Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Protein RFT1 homolog

Gene

RFT1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at protein leveli

Functioni

May be involved in N-linked oligosaccharide assembly. May participate in the translocation of oligosaccharide from the cytoplasmic side to the lumenal side of the endoplasmic reticulum membrane.1 Publication

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Sugar transport, Transport

Enzyme and pathway databases

BioCyciZFISH:ENSG00000163933-MONOMER.
ReactomeiR-HSA-446193. Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein.

Protein family/group databases

TCDBi2.A.66.3.2. the multidrug/oligosaccharidyl-lipid/polysaccharide (mop) flippase superfamily.

Names & Taxonomyi

Protein namesi
Recommended name:
Protein RFT1 homolog
Gene namesi
Name:RFT1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

HGNCiHGNC:30220. RFT1.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei16 – 36HelicalSequence analysisAdd BLAST21
Transmembranei42 – 62HelicalSequence analysisAdd BLAST21
Transmembranei85 – 105HelicalSequence analysisAdd BLAST21
Transmembranei123 – 143HelicalSequence analysisAdd BLAST21
Transmembranei155 – 174HelicalSequence analysisAdd BLAST20
Transmembranei187 – 207HelicalSequence analysisAdd BLAST21
Transmembranei335 – 355HelicalSequence analysisAdd BLAST21
Transmembranei376 – 396HelicalSequence analysisAdd BLAST21
Transmembranei404 – 423HelicalSequence analysisAdd BLAST20
Transmembranei428 – 450HelicalSequence analysisAdd BLAST23
Transmembranei470 – 490HelicalSequence analysisAdd BLAST21
Transmembranei499 – 519HelicalSequence analysisAdd BLAST21

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Congenital disorder of glycosylation 1N (CDG1N)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions.
See also OMIM:612015
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04433467R → C in CDG1N. 2 PublicationsCorresponds to variant rs118203913dbSNPEnsembl.1
Natural variantiVAR_062572152K → E in CDG1N. 1 PublicationCorresponds to variant rs763862849dbSNPEnsembl.1
Natural variantiVAR_062573298E → K in CDG1N. 1 PublicationCorresponds to variant rs796053521dbSNPEnsembl.1

Keywords - Diseasei

Congenital disorder of glycosylation, Disease mutation

Organism-specific databases

DisGeNETi91869.
MalaCardsiRFT1.
MIMi612015. phenotype.
OpenTargetsiENSG00000163933.
Orphaneti244310. RFT1-CDG.
PharmGKBiPA134960002.

Polymorphism and mutation databases

BioMutaiRFT1.
DMDMi74731102.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003112861 – 541Protein RFT1 homologAdd BLAST541

Proteomic databases

EPDiQ96AA3.
MaxQBiQ96AA3.
PaxDbiQ96AA3.
PeptideAtlasiQ96AA3.
PRIDEiQ96AA3.

PTM databases

iPTMnetiQ96AA3.
PhosphoSitePlusiQ96AA3.
SwissPalmiQ96AA3.

Expressioni

Gene expression databases

BgeeiENSG00000163933.
CleanExiHS_RFT1.
ExpressionAtlasiQ96AA3. baseline and differential.
GenevisibleiQ96AA3. HS.

Organism-specific databases

HPAiHPA060327.

Interactioni

Protein-protein interaction databases

BioGridi124888. 20 interactors.
IntActiQ96AA3. 7 interactors.
STRINGi9606.ENSP00000296292.

Structurei

3D structure databases

ProteinModelPortaliQ96AA3.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the RFT1 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG2864. Eukaryota.
ENOG410Y1D5. LUCA.
GeneTreeiENSGT00390000011390.
HOGENOMiHOG000007364.
HOVERGENiHBG106670.
InParanoidiQ96AA3.
KOiK06316.
OMAiLCCEQGW.
OrthoDBiEOG091G0D5P.
PhylomeDBiQ96AA3.
TreeFamiTF313129.

