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Aliases for FGFR1OP Gene

Aliases for FGFR1OP Gene

  • FGFR1 Oncogene Partner 2 3 5
  • FOP 3 4
  • Fibroblast Growth Factor Receptor 1 Oncogene Partner 3

External Ids for FGFR1OP Gene

Previous GeneCards Identifiers for FGFR1OP Gene

  • GC06P167246
  • GC06P167322
  • GC06P167384
  • GC06P167332
  • GC06P167412
  • GC06P164887

Summaries for FGFR1OP Gene

Entrez Gene Summary for FGFR1OP Gene

  • This gene encodes a largely hydrophilic centrosomal protein that is required for anchoring microtubules to subcellular structures. A t(6;8)(q27;p11) chromosomal translocation, fusing this gene and the fibroblast growth factor receptor 1 (FGFR1) gene, has been found in cases of myeloproliferative disorder. The resulting chimeric protein contains the N-terminal leucine-rich region of this encoded protein fused to the catalytic domain of FGFR1. Alterations in this gene may also be associated with Crohn's disease, Graves' disease, and vitiligo. Alternatively spliced transcript variants that encode different proteins have been identified. [provided by RefSeq, Jul 2013]

GeneCards Summary for FGFR1OP Gene

FGFR1OP (FGFR1 Oncogene Partner) is a Protein Coding gene. Diseases associated with FGFR1OP include Graves' Disease and Crohn's Disease. Among its related pathways are VEGF Signaling Pathway and Organelle biogenesis and maintenance. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and protein kinase binding.

UniProtKB/Swiss-Prot for FGFR1OP Gene

  • Required for anchoring microtubules to the centrosomes (PubMed:16314388, PubMed:28659385). Required for ciliation (PubMed:28625565, PubMed:28659385).

Gene Wiki entry for FGFR1OP Gene

Additional gene information for FGFR1OP Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FGFR1OP Gene

Genomics for FGFR1OP Gene

GeneHancer (GH) Regulatory Elements for FGFR1OP Gene

Promoters and enhancers for FGFR1OP Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06I166997 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE 550.8 +0.5 505 5 HDGF FOXA2 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 POLR2B ENSG00000272980 FGFR1OP LOC105378120 MIR3939 RNASET2 HNRNPA1P49 GPR31 GC06P167042 PIR56971
GH06I166004 Enhancer 1.5 FANTOM5 Ensembl ENCODE 21.2 -992.1 -992110 4.8 PKNOX1 SIN3A FEZF1 ZNF2 BRCA1 ZNF121 GLIS2 ZNF213 FOS ZNF202 FGFR1OP HNRNPA1P49 TBXT PRR18 LOC105378117 LINC00473
GH06I166624 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 9.8 -372.3 -372328 4.9 HDGF PKNOX1 ATF1 ARNT ZNF2 GLIS2 ZNF213 ZNF207 FOS KLF13 RPS6KA2 FGFR1OP GC06M166644 FAM103A2P
GH06I166862 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE 10.3 -136.5 -136511 0.9 CTCF USF1 ZNF777 RAD21 ZNF335 GLIS2 PATZ1 VEZF1 ZNF600 ZBTB20 RPS6KA2 RPS6KA2-AS1 FGFR1OP LOC105378120 GPR31 GC06P166871 GC06M166790 ENSG00000249141 LOC645468
GH06I167089 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 10.9 +93.8 93788 7.3 HDGF PKNOX1 SMAD1 BMI1 BATF KLF5 IRF4 ZNF207 ZNF143 ATF7 RNASET2 FGFR1OP LOC105378120 CCR6 GPR31 GC06M167096 GC06P167097 PIR47545 PIR45022 PIR53334
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around FGFR1OP on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the FGFR1OP gene promoter:

Genomic Locations for FGFR1OP Gene

Genomic Locations for FGFR1OP Gene
chr6:166,999,182-167,052,713
(GRCh38/hg38)
Size:
53,532 bases
Orientation:
Plus strand
chr6:167,412,670-167,466,201
(GRCh37/hg19)

Genomic View for FGFR1OP Gene

Genes around FGFR1OP on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FGFR1OP Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FGFR1OP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FGFR1OP Gene

Proteins for FGFR1OP Gene

  • Protein details for FGFR1OP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95684-FR1OP_HUMAN
    Recommended name:
    FGFR1 oncogene partner
    Protein Accession:
    O95684
    Secondary Accessions:
    • A8K1D1
    • B2R705
    • Q49AI0
    • Q5R3F6
    • Q96EW1

    Protein attributes for FGFR1OP Gene

    Size:
    399 amino acids
    Molecular mass:
    43065 Da
    Quaternary structure:
    • Homodimer (PubMed:16690081). Part of a ternary complex that contains CEP350, FGFR1OP and MAPRE1. Interacts directly with CEP350 and MAPRE1 (PubMed:16314388). Interacts with CEP19 (PubMed:28625565, PubMed:28428259, PubMed:28659385). Interacts (via N-terminus) with CEP350 (via C-terminus) (PubMed:28625565, PubMed:28428259).

