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Protein

Protein RFT1 homolog

Gene

RFT1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

  • carbohydrate transport Source: UniProtKB-KW
  • glycolipid translocation Source: GO_Central

Keywordsi

Biological processSugar transport, Transport

Enzyme and pathway databases

ReactomeiR-HSA-446193 Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
R-HSA-4570571 Defective RFT1 causes RFT1-CDG (CDG-1n)

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

EuPathDBiHostDB:ENSG00000163933.9
HGNCiHGNC:30220 RFT1
MIMi611908 gene
neXtProtiNX_Q96AA3

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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

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 dbSNP:rs118203913EnsemblClinVar.1
Natural variantiVAR_062572152K → E in CDG1N. 1 PublicationCorresponds to variant dbSNP:rs763862849EnsemblClinVar.1
Natural variantiVAR_062573298E → K in CDG1N. 1 PublicationCorresponds to variant dbSNP:rs796053521EnsemblClinVar.1

Keywords - Diseasei

Congenital disorder of glycosylation, Disease mutation

Organism-specific databases

DisGeNETi91869
GeneReviewsiRFT1
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
ProteomicsDBi75941

PTM databases

iPTMnetiQ96AA3
PhosphoSitePlusiQ96AA3
SwissPalmiQ96AA3

Expressioni

Gene expression databases

BgeeiENSG00000163933 Expressed in 155 organ(s), highest expression level in testis
CleanExiHS_RFT1
ExpressionAtlasiQ96AA3 baseline and differential
GenevisibleiQ96AA3 HS

Organism-specific databases

HPAiHPA060327
HPA069022

Interactioni

Protein-protein interaction databases

BioGridi124888, 21 interactors
IntActiQ96AA3, 16 interactors
MINTiQ96AA3
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
OMAiWPGKLFG
OrthoDBiEOG091G0D5P
PhylomeDBiQ96AA3
TreeFamiTF313129

Family and domain databases

InterProiView protein in InterPro
IPR007594 RFT1
PANTHERiPTHR13117 PTHR13117, 1 hit
PfamiView protein in Pfam
PF04506 Rft-1, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
B5MDE0B5MDE0_HUMAN
Protein RFT1 homolog
RFT1 hCG_17562
502Annotation score:
C9JP01C9JP01_HUMAN
Protein RFT1 homolog
RFT1
291Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04433467R → C in CDG1N. 2 PublicationsCorresponds to variant dbSNP:rs118203913EnsemblClinVar.1
Natural variantiVAR_062572152K → E in CDG1N. 1 PublicationCorresponds to variant dbSNP:rs763862849EnsemblClinVar.1
Natural variantiVAR_037215185A → T. Corresponds to variant dbSNP:rs35221142EnsemblClinVar.1
Natural variantiVAR_062573298E → K in CDG1N. 1 PublicationCorresponds to variant dbSNP:rs796053521EnsemblClinVar.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

Similar proteinsi

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, 21 interactors
IntActiQ96AA3, 16 interactors
MINTiQ96AA3
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
ProteomicsDBi75941

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi91869
DisGeNETi91869
EuPathDBiHostDB:ENSG00000163933.9
GeneCardsiRFT1
GeneReviewsiRFT1
HGNCiHGNC:30220 RFT1
HPAiHPA060327
HPA069022
MalaCardsiRFT1
MIMi611908 gene
612015 phenotype
neXtProtiNX_Q96AA3
OpenTargetsiENSG00000163933
Orphaneti244310 RFT1-CDG
PharmGKBiPA134960002
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

ReactomeiR-HSA-446193 Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
R-HSA-4570571 Defective RFT1 causes RFT1-CDG (CDG-1n)

Miscellaneous databases

ChiTaRSiRFT1 human
GeneWikiiRFT1
GenomeRNAii91869
PROiPR:Q96AA3
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000163933 Expressed in 155 organ(s), highest expression level in testis
CleanExiHS_RFT1
ExpressionAtlasiQ96AA3 baseline and differential
GenevisibleiQ96AA3 HS

Family and domain databases

InterProiView protein in InterPro
IPR007594 RFT1
PANTHERiPTHR13117 PTHR13117, 1 hit
PfamiView protein in Pfam
PF04506 Rft-1, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiRFT1_HUMAN
AccessioniPrimary (citable) accession number: Q96AA3
Secondary accession number(s): Q96J03
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 13, 2007
Last sequence update: December 1, 2001
Last modified: November 7, 2018
This is version 132 of the entry and version 1 of the sequence. See 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. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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Main funding by: National Institutes of Health

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