Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	2203
Gene name	Fructose-bisphosphatase 1
Gene symbol	FBP1
Synonyms (NCBI Gene)	FBP
Chromosome	9
Chromosome location	9q22.32
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

Show/Hide all (27)

SNP ID	Visualize variation	Clinical significance	Consequence
rs111437558	C>G,T	Pathogenic	Splice donor variant
rs121918188	C>T	Pathogenic	Coding sequence variant, missense variant
rs121918189	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs121918190	C>A,T	Pathogenic	Coding sequence variant, missense variant, stop gained, intron variant
rs121918191	A>G	Pathogenic	Coding sequence variant, missense variant
rs121918192	G>C	Pathogenic	Coding sequence variant, missense variant
rs139264724	G>A,T	Likely-pathogenic	Coding sequence variant, synonymous variant, stop gained
rs140222720	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs200679026	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs201508880	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs566453434	C>A,T	Pathogenic, likely-pathogenic	Missense variant, stop gained, coding sequence variant
rs757653154	->C	Pathogenic	Coding sequence variant, frameshift variant
rs758609113	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs761470205	TTTT>-	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, frameshift variant
rs765743651	A>T	Likely-pathogenic	Coding sequence variant, missense variant
rs766005419	G>A	Pathogenic	Coding sequence variant, missense variant
rs774362519	G>-,GG	Pathogenic	Coding sequence variant, frameshift variant
rs780803192	C>T	Pathogenic	Coding sequence variant, missense variant
rs1057517733	T>CC	Pathogenic	Coding sequence variant, frameshift variant
rs1060499726	CCCCATAAGG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1064795826	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1085308003	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554682769	->GTGCAG	Pathogenic	Coding sequence variant, inframe insertion, intron variant
rs1563983184	C>A	Likely-pathogenic	Splice donor variant
rs1563983269	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1563984164	CTTTTCTCCGGTTCCACTATGATGGCGTGTTTATCTTCTTCTGACACGAGAACACACGTGGCAAAGGATGACTTTAACATGTTCATAACCAGGTCGTTGGAGAGGACGTCCAGCTTCTTAACTTGATCACCTGTCACGTTGGTAGAACCAGCAATGCCATAGC>-	Likely-pathogenic	5 prime UTR variant, splice acceptor variant, coding sequence variant, initiator codon variant
rs1563991556	AGGTGCGCGATGCCCGCCTTGCGCACCGCCGAAGAGATGGCTTTGACTGCTGTGCAGAGCGAGTTGAGCAGCTGGGTCAACTCGCCCGTGCCGCGGGCCTTCCTGCCCTCCTCCATGACGAAGCGGGTCAGGGTGTTGACGTCCGTGTCGAAGGGCGCCTGGTCAGCCAT>-	Pathogenic	Frameshift variant, intron variant, initiator codon variant

Show/Hide all (64)

