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FIBP FGF1 intracellular binding protein [ Homo sapiens (human) ]

Gene ID: 9158, updated on 7-Apr-2024

Summary

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Official Symbol
FIBPprovided by HGNC
Official Full Name
FGF1 intracellular binding proteinprovided by HGNC
Primary source
HGNC:HGNC:3705
See related
Ensembl:ENSG00000172500 MIM:608296; AllianceGenome:HGNC:3705
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
FGFIBP; FIBP-1; TROFAS
Summary
Acidic fibroblast growth factor is mitogenic for a variety of different cell types and acts by stimulating mitogenesis or inducing morphological changes and differentiation. The FIBP protein is an intracellular protein that binds selectively to acidic fibroblast growth factor (aFGF). It is postulated that FIBP may be involved in the mitogenic action of aFGF. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in testis (RPKM 27.1), brain (RPKM 21.5) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
11q13.1
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (65883740..65888471, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (65876800..65881533, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (65651211..65655942, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:65625223-65625763 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5013 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5014 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3560 Neighboring gene cofilin 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5015 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5016 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:65627927-65628466 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3562 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:65629159-65629672 Neighboring gene MUS81 structure-specific endonuclease subunit Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:65632825-65633326 Neighboring gene EGF containing fibulin extracellular matrix protein 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3563 Neighboring gene cathepsin W Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5017 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5018 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3564 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3565 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5019 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5020 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:65661089-65661593 Neighboring gene coiled-coil domain containing 85B Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5021 Neighboring gene FOS like 1, AP-1 transcription factor subunit Neighboring gene ReSE screen-validated silencer GRCh37_chr11:65666730-65666957 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3567

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. A recessive syndrome of intellectual disability, moderate overgrowth, and renal dysplasia predisposing to Wilms tumor is caused by a mutation in FIBP gene. Akawi N, et al. Am J Med Genet A, 2016 Aug. PMID 27183861
  2. Proteomic analysis of the human cyclin-dependent kinase family reveals a novel CDK5 complex involved in cell growth and migration. Xu S, et al. Mol Cell Proteomics, 2014 Nov. PMID 25096995, Free PMC Article
  3. Organization, chromosomal localization and promoter analysis of the gene encoding human acidic fibroblast growth factor intracellular binding protein. Kolpakova E, et al. Biochem J, 2000 Dec 15. PMID 11104667, Free PMC Article
  4. Angiogenic factor expression in hepatic cirrhosis. Giatromanolaki A, et al. Mediators Inflamm, 2007. PMID 17497037, Free PMC Article
  5. Cloning of an intracellular protein that binds selectively to mitogenic acidic fibroblast growth factor. Kolpakova E, et al. Biochem J, 1998 Nov 15. PMID 9806903, Free PMC Article

See all (43) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. New cases of recently described Thauvin-Robinet-Faivre syndrome with a novel homozygous FIBP gene variant.
    Title: New cases of recently described Thauvin-Robinet-Faivre syndrome with a novel homozygous FIBP gene variant.
  2. FIBP interacts with transcription factor STAT3 to induce EME1 expression and drive radioresistance in lung adenocarcinoma.
    Title: FIBP interacts with transcription factor STAT3 to induce EME1 expression and drive radioresistance in lung adenocarcinoma.
  3. these findings provide convincing evidence implicating FIBP aberrations in the newly recognized overgrowth syndrome and expand the associated phenotypes to include possible Wilms tumor predisposition.
    Title: A recessive syndrome of intellectual disability, moderate overgrowth, and renal dysplasia predisposing to Wilms tumor is caused by a mutation in FIBP gene.
  4. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
    Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
  5. Observational study of gene-disease association. (HuGE Navigator)
    Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
  6. Data Show aFGF was expressed in regenerative hepatocytes, but not in fibroblasts, suggesting its role in promoting oxidative stress produced by hepatocytes may contribute to the development of fibrous bands in hepatic cirrhosis.
    Title: Angiogenic factor expression in hepatic cirrhosis.
Submit: New GeneRIF Correction

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
Tall stature-intellectual disability-renal anomalies syndrome
MedGen: C4310715 OMIM: 617107 GeneReviews: Not available
not available

EBI GWAS Catalog

Description
Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
EBI GWAS Catalog
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables fibroblast growth factor binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables fibroblast growth factor binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in fibroblast growth factor receptor signaling pathway TAS
Traceable Author Statement
more info
 PubMed 
involved_in platelet aggregation HMP PubMed 
Component Evidence Code Pubs
located_in endomembrane system IEA
Inferred from Electronic Annotation
more info
  
located_in membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in mitochondrion TAS
Traceable Author Statement
more info
 PubMed 
located_in nuclear speck IDA
Inferred from Direct Assay
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
acidic fibroblast growth factor intracellular-binding protein
Names
aFGF intracellular-binding protein

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

  1. NG_047103.1 RefSeqGene

    Range
    5069..9800
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_004214.5 → NP_004205.2  acidic fibroblast growth factor intracellular-binding protein isoform b

    See identical proteins and their annotated locations for NP_004205.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a.
    Source sequence(s)
    AI925637, BC017448, CD109589
    Consensus CDS
    CCDS8118.1
    UniProtKB/TrEMBL
    Q53F51
    Related
    ENSP00000350124.5, ENST00000357519.9
    Conserved Domains (1) summary
    pfam05427
    Location:3 → 356
    FIBP; Acidic fibroblast growth factor binding (FIBP)

  2. NM_198897.2 → NP_942600.1  acidic fibroblast growth factor intracellular-binding protein isoform a

    See identical proteins and their annotated locations for NP_942600.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
    Source sequence(s)
    AF250391, AI925637, CD109589
    Consensus CDS
    CCDS8119.1
    UniProtKB/Swiss-Prot
    A8K0J7, O43427, Q27Q85, Q6IBQ3, Q9HD65
    UniProtKB/TrEMBL
    Q53F51
    Related
    ENSP00000344572.2, ENST00000338369.6
    Conserved Domains (1) summary
    pfam05427
    Location:3 → 363
    FIBP; Acidic fibroblast growth factor binding (FIBP)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    65883740..65888471 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    65876800..65881533 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_008488492.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O43427.3 GenPept UniProtKB/Swiss-Prot:O43427

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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