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Q96A29

- FUCT1_HUMAN

UniProt

Q96A29 - FUCT1_HUMAN

Protein

GDP-fucose transporter 1

Gene

SLC35C1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 124 (01 Oct 2014)
      Sequence version 1 (01 Dec 2001)
      Previous versions | rss
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    Functioni

    Involved in GDP-fucose import from the cytoplasm into the Golgi lumen.

    GO - Biological processi

    1. carbohydrate transport Source: UniProtKB-KW
    2. lipid glycosylation Source: Ensembl
    3. negative regulation of Notch signaling pathway Source: Ensembl
    4. transmembrane transport Source: Reactome

    Keywords - Biological processi

    Sugar transport, Transport

    Enzyme and pathway databases

    ReactomeiREACT_22151. Transport of nucleotide sugars.

    Protein family/group databases

    TCDBi2.A.7.16.1. the drug/metabolite transporter (dmt) superfamily.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    GDP-fucose transporter 1
    Alternative name(s):
    Solute carrier family 35 member C1
    Gene namesi
    Name:SLC35C1
    Synonyms:FUCT1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 11

    Organism-specific databases

    HGNCiHGNC:20197. SLC35C1.

    Subcellular locationi

    GO - Cellular componenti

    1. Golgi membrane Source: Reactome
    2. integral component of membrane Source: UniProtKB-KW

    Keywords - Cellular componenti

    Golgi apparatus, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Congenital disorder of glycosylation 2C (CDG2C) [MIM:266265]: A multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. The clinical features of CDG2C include mental retardation, short stature, facial stigmata, and recurrent bacterial peripheral infections with persistently elevated peripheral leukocytes. Biochemically, CDG2C is characterized by a lack of fucosylated glycoconjugates, including selectin ligands.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti147 – 1471R → C in CDG2C. 2 Publications
    Corresponds to variant rs28939087 [ dbSNP | Ensembl ].
    VAR_012347
    Natural varianti308 – 3081T → R in CDG2C. 1 Publication
    Corresponds to variant rs28937886 [ dbSNP | Ensembl ].
    VAR_012348

    Keywords - Diseasei

    Congenital disorder of glycosylation, Disease mutation

    Organism-specific databases

    MIMi266265. phenotype.
    Orphaneti99843. Leukocyte adhesion deficiency type II.
    PharmGKBiPA134930330.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 364364GDP-fucose transporter 1PRO_0000213391Add
    BLAST

    Proteomic databases

    MaxQBiQ96A29.
    PaxDbiQ96A29.
    PRIDEiQ96A29.

    PTM databases

    PhosphoSiteiQ96A29.

    Expressioni

    Gene expression databases

    ArrayExpressiQ96A29.
    BgeeiQ96A29.
    CleanExiHS_SLC35C1.
    GenevestigatoriQ96A29.

    Interactioni

    Protein-protein interaction databases

    STRINGi9606.ENSP00000313318.

    Structurei

    3D structure databases

    ProteinModelPortaliQ96A29.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei34 – 5623HelicalSequence AnalysisAdd
    BLAST
    Transmembranei76 – 9823HelicalSequence AnalysisAdd
    BLAST
    Transmembranei111 – 13020HelicalSequence AnalysisAdd
    BLAST
    Transmembranei140 – 16223HelicalSequence AnalysisAdd
    BLAST
    Transmembranei167 – 18519HelicalSequence AnalysisAdd
    BLAST
    Transmembranei195 – 21420HelicalSequence AnalysisAdd
    BLAST
    Transmembranei227 – 24923HelicalSequence AnalysisAdd
    BLAST
    Transmembranei264 – 28623HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG258277.
    HOGENOMiHOG000021132.
    HOVERGENiHBG051670.
    InParanoidiQ96A29.
    KOiK15279.
    OMAiVVSLYWV.
    OrthoDBiEOG72G17G.
    PhylomeDBiQ96A29.
    TreeFamiTF354269.