miRTarBase ID	miRNA	Experiments	Reference
MIRT732692	hsa-miR-18a-5p	ImmunofluorescenceImmunohistochemistry (IHC)Luciferase reporter assayWestern blotting	33557774
MIRT732927	hsa-miR-21-3p	ImmunofluorescenceImmunohistochemistry (IHC)Luciferase reporter assayRNA-seq	34221869
MIRT732927	hsa-miR-21-3p	ImmunofluorescenceImmunohistochemistry (IHC)Luciferase reporter assayRNA-seq	34221869
MIRT990135	hsa-miR-1207-5p	CLIP-seq
MIRT990136	hsa-miR-1256	CLIP-seq
MIRT990137	hsa-miR-1321	CLIP-seq
MIRT990138	hsa-miR-139-5p	CLIP-seq
MIRT990139	hsa-miR-3120-3p	CLIP-seq
MIRT990140	hsa-miR-3140-3p	CLIP-seq
MIRT990141	hsa-miR-3162-5p	CLIP-seq
MIRT990142	hsa-miR-3165	CLIP-seq
MIRT990143	hsa-miR-3591-3p	CLIP-seq
MIRT990144	hsa-miR-3927	CLIP-seq
MIRT990145	hsa-miR-4310	CLIP-seq
MIRT990146	hsa-miR-4436b-3p	CLIP-seq
MIRT990147	hsa-miR-4451	CLIP-seq
MIRT990148	hsa-miR-4514	CLIP-seq
MIRT990149	hsa-miR-4692	CLIP-seq
MIRT990150	hsa-miR-4739	CLIP-seq
MIRT990151	hsa-miR-4756-5p	CLIP-seq
MIRT990152	hsa-miR-4763-3p	CLIP-seq
MIRT990153	hsa-miR-4802-5p	CLIP-seq
MIRT990154	hsa-miR-544	CLIP-seq
MIRT990155	hsa-miR-659	CLIP-seq
MIRT990156	hsa-miR-940	CLIP-seq
MIRT990157	hsa-miR-1179	CLIP-seq
MIRT990136	hsa-miR-1256	CLIP-seq
MIRT990137	hsa-miR-1321	CLIP-seq
MIRT990138	hsa-miR-139-5p	CLIP-seq
MIRT990139	hsa-miR-3120-3p	CLIP-seq
MIRT990141	hsa-miR-3162-5p	CLIP-seq
MIRT990142	hsa-miR-3165	CLIP-seq
MIRT990143	hsa-miR-3591-3p	CLIP-seq
MIRT990158	hsa-miR-371b-5p	CLIP-seq
MIRT990159	hsa-miR-4279	CLIP-seq
MIRT990145	hsa-miR-4310	CLIP-seq
MIRT990160	hsa-miR-4480	CLIP-seq
MIRT990161	hsa-miR-4691-5p	CLIP-seq
MIRT990162	hsa-miR-4698	CLIP-seq
MIRT990150	hsa-miR-4739	CLIP-seq
MIRT990151	hsa-miR-4756-5p	CLIP-seq
MIRT990153	hsa-miR-4802-5p	CLIP-seq
MIRT990155	hsa-miR-659	CLIP-seq
MIRT990163	hsa-miR-888	CLIP-seq
MIRT990136	hsa-miR-1256	CLIP-seq
MIRT990141	hsa-miR-3162-5p	CLIP-seq
MIRT990143	hsa-miR-3591-3p	CLIP-seq
MIRT990158	hsa-miR-371b-5p	CLIP-seq
MIRT990145	hsa-miR-4310	CLIP-seq
MIRT990162	hsa-miR-4698	CLIP-seq
MIRT990153	hsa-miR-4802-5p	CLIP-seq
MIRT990155	hsa-miR-659	CLIP-seq
MIRT990163	hsa-miR-888	CLIP-seq
MIRT990157	hsa-miR-1179	CLIP-seq
MIRT990135	hsa-miR-1207-5p	CLIP-seq
MIRT990138	hsa-miR-139-5p	CLIP-seq
MIRT990139	hsa-miR-3120-3p	CLIP-seq
MIRT990142	hsa-miR-3165	CLIP-seq
MIRT990145	hsa-miR-4310	CLIP-seq
MIRT990146	hsa-miR-4436b-3p	CLIP-seq
MIRT990148	hsa-miR-4514	CLIP-seq
MIRT990149	hsa-miR-4692	CLIP-seq
MIRT990152	hsa-miR-4763-3p	CLIP-seq
MIRT990156	hsa-miR-940	CLIP-seq

Show/Hide all (6)

Transcription factor	Regulation	Reference
NFKB1	Unknown	11023824
RELA	Unknown	11023824
SP1	Unknown	11023824
SP3	Unknown	11023824
USF1	Unknown	11023824
USF2	Unknown	11023824

Show/Hide all (49)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IMP	25043030
GO:0003824	Function	Catalytic activity	IEA
GO:0005515	Function	Protein binding	IPI	8387495, 10222032, 16189514, 16275660, 25043030, 25416956, 25910212, 28514442, 31515488, 32296183, 32814053, 33961781
GO:0005615	Component	Extracellular space	IEA
GO:0005634	Component	Nucleus	IMP	25043030
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	20096900
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	TAS
GO:0005975	Process	Carbohydrate metabolic process	IEA
GO:0006000	Process	Fructose metabolic process	IBA
GO:0006000	Process	Fructose metabolic process	TAS	7558035
GO:0006002	Process	Fructose 6-phosphate metabolic process	IBA
GO:0006002	Process	Fructose 6-phosphate metabolic process	IDA	8387495, 16442285
GO:0006002	Process	Fructose 6-phosphate metabolic process	IEA
GO:0006094	Process	Gluconeogenesis	IBA
GO:0006094	Process	Gluconeogenesis	IEA
GO:0006094	Process	Gluconeogenesis	IMP	19259699, 20096900
GO:0006094	Process	Gluconeogenesis	ISS
GO:0006111	Process	Regulation of gluconeogenesis	IMP	7558035
GO:0016208	Function	AMP binding	IDA	8387495, 10222032, 18650089
GO:0016787	Function	Hydrolase activity	IEA
GO:0016791	Function	Phosphatase activity	IEA
GO:0030308	Process	Negative regulation of cell growth	IDA	19881551
GO:0030388	Process	Fructose 1,6-bisphosphate metabolic process	IBA
GO:0031667	Process	Response to nutrient levels	IEA
GO:0032869	Process	Cellular response to insulin stimulus	IEA
GO:0042132	Function	Fructose 1,6-bisphosphate 1-phosphatase activity	IBA
GO:0042132	Function	Fructose 1,6-bisphosphate 1-phosphatase activity	IDA	8387495, 16442285, 18650089
GO:0042132	Function	Fructose 1,6-bisphosphate 1-phosphatase activity	IEA
GO:0042132	Function	Fructose 1,6-bisphosphate 1-phosphatase activity	IMP	7558035, 19259699, 20096900
GO:0042578	Function	Phosphoric ester hydrolase activity	IEA
GO:0042802	Function	Identical protein binding	IPI	16169070, 16189514, 16442285, 18650089, 21516116, 25416956, 25502805, 25910212, 31515488, 32296183
GO:0045820	Process	Negative regulation of glycolytic process	IDA	19881551
GO:0045820	Process	Negative regulation of glycolytic process	IMP	25043030
GO:0046580	Process	Negative regulation of Ras protein signal transduction	IDA	19881551
GO:0046872	Function	Metal ion binding	IEA
GO:0046872	Function	Metal ion binding	IMP	8387495
GO:0048029	Function	Monosaccharide binding	IEA
GO:0048029	Function	Monosaccharide binding	ISS
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	IMP	25043030
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:0071286	Process	Cellular response to magnesium ion	IDA	10222032
GO:0071320	Process	Cellular response to cAMP	IEA
GO:0071466	Process	Cellular response to xenobiotic stimulus	IDA	16442285, 18650089
GO:0071475	Process	Cellular hyperosmotic salinity response	IEA
GO:0071477	Process	Cellular hypotonic salinity response	IEA
GO:0097403	Process	Cellular response to raffinose	IEA
GO:1904628	Process	Cellular response to phorbol 13-acetate 12-myristate	IEA