    Three dimensional structures from OCA and Proteopedia for FGFR1OP Gene

    Alternative splice isoforms for FGFR1OP Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FGFR1OP Gene

Post-translational modifications for FGFR1OP Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for FGFR1OP Gene

No data available for DME Specific Peptides for FGFR1OP Gene

Domains & Families for FGFR1OP Gene

Gene Families for FGFR1OP Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for FGFR1OP Gene

Suggested Antigen Peptide Sequences for FGFR1OP Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O95684

UniProtKB/Swiss-Prot:

FR1OP_HUMAN :
  • Belongs to the FGFR1OP family.
Family:
  • Belongs to the FGFR1OP family.
genes like me logo Genes that share domains with FGFR1OP: view

Function for FGFR1OP Gene

Molecular function for FGFR1OP Gene

UniProtKB/Swiss-Prot Function:
Required for anchoring microtubules to the centrosomes (PubMed:16314388, PubMed:28659385). Required for ciliation (PubMed:28625565, PubMed:28659385).

Phenotypes From GWAS Catalog for FGFR1OP Gene

Gene Ontology (GO) - Molecular Function for FGFR1OP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004713 protein tyrosine kinase activity TAS --
GO:0005515 protein binding IPI 17888034
GO:0019901 protein kinase binding IPI 17888034
GO:0030292 protein tyrosine kinase inhibitor activity IDA 17888034
GO:0042803 protein homodimerization activity IDA 16690081
genes like me logo Genes that share ontologies with FGFR1OP: view
genes like me logo Genes that share phenotypes with FGFR1OP: view

Animal Models for FGFR1OP Gene

MGI Knock Outs for FGFR1OP:

Animal Model Products

CRISPR Products

miRNA for FGFR1OP Gene

miRTarBase miRNAs that target FGFR1OP

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for FGFR1OP Gene

Localization for FGFR1OP Gene

Subcellular locations from UniProtKB/Swiss-Prot for FGFR1OP Gene

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Cytoplasm, cytoskeleton, cilium basal body. Note=Associated with gamma-tubulin (PubMed:16314388). Localizes on both mother and daughter centrioles (PubMed:28625565, PubMed:28428259). Localizes to an axial position on the mother centriole (PubMed:28625565). Localizes to the distal end of the centriole partly on the subdistal appendage region (PubMed:28659385). {ECO:0000269 PubMed:16314388, ECO:0000269 PubMed:28428259, ECO:0000269 PubMed:28625565, ECO:0000269 PubMed:28659385}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FGFR1OP gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 5

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for FGFR1OP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 17888034
GO:0005737 cytoplasm IEA --
GO:0005813 centrosome IDA 16690081
GO:0005814 centriole IEA --
GO:0005815 microtubule organizing center IEA --
genes like me logo Genes that share ontologies with FGFR1OP: view

Pathways & Interactions for FGFR1OP Gene

genes like me logo Genes that share pathways with FGFR1OP: view

Pathways by source for FGFR1OP Gene

SIGNOR curated interactions for FGFR1OP Gene

Activates:

Gene Ontology (GO) - Biological Process for FGFR1OP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000086 G2/M transition of mitotic cell cycle TAS --
GO:0006469 negative regulation of protein kinase activity IDA 17888034
GO:0008284 positive regulation of cell proliferation IDA 17888034
GO:0010389 regulation of G2/M transition of mitotic cell cycle TAS --
GO:0018108 peptidyl-tyrosine phosphorylation IEA --
genes like me logo Genes that share ontologies with FGFR1OP: view

Drugs & Compounds for FGFR1OP Gene

No Compound Related Data Available

Transcripts for FGFR1OP Gene

Unigene Clusters for FGFR1OP Gene

FGFR1 oncogene partner:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for FGFR1OP Gene

No ASD Table

Relevant External Links for FGFR1OP Gene

GeneLoc Exon Structure for
FGFR1OP
ECgene alternative splicing isoforms for
FGFR1OP

Expression for FGFR1OP Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FGFR1OP Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for FGFR1OP Gene

This gene is overexpressed in Testis (45.0) and Blymphocyte (7.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for FGFR1OP Gene



Protein tissue co-expression partners for FGFR1OP Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of FGFR1OP Gene:

FGFR1OP

SOURCE GeneReport for Unigene cluster for FGFR1OP Gene:

Hs.487175

mRNA Expression by UniProt/SwissProt for FGFR1OP Gene:

O95684-FR1OP_HUMAN
Tissue specificity: Ubiquitous. Highly expressed in heart, liver, muscle, kidney, intestine, colon, adrenal gland, prostate, testis, and pancreas.

Evidence on tissue expression from TISSUES for FGFR1OP Gene

  • Nervous system(4.4)
  • Liver(4.3)
  • Blood(4.2)
  • Muscle(4.2)
genes like me logo Genes that share expression patterns with FGFR1OP: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for FGFR1OP Gene

Orthologs for FGFR1OP Gene

This gene was present in the common ancestor of chordates.

