RFT1

Last updated
RFT1
Identifiers
Aliases RFT1 , CDG1N, RFT1 homolog
External IDs OMIM: 611908 MGI: 3607791 HomoloGene: 5343 GeneCards: RFT1
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 Mb Chr 14: 30.38 – 30.41 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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

Contents

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

See also

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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:". 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. 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


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