RFT1

RFT1
Identifiers
AliasesRFT1, CDG1N, RFT1 homolog
External IDsMGI: 3607791 HomoloGene: 5343 GeneCards: RFT1
Gene location (Human)
Chr.Chromosome 3 (human)[1]
Band3p21.1Start53,088,483 bp[1]
End53,130,462 bp[1]
Orthologs
SpeciesHumanMouse
Entrez

91869

328370

Ensembl

ENSG00000163933

ENSMUSG00000052395

UniProt

Q96AA3

Q8C3B8

RefSeq (mRNA)

NM_052859

NM_177815

RefSeq (protein)

NP_443091

NP_808483

Location (UCSC)Chr 3: 53.09 – 53.13 MbChr 14: 30.65 – 30.69 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Protein RFT1 homolog is a protein that in humans is encoded by the RFT1 gene.[5][6]

Defects are associated with congenital disorder of glycosylation type 1N.[6]

See also

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000163933 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000052395 - Ensembl, May 2017
  3. ↑ "Human PubMed Reference:".
  4. ↑ "Mouse PubMed Reference:".
  5. ↑ "Entrez Gene: RFT1 homolog (S. cerevisiae)".
  6. 1 2 Haeuptle MA, Pujol FM, Neupert C, Winchester B, Kastaniotis AJ, Aebi M, Hennet T (March 2008). "Human RFT1 deficiency leads to a disorder of N-linked glycosylation". Am. J. Hum. Genet. 82 (3): 600–6. doi:10.1016/j.ajhg.2007.12.021. PMC 2427296. PMID 18313027.

Further reading

  • Helenius J, Ng DT, Marolda CL, et al. (2002). "Translocation of lipid-linked oligosaccharides across the ER membrane requires Rft1 protein". Nature. 415 (6870): 447–50. doi:10.1038/415447a. PMID 11807558.
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
  • Rose JE, Behm FM, Drgon T, et al. "Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score". Mol. Med. 16 (7–8): 247–53. doi:10.2119/molmed.2009.00159. PMC 2896464. PMID 20379614.


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