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Q96AA3

- RFT1_HUMAN

UniProt

Q96AA3 - RFT1_HUMAN

Protein

Protein RFT1 homolog

Gene

RFT1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 100 (01 Oct 2014)
      Sequence version 1 (01 Dec 2001)
      Previous versions | rss
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    Functioni

    May be involved in N-linked oligosaccharide assembly. May participate in the translocation of oligosaccharide from the cytoplasmic side to the lumenal side of the endoplasmic reticulum membrane.1 Publication

    GO - Molecular functioni

    1. lipid transporter activity Source: InterPro

    GO - Biological processi

    1. carbohydrate transport Source: UniProtKB-KW
    2. cellular protein metabolic process Source: Reactome
    3. dolichol-linked oligosaccharide biosynthetic process Source: Reactome
    4. post-translational protein modification Source: Reactome
    5. protein N-linked glycosylation via asparagine Source: Reactome

    Keywords - Biological processi

    Sugar transport, Transport

    Enzyme and pathway databases

    ReactomeiREACT_22433. Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein.

    Protein family/group databases

    TCDBi2.A.66.3.2. the multidrug/oligosaccharidyl-lipid/polysaccharide (mop) flippase superfamily.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Protein RFT1 homolog
    Gene namesi
    Name:RFT1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 3

    Organism-specific databases

    HGNCiHGNC:30220. RFT1.

    Subcellular locationi

    GO - Cellular componenti

    1. integral component of membrane Source: UniProtKB-KW

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Congenital disorder of glycosylation 1N (CDG1N) [MIM:612015]: 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.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti67 – 671R → C in CDG1N. 2 Publications
    VAR_044334
    Natural varianti152 – 1521K → E in CDG1N. 1 Publication
    VAR_062572
    Natural varianti298 – 2981E → K in CDG1N. 1 Publication
    VAR_062573

    Keywords - Diseasei

    Congenital disorder of glycosylation, Disease mutation

    Organism-specific databases

    MIMi612015. phenotype.
    Orphaneti244310. RFT1-CDG.
    PharmGKBiPA134960002.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 541541Protein RFT1 homologPRO_0000311286Add
    BLAST

    Proteomic databases

    MaxQBiQ96AA3.
    PaxDbiQ96AA3.
    PRIDEiQ96AA3.

    PTM databases

    PhosphoSiteiQ96AA3.

    Expressioni

    Gene expression databases

    ArrayExpressiQ96AA3.
    BgeeiQ96AA3.
    CleanExiHS_RFT1.
    GenevestigatoriQ96AA3.

    Interactioni

    Protein-protein interaction databases

    BioGridi124888. 2 interactions.
    IntActiQ96AA3. 1 interaction.
    STRINGi9606.ENSP00000296292.

    Structurei

    3D structure databases

    ProteinModelPortaliQ96AA3.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei16 – 3621HelicalSequence AnalysisAdd
    BLAST
    Transmembranei42 – 6221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei85 – 10521HelicalSequence AnalysisAdd
    BLAST
    Transmembranei123 – 14321HelicalSequence AnalysisAdd
    BLAST
    Transmembranei155 – 17420HelicalSequence AnalysisAdd
    BLAST
    Transmembranei187 – 20721HelicalSequence AnalysisAdd
    BLAST
    Transmembranei335 – 35521HelicalSequence AnalysisAdd
    BLAST
    Transmembranei376 – 39621HelicalSequence AnalysisAdd
    BLAST
    Transmembranei404 – 42320HelicalSequence AnalysisAdd
    BLAST
    Transmembranei428 – 45023HelicalSequence AnalysisAdd
    BLAST
    Transmembranei470 – 49021HelicalSequence AnalysisAdd
    BLAST
    Transmembranei499 – 51921HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the RFT1 family.Curated

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG267200.
    HOGENOMiHOG000007364.
    HOVERGENiHBG106670.
    InParanoidiQ96AA3.
    KOiK06316.
    OMAiLCCEQGW.
    OrthoDBiEOG7H4DT4.
    PhylomeDBiQ96AA3.
    TreeFamiTF313129.

    Family and domain databases

    InterProiIPR007594. RFT1.
    [Graphical view]
    PANTHERiPTHR13117. PTHR13117. 1 hit.
    PfamiPF04506. Rft-1. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q96AA3-1 [UniParc]FASTAAdd to Basket

