ENSG00000118855 . [Q9H3U5-5 ]
    ENST00000415822 ; ENSP00000403117 ; ENSG00000118855 . [Q9H3U5-6 ]
    ENST00000480292 ; ENSP00000419467 ; ENSG00000118855 . [Q9H3U5-2 ]
    ENST00000484166 ; ENSP00000417950 ; ENSG00000118855 . [Q9H3U5-2 ]
    GeneIDi 64747.
    KEGGi hsa:64747.

    Organism-specific databases

    CTDi 64747.
    GeneCardsi GC03P158449.
    HGNCi HGNC:25874. MFSD1.
    neXtProti NX_Q9H3U5.
    PharmGKBi PA134947356.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0477.
    HOVERGENi HBG081969.
    InParanoidi Q9H3U5.
    OMAi IKFSHTE.
    PhylomeDBi Q9H3U5.
    TreeFami TF323603.

    Miscellaneous databases

    GenomeRNAii 64747.
    NextBioi 35535368.
    PROi Q9H3U5.

    Gene expression databases

    ArrayExpressi Q9H3U5.
    Bgeei Q9H3U5.
    CleanExi HS_MFSD1.
    Genevestigatori Q9H3U5.

    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. 1 hit.
    PROSITEi PS50850. MFS. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Molecular cloning and characterization of human smooth muscle cell associated protein-4 (SMAP-4)."
      Nishimoto S., Toyoda H., Tawara J., Aoki T., Komurasaki T.
      Submitted (MAY-1998) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
      Tissue: Heart.
    2. "Isolation of full-length cDNA clones from human fetal brain cDNA library."
      Mao Y., Xie Y.
      Submitted (NOV-2003) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Fetal brain.
    3. "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; 2; 3 AND 4), VARIANTS SER-24 AND VAL-220.
      Tissue: Brain, Esophagus and Prostate.
    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] (ISOFORMS 1 AND 2), VARIANTS GLU-168 AND VAL-220.
      Tissue: Brain, Duodenum and Lung.

    Entry informationi

    Entry nameiMFSD1_HUMAN
    AccessioniPrimary (citable) accession number: Q9H3U5
    Secondary accession number(s): B4DGJ8
    , B4DMR8, B4DU49, B4DWU1, C9JS94, J3KQL7, Q05C07, Q5XKJ1, Q8IVS1, Q8IXG4, Q9H7X1
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: January 23, 2007
    Last sequence update: January 23, 2007
    Last modified: October 1, 2014
    This is version 92 of the entry and version 2 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 3
      Human chromosome 3: 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