MIM	HGNC	e!Ensembl
611570	3606	ENSG00000165140

P09467

Protein name

Fructose-1,6-bisphosphatase 1 (FBPase 1) (EC 3.1.3.11) (D-fructose-1,6-bisphosphate 1-phosphohydrolase 1) (Liver FBPase)

Protein function

Catalyzes the hydrolysis of fructose 1,6-bisphosphate to fructose 6-phosphate in the presence of divalent cations, acting as a rate-limiting enzyme in gluconeogenesis. Plays a role in regulating glucose sensing and insulin secretion of pancreati

PDB

1FTA , 2FHY , 2FIE , 2FIX , 2JJK , 2VT5 , 2WBB , 2WBD , 2Y5K , 2Y5L , 3A29 , 3KBZ , 3KC0 , 3KC1 , 4MJO , 5LDZ , 5PZQ , 5PZR , 5PZS , 5PZT , 5PZU , 5PZV , 5PZW , 5PZX , 5PZY , 5PZZ , 5Q00 , 5Q01 , 5Q02 , 5Q03 , 5Q04 , 5Q05 , 5Q06 , 5Q07 , 5Q08 , 5Q09 , 5Q0A , 5Q0B , 6LS5 , 6LW2 , 7C9Q , 7CVH , 7CVN , 7CWE , 7EZF , 7EZP , 7EZR , 7WJV , 7WVB , 8XBK

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00316	FBPase	12 → 199	Fructose-1-6-bisphosphatase, N-terminal domain	Domain
PF18913	FBPase_C	203 → 333	Fructose-1-6-bisphosphatase, C-terminal domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in pancreatic islets. {ECO:0000269|PubMed:18375435}.

Sequence

MADQAPFDTDVNTLTRFVMEEGRKARGTGELTQLLNSLCTAVKAISSAVRKAGIAHLYGI
AGSTNVTGDQVKKLDVLSNDLVMNMLKSSFATCVLVSEEDKHAIIVEPEKRGKYVVCFDP
LDGSSNIDCLVSVGTIFGIYRKKSTDEPSEKDALQPGRNLVAAGYALYGSATMLVLAMDC
GVNCFMLDPAIGEFILVDKDVKIKKKGKIYSLNEGYARDFDPAVTEYIQRKKFPPDNSAP
YGARYVGSMVADVHRTLVYGGIFLYPANKKSPNGKLRLLYECNPMAYVMEKAGGMATTGK
EAVLDVIPTDIHQRAPVILGSPDDVLEFLKVYEKHSAQ

Sequence length

338

Interactions

View interactions

	KEGG		Reactome
	Glycolysis / Gluconeogenesis Pentose phosphate pathway Fructose and mannose metabolism Metabolic pathways Carbon metabolism AMPK signaling pathway Insulin signaling pathway Glucagon signaling pathway		Gluconeogenesis

