FBP1 fructose-bisphosphatase 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: FBP1provided by HGNC
Official Full Name: fructose-bisphosphatase 1provided by HGNC
Primary source: HGNC:HGNC:3606
See related: Ensembl:ENSG00000165140 MIM:611570; AllianceGenome:HGNC:3606
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: FBP
Summary: 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]
Expression: Biased expression in liver (RPKM 175.9), kidney (RPKM 118.4) and 9 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 9q22.32

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (94603133..94640263, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (106772462..106809573, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (97365415..97402545, complement)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Fructose-1,6-bisphosphatase 1 dephosphorylates and inhibits TERT for tumor suppression.
Title: Fructose-1,6-bisphosphatase 1 dephosphorylates and inhibits TERT for tumor suppression.
Inhibition of FBP1 expression by KMT5A through TWIST1 methylation is one of the mechanisms leading to chemoresistance in breast cancer.
Title: Inhibition of FBP1 expression by KMT5A through TWIST1 methylation is one of the mechanisms leading to chemoresistance in breast cancer.
FBP1 orchestrates keratinocyte proliferation/differentiation and suppresses psoriasis through metabolic control of histone acetylation.
Title: FBP1 orchestrates keratinocyte proliferation/differentiation and suppresses psoriasis through metabolic control of histone acetylation.
FBP1 inhibits NSCLC stemness by promoting ubiquitination of Notch1 intracellular domain and accelerating degradation.
Title: FBP1 inhibits NSCLC stemness by promoting ubiquitination of Notch1 intracellular domain and accelerating degradation.
Fructose-bisphosphatase1 (FBP1) alleviates experimental osteoarthritis by regulating Protein crumbs homolog 3 (CRB3).
Title: Fructose-bisphosphatase1 (FBP1) alleviates experimental osteoarthritis by regulating Protein crumbs homolog 3 (CRB3).
1alpha,25(OH)2D3 ameliorates insulin resistance by alleviating gammadelta T cell inflammation via enhancing fructose-1,6-bisphosphatase 1 expression.
Title: 1α,25(OH)(2)D(3) ameliorates insulin resistance by alleviating γδ T cell inflammation via enhancing fructose-1,6-bisphosphatase 1 expression.
Oncogenic Role of the NFATC2/NEDD4/FBP1 Axis in Cholangiocarcinoma.
Title: Oncogenic Role of the NFATC2/NEDD4/FBP1 Axis in Cholangiocarcinoma.
AF9 sustains glycolysis in colorectal cancer via H3K9ac-mediated PCK2 and FBP1 transcription.
Title: AF9 sustains glycolysis in colorectal cancer via H3K9ac-mediated PCK2 and FBP1 transcription.
FBP1 is a potential prognostic biomarker and correlated with tumor immunosuppressive microenvironment in glioblastoma.
Title: FBP1 is a potential prognostic biomarker and correlated with tumor immunosuppressive microenvironment in glioblastoma.
Immunodeficiency with susceptibility to lymphoma with complex genotype affecting energy metabolism (FBP1, ACAD9) and vesicle trafficking (RAB27A).
Title: Immunodeficiency with susceptibility to lymphoma with complex genotype affecting energy metabolism (FBP1, ACAD9) and vesicle trafficking (RAB27A).

Submit: New GeneRIF Correction See all GeneRIFs (82)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Fructose-biphosphatase deficiency MedGen: C0016756 OMIM: 229700 GeneReviews: Fructose-1,6-Bisphosphatase Deficiency	Compare labs

EBI GWAS Catalog

Description
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
matrix	gag	HIV-1 Matrix activates fructose 1,6-bisphosphatase gene expression by induction of a 1alpha-hydroxylase activity	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

