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Aliases for RFT1 Gene

Aliases for RFT1 Gene

  • RFT1 Homolog 2 3 5
  • Congenital Disorder Of Glycosylation 1N 2 3
  • Putative Endoplasmic Reticulum Multispan Transmembrane Protein 3
  • RFT1, Requiring Fifty Three 1 Homolog (S. Cerevisiae) 2
  • RFT1, Requiring Fifty Three 1 Homolog 3
  • RFT1 Homolog (S. Cerevisiae) 2
  • CDG1N 3

External Ids for RFT1 Gene

Previous GeneCards Identifiers for RFT1 Gene

  • GC03U990226
  • GC03M052377
  • GC03M052980
  • GC03M053082
  • GC03M053100

Summaries for RFT1 Gene

Entrez Gene Summary for RFT1 Gene

  • This gene encodes an enzyme which catalyzes the translocation of the Man(5)GlcNAc (2)-PP-Dol intermediate from the cytoplasmic to the luminal side of the endoplasmic reticulum membrane in the pathway for the N-glycosylation of proteins. Mutations in this gene are associated with congenital disorder of glycosylation type In.[provided by RefSeq, Dec 2008]

GeneCards Summary for RFT1 Gene

RFT1 (RFT1 Homolog) is a Protein Coding gene. Diseases associated with RFT1 include congenital disorder of glycosylation, type in and shaheen syndrome. Among its related pathways are Transport to the Golgi and subsequent modification and Synthesis of substrates in N-glycan biosythesis. GO annotations related to this gene include lipid transporter activity. An important paralog of this gene is ENSG00000272305.

UniProtKB/Swiss-Prot for RFT1 Gene

  • 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.

Gene Wiki entry for RFT1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RFT1 Gene

Genomics for RFT1 Gene

Regulatory Elements for RFT1 Gene

Promoters for RFT1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around RFT1 on UCSC Golden Path with GeneCards custom track

Genomic Location for RFT1 Gene

Chromosome:
3
Start:
53,071,152 bp from pter
End:
53,130,462 bp from pter
Size:
59,311 bases
Orientation:
Minus strand

Genomic View for RFT1 Gene

Genes around RFT1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RFT1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RFT1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RFT1 Gene

Proteins for RFT1 Gene

  • Protein details for RFT1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96AA3-RFT1_HUMAN
    Recommended name:
    Protein RFT1 homolog
    Protein Accession:
    Q96AA3
    Secondary Accessions:
    • Q96J03

    Protein attributes for RFT1 Gene

    Size:
    541 amino acids
    Molecular mass:
    60335 Da
    Quaternary structure:
    No Data Available

neXtProt entry for RFT1 Gene

Proteomics data for RFT1 Gene at MOPED

Post-translational modifications for RFT1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RFT1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for RFT1 Gene

Domains & Families for RFT1 Gene

Protein Domains for RFT1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for RFT1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96AA3

UniProtKB/Swiss-Prot:

RFT1_HUMAN :
  • Belongs to the RFT1 family.
Family:
  • Belongs to the RFT1 family.
genes like me logo Genes that share domains with RFT1: view

No data available for Gene Families for RFT1 Gene

Function for RFT1 Gene

Molecular function for RFT1 Gene

UniProtKB/Swiss-Prot 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.
genes like me logo Genes that share phenotypes with RFT1: view

Human Phenotype Ontology for RFT1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for RFT1 Gene

miRTarBase miRNAs that target RFT1

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for RFT1 Gene

Localization for RFT1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RFT1 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RFT1 Gene COMPARTMENTS Subcellular localization image for RFT1 gene
Compartment Confidence
endoplasmic reticulum 4
plasma membrane 3

No data available for Gene Ontology (GO) - Cellular Components for RFT1 Gene

Pathways & Interactions for RFT1 Gene

genes like me logo Genes that share pathways with RFT1: view

Gene Ontology (GO) - Biological Process for RFT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006488 dolichol-linked oligosaccharide biosynthetic process TAS --
GO:0006869 lipid transport IEA --
GO:0034203 glycolipid translocation IBA --
GO:0043687 post-translational protein modification TAS --
genes like me logo Genes that share ontologies with RFT1: view

No data available for SIGNOR curated interactions for RFT1 Gene

Drugs & Compounds for RFT1 Gene

No Compound Related Data Available

Transcripts for RFT1 Gene

Unigene Clusters for RFT1 Gene

RFT1 homolog (S. cerevisiae):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for RFT1 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13
SP1: -
SP2: -
SP3: - -
SP4:
SP5: - -

Relevant External Links for RFT1 Gene

GeneLoc Exon Structure for
RFT1
ECgene alternative splicing isoforms for
RFT1

Expression for RFT1 Gene

mRNA expression in normal human tissues for RFT1 Gene

Protein differential expression in normal tissues from HIPED for RFT1 Gene

This gene is overexpressed in Monocytes (12.1), Heart (11.3), and Lymph node (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for RFT1 Gene