301

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
FBP1-related disorder	Pathogenic; Likely pathogenic	rs1057517733, rs780803192	RCV003922670 RCV003918122
Fructose-biphosphatase deficiency	Pathogenic; Likely pathogenic	rs1563983184, rs2131486442, rs2131509216, rs757653154, rs121918188, rs121918189, rs121918190, rs121918191, rs121918192, rs1460544928, rs780528686, rs758609113, rs2538947228, rs762007074, rs2538965763 View all (27 more)	RCV001783266 RCV001783267 RCV001994826 RCV000000915 RCV000000916 RCV000000917 RCV000000918 RCV000000919 RCV000000920 RCV002287286 RCV002468707 RCV000456119 RCV003317769 RCV003328530 RCV003496392 RCV003496910 RCV003495910 RCV003495777 RCV003496818 RCV003600817 RCV003601515 RCV003601677 RCV003601812 RCV003602114 RCV003600061 RCV003600187 RCV003600141 RCV003859110 RCV004585193 RCV003235200 RCV000681449 RCV000456113 RCV000456121 RCV000456114 RCV000631043 RCV000661945 RCV000681451 RCV000681446 RCV000681450 RCV000681445 RCV000681447 RCV000681448 RCV000760155 RCV001058500 RCV001036487

Show/Hide Unknown Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Abnormality of acid-base homeostasis	Uncertain significance	rs997295861	RCV000626694
Cervical cancer	Uncertain significance	rs28382860	RCV005900601
Familial cancer of breast	Benign	rs8192689	RCV005891329
Gastric cancer	Uncertain significance	rs376631329	RCV005923992
Impaired gluconeogenesis	Uncertain significance	rs997295861	RCV000626694
Sarcoma	Uncertain significance	rs28382860	RCV005900602
Schizophrenia	Uncertain significance	rs2538951996	RCV002463549

Show/Hide Text Mining Associations (51)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Acidosis Lactic	Associate	26549536, 37507476, 38111981
Adenocarcinoma	Associate	35477823
Adenocarcinoma of Lung	Associate	32439898, 36050791, 37737707
Adenocarcinoma of Lung	Inhibit	35404841
Alzheimer Disease	Associate	37386009
Anemia Hemolytic	Associate	14766013
Breast Neoplasms	Associate	28653874, 32626933, 32927665, 34092577
Carcinogenesis	Inhibit	22039417, 36232688
Carcinoma Hepatocellular	Inhibit	22039417, 34221105, 35404841
Carcinoma Hepatocellular	Associate	25995247, 26901106, 27079415, 29566023, 32323822, 35653238
Carcinoma Non Small Cell Lung	Associate	29984231
Carcinoma Pancreatic Ductal	Associate	28720574
Carcinoma Renal Cell	Associate	19087307, 30723389, 32737333, 33564363, 33723286, 33836688, 34596153
Cholangiocarcinoma	Associate	37285922
Colorectal Neoplasms	Inhibit	22039417
Ectopia Lentis with Ectopia of Pupil	Associate	14766013
Esophageal Squamous Cell Carcinoma	Inhibit	33232284
Fatty Liver	Associate	38034016
Fibroadenoma	Associate	34092577
Fructose 1 6 Diphosphatase Deficiency	Associate	26549536, 27101822, 28420223, 29203193, 29992913, 32020156, 37507476, 38111981
Glycosuria Renal	Associate	19087307
Hepatitis C	Associate	25995247
Hepatitis C Chronic	Stimulate	25995247
Hypoglycemia	Associate	38111981
Hypothyroidism	Associate	30332478
Hypoxia	Inhibit	32439898
Hypoxia	Associate	34596153, 34637697, 36316355
Immune System Diseases	Associate	37388727
Immunologic Deficiency Syndromes	Associate	37388727
Inflammation	Associate	36316355
Kidney Diseases	Associate	37386009
Language Development Disorders	Associate	32020156
Leukemia	Inhibit	36232688
Leukemia Myeloid Acute	Associate	36232688
Liver Failure	Associate	22039417
Liver Neoplasms	Associate	26901106
Lung Neoplasms	Associate	29984231
Lymphoma	Associate	37388727
Neoplasm Metastasis	Associate	27978536, 32626933
Neoplasms	Inhibit	22039417, 27978536, 28653874, 32439898, 34221105
Neoplasms	Associate	22535206, 26787754, 30723389, 32626933, 34092577, 35404841, 35477823, 36232688
Osteosarcoma	Associate	36316355
Pancreatic Neoplasms	Associate	34854226, 35477823
Phyllodes Tumor	Associate	37240386
Plaque Atherosclerotic	Associate	34082770
Prostatic Neoplasms	Associate	21703393
Prostatitis	Associate	19087307
Stomach Neoplasms	Associate	22039417, 27978536, 28848200, 33407483
Triple Negative Breast Neoplasms	Associate	32626933, 36358906, 36880837
Urinary Bladder Neoplasms	Associate	32073734
Vomiting	Associate	29992913

FBP1 (fructose-bisphosphatase 1)