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Aliases for PPFIA3 Gene

Aliases for PPFIA3 Gene

  • PTPRF Interacting Protein Alpha 3 2 3 5
  • Protein Tyrosine Phosphatase, Receptor Type, F Polypeptide (PTPRF), Interacting Protein (Liprin), Alpha 3 2 3
  • Protein Tyrosine Phosphatase Receptor Type F Polypeptide-Interacting Protein Alpha-3 3 4
  • Protein Tyrosine Phosphatase, Receptor Type, F Polypeptide, Alpha 3 2 3
  • PTPRF-Interacting Protein Alpha-3 3 4
  • LIPRIN 2 3
  • Liprin-Alpha 3 2
  • Liprin-Alpha-3 3
  • KIAA0654 4
  • LPNA3 3

External Ids for PPFIA3 Gene

Previous GeneCards Identifiers for PPFIA3 Gene

  • GC19P050280
  • GC19P049990
  • GC19P054299
  • GC19P054314
  • GC19P049622
  • GC19P045998

Summaries for PPFIA3 Gene

Entrez Gene Summary for PPFIA3 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. Liprin family protein has been shown to localize phosphatase LAR to cell focal adhesions and may be involved in the molecular organization of presynaptic active zones. [provided by RefSeq, Jul 2008]

GeneCards Summary for PPFIA3 Gene

PPFIA3 (PTPRF Interacting Protein Alpha 3) is a Protein Coding gene. Among its related pathways are Neurotransmitter Release Cycle and Transmission across Chemical Synapses. An important paralog of this gene is PPFIA1.

UniProtKB/Swiss-Prot for PPFIA3 Gene

  • May regulate the disassembly of focal adhesions. May localize receptor-like tyrosine phosphatases type 2A at specific sites on the plasma membrane, possibly regulating their interaction with the extracellular environment and their association with substrates.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PPFIA3 Gene

Genomics for PPFIA3 Gene

Regulatory Elements for PPFIA3 Gene

Enhancers for PPFIA3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around PPFIA3 on UCSC Golden Path with GeneCards custom track

Promoters for PPFIA3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PPFIA3 on UCSC Golden Path with GeneCards custom track

Genomic Location for PPFIA3 Gene

Chromosome:
19
Start:
49,119,389 bp from pter
End:
49,151,030 bp from pter
Size:
31,642 bases
Orientation:
Plus strand

Genomic View for PPFIA3 Gene

Genes around PPFIA3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PPFIA3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PPFIA3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PPFIA3 Gene

Proteins for PPFIA3 Gene

  • Protein details for PPFIA3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75145-LIPA3_HUMAN
    Recommended name:
    Liprin-alpha-3
    Protein Accession:
    O75145
    Secondary Accessions:
    • A8K142
    • Q3MJA0
    • Q9H8B5
    • Q9UEW4

    Protein attributes for PPFIA3 Gene

    Size:
    1194 amino acids
    Molecular mass:
    133496 Da
    Quaternary structure:
    • Forms homodimers and heterodimers with liprins-alpha and liprins-beta (PubMed:9624153). Interacts with the second PTPase domain of PTPRD, PTPRF and PTPRS (PubMed:9624153). Binds RIMS1, RIMS2, RIMS3 and RIMS4 (By similarity).
    SequenceCaution:
    • Sequence=BAA31629.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for PPFIA3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PPFIA3 Gene

Post-translational modifications for PPFIA3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PPFIA3 Gene

No data available for DME Specific Peptides for PPFIA3 Gene

Domains & Families for PPFIA3 Gene

Gene Families for PPFIA3 Gene

Protein Domains for PPFIA3 Gene

Graphical View of Domain Structure for InterPro Entry

O75145

UniProtKB/Swiss-Prot:

