Human Gene GFUS (uc003yza.2)
  Description: Homo sapiens tissue specific transplantation antigen P35B (GFUS), mRNA.
RefSeq Summary (NM_003313): Tissue specific transplantation antigen P35B is a NADP(H)-binding protein. It catalyze the two-step epimerase and the reductase reactions in GDP-D-mannose metabolism, converting GDP-4-keto-6-D-deoxymannose to GDP-L-fucose. GDP-L-fucose is the substrate of several fucosyltransferases involved in the expression of many glycoconjugates, including blood group ABH antigens and developmental adhesion antigens. Mutations in this gene may cause leukocyte adhesion deficiency, type II. [provided by RefSeq, Jul 2008].
Transcript (Including UTRs)
   Position: hg19 chr8:144,694,788-144,699,622 Size: 4,835 Total Exon Count: 11 Strand: -
Coding Region
   Position: hg19 chr8:144,695,080-144,698,882 Size: 3,803 Coding Exon Count: 10 

Page IndexSequence and LinksUniProtKB CommentsPrimersGene AllelesRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr8:144,694,788-144,699,622)mRNA (may differ from genome)Protein (321 aa)
Gene SorterGenome BrowserOther Species FASTATable SchemaAlphaFoldBioGPS
EnsemblEntrez GeneExonPrimerGeneCardsGeneNetworkH-INV
HPRDLynxMGIneXtProtOMIMPubMed
ReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: FCL_HUMAN
DESCRIPTION: RecName: Full=GDP-L-fucose synthase; EC=1.1.1.271; AltName: Full=GDP-4-keto-6-deoxy-D-mannose-3,5-epimerase-4-reductase; AltName: Full=Protein FX; AltName: Full=Red cell NADP(H)-binding protein; AltName: Full=Short-chain dehydrogenase/reductase family 4E member 1;
FUNCTION: Two step NADP-dependent conversion of GDP-4-dehydro-6- deoxy-D-mannose to GDP-fucose, involving an epimerase and a reductase reaction.
CATALYTIC ACTIVITY: GDP-beta-L-fucose + NADP(+) = GDP-4-dehydro-6- deoxy-alpha-D-mannose + NADPH.
PATHWAY: Nucleotide-sugar biosynthesis; GDP-L-fucose biosynthesis via de novo pathway; GDP-L-fucose from GDP-alpha-D-mannose: step 2/2.
SUBUNIT: Homodimer.
SIMILARITY: Belongs to the fucose synthase family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 52.67 RPKM in Stomach
Total median expression: 894.78 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -8.5036-0.236 Picture PostScript Text
3' UTR -112.90292-0.387 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001509 - Epimerase_deHydtase
IPR016040 - NAD(P)-bd_dom

Pfam Domains:
PF01370 - NAD dependent epimerase/dehydratase family
PF04321 - RmlD substrate binding domain
PF16363 - GDP-mannose 4,6 dehydratase

SCOP Domains:
51735 - NAD(P)-binding Rossmann-fold domains

ModBase Predicted Comparative 3D Structure on Q13630
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003824 catalytic activity
GO:0009055 electron carrier activity
GO:0016491 oxidoreductase activity
GO:0016853 isomerase activity
GO:0042356 GDP-4-dehydro-D-rhamnose reductase activity
GO:0042802 identical protein binding
GO:0047918 GDP-mannose 3,5-epimerase activity
GO:0050577 GDP-L-fucose synthase activity
GO:0050662 coenzyme binding

Biological Process:
GO:0007159 leukocyte cell-cell adhesion
GO:0008152 metabolic process
GO:0009226 nucleotide-sugar biosynthetic process
GO:0019673 GDP-mannose metabolic process
GO:0022900 electron transport chain
GO:0042351 'de novo' GDP-L-fucose biosynthetic process
GO:0055114 oxidation-reduction process

Cellular Component:
GO:0005829 cytosol
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  AK096752 - Homo sapiens cDNA FLJ39433 fis, clone PROST2004142, highly similar to GDP-L-fucose synthetase (EC 1.1.1.271).
FW339989 - Screening.
HM005668 - Homo sapiens clone HTL-T-45a testis tissue sperm-binding protein Li 45a mRNA, complete cds.
BC001941 - Homo sapiens tissue specific transplantation antigen P35B, mRNA (cDNA clone MGC:4302 IMAGE:2819332), complete cds.
LP895607 - Sequence 471 from Patent EP3253886.
U58766 - Homo sapiens FX mRNA, complete cds.
BC093061 - Homo sapiens tissue specific transplantation antigen P35B, mRNA (cDNA clone MGC:111147 IMAGE:30370158), complete cds.
JD516615 - Sequence 497639 from Patent EP1572962.
JD191011 - Sequence 172035 from Patent EP1572962.
JD140549 - Sequence 121573 from Patent EP1572962.
JD217111 - Sequence 198135 from Patent EP1572962.
JD323121 - Sequence 304145 from Patent EP1572962.
JD339933 - Sequence 320957 from Patent EP1572962.
JD156958 - Sequence 137982 from Patent EP1572962.
JD470953 - Sequence 451977 from Patent EP1572962.
JD462218 - Sequence 443242 from Patent EP1572962.
JD056739 - Sequence 37763 from Patent EP1572962.
AK313560 - Homo sapiens cDNA, FLJ94122, Homo sapiens tissue specific transplantation antigen P35B (TSTA3),mRNA.
HQ447820 - Synthetic construct Homo sapiens clone IMAGE:100071163; CCSB003805_01 tissue specific transplantation antigen P35B (TSTA3) gene, encodes complete protein.
KJ892326 - Synthetic construct Homo sapiens clone ccsbBroadEn_01720 TSTA3 gene, encodes complete protein.
CU674946 - Synthetic construct Homo sapiens gateway clone IMAGE:100018908 5' read TSTA3 mRNA.
AK303125 - Homo sapiens cDNA FLJ57685 complete cds, highly similar to GDP-L-fucose synthetase (EC 1.1.1.271).

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00051 - Fructose and mannose metabolism
hsa00520 - Amino sugar and nucleotide sugar metabolism
hsa01100 - Metabolic pathways

Reactome (by CSHL, EBI, and GO)

Protein Q13630 (Reactome details) participates in the following event(s):

R-HSA-6787642 TSTA3 dimer reduces GDP-KDGal to GDP-Fuc
R-HSA-6787623 TSTA3 dimer epimerises GDP-DHDMan to GDP-KDGal
R-HSA-6787639 GDP-fucose biosynthesis
R-HSA-446219 Synthesis of substrates in N-glycan biosythesis
R-HSA-446193 Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
R-HSA-446203 Asparagine N-linked glycosylation
R-HSA-597592 Post-translational protein modification
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: B2R8Y7, BC001941, D3DWK5, FCL_HUMAN, NM_003313, NP_003304, Q13630, Q567Q9, Q9UDG7, SDR4E1, TSTA3
UCSC ID: uc003yza.2
RefSeq Accession: NM_003313
Protein: Q13630 (aka FCL_HUMAN)
CCDS: CCDS6408.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: BC001941.1
exon count: 11CDS single in 3' UTR: no RNA size: 1315
ORF size: 966CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2123.00frame shift in genome: no % Coverage: 98.33
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.