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    RFT1 RFT1 homolog [ Homo sapiens (human) ]

    Gene ID: 91869, updated on 2-May-2024

    Summary

    Official Symbol
    RFT1provided by HGNC
    Official Full Name
    RFT1 homologprovided by HGNC
    Primary source
    HGNC:HGNC:30220
    See related
    Ensembl:ENSG00000163933 MIM:611908; AllianceGenome:HGNC:30220
    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
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See RFT1 in Genome Data Viewer
    Location:
    3p21.1
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (53066853..53130435, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (53099771..53163318, complement)
    105.20220307 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 Neanderthal introgressed variant-containing enhancer experimental_70661 Neighboring gene Scm like with four mbt domains 1 Neighboring gene Sharpr-MPRA regulatory region 7399 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:53032540-53033040 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:53033923-53034166 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19949 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:53064883-53065417 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_70686 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14455 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14458 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:53080405-53080906 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14457 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14456 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:53080907-53081406 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19950 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:53106949-53107566 Neighboring gene SERPINE1 mRNA binding protein 1 pseudogene 3 Neighboring gene Sharpr-MPRA regulatory region 3047 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19952 Neighboring gene NANOG hESC enhancer GRCh37_chr3:53136831-53137332 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19953 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:53148350-53149549 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19954 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19955 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19956 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19957 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:53182771-53183578 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:53190496-53190996 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19958 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14459 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14460 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19959 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19960 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:53201730-53202410 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:53202411-53203091 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14461 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19961 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:53208863-53209718 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19962 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19963 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19964 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19965 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19966 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19967 Neighboring gene Sharpr-MPRA regulatory region 8375 Neighboring gene protein kinase C delta Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14462 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:53236717-53237216 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14463 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:53261945-53263144 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:53270389-53271197 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:53274891-53275886 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14464 Neighboring gene transketolase

    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

    EBI GWAS Catalog

    Description
    Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.
    EBI GWAS Catalog
    Genome-wide association analysis identifies 13 new risk loci for schizophrenia.
    EBI GWAS Catalog
    Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
    EBI GWAS Catalog
    Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 dolichol-linked oligosaccharide biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in glycolipid translocation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in glycolipid translocation IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in protein N-linked glycosylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in endoplasmic reticulum membrane IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    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, Q96J03
      UniProtKB/TrEMBL
      A0A291FGD9
      Related
      ENSP00000296292.3, ENST00000296292.8
      Conserved Domains (1) summary
      pfam04506
      Location:14524
      Rft-1; Rft protein

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      53066853..53130435 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011534215.4XP_011532517.1  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_011534214.3XP_011532516.1  protein RFT1 homolog isoform X1

      Conserved Domains (1) summary
      cl09326
      Location:11403
      MATE_like; Multidrug and toxic compound extrusion family and similar proteins
    3. XM_006713384.4XP_006713447.1  protein RFT1 homolog isoform X3

      Conserved Domains (1) summary
      cl09326
      Location:11403
      MATE_like; Multidrug and toxic compound extrusion family and similar proteins
    4. XM_011534216.4XP_011532518.1  protein RFT1 homolog isoform X5

      Conserved Domains (1) summary
      cl09326
      Location:22305
      MATE_like; Multidrug and toxic compound extrusion family and similar proteins
    5. XM_005265537.5XP_005265594.1  protein RFT1 homolog isoform X4

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

    RNA

    1. XR_007095765.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      53099771..53163318 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054348362.1XP_054204337.1  protein RFT1 homolog isoform X2

    2. XM_054348361.1XP_054204336.1  protein RFT1 homolog isoform X1

    3. XM_054348363.1XP_054204338.1  protein RFT1 homolog isoform X3

    4. XM_054348365.1XP_054204340.1  protein RFT1 homolog isoform X5

    5. XM_054348364.1XP_054204339.1  protein RFT1 homolog isoform X4

    RNA

    1. XR_008486849.1 RNA Sequence