Orthologs for FGFR1OP Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FGFR1OP 33 34
  • 99.25 (n)
cow
(Bos Taurus)
Mammalia FGFR1OP 33 34
  • 87.47 (n)
rat
(Rattus norvegicus)
Mammalia LOC683722 33
  • 87.47 (n)
dog
(Canis familiaris)
Mammalia FGFR1OP 33 34
  • 86.5 (n)
mouse
(Mus musculus)
Mammalia Fgfr1op 33 16 34
  • 86.38 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 76 (a)
OneToMany
-- 34
  • 64 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia FGFR1OP 34
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves FGFR1OP 33 34
  • 72.84 (n)
lizard
(Anolis carolinensis)
Reptilia FGFR1OP 34
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fgfr1op 33
  • 64.58 (n)
Str.6447 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.15774 33
zebrafish
(Danio rerio)
Actinopterygii fgfr1op 33 34
  • 60.23 (n)
Dr.3646 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.846 33
Species where no ortholog for FGFR1OP was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for FGFR1OP Gene

ENSEMBL:
Gene Tree for FGFR1OP (if available)
TreeFam:
Gene Tree for FGFR1OP (if available)

Paralogs for FGFR1OP Gene

No data available for Paralogs for FGFR1OP Gene

Variants for FGFR1OP Gene

Sequence variations from dbSNP and Humsavar for FGFR1OP Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs1000032773 -- 167,037,680(+) A/G intron_variant
rs1000046212 -- 166,999,493(+) C/A coding_sequence_variant, missense_variant
rs1000111003 -- 167,010,766(+) G/A intron_variant
rs1000210776 -- 167,028,500(+) G/A intron_variant
rs1000221327 -- 167,020,714(+) G/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for FGFR1OP Gene

Variant ID Type Subtype PubMed ID
esv2182370 CNV deletion 18987734
esv2733213 CNV deletion 23290073
esv2733214 CNV deletion 23290073
esv2733215 CNV deletion 23290073
esv2733216 CNV deletion 23290073
esv2752099 CNV gain 17911159
esv3327167 CNV insertion 20981092
esv3355616 CNV duplication 20981092
nsv1124147 CNV deletion 24896259
nsv464140 CNV loss 19166990
nsv519550 CNV loss 19592680
nsv605260 CNV gain 21841781

Variation tolerance for FGFR1OP Gene

Residual Variation Intolerance Score: 66.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.83; 73.90% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FGFR1OP Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FGFR1OP

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FGFR1OP Gene

Disorders for FGFR1OP Gene

MalaCards: The human disease database

(4) MalaCards diseases for FGFR1OP Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
graves' disease
  • toxic diffuse goiter
crohn's disease
  • crohn disease
bone marrow cancer
  • bone marrow neoplasm
8p11 myeloproliferative syndrome
  • 8p11 stem cell leukemia/lymphoma syndrome
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

FR1OP_HUMAN
  • Note=A chromosomal aberration involving FGFR1OP may be a cause of stem cell myeloproliferative disorder (MPD). Translocation t(6;8)(q27;p11) with FGFR1. MPD is characterized by myeloid hyperplasia, eosinophilia and T-cell or B-cell lymphoblastic lymphoma. In general it progresses to acute myeloid leukemia. The fusion proteins FGFR1OP-FGFR1 or FGFR1-FGFR1OP may exhibit constitutive kinase activity and be responsible for the transforming activity (PubMed:9949182). {ECO:0000269 PubMed:9949182}.

Additional Disease Information for FGFR1OP

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with FGFR1OP: view

No data available for Genatlas for FGFR1OP Gene

Publications for FGFR1OP Gene

  1. The t(6;8)(q27;p11) translocation in a stem cell myeloproliferative disorder fuses a novel gene, FOP, to fibroblast growth factor receptor 1. (PMID: 9949182) Popovici C … Pébusque MJ (Blood 1999) 2 3 4 22 58
  2. A complex of two centrosomal proteins, CAP350 and FOP, cooperates with EB1 in microtubule anchoring. (PMID: 16314388) Yan X … Nigg EA (Molecular biology of the cell 2006) 3 4 22 58
  3. Structure of the N-terminal domain of the FOP (FGFR1OP) protein and implications for its dimerization and centrosomal localization. (PMID: 16690081) Mikolajka A … Holak TA (Journal of molecular biology 2006) 3 4 22 58
  4. RABL2 interacts with the intraflagellar transport-B complex and CEP19 and participates in ciliary assembly. (PMID: 28428259) Nishijima Y … Nakayama K (Molecular biology of the cell 2017) 3 4 58
  5. The CEP19-RABL2 GTPase Complex Binds IFT-B to Initiate Intraflagellar Transport at the Ciliary Base. (PMID: 28625565) Kanie T … Jackson PK (Developmental cell 2017) 3 4 58

Products for FGFR1OP Gene

Sources for FGFR1OP Gene

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