LIPA3_HUMAN :
  • The N-terminal coiled coil regions mediate homodimerization preferentially and heterodimerization type alpha/alpha. The C-terminal, non-coiled coil regions mediate heterodimerization type alpha/beta and interaction with PTPRD, PTPRF and PTPRS.
  • Belongs to the liprin family. Liprin-alpha subfamily.
Domain:
  • The N-terminal coiled coil regions mediate homodimerization preferentially and heterodimerization type alpha/alpha. The C-terminal, non-coiled coil regions mediate heterodimerization type alpha/beta and interaction with PTPRD, PTPRF and PTPRS.
  • Contains 3 SAM (sterile alpha motif) domains.
Family:
  • Belongs to the liprin family. Liprin-alpha subfamily.
genes like me logo Genes that share domains with PPFIA3: view

Function for PPFIA3 Gene

Molecular function for PPFIA3 Gene

GENATLAS Biochemistry:
protein tyrosine phosphatase, receptor type,f polypeptide (PTPRF),interacting protein (liprin),alpha 3,expressed in brain,>100kDa,related to LAR-interacting protein LIP1B
UniProtKB/Swiss-Prot Function:
May regulate the disassembly of focal adhesions. May localize receptor-like tyrosine phosphatases type 2A at specific sites on the plasma membrane, possibly regulating their interaction with the extracellular environment and their association with substrates.

Gene Ontology (GO) - Molecular Function for PPFIA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 12923177
genes like me logo Genes that share ontologies with PPFIA3: view
genes like me logo Genes that share phenotypes with PPFIA3: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PPFIA3 Gene

Localization for PPFIA3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PPFIA3 Gene

Cytoplasm. Cytoplasmic vesicle, secretory vesicle, acrosome. Note=Also detected in epididymosome. {ECO:0000250 UniProtKB:Q91Z79}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PPFIA3 Gene COMPARTMENTS Subcellular localization image for PPFIA3 gene
Compartment Confidence
cytosol 5
nucleus 4
cytoskeleton 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for PPFIA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001669 acrosomal vesicle IDA 23124857
GO:0005829 cytosol TAS --
GO:0009986 cell surface IEA --
GO:0048786 presynaptic active zone TAS 15217342
GO:0098875 epididymosome ISS --
genes like me logo Genes that share ontologies with PPFIA3: view

Pathways & Interactions for PPFIA3 Gene

genes like me logo Genes that share pathways with PPFIA3: view

Gene Ontology (GO) - Biological Process for PPFIA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007269 neurotransmitter secretion TAS --
GO:0014047 glutamate secretion TAS --
GO:0048172 regulation of short-term neuronal synaptic plasticity ISS --
genes like me logo Genes that share ontologies with PPFIA3: view

No data available for SIGNOR curated interactions for PPFIA3 Gene

Drugs & Compounds for PPFIA3 Gene

No Compound Related Data Available

Transcripts for PPFIA3 Gene

mRNA/cDNA for PPFIA3 Gene

(2) REFSEQ mRNAs :
(12) Additional mRNA sequences :
(8) Selected AceView cDNA sequences:
(13) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for PPFIA3 Gene

Protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PPFIA3 Gene

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

ExUns: 17a · 17b ^ 18a · 18b ^ 19 ^ 20 ^ 21 ^ 22 ^ 23a · 23b ^ 24a · 24b ^ 25 ^ 26 ^ 27 ^ 28a · 28b ^ 29a · 29b · 29c
SP1: - -
SP2: - - -
SP3: - -
SP4: - -
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:

Relevant External Links for PPFIA3 Gene

GeneLoc Exon Structure for
PPFIA3
ECgene alternative splicing isoforms for
PPFIA3

Expression for PPFIA3 Gene

mRNA expression in normal human tissues for PPFIA3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PPFIA3 Gene

This gene is overexpressed in Brain - Cortex (x4.9), Pituitary (x4.2), and Brain - Frontal Cortex (BA9) (x4.0).

Protein differential expression in normal tissues from HIPED for PPFIA3 Gene

This gene is overexpressed in Brain (28.4), Frontal cortex (21.3), and Fetal Brain (8.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PPFIA3 Gene



Protein tissue co-expression partners for PPFIA3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PPFIA3 Gene:

PPFIA3

SOURCE GeneReport for Unigene cluster for PPFIA3 Gene:

Hs.413748

mRNA Expression by UniProt/SwissProt for PPFIA3 Gene:

O75145-LIPA3_HUMAN
Tissue specificity: Predominantly expressed in brain (PubMed:9624153). Also detected in sperm (at protein level) (PubMed:23124857).
genes like me logo Genes that share expression patterns with PPFIA3: view

Primer Products

Orthologs for PPFIA3 Gene

This gene was present in the common ancestor of animals.

