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

    Gene ID: 9158, updated on 27-Nov-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
    mouse all
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    Genomic context

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    See FIBP in Genome Data Viewer
    Location:
    11q13.1
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (65883740..65888471, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (65876800..65881533, complement)
    RS_2024_09 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. New cases of recently described Thauvin-Robinet-Faivre syndrome with a novel homozygous FIBP gene variant. Kılıç E, et al. Am J Med Genet A, 2024 Mar. PMID 37876348
    2. FIBP interacts with transcription factor STAT3 to induce EME1 expression and drive radioresistance in lung adenocarcinoma. Xu Y, et al. Int J Biol Sci, 2023. PMID 37564211, Free PMC Article
    3. 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
    4. 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
    5. 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

    See all (48) 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)

    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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    NEW Try the new Transcript table

    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_2024_08

    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.

    Chemical Information
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