    Family and domain databases

    InterProiIPR000620. DMT.
    IPR004853. Tpt_PEP_trans_dom.
    [Graphical view]
    PfamiPF00892. EamA. 1 hit.
    PF03151. TPT. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q96A29-1) [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

    MNRAPLKRSR ILHMALTGAS DPSAEAEANG EKPFLLRALQ IALVVSLYWV    50
    TSISMVFLNK YLLDSPSLRL DTPIFVTFYQ CLVTTLLCKG LSALAACCPG 100
    AVDFPSLRLD LRVARSVLPL SVVFIGMITF NNLCLKYVGV AFYNVGRSLT 150
    TVFNVLLSYL LLKQTTSFYA LLTCGIIIGG FWLGVDQEGA EGTLSWLGTV 200
    FGVLASLCVS LNAIYTTKVL PAVDGSIWRL TFYNNVNACI LFLPLLLLLG 250
    ELQALRDFAQ LGSAHFWGMM TLGGLFGFAI GYVTGLQIKF TSPLTHNVSG 300
    TAKACAQTVL AVLYYEETKS FLWWTSNMMV LGGSSAYTWV RGWEMKKTPE 350
    EPSPKDSEKS AMGV 364
    Length:364
    Mass (Da):39,809
    Last modified:December 1, 2001 - v1
    Checksum:i2E659D49C5C5E92E
    GO
    Isoform 2 (identifier: Q96A29-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-13: Missing.

    Show »
    Length:351
    Mass (Da):38,235
    Checksum:i070ECFC1B614798C
    GO

    Sequence cautioni

    The sequence BAA92126.1 differs from that shown. Reason: Erroneous initiation.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti258 – 2581F → L in BAA92126. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti49 – 491W → S.1 Publication
    Corresponds to variant rs11538193 [ dbSNP | Ensembl ].
    VAR_057302
    Natural varianti147 – 1471R → C in CDG2C. 2 Publications
    Corresponds to variant rs28939087 [ dbSNP | Ensembl ].
    VAR_012347
    Natural varianti240 – 2401I → V.
    Corresponds to variant rs7130656 [ dbSNP | Ensembl ].
    VAR_057303
    Natural varianti308 – 3081T → R in CDG2C. 1 Publication
    Corresponds to variant rs28937886 [ dbSNP | Ensembl ].
    VAR_012348

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 1313Missing in isoform 2. 1 PublicationVSP_047116Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF323970 mRNA. Translation: AAK50397.1.
    AF326199 mRNA. Translation: AAK51705.1.
    AK027394 mRNA. Translation: BAB55080.1.
    AK002182 mRNA. Translation: BAA92126.1. Different initiation.
    AK315473 mRNA. Translation: BAG37859.1.
    AC044839 Genomic DNA. No translation available.
    CH471064 Genomic DNA. Translation: EAW68031.1.
    BC001427 mRNA. Translation: AAH01427.2.
    CCDSiCCDS44575.1. [Q96A29-2]
    CCDS7914.1. [Q96A29-1]
    RefSeqiNP_001138737.1. NM_001145265.1. [Q96A29-2]
    NP_001138738.1. NM_001145266.1. [Q96A29-2]
    NP_060859.4. NM_018389.4. [Q96A29-1]
    UniGeneiHs.12211.

    Genome annotation databases

    EnsembliENST00000314134; ENSP00000313318; ENSG00000181830. [Q96A29-1]
    ENST00000442528; ENSP00000412408; ENSG00000181830. [Q96A29-2]
    GeneIDi55343.
    KEGGihsa:55343.
    UCSCiuc001nbo.3. human. [Q96A29-1]

    Polymorphism databases

    DMDMi20138280.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    SLC35C1base