SOURCE GeneReport for Unigene cluster for RFT1 Gene Hs.631910

genes like me logo Genes that share expression patterns with RFT1: view

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for RFT1 Gene

Orthologs for RFT1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for RFT1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RFT1 36
  • 99 (a)
OneToOne
RFT1 35
  • 99.38 (n)
  • 98.89 (a)
cow
(Bos Taurus)
Mammalia RFT1 35
  • 89.4 (n)
  • 90.94 (a)
RFT1 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RFT1 36
  • 91 (a)
OneToOne
RFT1 35
  • 89.77 (n)
  • 91.5 (a)
mouse
(Mus musculus)
Mammalia Rft1 16
Rft1 35
  • 85.34 (n)
  • 87.43 (a)
Rft1 36
  • 87 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RFT1 36
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 79 (a)
OneToMany
-- 36
  • 76 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Rft1 35
  • 85.15 (n)
  • 87.25 (a)
chicken
(Gallus gallus)
Aves RFT1 35
  • 71.08 (n)
  • 71.46 (a)
RFT1 36
  • 70 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RFT1 36
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rft1 35
  • 65.47 (n)
  • 66.79 (a)
zebrafish
(Danio rerio)
Actinopterygii rft1 36
  • 64 (a)
OneToMany
rft1 35
  • 65.24 (n)
  • 63.82 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004419 35
  • 47.12 (n)
  • 39.02 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG3149 35
  • 48.6 (n)
  • 41.04 (a)
BcDNA:GH08388 37
  • 37 (a)
CG3149 36
  • 36 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ZK180.3 37
  • 29 (a)
ZK180.3 35
  • 43.69 (n)
  • 30.87 (a)
ZK180.3 36
  • 28 (a)
OneToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR015W 35
  • 42.75 (n)
  • 31.25 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RFT1 35
  • 42.28 (n)
  • 30.05 (a)
RFT1 36
  • 24 (a)
OneToMany
RFT1 38
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E10451g 35
  • 41.12 (n)
  • 29.44 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G07630 35
  • 44.92 (n)
  • 36.23 (a)
rice
(Oryza sativa)
Liliopsida Os07g0486100 35
  • 47.96 (n)
  • 37.55 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU05783 35
  • 41.31 (n)
  • 31.38 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes rft1 35
  • 41.06 (n)
  • 30.5 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 49 (a)
OneToMany
Species with no ortholog for RFT1:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for RFT1 Gene

ENSEMBL:
Gene Tree for RFT1 (if available)
TreeFam:
Gene Tree for RFT1 (if available)

Paralogs for RFT1 Gene

Paralogs for RFT1 Gene

genes like me logo Genes that share paralogs with RFT1: view

Variants for RFT1 Gene

Sequence variations from dbSNP and Humsavar for RFT1 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs35221142 - 53,121,704(+) CTGGG(C/T)CAAAG nc-transcript-variant, upstream-variant-2KB, reference, missense
VAR_044334 Congenital disorder of glycosylation 1N (CDG1N)
VAR_062572 Congenital disorder of glycosylation 1N (CDG1N)
VAR_062573 Congenital disorder of glycosylation 1N (CDG1N)
rs891368 -- 53,089,257(-) TGCTG(C/T)TTAAT intron-variant, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for RFT1 Gene

Variant ID Type Subtype PubMed ID
nsv822095 CNV Gain 20364138
nsv460553 CNV Loss 19166990
nsv834699 CNV Loss 17160897

Variation tolerance for RFT1 Gene

Residual Variation Intolerance Score: 65.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.98; 68.21% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RFT1 Gene

HapMap Linkage Disequilibrium report
RFT1
Human Gene Mutation Database (HGMD)
RFT1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RFT1 Gene

Disorders for RFT1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for RFT1 Gene - From: OMIM, ClinVar, GeneTests, Swiss-Prot, and GeneCards

Disorder Aliases PubMed IDs
congenital disorder of glycosylation, type in
  • congenital disorder of glycosylation
shaheen syndrome
  • shns
muscular dystrophy-dystroglycanopathy , type a, 9
  • muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies a9
spinocerebellar ataxia 40
  • spinocerebellar ataxia type 40
acid-labile subunit, deficiency of
  • acid-labile subunit deficiency
- elite association - COSMIC cancer census association via MalaCards
Search RFT1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

RFT1_HUMAN
  • 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. {ECO:0000269 PubMed:18313027, ECO:0000269 PubMed:19701946}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for RFT1

Genetic Association Database (GAD)
RFT1
Human Genome Epidemiology (HuGE) Navigator
RFT1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RFT1
genes like me logo Genes that share disorders with RFT1: view

No data available for Genatlas for RFT1 Gene

Publications for RFT1 Gene

  1. Human RFT1 deficiency leads to a disorder of N-linked glycosylation. (PMID: 18313027) Haeuptle M.A. … Hennet T. (Am. J. Hum. Genet. 2008) 2 3 4 67
  2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 2 3
  3. Phospho-tyrosine dependent protein-protein interaction network. (PMID: 25814554) Grossmann A. … Stelzl U. (Mol. Syst. Biol. 2015) 3
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3

Products for RFT1 Gene

Sources for RFT1 Gene

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