Q96AA3 (RFT1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Protein RFT1 homolog

Gene names

Name:

RFT1

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	541 AA.
Sequence status	Complete.
Protein existence	Evidence 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.

Ontologies

Keywords
Biological process	Sugar transport Transport
Cellular component	Membrane
Coding sequence diversity	Polymorphism
Disease	Congenital disorder of glycosylation Disease mutation
Domain	Transmembrane Transmembrane helix
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	carbohydrate transport Inferred from electronic annotation. Source: UniProtKB-KW dolichol-linked oligosaccharide biosynthetic process Traceable author statement. Source: Reactome post-translational protein modification Traceable author statement. Source: Reactome protein N-linked glycosylation via asparagine Traceable author statement. Source: Reactome
Cellular_component	integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW
Molecular_function	lipid transporter activity Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 541	541	Protein RFT1 homolog		PRO_0000311286
Regions
	Transmembrane	16 – 36	21	Helical; Potential
	Transmembrane	42 – 62	21	Helical; Potential
	Transmembrane	85 – 105	21	Helical; Potential
	Transmembrane	123 – 143	21	Helical; Potential
	Transmembrane	155 – 174	20	Helical; Potential
	Transmembrane	187 – 207	21	Helical; Potential
	Transmembrane	335 – 355	21	Helical; Potential
	Transmembrane	376 – 396	21	Helical; Potential
	Transmembrane	404 – 423	20	Helical; Potential
	Transmembrane	428 – 450	23	Helical; Potential
	Transmembrane	470 – 490	21	Helical; Potential
	Transmembrane	499 – 519	21	Helical; Potential
Natural variations
	Natural variant	67	1	R → C in CDG1N. Ref.4 Ref.5		VAR_044334
	Natural variant	152	1	K → E in CDG1N. Ref.5		VAR_062572
	Natural variant	185	1	A → T. Corresponds to variant rs35221142 [ dbSNP | Ensembl ].		VAR_037215
	Natural variant	298	1	E → K in CDG1N. Ref.5		VAR_062573

Sequences

	Sequence		Length	Mass (Da)
	Q96AA3 [UniParc]. Last modified December 1, 2001. Version 1. Checksum: 2988BA1A2EB769E0	FASTA	541	60,335
	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

References

	« Hide 'large scale' referencesShow '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. , 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.
IPI	IPI00059368.
RefSeq	NP_443091.1. NM_052859.3.
UniGene	Hs.631910.
3D structure databases
ProteinModelPortal	Q96AA3.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q96AA3. 1 interaction.
STRING	9606.ENSP00000296292.
Protein family/group databases
TCDB	2.A.66.3.2. multidrug/oligosaccharidyl-lipid/polysaccharide (MOP) flippase superfamily.
PTM databases
PhosphoSite	Q96AA3.
Polymorphism databases
DMDM	74731102.
Proteomic databases
PaxDb	Q96AA3.
PRIDE	Q96AA3.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000296292; ENSP00000296292; ENSG00000163933.
GeneID	91869.
KEGG	hsa:91869.
UCSC	uc003dgj.3. human.
Organism-specific databases
CTD	91869.
GeneCards	GC03M053122.
HGNC	HGNC:30220. RFT1.
MIM	611908. gene. 612015. phenotype.
neXtProt	NX_Q96AA3.
Orphanet	244310. CDG syndrome type In.
PharmGKB	PA134960002.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG267200.
HOGENOM	HOG000007364.
HOVERGEN	HBG106670.
InParanoid	Q96AA3.
KO	K06316.
OMA	FLCCEQG.
OrthoDB	EOG405S11.
PhylomeDB	Q96AA3.
Enzyme and pathway databases
Reactome	REACT_17015. Metabolism of proteins.
Gene expression databases
ArrayExpress	Q96AA3.
Bgee	Q96AA3.
CleanEx	HS_RFT1.
Genevestigator	Q96AA3.
Family and domain databases
InterPro	IPR007594. RFT1. [Graphical view]
PANTHER	PTHR13117. PTHR13117. 1 hit.
Pfam	PF04506. Rft-1. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	RFT1. human.
GenomeRNAi	91869.
NextBio	77504.
SOURCE	Search...

Entry information

Entry name

RFT1_HUMAN

Accession

Primary (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:	May 1, 2013
This is version 86 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.