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Aliases for PPFIBP1 Gene

Aliases for PPFIBP1 Gene

  • PPFIA Binding Protein 1 2 3 5
  • PTPRF Interacting Protein, Binding Protein 1 (Liprin Beta 1) 2 3
  • PTPRF-Interacting Protein-Binding Protein 1 3 4
  • HSGT2 3 4
  • Protein-Tyrosine Phosphatase Receptor-Type F Polypeptide-Interacting Protein-Binding Protein 1 3
  • Protein Tyrosine Phosphatase Receptor Type F Polypeptide-Interacting Protein-Binding Protein 1 4
  • Liprin Related Protein 3
  • Liprin Beta 1 2
  • Liprin-Beta-1 3
  • KIAA1230 4
  • HSgt2p 3
  • SGT2 3
  • L2 3

External Ids for PPFIBP1 Gene

Previous GeneCards Identifiers for PPFIBP1 Gene

  • GC12P028049
  • GC12P027700
  • GC12P027577
  • GC12P027568
  • GC12P027677
  • GC12P027445

Summaries for PPFIBP1 Gene

Entrez Gene Summary for PPFIBP1 Gene

  • The protein encoded by this gene is a member of the LAR protein-tyrosine phosphatase-interacting protein (liprin) family. Liprins interact with members of LAR family of transmembrane protein tyrosine phosphatases, which are known to be important for axon guidance and mammary gland development. It has been proposed that liprins are multivalent proteins that form complex structures and act as scaffolds for the recruitment and anchoring of LAR family of tyrosine phosphatases. This protein was found to interact with S100A4, a calcium-binding protein related to tumor invasiveness and metastasis. In vitro experiment demonstrated that the interaction inhibited the phosphorylation of this protein by protein kinase C and protein kinase CK2. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]

GeneCards Summary for PPFIBP1 Gene

PPFIBP1 (PPFIA Binding Protein 1) is a Protein Coding gene. Diseases associated with PPFIBP1 include Inflammatory Myofibroblastic Tumor. Among its related pathways are Glucose / Energy Metabolism and Neuroscience. Gene Ontology (GO) annotations related to this gene include integrase activity. An important paralog of this gene is PPFIBP2.

UniProtKB/Swiss-Prot for PPFIBP1 Gene

  • May regulate the disassembly of focal adhesions. Did not bind receptor-like tyrosine phosphatases type 2A.

Gene Wiki entry for PPFIBP1 Gene

Additional gene information for PPFIBP1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PPFIBP1 Gene

Genomics for PPFIBP1 Gene

GeneHancer (GH) Regulatory Elements for PPFIBP1 Gene

Promoters and enhancers for PPFIBP1 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
GH12I027523 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 559.6 +1.2 1177 3.6 PKNOX1 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 FOS KLF13 SP3 PPFIBP1 LOC729222 C12orf71 ENSG00000248100
GH12I027520 Enhancer 1.1 Ensembl ENCODE dbSUPER 550.8 -1.9 -1947 1.7 HDAC1 ETV1 TEAD4 CTBP1 GATA2 EGR1 VEZF1 CHD2 SMARCE1 SOX6 PPFIBP1 RARSP1
GH12I027522 Enhancer 0.3 ENCODE 550.8 -0.7 -728 0.2 POLR2A PPFIBP1 RARSP1
GH12I027570 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 26.3 +50.3 50312 6.8 FOXA2 JUN MAX RAD21 YY1 FOSL1 ZNF366 POLR2A HNF4G PRDM10 PPFIBP1 SMCO2 ARNTL2-AS1 PTHLH STK38L ENSG00000248100 LOC100506578
GH12I027547 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 19.2 +29.7 29671 11.9 PKNOX1 FOXA2 MLX ZFP64 ARID4B SIN3A DMAP1 IRF4 YY1 ZNF213 ENSG00000248100 PPFIBP1 C12orf71 SMCO2 LOC100506578
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PPFIBP1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PPFIBP1 gene promoter:

Genomic Locations for PPFIBP1 Gene

Genomic Locations for PPFIBP1 Gene
chr12:27,523,431-27,695,564
(GRCh38/hg38)
Size:
172,134 bases
Orientation:
Plus strand
chr12:27,676,364-27,848,497
(GRCh37/hg19)

Genomic View for PPFIBP1 Gene

Genes around PPFIBP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PPFIBP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PPFIBP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PPFIBP1 Gene

Proteins for PPFIBP1 Gene

  • Protein details for PPFIBP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86W92-LIPB1_HUMAN
    Recommended name:
    Liprin-beta-1
    Protein Accession:
    Q86W92
    Secondary Accessions:
    • O75336
    • Q86X70
    • Q9NY03
    • Q9ULJ0

    Protein attributes for PPFIBP1 Gene

    Size:
    1011 amino acids
    Molecular mass:
    114024 Da
    Quaternary structure:
    • Forms homodimers and heterodimers. Interacts with S100A4 in a calcium-dependent mode.
    SequenceCaution:
    • Sequence=AAH46159.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAA86544.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for PPFIBP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PPFIBP1 Gene

