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    RFT1 RFT1 homolog [ Homo sapiens (human) ]

    Gene ID: 91869, updated on 9-Jun-2016
    Official Symbol
    RFT1provided by HGNC
    Official Full Name
    RFT1 homologprovided by HGNC
    Primary source
    HGNC:HGNC:30220
    See related
    Ensembl:ENSG00000163933 HPRD:15239; MIM:611908; Vega:OTTHUMG00000074035
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CDG1N
    Summary
    This gene encodes an enzyme which catalyzes the translocation of the Man(5)GlcNAc (2)-PP-Dol intermediate from the cytoplasmic to the luminal side of the endoplasmic reticulum membrane in the pathway for the N-glycosylation of proteins. Mutations in this gene are associated with congenital disorder of glycosylation type In.[provided by RefSeq, Dec 2008]
    Orthologs
    Location:
    3p21.1
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 3 NC_000003.12 (53071151..53130469, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (53122499..53164480, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene Scm-like with four mbt domains 1 Neighboring gene transcription initiation factor TFIID subunit 4-like Neighboring gene SERPINE1 mRNA binding protein 1 pseudogene 3 Neighboring gene protein kinase C delta Neighboring gene transketolase

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    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    • Homologs of the RFT1 gene: The RFT1 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, C.elegans, S.cerevisiae, K.lactis, E.gossypii, S.pombe, M.oryzae, N.crassa, A.thaliana, rice, and frog.
    • Orthologs from Annotation Pipeline: 181 organisms have orthologs with human gene RFT1
    • Map Viewer (Mouse, Rat)

    Clone Names

    • FLJ25945, DKFZp667J092

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    lipid transporter activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    carbohydrate transport IEA
    Inferred from Electronic Annotation
    more info
     
    glycolipid translocation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    protein RFT1 homolog
    Names
    RFT1, requiring fifty three 1 homolog
    congenital disorder of glycosylation 1N
    putative endoplasmic reticulum multispan transmembrane protein

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_009203.1 RefSeqGene

      Range
      5001..46972
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_052859.3NP_443091.1  protein RFT1 homolog

      See identical proteins and their annotated locations for NP_443091.1

      Status: REVIEWED

      Source sequence(s)
      AC096887, AL713685, BC043595
      Consensus CDS
      CCDS2869.1
      UniProtKB/Swiss-Prot
      Q96AA3
      Related
      ENSP00000296292, OTTHUMP00000082637, ENST00000296292, OTTHUMT00000157136
      Conserved Domains (1) summary
      cl09326
      Location:14513
      MATE_like; Multidrug and toxic compound extrusion family and similar proteins

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p7 Primary Assembly

      Range
      53071151..53130469 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011534215.2XP_011532517.1  

      Conserved Domains (1) summary
      cl09326
      Location:14403
      MATE_like; Multidrug and toxic compound extrusion family and similar proteins
    2. XM_011534214.2XP_011532516.1  

      Conserved Domains (1) summary
      cl09326
      Location:14403
      MATE_like; Multidrug and toxic compound extrusion family and similar proteins
    3. XM_017007460.1XP_016862949.1  

    4. XM_006713384.3XP_006713447.1  

      Conserved Domains (1) summary
      cl09326
      Location:14403
      MATE_like; Multidrug and toxic compound extrusion family and similar proteins
    5. XM_011534216.2XP_011532518.1  

      Conserved Domains (1) summary
      cl09326
      Location:15294
      MATE_like; Multidrug and toxic compound extrusion family and similar proteins
    6. XM_017007461.1XP_016862950.1  

    7. XM_005265537.4XP_005265594.1  

      Conserved Domains (1) summary
      cl09326
      Location:14368
      MATE_like; Multidrug and toxic compound extrusion family and similar proteins

    RNA

    1. XR_001740360.1 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018914.2 Alternate CHM1_1.1

      Range
      53074111..53116058 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)