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Q96AA3

- RFT1_HUMAN

UniProt

Q96AA3 - RFT1_HUMAN

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Protein

Protein RFT1 homolog

Gene
RFT1
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 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

  1. lipid transporter activity Source: InterPro

GO - Biological processi

  1. carbohydrate transport Source: UniProtKB-KW
  2. cellular protein metabolic process Source: Reactome
  3. dolichol-linked oligosaccharide biosynthetic process Source: Reactome
  4. post-translational protein modification Source: Reactome
  5. protein N-linked glycosylation via asparagine Source: Reactome
Complete GO annotation...

Keywords - Biological processi

Sugar transport, Transport

Enzyme and pathway databases

ReactomeiREACT_22433. 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
ProteomesiUP000005640: Chromosome 3

Organism-specific databases

HGNCiHGNC:30220. RFT1.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei16 – 3621Helical; Reviewed predictionAdd
BLAST
Transmembranei42 – 6221Helical; Reviewed predictionAdd
BLAST
Transmembranei85 – 10521Helical; Reviewed predictionAdd
BLAST
Transmembranei123 – 14321Helical; Reviewed predictionAdd
BLAST
Transmembranei155 – 17420Helical; Reviewed predictionAdd
BLAST
Transmembranei187 – 20721Helical; Reviewed predictionAdd
BLAST
Transmembranei335 – 35521Helical; Reviewed predictionAdd
BLAST
Transmembranei376 – 39621Helical; Reviewed predictionAdd
BLAST
Transmembranei404 – 42320Helical; Reviewed predictionAdd
BLAST
Transmembranei428 – 45023Helical; Reviewed predictionAdd
BLAST
Transmembranei470 – 49021Helical; Reviewed predictionAdd
BLAST
Transmembranei499 – 51921Helical; Reviewed predictionAdd
BLAST

GO - Cellular componenti

  1. integral component of membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Congenital disorder of glycosylation 1N (CDG1N) [MIM:612015]: 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.
Note: The disease is caused by mutations affecting the gene represented in this entry.2 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti67 – 671R → C in CDG1N. 2 Publications
VAR_044334
Natural varianti152 – 1521K → E in CDG1N. 1 Publication
VAR_062572
Natural varianti298 – 2981E → K in CDG1N. 1 Publication
VAR_062573

Keywords - Diseasei

Congenital disorder of glycosylation, Disease mutation

Organism-specific databases

MIMi612015. phenotype.
Orphaneti244310. RFT1-CDG.
PharmGKBiPA134960002.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 541541Protein RFT1 homologPRO_0000311286Add
BLAST

Proteomic databases

MaxQBiQ96AA3.
PaxDbiQ96AA3.
PRIDEiQ96AA3.

PTM databases

PhosphoSiteiQ96AA3.

Expressioni

Gene expression databases

ArrayExpressiQ96AA3.
BgeeiQ96AA3.
CleanExiHS_RFT1.
GenevestigatoriQ96AA3.

Interactioni

Protein-protein interaction databases

BioGridi124888. 2 interactions.
IntActiQ96AA3. 1 interaction.
STRINGi9606.ENSP00000296292.

Structurei

3D structure databases

ProteinModelPortaliQ96AA3.

Family & Domainsi

Sequence similaritiesi

Belongs to the RFT1 family.

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG267200.
HOGENOMiHOG000007364.
HOVERGENiHBG106670.
InParanoidiQ96AA3.
KOiK06316.
OMAiLCCEQGW.
OrthoDBiEOG7H4DT4.
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

