RFT1

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)
End	53,130,453 bp
Gene location (Mouse)
Chr.	Chromosome 14 (mouse)
End	30,413,274 bp
RNA expression pattern
	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
	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
	91869
	328370
	ENSG00000163933
	ENSMUSG00000052395
	Q96AA3
	Q8C3B8
	NM_052859
	NM_177815
	NP_443091
	NP_808483
	Wikidata
View/Edit Human	View/Edit Mouse

Protein RFT1 homolog is a protein that in humans is encoded by the RFT1 gene.⁵⁶

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

References

GRCh38: Ensembl release 89: ENSG00000163933 – Ensembl, May 2017
GRCm38: Ensembl release 89: ENSMUSG00000052395 – Ensembl, May 2017
"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Entrez Gene: RFT1 homolog (S. cerevisiae)".
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.