Post-translational modifications for PPFIBP1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for PPFIBP1 Gene

Domains & Families for PPFIBP1 Gene

Gene Families for PPFIBP1 Gene

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

Protein Domains for PPFIBP1 Gene

Suggested Antigen Peptide Sequences for PPFIBP1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q86W92

UniProtKB/Swiss-Prot:

LIPB1_HUMAN :
  • The N-terminal coiled coil regions mediate homodimerization preferentially and heterodimerization type beta/beta. The C-terminal, non-coiled coil regions mediate heterodimerization type beta/alpha and interaction with S100A4.
  • Belongs to the liprin family. Liprin-beta subfamily.
Domain:
  • The N-terminal coiled coil regions mediate homodimerization preferentially and heterodimerization type beta/beta. The C-terminal, non-coiled coil regions mediate heterodimerization type beta/alpha and interaction with S100A4.
Family:
  • Belongs to the liprin family. Liprin-beta subfamily.
genes like me logo Genes that share domains with PPFIBP1: view

Function for PPFIBP1 Gene

Molecular function for PPFIBP1 Gene

UniProtKB/Swiss-Prot Function:
May regulate the disassembly of focal adhesions. Did not bind receptor-like tyrosine phosphatases type 2A.

Phenotypes From GWAS Catalog for PPFIBP1 Gene

Gene Ontology (GO) - Molecular Function for PPFIBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0045296 cadherin binding IDA 25468996
genes like me logo Genes that share ontologies with PPFIBP1: view
genes like me logo Genes that share phenotypes with PPFIBP1: view

Animal Model Products

CRISPR Products

miRNA for PPFIBP1 Gene

miRTarBase miRNAs that target PPFIBP1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PPFIBP1 Gene

Localization for PPFIBP1 Gene

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 PPFIBP1 gene
Compartment Confidence
plasma membrane 5
cytosol 5
nucleus 3

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PPFIBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane NAS 9624153
GO:0005925 focal adhesion HDA,IDA 21423176
genes like me logo Genes that share ontologies with PPFIBP1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for PPFIBP1 Gene

Pathways & Interactions for PPFIBP1 Gene

genes like me logo Genes that share pathways with PPFIBP1: view

Pathways by source for PPFIBP1 Gene

3 Cell Signaling Technology pathways for PPFIBP1 Gene

Gene Ontology (GO) - Biological Process for PPFIBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007155 cell adhesion TAS 9624153
genes like me logo Genes that share ontologies with PPFIBP1: view

No data available for SIGNOR curated interactions for PPFIBP1 Gene

Drugs & Compounds for PPFIBP1 Gene

(1) Drugs for PPFIBP1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Approved Nutra 0
genes like me logo Genes that share compounds with PPFIBP1: view

Transcripts for PPFIBP1 Gene

Unigene Clusters for PPFIBP1 Gene

PTPRF interacting protein, binding protein 1 (liprin beta 1):
Representative Sequences:

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PPFIBP1 Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b · 10c ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b ^ 19a ·
SP1: - - - -
SP2:
SP3:
SP4: - - -
SP5:
SP6:
SP7: - - - - - - - - - -
SP8:
SP9: -
SP10:
SP11: - -
SP12:
SP13: -
SP14:
SP15:

ExUns: 19b ^ 20a · 20b ^ 21a · 21b · 21c ^ 22a · 22b ^ 23a · 23b ^ 24 ^ 25a · 25b · 25c ^ 26a · 26b ^ 27
SP1:
SP2: -
SP3: -
SP4:
SP5: - - -
SP6: -
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:

Relevant External Links for PPFIBP1 Gene

GeneLoc Exon Structure for
PPFIBP1
ECgene alternative splicing isoforms for
PPFIBP1

Expression for PPFIBP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PPFIBP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PPFIBP1 Gene

This gene is overexpressed in Heart - Left Ventricle (x4.6).

Protein differential expression in normal tissues from HIPED for PPFIBP1 Gene

This gene is overexpressed in Bone (27.8), Ovary (7.2), and Pancreas (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PPFIBP1 Gene



Protein tissue co-expression partners for PPFIBP1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PPFIBP1 Gene:

PPFIBP1

SOURCE GeneReport for Unigene cluster for PPFIBP1 Gene:

Hs.172445

mRNA Expression by UniProt/SwissProt for PPFIBP1 Gene:

Q86W92-LIPB1_HUMAN
Tissue specificity: Widely expressed. Absent in liver.

Evidence on tissue expression from TISSUES for PPFIBP1 Gene

  • Nervous system(4.5)
  • Liver(4.3)
  • Skin(4.2)
  • Heart(2.2)
  • Lung(2.1)
genes like me logo Genes that share expression patterns with PPFIBP1: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for PPFIBP1 Gene

Orthologs for PPFIBP1 Gene

This gene was present in the common ancestor of animals.

