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    RFT1 RFT1 homolog [ Homo sapiens (human) ]

    Gene ID: 91869, updated on 8-Jul-2021

    Summary

    Official Symbol
    RFT1provided by HGNC
    Official Full Name
    RFT1 homologprovided by HGNC
    Primary source
    HGNC:HGNC:30220
    See related
    Ensembl:ENSG00000163933 MIM:611908
    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]
    Expression
    Ubiquitous expression in thyroid (RPKM 1.9), testis (RPKM 1.9) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See RFT1 in Genome Data Viewer
    Location:
    3p21.1
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (53071151..53130469, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (53122499..53164451, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene Scm like with four mbt domains 1 Neighboring gene SERPINE1 mRNA binding protein 1 pseudogene 3 Neighboring gene Sharpr-MPRA regulatory region 8375 Neighboring gene protein kinase C delta

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Congenital disorder of glycosylation type 1N Compare labs
    Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.
    GeneReviews: Not available
    Genome-wide association analysis identifies 13 new risk loci for schizophrenia.
    GeneReviews: Not available
    Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
    GeneReviews: Not available
    Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4.
    GeneReviews: Not available

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ25945, DKFZp667J092

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables glycolipid floppase activity TAS
    Traceable Author Statement
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in carbohydrate transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in dolichol-linked oligosaccharide biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in glycolipid translocation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    located_in integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    protein RFT1 homolog
    Names
    RFT1, requiring fifty three 1 homolog
    congenital disorder of glycosylation 1N
    putative endoplasmic reticulum multispan transmembrane protein

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      5020..46972
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_052859.4NP_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
      ENSP00000296292.3, ENST00000296292.8
      Conserved Domains (1) summary
      pfam04506
      Location:11524
      Rft-1; Rft protein

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_011534214.2XP_011532516.1  protein RFT1 homolog isoform X2

      Conserved Domains (1) summary
      cl09326
      Location:11403
      MATE_like; Multidrug and toxic compound extrusion family and similar proteins
    2. XM_011534215.3XP_011532517.1  protein RFT1 homolog isoform X3

      Conserved Domains (1) summary
      cl09326
      Location:11403
      MATE_like; Multidrug and toxic compound extrusion family and similar proteins
    3. XM_017007460.1XP_016862949.1  protein RFT1 homolog isoform X1

    4. XM_006713384.3XP_006713447.1  protein RFT1 homolog isoform X4

      Conserved Domains (1) summary
      cl09326
      Location:11403
      MATE_like; Multidrug and toxic compound extrusion family and similar proteins
    5. XM_011534216.3XP_011532518.1  protein RFT1 homolog isoform X6

      Conserved Domains (1) summary
      cl09326
      Location:22305
      MATE_like; Multidrug and toxic compound extrusion family and similar proteins
    6. XM_017007461.2XP_016862950.1  protein RFT1 homolog isoform X6

      Conserved Domains (1) summary
      cl09326
      Location:22305
      MATE_like; Multidrug and toxic compound extrusion family and similar proteins
    7. XM_005265537.4XP_005265594.1  protein RFT1 homolog isoform X5

      Conserved Domains (1) summary
      cl09326
      Location:11368
      MATE_like; Multidrug and toxic compound extrusion family and similar proteins

    RNA

    1. XR_001740360.2 RNA Sequence

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