    « Hide

    MGSQEVLGHA ARLASSGLLL QVLFRLITFV LNAFILRFLS KEIVGVVNVR    50
    LTLLYSTTLF LAREAFRRAC LSGGTQRDWS QTLNLLWLTV PLGVFWSLFL 100
    GWIWLQLLEV PDPNVVPHYA TGVVLFGLSA VVELLGEPFW VLAQAHMFVK 150
    LKVIAESLSV ILKSVLTAFL VLWLPHWGLY IFSLAQLFYT TVLVLCYVIY 200
    FTKLLGSPES TKLQTLPVSR ITDLLPNITR NGAFINWKEA KLTWSFFKQS 250
    FLKQILTEGE RYVMTFLNVL NFGDQGVYDI VNNLGSLVAR LIFQPIEESF 300
    YIFFAKVLER GKDATLQKQE DVAVAAAVLE SLLKLALLAG LTITVFGFAY 350
    SQLALDIYGG TMLSSGSGPV LLRSYCLYVL LLAINGVTEC FTFAAMSKEE 400
    VDRYNFVMLA LSSSFLVLSY LLTRWCGSVG FILANCFNMG IRITQSLCFI 450
    HRYYRRSPHR PLAGLHLSPV LLGTFALSGG VTAVSEVFLC CEQGWPARLA 500
    HIAVGAFCLG ATLGTAFLTE TKLIHFLRTQ LGVPRRTDKM T 541
    Length:541
    Mass (Da):60,335
    Last modified:December 1, 2001 - v1
    Checksum:i2988BA1A2EB769E0
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti67 – 671R → C in CDG1N. 2 Publications
    VAR_044334
    Natural varianti152 – 1521K → E in CDG1N. 1 Publication
    VAR_062572
    Natural varianti185 – 1851A → T.
    Corresponds to variant rs35221142 [ dbSNP | Ensembl ].
    VAR_037215
    Natural varianti298 – 2981E → K in CDG1N. 1 Publication
    VAR_062573

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ318099 mRNA. Translation: CAC69544.1.
    CH471055 Genomic DNA. Translation: EAW65277.1.
    BC006846 mRNA. Translation: AAH06846.1.
    BC043595 mRNA. Translation: AAH43595.1.
    CCDSiCCDS2869.1.
    RefSeqiNP_443091.1. NM_052859.3.
    UniGeneiHs.631910.

    Genome annotation databases

    EnsembliENST00000296292; ENSP00000296292; ENSG00000163933.
    GeneIDi91869.
    KEGGihsa:91869.
    UCSCiuc003dgj.3. human.

    Polymorphism databases

    DMDMi74731102.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ318099 mRNA. Translation: CAC69544.1 .
    CH471055 Genomic DNA. Translation: EAW65277.1 .
    BC006846 mRNA. Translation: AAH06846.1 .
    BC043595 mRNA. Translation: AAH43595.1 .
    CCDSi CCDS2869.1.
    RefSeqi NP_443091.1. NM_052859.3.
    UniGenei Hs.631910.

    3D structure databases

    ProteinModelPortali Q96AA3.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 124888. 2 interactions.
    IntActi Q96AA3. 1 interaction.
    STRINGi 9606.ENSP00000296292.

    Protein family/group databases

    TCDBi 2.A.66.3.2. the multidrug/oligosaccharidyl-lipid/polysaccharide (mop) flippase superfamily.

    PTM databases

    PhosphoSitei Q96AA3.

    Polymorphism databases

    DMDMi 74731102.

    Proteomic databases

    MaxQBi Q96AA3.
    PaxDbi Q96AA3.
    PRIDEi Q96AA3.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000296292 ; ENSP00000296292 ; ENSG00000163933 .
    GeneIDi 91869.
    KEGGi hsa:91869.
    UCSCi uc003dgj.3. human.

    Organism-specific databases

    CTDi 91869.
    GeneCardsi GC03M053122.
    GeneReviewsi RFT1.
    HGNCi HGNC:30220. RFT1.
    MIMi 611908. gene.
    612015. phenotype.
    neXtProti NX_Q96AA3.
    Orphaneti 244310. RFT1-CDG.
    PharmGKBi PA134960002.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG267200.
    HOGENOMi HOG000007364.
    HOVERGENi HBG106670.
    InParanoidi Q96AA3.
    KOi K06316.
    OMAi LCCEQGW.
    OrthoDBi EOG7H4DT4.
    PhylomeDBi Q96AA3.
    TreeFami TF313129.

    Enzyme and pathway databases

    Reactomei REACT_22433. Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein.

    Miscellaneous databases

    ChiTaRSi RFT1. human.
    GeneWikii RFT1.
    GenomeRNAii 91869.
    NextBioi 77504.
    PROi Q96AA3.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q96AA3.
    Bgeei Q96AA3.
    CleanExi HS_RFT1.
    Genevestigatori Q96AA3.

    Family and domain databases

    InterProi IPR007594. RFT1.
    [Graphical view ]
    PANTHERi PTHR13117. PTHR13117. 1 hit.
    Pfami PF04506. Rft-1. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Common origin and evolution of glycosyltransferases using Dol-P-monosaccharides as donor substrate."
      Oriol R., Martinez-Duncker I., Chantret I., Mollicone R., Codogno P.
      Mol. Biol. Evol. 19:1451-1463(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
      Tissue: Embryo.
    2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    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].
      Tissue: Brain and Placenta.
    4. Cited for: FUNCTION, VARIANT CDG1N CYS-67.
    5. Cited for: VARIANTS CDG1N CYS-67; GLU-152 AND LYS-298.

    Entry informationi

    Entry nameiRFT1_HUMAN
    AccessioniPrimary (citable) accession number: Q96AA3
    Secondary accession number(s): Q96J03
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 13, 2007
    Last sequence update: December 1, 2001
    Last modified: October 1, 2014
    This is version 100 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 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. 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