MGSQEVLGHA ARLASSGLLL QVLFRLITFV LNAFILRFLS KEIVGVVNVR    50
LTLLYSTTLF LAREAFRRAC LSGGTQRDWS QTLNLLWLTV PLGVFWSLFL 100
GWIWLQLLEV PDPNVVPHYA TGVVLFGLSA VVELLGEPFW VLAQAHMFVK 150
LKVIAESLSV ILKSVLTAFL VLWLPHWGLY IFSLAQLFYT TVLVLCYVIY 200
FTKLLGSPES TKLQTLPVSR ITDLLPNITR NGAFINWKEA KLTWSFFKQS 250
FLKQILTEGE RYVMTFLNVL NFGDQGVYDI VNNLGSLVAR LIFQPIEESF 300
YIFFAKVLER GKDATLQKQE DVAVAAAVLE SLLKLALLAG LTITVFGFAY 350
SQLALDIYGG TMLSSGSGPV LLRSYCLYVL LLAINGVTEC FTFAAMSKEE 400
VDRYNFVMLA LSSSFLVLSY LLTRWCGSVG FILANCFNMG IRITQSLCFI 450
HRYYRRSPHR PLAGLHLSPV LLGTFALSGG VTAVSEVFLC CEQGWPARLA 500
HIAVGAFCLG ATLGTAFLTE TKLIHFLRTQ LGVPRRTDKM T 541
Length:541
Mass (Da):60,335
Last modified:December 1, 2001 - v1
Checksum:i2988BA1A2EB769E0
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti67 – 671R → C in CDG1N. 2 Publications
VAR_044334
Natural varianti152 – 1521K → E in CDG1N. 1 Publication
VAR_062572
Natural varianti185 – 1851A → T.
Corresponds to variant rs35221142 [ dbSNP | Ensembl ].
VAR_037215
Natural varianti298 – 2981E → K in CDG1N. 1 Publication
VAR_062573

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.3. human.

Polymorphism databases

DMDMi74731102.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AJ318099 mRNA. Translation: CAC69544.1 .
CH471055 Genomic DNA. Translation: EAW65277.1 .
BC006846 mRNA. Translation: AAH06846.1 .
BC043595 mRNA. Translation: AAH43595.1 .
CCDSi CCDS2869.1.
RefSeqi NP_443091.1. NM_052859.3.
UniGenei Hs.631910.

3D structure databases

ProteinModelPortali Q96AA3.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 124888. 2 interactions.
IntActi Q96AA3. 1 interaction.
STRINGi 9606.ENSP00000296292.

Protein family/group databases

TCDBi 2.A.66.3.2. the multidrug/oligosaccharidyl-lipid/polysaccharide (mop) flippase superfamily.

PTM databases

PhosphoSitei Q96AA3.

Polymorphism databases

DMDMi 74731102.

Proteomic databases

MaxQBi Q96AA3.
PaxDbi Q96AA3.
PRIDEi Q96AA3.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000296292 ; ENSP00000296292 ; ENSG00000163933 .
GeneIDi 91869.
KEGGi hsa:91869.
UCSCi uc003dgj.3. human.

Organism-specific databases

CTDi 91869.
GeneCardsi GC03M053122.
GeneReviewsi RFT1.
HGNCi HGNC:30220. RFT1.
MIMi 611908. gene.
612015. phenotype.
neXtProti NX_Q96AA3.
Orphaneti 244310. RFT1-CDG.
PharmGKBi PA134960002.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG267200.
HOGENOMi HOG000007364.
HOVERGENi HBG106670.
InParanoidi Q96AA3.
KOi K06316.
OMAi LCCEQGW.
OrthoDBi EOG7H4DT4.
PhylomeDBi Q96AA3.
TreeFami TF313129.

Enzyme and pathway databases

Reactomei REACT_22433. Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein.

Miscellaneous databases

ChiTaRSi RFT1. human.
GeneWikii RFT1.
GenomeRNAii 91869.
NextBioi 77504.
PROi Q96AA3.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q96AA3.
Bgeei Q96AA3.
CleanExi HS_RFT1.
Genevestigatori Q96AA3.

Family and domain databases

InterProi IPR007594. RFT1.
[Graphical view ]
PANTHERi PTHR13117. PTHR13117. 1 hit.
Pfami PF04506. Rft-1. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Common origin and evolution of glycosyltransferases using Dol-P-monosaccharides as donor substrate."
    Oriol R., Martinez-Duncker I., Chantret I., Mollicone R., Codogno P.
    Mol. Biol. Evol. 19:1451-1463(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    Tissue: Embryo.
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Brain and Placenta.
  4. Cited for: FUNCTION, VARIANT CDG1N CYS-67.
  5. Cited for: VARIANTS CDG1N CYS-67; GLU-152 AND LYS-298.

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: September 3, 2014
This is version 99 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

External Data

Dasty 3

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