Family and domain databases

InterProiIPR007594. RFT1.
[Graphical view]
PANTHERiPTHR13117. PTHR13117. 1 hit.
PfamiPF04506. Rft-1. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q96AA3-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MGSQEVLGHA ARLASSGLLL QVLFRLITFV LNAFILRFLS KEIVGVVNVR
60 70 80 90 100
LTLLYSTTLF LAREAFRRAC LSGGTQRDWS QTLNLLWLTV PLGVFWSLFL
110 120 130 140 150
GWIWLQLLEV PDPNVVPHYA TGVVLFGLSA VVELLGEPFW VLAQAHMFVK
160 170 180 190 200
LKVIAESLSV ILKSVLTAFL VLWLPHWGLY IFSLAQLFYT TVLVLCYVIY
210 220 230 240 250
FTKLLGSPES TKLQTLPVSR ITDLLPNITR NGAFINWKEA KLTWSFFKQS
260 270 280 290 300
FLKQILTEGE RYVMTFLNVL NFGDQGVYDI VNNLGSLVAR LIFQPIEESF
310 320 330 340 350
YIFFAKVLER GKDATLQKQE DVAVAAAVLE SLLKLALLAG LTITVFGFAY
360 370 380 390 400
SQLALDIYGG TMLSSGSGPV LLRSYCLYVL LLAINGVTEC FTFAAMSKEE
410 420 430 440 450
VDRYNFVMLA LSSSFLVLSY LLTRWCGSVG FILANCFNMG IRITQSLCFI
460 470 480 490 500
HRYYRRSPHR PLAGLHLSPV LLGTFALSGG VTAVSEVFLC CEQGWPARLA
510 520 530 540
HIAVGAFCLG ATLGTAFLTE TKLIHFLRTQ LGVPRRTDKM T
Length:541
Mass (Da):60,335
Last modified:December 1, 2001 - v1
Checksum:i2988BA1A2EB769E0
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04433467R → C in CDG1N. 2 PublicationsCorresponds to variant rs118203913dbSNPEnsembl.1
Natural variantiVAR_062572152K → E in CDG1N. 1 PublicationCorresponds to variant rs763862849dbSNPEnsembl.1
Natural variantiVAR_037215185A → T.Corresponds to variant rs35221142dbSNPEnsembl.1
Natural variantiVAR_062573298E → K in CDG1N. 1 PublicationCorresponds to variant rs796053521dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ318099 mRNA. Translation: CAC69544.1.
CH471055 Genomic DNA. Translation: EAW65277.1.
BC006846 mRNA. Translation: AAH06846.1.
BC043595 mRNA. Translation: AAH43595.1.
CCDSiCCDS2869.1.
RefSeqiNP_443091.1. NM_052859.3.
UniGeneiHs.631910.

Genome annotation databases

EnsembliENST00000296292; ENSP00000296292; ENSG00000163933.
GeneIDi91869.
KEGGihsa:91869.
UCSCiuc003dgj.4. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ318099 mRNA. Translation: CAC69544.1.
CH471055 Genomic DNA. Translation: EAW65277.1.
BC006846 mRNA. Translation: AAH06846.1.
BC043595 mRNA. Translation: AAH43595.1.
CCDSiCCDS2869.1.
RefSeqiNP_443091.1. NM_052859.3.
UniGeneiHs.631910.

3D structure databases

ProteinModelPortaliQ96AA3.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi124888. 20 interactors.
IntActiQ96AA3. 7 interactors.
STRINGi9606.ENSP00000296292.

Protein family/group databases

TCDBi2.A.66.3.2. the multidrug/oligosaccharidyl-lipid/polysaccharide (mop) flippase superfamily.

PTM databases

iPTMnetiQ96AA3.
PhosphoSitePlusiQ96AA3.
SwissPalmiQ96AA3.

Polymorphism and mutation databases

BioMutaiRFT1.
DMDMi74731102.

Proteomic databases

EPDiQ96AA3.
MaxQBiQ96AA3.
PaxDbiQ96AA3.
PeptideAtlasiQ96AA3.
PRIDEiQ96AA3.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000296292; ENSP00000296292; ENSG00000163933.
GeneIDi91869.
KEGGihsa:91869.
UCSCiuc003dgj.4. human.

Organism-specific databases

CTDi91869.
DisGeNETi91869.
GeneCardsiRFT1.
GeneReviewsiRFT1.
HGNCiHGNC:30220. RFT1.
HPAiHPA060327.
MalaCardsiRFT1.
MIMi611908. gene.
612015. phenotype.
neXtProtiNX_Q96AA3.
OpenTargetsiENSG00000163933.
Orphaneti244310. RFT1-CDG.
PharmGKBiPA134960002.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2864. Eukaryota.
ENOG410Y1D5. LUCA.
GeneTreeiENSGT00390000011390.
HOGENOMiHOG000007364.
HOVERGENiHBG106670.
InParanoidiQ96AA3.
KOiK06316.
OMAiLCCEQGW.
OrthoDBiEOG091G0D5P.
PhylomeDBiQ96AA3.
TreeFamiTF313129.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000163933-MONOMER.
ReactomeiR-HSA-446193. Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein.

Miscellaneous databases

ChiTaRSiRFT1. human.
GeneWikiiRFT1.
GenomeRNAii91869.
PROiQ96AA3.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000163933.
CleanExiHS_RFT1.
ExpressionAtlasiQ96AA3. baseline and differential.
GenevisibleiQ96AA3. HS.

Family and domain databases

InterProiIPR007594. RFT1.
[Graphical view]
PANTHERiPTHR13117. PTHR13117. 1 hit.
PfamiPF04506. Rft-1. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiRFT1_HUMAN
AccessioniPrimary (citable) accession number: Q96AA3
Secondary accession number(s): Q96J03
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 13, 2007
Last sequence update: December 1, 2001
Last modified: November 30, 2016
This is version 122 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.