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RFT1
Identifiers
Aliases	RFT1, CDG1N, RFT1 homolog
External IDs	OMIM: 611908; MGI: 3607791; HomoloGene: 5343; GeneCards: RFT1; OMA:RFT1 - orthologs
Gene location (Human) Chr. Chromosome 3 (human) Band 3p21.1 Start 53,088,483 bp End 53,130,453 bp
Gene location (Mouse) Chr. Chromosome 14 (mouse) Band 14|14 B Start 30,376,317 bp End 30,413,274 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in gonad body of pancreas islet of Langerhans stromal cell of endometrium appendix right adrenal gland rectum left adrenal gland white blood cell monocyte Top expressed in proximal tubule spermatocyte white adipose tissue adrenal gland hepatobiliary system liver right kidney lens placenta ovary More reference expression data BioGPS n/a
Gene ontology Molecular function lipid transporter activity Cellular component endoplasmic reticulum membrane integral component of membrane membrane Biological process carbohydrate transport glycolipid translocation lipid transport Sources:Amigo / QuickGO
Orthologs Species Human Mouse 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 Mb Chr 14: 30.38 – 30.41 Mb PubMed search
Wikidata
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Protein RFT1 homolog is a protein that in humans is encoded by the RFT1 gene.

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

See also

• Flippase

References

1. ^ GRCh38: Ensembl release 89: ENSG00000163933 – Ensembl, May 2017
2. ^ GRCm38: Ensembl release 89: ENSMUSG00000052395 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "Entrez Gene: RFT1 homolog (S. cerevisiae)".
6. ^ 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. S2CID 4419970.
• 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. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Rose JE, Behm FM, Drgon T, et al. (2010). "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.

External links

• GeneReviews/NCBI/NIH/UW entry on Congenital Disorders of Glycosylation Overview

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