GDB:311304 (e-PCR)
- UniSTS:156426

RH109 (e-PCR)
- UniSTS:37937

SHGC-147916 (e-PCR)
- UniSTS:172900

SHGC-12730 (e-PCR)
- UniSTS:49080

GDB:583921 (e-PCR)
- UniSTS:157887

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables AMP binding	IDA Inferred from Direct Assay more info	PubMed
enables RNA polymerase II-specific DNA-binding transcription factor binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables fructose 1,6-bisphosphate 1-phosphatase activity	IBA Inferred from Biological aspect of Ancestor more info
enables fructose 1,6-bisphosphate 1-phosphatase activity	IDA Inferred from Direct Assay more info	PubMed
enables fructose 1,6-bisphosphate 1-phosphatase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables metal ion binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables monosaccharide binding	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cellular hyperosmotic salinity response	IEA Inferred from Electronic Annotation more info
involved_in cellular hypotonic salinity response	IEA Inferred from Electronic Annotation more info
involved_in cellular response to cAMP	IEA Inferred from Electronic Annotation more info
involved_in cellular response to insulin stimulus	IEA Inferred from Electronic Annotation more info
involved_in cellular response to magnesium ion	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to phorbol 13-acetate 12-myristate	IEA Inferred from Electronic Annotation more info
involved_in cellular response to raffinose	IEA Inferred from Electronic Annotation more info
involved_in cellular response to xenobiotic stimulus	IDA Inferred from Direct Assay more info	PubMed
involved_in dephosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in dephosphorylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in fructose 1,6-bisphosphate metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in fructose 6-phosphate metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in fructose 6-phosphate metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in fructose metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in gluconeogenesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in gluconeogenesis	IEA Inferred from Electronic Annotation more info
involved_in gluconeogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in gluconeogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of Ras protein signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of cell growth	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of glycolytic process	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of glycolytic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of gluconeogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to nutrient levels	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	ISS Inferred from Sequence or Structural Similarity more info
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in nucleus	IMP Inferred from Mutant Phenotype more info	PubMed

General protein information

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Preferred Names: fructose-1,6-bisphosphatase 1

Names: D-fructose-1,6-bisphosphate 1-phosphohydrolase 1; FBPase 1; growth-inhibiting protein 17; liver FBPase

NP_000498.2

EC 3.1.3.11

NP_001121100.1

EC 3.1.3.11

XP_006717068.1

EC 3.1.3.11

XP_054218304.1

EC 3.1.3.11

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_008174.1 RefSeqGene

Range

5732..42117

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000507.4 → NP_000498.2 fructose-1,6-bisphosphatase 1

See identical proteins and their annotated locations for NP_000498.2

Status: REVIEWED

Source sequence(s)

BC012927, DA962803

Consensus CDS

CCDS6712.1

UniProtKB/Swiss-Prot

O75571, P09467, Q53F94, Q96E46

UniProtKB/TrEMBL

Q2TU34

Related

ENSP00000364475.5, ENST00000375326.9

Conserved Domains (1) summary

cd00354
Location:18 → 332

FBPase; Fructose-1,6-bisphosphatase, an enzyme that catalyzes the hydrolysis of fructose-1,6-biphosphate into fructose-6-phosphate and is critical in gluconeogenesis pathway. The alignment model also includes chloroplastic FBPases and sedoheptulose-1, ...
NM_001127628.2 → NP_001121100.1 fructose-1,6-bisphosphatase 1

See identical proteins and their annotated locations for NP_001121100.1

Status: REVIEWED

Source sequence(s)

AL161728

Consensus CDS

CCDS6712.1

UniProtKB/Swiss-Prot

O75571, P09467, Q53F94, Q96E46

UniProtKB/TrEMBL

Q2TU34

Related

ENSP00000408025.1, ENST00000415431.5

Conserved Domains (1) summary

cd00354
Location:18 → 332

FBPase; Fructose-1,6-bisphosphatase, an enzyme that catalyzes the hydrolysis of fructose-1,6-biphosphate into fructose-6-phosphate and is critical in gluconeogenesis pathway. The alignment model also includes chloroplastic FBPases and sedoheptulose-1, ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000009.12 Reference GRCh38.p14 Primary Assembly

Range

94603133..94640263 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006717005.5 → XP_006717068.1 fructose-1,6-bisphosphatase 1 isoform X1

UniProtKB/TrEMBL

A0A3B3IUC7

Conserved Domains (1) summary

cd00354
Location:2 → 250

FBPase; Fructose-1,6-bisphosphatase, an enzyme that catalyzes the hydrolysis of fructose-1,6-biphosphate into fructose-6-phosphate and is critical in gluconeogenesis pathway. The alignment model also includes chloroplastic FBPases and sedoheptulose-1, ...