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RFT1 RFT1 homolog [ Homo sapiens (human) ]

Gene ID: 91869, updated on 17-Jun-2019

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

Genomic context

See RFT1 in Genome Data Viewer
Location:
3p21.1
Exon count:
18
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 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 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 FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Pathways from BioSystems

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
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
PubMed 
Component Evidence Code Pubs
endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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)

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_052859.4NP_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 Annotation Release 109

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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