Human Gene FBP1 (ENST00000414122.1) from GENCODE V44
  Description: Belongs to the FBPase class 1 family. (from UniProt Q5VZC3)
RefSeq Summary (NM_001127628): Fructose-1,6-bisphosphatase 1, a gluconeogenesis regulatory enzyme, catalyzes the hydrolysis of fructose 1,6-bisphosphate to fructose 6-phosphate and inorganic phosphate. Fructose-1,6-diphosphatase deficiency is associated with hypoglycemia and metabolic acidosis. [provided by RefSeq, Jul 2008]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments.
Gencode Transcript: ENST00000414122.1
Gencode Gene: ENSG00000165140.12
Transcript (Including UTRs)
   Position: hg38 chr9:94,606,815-94,640,137 Size: 33,323 Total Exon Count: 5 Strand: -
Coding Region
   Position: hg38 chr9:94,606,815-94,620,409 Size: 13,595 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesGeneReviewsMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr9:94,606,815-94,640,137)mRNA (may differ from genome)Protein (151 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblExonPrimerGencodeGeneCardsHGNC
LynxMalacardsMGIPubMedUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: Q5VZC3_HUMAN
DESCRIPTION: SubName: Full=Fructose-1,6-bisphosphatase 1; Flags: Fragment;
SIMILARITY: Belongs to the FBPase class 1 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


-  MalaCards Disease Associations
  MalaCards Gene Search: FBP1
Diseases sorted by gene-association score: fructose-1,6-bisphosphatase deficiency* (1699), hypoglycemia (13), metabolic acidosis (12), lactic acidosis (5)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 225.46 RPKM in Liver
Total median expression: 727.41 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 -35.60176-0.202 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
IPR000146 - FBPase_class-1/SBPase

Pfam Domains:
PF00316 - Fructose-1-6-bisphosphatase, N-terminal domain

ModBase Predicted Comparative 3D Structure on Q5VZC3
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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
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0016787 hydrolase activity
GO:0016791 phosphatase activity
GO:0042132 fructose 1,6-bisphosphate 1-phosphatase activity

Biological Process:
GO:0005975 carbohydrate metabolic process
GO:0016311 dephosphorylation


-  Descriptions from all associated GenBank mRNAs
  BC012927 - Homo sapiens fructose-1,6-bisphosphatase 1, mRNA (cDNA clone MGC:21278 IMAGE:4517633), complete cds.
AK223395 - Homo sapiens mRNA for fructose-1,6-bisphosphatase 1 variant, clone: FCC107D09.
L10320 - Human fructose-1,6-bisphosphatase homotetramer gene, complete cds.
AK292199 - Homo sapiens cDNA FLJ75786 complete cds, highly similar to Homo sapiens fructose-1,6-bisphosphatase 1 (FBP1), mRNA.
M19922 - Human fructose 1,6-bisphosphatase mRNA, complete cds.
AY544122 - Homo sapiens growth-inhibiting protein 17 mRNA, complete cds.
D26054 - Homo sapiens mRNA for fructose-1,6-bisphosphatase, complete cds.
D26055 - Homo sapiens mRNA for fructose-1,6-bisphosphatase, complete cds, tissue_type: liver.
D26056 - Homo sapiens mRNA for fructose-1,6-bisphosphatase, complete cds, tissue_type: kidney.
AK316583 - Homo sapiens cDNA, FLJ94876, highly similar to Homo sapiens fructose-1,6-bisphosphatase 1 (FBP1), mRNA.
KJ891148 - Synthetic construct Homo sapiens clone ccsbBroadEn_00542 FBP1 gene, encodes complete protein.
KR709624 - Synthetic construct Homo sapiens clone CCSBHm_00004167 FBP1 (FBP1) mRNA, encodes complete protein.
KR709625 - Synthetic construct Homo sapiens clone CCSBHm_00004169 FBP1 (FBP1) mRNA, encodes complete protein.
KR709626 - Synthetic construct Homo sapiens clone CCSBHm_00004170 FBP1 (FBP1) mRNA, encodes complete protein.
KR709627 - Synthetic construct Homo sapiens clone CCSBHm_00004172 FBP1 (FBP1) mRNA, encodes complete protein.
KR712246 - Synthetic construct Homo sapiens clone CCSBHm_00900206 FBP1 (FBP1) mRNA, encodes complete protein.
KR712249 - Synthetic construct Homo sapiens clone CCSBHm_00900209 FBP1 (FBP1) mRNA, encodes complete protein.
AF073475 - Homo sapiens fructose-1,6-bisphosphatase (FBP1) mRNA, partial cds.
CU680450 - Synthetic construct Homo sapiens gateway clone IMAGE:100018998 5' read FBP1 mRNA.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00010 - Glycolysis / Gluconeogenesis
hsa00030 - Pentose phosphate pathway
hsa00051 - Fructose and mannose metabolism
hsa01100 - Metabolic pathways
hsa04910 - Insulin signaling pathway

-  Other Names for This Gene
  Alternate Gene Symbols: AK292199, Q5VZC3, Q5VZC3_HUMAN, RP11-342C23.1-002, uc064ule.1
UCSC ID: ENST00000414122.1
RefSeq Accession: NM_001127628
Protein: Q5VZC3

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene FBP1:
fructose1-6-def (Fructose-1,6-Bisphosphatase Deficiency)

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