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Q96AA3 (RFT1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 98. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Protein RFT1 homolog
Gene names
Name:RFT1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length541 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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. Ref.4

Subcellular location

Membrane; Multi-pass membrane protein Potential.

Involvement in disease

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. Ref.4 Ref.5

Sequence similarities

Belongs to the RFT1 family.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 541541Protein RFT1 homolog
PRO_0000311286

Regions

Transmembrane16 – 3621Helical; Potential
Transmembrane42 – 6221Helical; Potential
Transmembrane85 – 10521Helical; Potential
Transmembrane123 – 14321Helical; Potential
Transmembrane155 – 17420Helical; Potential
Transmembrane187 – 20721Helical; Potential
Transmembrane335 – 35521Helical; Potential
Transmembrane376 – 39621Helical; Potential
Transmembrane404 – 42320Helical; Potential
Transmembrane428 – 45023Helical; Potential
Transmembrane470 – 49021Helical; Potential
Transmembrane499 – 51921Helical; Potential

Natural variations

Natural variant671R → C in CDG1N. Ref.4 Ref.5
VAR_044334
Natural variant1521K → E in CDG1N. Ref.5
VAR_062572
Natural variant1851A → T.
Corresponds to variant rs35221142 [ dbSNP | Ensembl ].
VAR_037215
Natural variant2981E → K in CDG1N. Ref.5
VAR_062573

Sequences

Sequence LengthMass (Da)Tools
Q96AA3 [UniParc].

Last modified December 1, 2001. Version 1.
Checksum: 2988BA1A2EB769E0

FASTA54160,335
        10         20         30         40         50         60 
MGSQEVLGHA ARLASSGLLL QVLFRLITFV LNAFILRFLS KEIVGVVNVR LTLLYSTTLF 

        70         80         90        100        110        120 
LAREAFRRAC LSGGTQRDWS QTLNLLWLTV PLGVFWSLFL GWIWLQLLEV PDPNVVPHYA 

       130        140        150        160        170        180 
TGVVLFGLSA VVELLGEPFW VLAQAHMFVK LKVIAESLSV ILKSVLTAFL VLWLPHWGLY 

       190        200        210        220        230        240 
IFSLAQLFYT TVLVLCYVIY FTKLLGSPES TKLQTLPVSR ITDLLPNITR NGAFINWKEA 

       250        260        270        280        290        300 
KLTWSFFKQS FLKQILTEGE RYVMTFLNVL NFGDQGVYDI VNNLGSLVAR LIFQPIEESF 

       310        320        330        340        350        360 
YIFFAKVLER GKDATLQKQE DVAVAAAVLE SLLKLALLAG LTITVFGFAY SQLALDIYGG 

       370        380        390        400        410        420 
TMLSSGSGPV LLRSYCLYVL LLAINGVTEC FTFAAMSKEE VDRYNFVMLA LSSSFLVLSY 

       430        440        450        460        470        480 
LLTRWCGSVG FILANCFNMG IRITQSLCFI HRYYRRSPHR PLAGLHLSPV LLGTFALSGG 

       490        500        510        520        530        540 
VTAVSEVFLC CEQGWPARLA HIAVGAFCLG ATLGTAFLTE TKLIHFLRTQ LGVPRRTDKM 


T 

« Hide

References

« Hide 'large scale' references
[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]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
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]"Human RFT1 deficiency leads to a disorder of N-linked glycosylation."
Haeuptle M.A., Pujol F.M., Neupert C., Winchester B., Kastaniotis A.J., Aebi M., Hennet T.
Am. J. Hum. Genet. 82:600-606(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, VARIANT CDG1N CYS-67.
[5]"RFT1 deficiency in three novel CDG patients."
Vleugels W., Haeuptle M.A., Ng B.G., Michalski J.-C., Battini R., Dionisi-Vici C., Ludman M.D., Jaeken J., Foulquier F., Freeze H.H., Matthijs G., Hennet T.
Hum. Mutat. 30:1428-1434(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CDG1N CYS-67; GLU-152 AND LYS-298.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AJ318099 mRNA. Translation: CAC69544.1.
CH471055 Genomic DNA. Translation: EAW65277.1.
BC006846 mRNA. Translation: AAH06846.1.
BC043595 mRNA. Translation: AAH43595.1.
CCDSCCDS2869.1.
RefSeqNP_443091.1. NM_052859.3.
UniGeneHs.631910.

3D structure databases

ProteinModelPortalQ96AA3.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid124888. 2 interactions.
IntActQ96AA3. 1 interaction.
STRING9606.ENSP00000296292.

Protein family/group databases

TCDB2.A.66.3.2. the multidrug/oligosaccharidyl-lipid/polysaccharide (mop) flippase superfamily.

PTM databases

PhosphoSiteQ96AA3.

Polymorphism databases

DMDM74731102.

Proteomic databases

MaxQBQ96AA3.
PaxDbQ96AA3.
PRIDEQ96AA3.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000296292; ENSP00000296292; ENSG00000163933.
GeneID91869.
KEGGhsa:91869.
UCSCuc003dgj.3. human.

Organism-specific databases

CTD91869.
GeneCardsGC03M053122.
GeneReviewsRFT1.
HGNCHGNC:30220. RFT1.
MIM611908. gene.
612015. phenotype.
neXtProtNX_Q96AA3.
Orphanet244310. RFT1-CDG.
PharmGKBPA134960002.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG267200.
HOGENOMHOG000007364.
HOVERGENHBG106670.
InParanoidQ96AA3.
KOK06316.
OMALCCEQGW.
OrthoDBEOG7H4DT4.
PhylomeDBQ96AA3.
TreeFamTF313129.

Enzyme and pathway databases

ReactomeREACT_17015. Metabolism of proteins.

Gene expression databases

ArrayExpressQ96AA3.
BgeeQ96AA3.
CleanExHS_RFT1.
GenevestigatorQ96AA3.

Family and domain databases

InterProIPR007594. RFT1.
[Graphical view]
PANTHERPTHR13117. PTHR13117. 1 hit.
PfamPF04506. Rft-1. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSRFT1. human.
GeneWikiRFT1.
GenomeRNAi91869.
NextBio77504.
PROQ96AA3.
SOURCESearch...

Entry information

Entry nameRFT1_HUMAN
AccessionPrimary (citable) accession number: Q96AA3
Secondary accession number(s): Q96J03
Entry history
Integrated into UniProtKB/Swiss-Prot: November 13, 2007
Last sequence update: December 1, 2001
Last modified: July 9, 2014
This is version 98 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 3

Human chromosome 3: entries, gene names and cross-references to MIM