Seroatlas · Human Serome Atlas

RFT1

Man(5)GlcNAc(2)-PP-dolichol translocation protein RFT1

Also known as: CDG1N, RFT1_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q96AA3
Gene
RFT1
Ensembl
ENSG00000163933
Chromosome
3
Canonical length
541 aa
Protein class
Disease related genes, Human disease related genes, Potential drug targets, Predicted membrane proteins, Transporters
Subcellular location
Vesicles

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

541 residues, UniProt reviewed canonical sequence.

>Q96AA3|RFT1
     1  MGSQEVLGHA ARLASSGLLL QVLFRLITFV LNAFILRFLS KEIVGVVNVR LTLLYSTTLF
    61  LAREAFRRAC LSGGTQRDWS QTLNLLWLTV PLGVFWSLFL GWIWLQLLEV PDPNVVPHYA
   121  TGVVLFGLSA VVELLGEPFW VLAQAHMFVK LKVIAESLSV ILKSVLTAFL VLWLPHWGLY
   181  IFSLAQLFYT TVLVLCYVIY FTKLLGSPES TKLQTLPVSR ITDLLPNITR NGAFINWKEA
   241  KLTWSFFKQS FLKQILTEGE RYVMTFLNVL NFGDQGVYDI VNNLGSLVAR LIFQPIEESF
   301  YIFFAKVLER GKDATLQKQE DVAVAAAVLE SLLKLALLAG LTITVFGFAY SQLALDIYGG
   361  TMLSSGSGPV LLRSYCLYVL LLAINGVTEC FTFAAMSKEE VDRYNFVMLA LSSSFLVLSY
   421  LLTRWCGSVG FILANCFNMG IRITQSLCFI HRYYRRSPHR PLAGLHLSPV LLGTFALSGG
   481  VTAVSEVFLC CEQGWPARLA HIAVGAFCLG ATLGTAFLTE TKLIHFLRTQ LGVPRRTDKM
   541  T

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against RFT1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Other membrane
Secreted
No
Transmembrane segments
12
Mean surface accessibility (rSASA)
0.26
Highest tissue expression
21 nTPM

Expression across tissuesHPA

Tissue

  • pancreas: 21 nTPM
  • salivary gland: 17 nTPM
  • lymph node: 16 nTPM
  • tonsil: 15 nTPM
  • parathyroid gland: 15 nTPM
  • appendix: 14 nTPM

Single-cell type

  • epididymal principal cells: 61 nCPM
  • sertoli cells: 30 nCPM
  • retinal pigment epithelial cells: 17 nCPM
  • microglia: 14 nCPM
  • pancreatic acinar cells: 13 nCPM
  • myonuclei: 13 nCPM

Immune cell

  • basophil: 51 nTPM
  • plasmacytoid DC: 49 nTPM
  • myeloid DC: 43 nTPM
  • intermediate monocyte: 41 nTPM
  • classical monocyte: 40 nTPM
  • naive B-cell: 36 nTPM

Brain region

  • white matter: 17 nTPM
  • cerebral cortex: 13 nTPM
  • basal ganglia: 13 nTPM
  • medulla oblongata: 12 nTPM
  • pons: 12 nTPM
  • hippocampal formation: 12 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about RFT1.

Disease | AllUniProt

Conditions RFT1 is implicated in, by any mechanism.

  • Congenital disorder of glycosylation 1N (CDG1N) MIM:612015

Disease | GeneticClinVar

17 pathogenic / likely-pathogenic of 627 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • RFT1-congenital disorder of glycosylation

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
1.09
gnomAD pLI
0
gnomAD missense Z
0.97
DepMap mean gene effect
-0.66
DepMap dependency class
common

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

  • glycolipid floppase activity

Cellular components

Protein domainsUniProt · Pfam · InterPro

  • RFT1
  • Rft protein

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads RFT1 as an antibody target. Whether an autoantibody or antibody against RFT1 could matter depends on whether native RFT1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

RFT1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label RFT1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/RFT1. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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