    SLC35C1 mutation db

    GGDB

    GlycoGene database

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF323970 mRNA. Translation: AAK50397.1 .
    AF326199 mRNA. Translation: AAK51705.1 .
    AK027394 mRNA. Translation: BAB55080.1 .
    AK002182 mRNA. Translation: BAA92126.1 . Different initiation.
    AK315473 mRNA. Translation: BAG37859.1 .
    AC044839 Genomic DNA. No translation available.
    CH471064 Genomic DNA. Translation: EAW68031.1 .
    BC001427 mRNA. Translation: AAH01427.2 .
    CCDSi CCDS44575.1. [Q96A29-2 ]
    CCDS7914.1. [Q96A29-1 ]
    RefSeqi NP_001138737.1. NM_001145265.1. [Q96A29-2 ]
    NP_001138738.1. NM_001145266.1. [Q96A29-2 ]
    NP_060859.4. NM_018389.4. [Q96A29-1 ]
    UniGenei Hs.12211.

    3D structure databases

    ProteinModelPortali Q96A29.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000313318.

    Protein family/group databases

    TCDBi 2.A.7.16.1. the drug/metabolite transporter (dmt) superfamily.

    PTM databases

    PhosphoSitei Q96A29.

    Polymorphism databases

    DMDMi 20138280.

    Proteomic databases

    MaxQBi Q96A29.
    PaxDbi Q96A29.
    PRIDEi Q96A29.

    Protocols and materials databases

    DNASUi 55343.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000314134 ; ENSP00000313318 ; ENSG00000181830 . [Q96A29-1 ]
    ENST00000442528 ; ENSP00000412408 ; ENSG00000181830 . [Q96A29-2 ]
    GeneIDi 55343.
    KEGGi hsa:55343.
    UCSCi uc001nbo.3. human. [Q96A29-1 ]

    Organism-specific databases

    CTDi 55343.
    GeneCardsi GC11P045826.
    HGNCi HGNC:20197. SLC35C1.
    MIMi 266265. phenotype.
    605881. gene.
    neXtProti NX_Q96A29.
    Orphaneti 99843. Leukocyte adhesion deficiency type II.
    PharmGKBi PA134930330.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG258277.
    HOGENOMi HOG000021132.
    HOVERGENi HBG051670.
    InParanoidi Q96A29.
    KOi K15279.
    OMAi VVSLYWV.
    OrthoDBi EOG72G17G.
    PhylomeDBi Q96A29.
    TreeFami TF354269.

    Enzyme and pathway databases

    Reactomei REACT_22151. Transport of nucleotide sugars.

    Miscellaneous databases

    ChiTaRSi SLC35C1. human.
    GeneWikii SLC35C1.
    GenomeRNAii 55343.
    NextBioi 59671.
    PROi Q96A29.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q96A29.
    Bgeei Q96A29.
    CleanExi HS_SLC35C1.
    Genevestigatori Q96A29.

    Family and domain databases

    InterProi IPR000620. DMT.
    IPR004853. Tpt_PEP_trans_dom.
    [Graphical view ]
    Pfami PF00892. EamA. 1 hit.
    PF03151. TPT. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "The gene defective in leukocyte adhesion deficiency II encodes a putative GDP-fucose transporter."
      Luehn K., Wild M.K., Eckhardt M., Gerardy-Schahn R., Vestweber D.
      Nat. Genet. 28:69-72(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), CHARACTERIZATION, VARIANT CDG2C CYS-147.
    2. "Complementation cloning identifies CDG-IIc, a new type of congenital disorders of glycosylation, as a GDP-fucose transporter deficiency."
      Luebke T., Marquardt T., Etzioni A., Hartmann E., von Figura K., Koerner C.
      Nat. Genet. 28:73-76(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANTS CDG2C CYS-147 AND ARG-308.
    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 AND 2).
      Tissue: Mammary gland and Placenta.
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. "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), VARIANT SER-49.
      Tissue: Placenta.

    Entry informationi

    Entry nameiFUCT1_HUMAN
    AccessioniPrimary (citable) accession number: Q96A29
    Secondary accession number(s): B2RDB2, Q9BV76, Q9NUJ8
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: January 23, 2002
    Last sequence update: December 1, 2001
    Last modified: October 1, 2014
    This is version 124 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 11
      Human chromosome 11: 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