Orthologs for PPFIA3 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia PPFIA3 34
  • 92.77 (n)
  • 99.16 (a)
PPFIA3 35
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PPFIA3 34
  • 92.45 (n)
  • 98.07 (a)
PPFIA3 35
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ppfia3 34
  • 89.17 (n)
  • 98.07 (a)
Ppfia3 16
Ppfia3 35
  • 98 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PPFIA3 34
  • 96.43 (n)
  • 96.09 (a)
PPFIA3 35
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ppfia3 34
  • 88.62 (n)
  • 98.07 (a)
oppossum
(Monodelphis domestica)
Mammalia PPFIA3 35
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PPFIA3 35
  • 77 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PPFIA3 35
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ppfia3 34
  • 72.08 (n)
  • 82.38 (a)
zebrafish
(Danio rerio)
Actinopterygii ppfia3 34
  • 70.65 (n)
  • 79.08 (a)
ppfia3 35
  • 75 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG11206 36
  • 38 (a)
Liprin-alpha 35
  • 49 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea syd-2 36
  • 43 (a)
syd-2 35
  • 45 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 47 (a)
OneToMany
Species where no ortholog for PPFIA3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • chicken (Gallus gallus)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)
  • wheat (Triticum aestivum)

Evolution for PPFIA3 Gene

ENSEMBL:
Gene Tree for PPFIA3 (if available)
TreeFam:
Gene Tree for PPFIA3 (if available)

Paralogs for PPFIA3 Gene

Paralogs for PPFIA3 Gene

(4) SIMAP similar genes for PPFIA3 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with PPFIA3: view

Variants for PPFIA3 Gene

Sequence variations from dbSNP and Humsavar for PPFIA3 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs2303053 - 49,136,745(+) CCCCT(G/T)CGGGC nc-transcript-variant, reference, missense
rs3032695 -- 49,137,658(+) aaaaa(-/AAA)GTCCC intron-variant
rs3032696 -- 49,138,568(+) AACTC(-/AA)AGGGC intron-variant
rs3214465 -- 49,148,877(+) GAGGG(-/G)GTGGA intron-variant
rs3764623 -- 49,124,722(+) AACAG(C/G)CTCCC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PPFIA3 Gene

Variant ID Type Subtype PubMed ID
dgv3619n100 CNV gain 25217958
dgv3620n100 CNV gain 25217958
dgv3621n100 CNV gain 25217958
dgv667e214 CNV gain 21293372
esv2760526 CNV gain 21179565
esv3644616 CNV gain 21293372
nsv1060108 CNV gain 25217958
nsv470149 CNV loss 18288195
nsv524235 CNV gain 19592680
nsv819445 CNV gain 19587683
nsv833857 CNV loss 17160897
nsv833859 CNV loss 17160897
nsv9739 CNV gain+loss 18304495

Variation tolerance for PPFIA3 Gene

Residual Variation Intolerance Score: 2.51% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.73; 91.54% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PPFIA3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PPFIA3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PPFIA3 Gene

Disorders for PPFIA3 Gene

Relevant External Links for PPFIA3

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PPFIA3

No disorders were found for PPFIA3 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PPFIA3 Gene

Publications for PPFIA3 Gene

  1. Liprins, a family of LAR transmembrane protein-tyrosine phosphatase- interacting proteins. (PMID: 9624153) Serra-Pages C. … Streuli M. (J. Biol. Chem. 1998) 2 3 4 65
  2. Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PMID: 9734811) Ishikawa K. … Ohara O. (DNA Res. 1998) 2 3 4 65
  3. Liprin alpha3: a putative estrogen regulated acrosomal protein. (PMID: 23124857) Joshi C.S. … Khole V.V. (Histochem. Cell Biol. 2013) 3 4 65
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 65
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 65

Products for PPFIA3 Gene

Sources for PPFIA3 Gene

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