Orthologs for PPFIBP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PPFIBP1 33 34
  • 99.44 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PPFIBP1 34
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PPFIBP1 33 34
  • 90.91 (n)
cow
(Bos Taurus)
Mammalia PPFIBP1 33 34
  • 89.59 (n)
mouse
(Mus musculus)
Mammalia Ppfibp1 33 16 34
  • 86.43 (n)
rat
(Rattus norvegicus)
Mammalia Ppfibp1 33
  • 84.76 (n)
oppossum
(Monodelphis domestica)
Mammalia PPFIBP1 34
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves PPFIBP1 33 34
  • 76.56 (n)
lizard
(Anolis carolinensis)
Reptilia PPFIBP1 34
  • 80 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia LOC398525 33
zebrafish
(Danio rerio)
Actinopterygii PPFIBP1 (1 of 2) 34
  • 65 (a)
OneToMany
ppfibp1 33
  • 64.85 (n)
PPFIBP1 (2 of 2) 34
  • 64 (a)
OneToMany
Dr.15202 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10751 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010342 33
  • 53.2 (n)
fruit fly
(Drosophila melanogaster)
Insecta Liprin-beta 33 34
  • 49.5 (n)
CG10743 35
  • 42 (a)
CG11206 35
  • 40 (a)
worm
(Caenorhabditis elegans)
Secernentea hlb-1 33 34
  • 43.93 (n)
T21H8.1 35
  • 35 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 43 (a)
OneToMany
Species where no ortholog for PPFIBP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for PPFIBP1 Gene

ENSEMBL:
Gene Tree for PPFIBP1 (if available)
TreeFam:
Gene Tree for PPFIBP1 (if available)

Paralogs for PPFIBP1 Gene

Paralogs for PPFIBP1 Gene

Pseudogenes.org Pseudogenes for PPFIBP1 Gene

genes like me logo Genes that share paralogs with PPFIBP1: view

Variants for PPFIBP1 Gene

Sequence variations from dbSNP and Humsavar for PPFIBP1 Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs1000024008 -- 27,531,804(+) T/C genic_upstream_transcript_variant, intron_variant
rs1000072787 -- 27,585,564(+) G/A genic_upstream_transcript_variant, intron_variant
rs1000085404 -- 27,575,782(+) G/A genic_upstream_transcript_variant, intron_variant
rs1000087249 -- 27,655,800(+) A/C genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000091028 -- 27,532,504(+) C/T genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for PPFIBP1 Gene

Variant ID Type Subtype PubMed ID
dgv1406n100 CNV gain 25217958
dgv189n27 CNV gain 19166990
dgv2417n54 CNV gain 21841781
dgv2420n54 CNV gain 21841781
dgv271e199 CNV deletion 23128226
dgv7e197 CNV deletion 19546169
esv2168060 CNV deletion 18987734
esv25573 CNV loss 19812545
esv2658186 CNV deletion 23128226
esv2745664 CNV deletion 23290073
esv2745669 CNV deletion 23290073
esv2745670 CNV deletion 23290073
esv3365278 CNV duplication 20981092
esv3628940 CNV gain 21293372
esv3628943 CNV gain 21293372
esv3628944 CNV loss 21293372
esv3892167 CNV gain 25118596
esv5097 CNV loss 18987735
nsv436825 CNV insertion 17901297
nsv470280 CNV gain 18288195
nsv520981 CNV loss 19592680
nsv521002 CNV loss 19592680
nsv521872 CNV gain 19592680
nsv557822 CNV loss 21841781
nsv832358 CNV gain 17160897
nsv957282 CNV deletion 24416366
nsv976589 CNV duplication 23825009
nsv976590 CNV duplication 23825009
nsv976591 CNV duplication 23825009
nsv976592 CNV duplication 23825009

Variation tolerance for PPFIBP1 Gene

Residual Variation Intolerance Score: 18.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.25; 62.44% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PPFIBP1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PPFIBP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PPFIBP1 Gene

Disorders for PPFIBP1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for PPFIBP1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
inflammatory myofibroblastic tumor
  • inflammatory fibrosarcoma
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for PPFIBP1

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 PPFIBP1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PPFIBP1 Gene

Publications for PPFIBP1 Gene

  1. Liprin beta 1, a member of the family of LAR transmembrane tyrosine phosphatase-interacting proteins, is a new target for the metastasis-associated protein S100A4 (Mts1). (PMID: 11836260) Kriajevska M … Lukanidin E (The Journal of biological chemistry 2002) 2 3 4 22 58
  2. Liprins, a family of LAR transmembrane protein-tyrosine phosphatase-interacting proteins. (PMID: 9624153) Serra-Pagès C … Streuli M (The Journal of biological chemistry 1998) 2 3 4 58
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  4. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 58
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58

Products for PPFIBP1 Gene

Sources for PPFIBP1 Gene

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