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PPFIA1 Gene(Protein Coding)

PTPRF Interacting Protein Alpha 1

GCID:
GC11P070270
GIFtS:
53
Genes Participants
UDN Logo

Aliases for PPFIA1 Gene

Aliases for PPFIA1 Gene

  • PTPRF Interacting Protein Alpha 1 2 3
  • Protein Tyrosine Phosphatase, Receptor Type, F Polypeptide (PTPRF), Interacting Protein (Liprin), Alpha 1 2 3 5
  • Protein Tyrosine Phosphatase Receptor Type F Polypeptide-Interacting Protein Alpha-1 3 4
  • PTPRF-Interacting Protein Alpha-1 3 4
  • LAR-Interacting Protein 1 3 4
  • Liprin-Alpha1 2 3
  • LIP-1 3 4
  • LIP1 3 4
  • LIPRIN 3
  • LIP.1 3

External Ids for PPFIA1 Gene

Previous GeneCards Identifiers for PPFIA1 Gene

  • GC11P072448
  • GC11P071639
  • GC11P070339
  • GC11P069843
  • GC11P069794
  • GC11P070116
  • GC11P066374

Summaries for PPFIA1 Gene

Entrez Gene Summary for PPFIA1 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. This protein binds to the intracellular membrane-distal phosphatase domain of tyrosine phosphatase LAR, and appears to localize LAR to cell focal adhesions. This interaction may regulate the disassembly of focal adhesion and thus help orchestrate cell-matrix interactions. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]

GeneCards Summary for PPFIA1 Gene

PPFIA1 (PTPRF Interacting Protein Alpha 1) is a Protein Coding gene. Among its related pathways are Transmission across Chemical Synapses and Neurotransmitter Release Cycle. GO annotations related to this gene include signal transducer activity. An important paralog of this gene is KAZN.

UniProtKB/Swiss-Prot for PPFIA1 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.

Gene Wiki entry for PPFIA1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PPFIA1 Gene

Genomics for PPFIA1 Gene

Products:

  1. Regulatory Element

Regulatory Elements for PPFIA1 Gene

Enhancers for PPFIA1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around PPFIA1 on UCSC Golden Path with GeneCards custom track

Promoters for PPFIA1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PPFIA1 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the PPFIA1 gene promoter:

Genomic Location for PPFIA1 Gene

Chromosome:
11
Start:
70,270,687 bp from pter
End:
70,384,501 bp from pter
Size:
113,815 bases
Orientation:
Plus strand

Genomic View for PPFIA1 Gene

Genes around PPFIA1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PPFIA1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PPFIA1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for PPFIA1 Gene

Proteins for PPFIA1 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for PPFIA1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13136-LIPA1_HUMAN
    Recommended name:
    Liprin-alpha-1
    Protein Accession:
    Q13136
    Secondary Accessions:
    • A6NLE3
    • Q13135
    • Q14567
    • Q8N4I2

    Protein attributes for PPFIA1 Gene

    Size:
    1202 amino acids
    Molecular mass:
    135779 Da
    Quaternary structure:
    • Forms homodimers and heterodimers with liprins-alpha and liprins-beta. Interacts with the second PTPase domain of PTPRD, PTPRF and PTPRS. Interacts with GIT1, KIF1A and GRIP1 (By similarity).
    SequenceCaution:
    • Sequence=BAA08353.1; Type=Frameshift; Positions=1033, 1041, 1045, 1067, 1113; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for PPFIA1 Gene

    Alternative splice isoforms for PPFIA1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PPFIA1 Gene

Proteomics data for PPFIA1 Gene at MOPED

Protein Expression for PPFIA1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for PPFIA1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PPFIA1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PPFIA1 Gene

Domains & Families for PPFIA1 Gene

Gene Families for PPFIA1 Gene

HGNC:

Protein Domains for PPFIA1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for PPFIA1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q13136

UniProtKB/Swiss-Prot:

LIPA1_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 PPFIA1: view

Function for PPFIA1 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

Molecular function for PPFIA1 Gene

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.

Phenotypes for PPFIA1 Gene

GenomeRNAi human phenotypes for PPFIA1:
genes like me logo Genes that share phenotypes with PPFIA1: view

Animal Model Products

miRNA for PPFIA1 Gene

miRTarBase miRNAs that target PPFIA1

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PPFIA1 Gene

Localization for PPFIA1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PPFIA1 Gene

Cytoplasm. Note=Colocalizes with PTPRF at the ends of focal adhesions most proximal to the cell nucleus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PPFIA1 Gene COMPARTMENTS Subcellular localization image for PPFIA1 gene
Compartment Confidence
cytosol 5
nucleus 3
cytoskeleton 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for PPFIA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with PPFIA1: view

Pathways & Interactions for PPFIA1 Gene

genes like me logo Genes that share pathways with PPFIA1: view

Gene Ontology (GO) - Biological Process for PPFIA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007160 cell-matrix adhesion TAS 7796809
GO:0007268 synaptic transmission TAS --
GO:0007269 neurotransmitter secretion TAS --
genes like me logo Genes that share ontologies with PPFIA1: view

No data available for SIGNOR curated interactions for PPFIA1 Gene

Drugs & Compounds for PPFIA1 Gene

Products:

  1. Drug
No Compound Related Data Available

Transcripts for PPFIA1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for PPFIA1 Gene

(17) REFSEQ mRNAs :
(7) Additional mRNA sequences :
(101) Selected AceView cDNA sequences:
(24) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for PPFIA1 Gene

Protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PPFIA1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15a · 15b ^ 16 ^ 17 ^ 18 ^ 19 ^ 20a · 20b · 20c · 20d ^
SP1:
SP2:
SP3: -
SP4:
SP5: - - -
SP6:
SP7:
SP8:
SP9:
SP10: - - - -
SP11: - - -
SP12: - - - - -
SP13:
SP14: -
SP15:
SP16:
SP17:
SP18:

ExUns: 21 ^ 22a · 22b · 22c · 22d ^ 23 ^ 24 ^ 25a · 25b · 25c ^ 26a · 26b · 26c ^ 27 ^ 28 ^ 29a · 29b · 29c ^ 30 ^ 31 ^ 32 ^ 33a · 33b · 33c ^ 34 ^ 35a ·
SP1: - -
SP2: -
SP3:
SP4:
SP5: -
SP6:
SP7:
SP8: - - -
SP9:
SP10: -
SP11: - - - -
SP12: - - - -
SP13: - - -
SP14: -
SP15: - - - -
SP16: -
SP17:
SP18: - -

Relevant External Links for PPFIA1 Gene

GeneLoc Exon Structure for
PPFIA1
ECgene alternative splicing isoforms for
PPFIA1

Expression for PPFIA1 Gene

Products:

  1. Primer

mRNA expression in normal human tissues for PPFIA1 Gene

mRNA expression in normal human tissues for PPFIA1 Gene
mRNA expression by BioGPS for PPFIA1 GenemRNA expression by GTEx for PPFIA1 Gene

Protein differential expression in normal tissues from HIPED for PPFIA1 Gene

This gene is overexpressed in Cardia (21.5), Lung (15.8), Colon muscle (9.2), and Platelet (7.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for PPFIA1 Gene



SOURCE GeneReport for Unigene cluster for PPFIA1 Gene Hs.530749

mRNA Expression by UniProt/SwissProt for PPFIA1 Gene

Q13136-LIPA1_HUMAN
Tissue specificity: Ubiquitous.
genes like me logo Genes that share expression patterns with PPFIA1: view

Protein tissue co-expression partners for PPFIA1 Gene

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for PPFIA1 Gene

Orthologs for PPFIA1 Gene

This gene was present in the common ancestor of animals.

Orthologs for PPFIA1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
 Mammalia PPFIA1 35
  • 84.36 (n)
  • 94.09 (a)
PPFIA1 36
  • 94 (a)
 OneToOne
dog
(Canis familiaris)
 Mammalia PPFIA1 35
  • 86.97 (n)
  • 94.26 (a)
PPFIA1 36
  • 94 (a)
 OneToOne
mouse
(Mus musculus)
 Mammalia Ppfia1 35
  • 85.96 (n)
  • 95.92 (a)
Ppfia1 16
Ppfia1 36
  • 91 (a)
 OneToOne
chimpanzee
(Pan troglodytes)
 Mammalia PPFIA1 35
  • 98.91 (n)
  • 98.74 (a)
PPFIA1 36
  • 100 (a)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Ppfia1 35
  • 85.73 (n)
  • 96.28 (a)
oppossum
(Monodelphis domestica)
 Mammalia PPFIA1 36
  • 83 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia PPFIA1 36
  • 85 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves PPFIA1 35
  • 81.41 (n)
  • 92.89 (a)
PPFIA1 36
  • 90 (a)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia PPFIA1 36
  • 84 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia ppfia1 35
  • 76.57 (n)
  • 87.19 (a)
African clawed frog
(Xenopus laevis)
 Amphibia Xl.11800 35
zebrafish
(Danio rerio)
 Actinopterygii zgc:171298 35
  • 68.13 (n)
  • 76.31 (a)
PPFIA1 36
  • 77 (a)
 OneToOne
rainbow trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.196 35
fruit fly
(Drosophila melanogaster)
 Insecta Liprin-alpha 36
  • 53 (a)
 OneToMany
worm
(Caenorhabditis elegans)
 Secernentea syd-2 36
  • 48 (a)
 OneToMany
sea squirt
(Ciona savignyi)
 Ascidiacea -- 36
  • 51 (a)
 OneToMany
Species with no ortholog for PPFIA1:
  • 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)
  • 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)
  • wheat (Triticum aestivum)

Evolution for PPFIA1 Gene

ENSEMBL:
Gene Tree for PPFIA1 (if available)
TreeFam:
Gene Tree for PPFIA1 (if available)

Paralogs for PPFIA1 Gene

Paralogs for PPFIA1 Gene

(4) SIMAP similar genes for PPFIA1 Gene using alignment to 14 proteins:

Pseudogenes.org Pseudogenes for PPFIA1 Gene

genes like me logo Genes that share paralogs with PPFIA1: view

Variants for PPFIA1 Gene

Sequence variations from dbSNP and Humsavar for PPFIA1 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs546502 - 70,272,383(+) ACGAG(A/G)TTGGT nc-transcript-variant, reference, missense
rs11236045 - 70,374,992(+) ACAAT(C/T)TTATA nc-transcript-variant, reference, missense
rs524333 -- 70,377,637(+) CCAGC(C/T)CGGGC intron-variant
rs525232 -- 70,309,869(+) gtgat(G/T)gctga intron-variant
rs531498 -- 70,310,478(-) AACCC(A/G)GGAGG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PPFIA1 Gene

Variant ID Type Subtype PubMed ID
nsv379 CNV Insertion 18451855
dgv163e201 CNV Deletion 23290073
esv2744713 CNV Deletion 23290073
nsv509426 CNV Insertion 20534489
esv989281 CNV Insertion 20482838
esv2440471 CNV Deletion 19546169
esv9603 CNV Gain 19470904
esv1376217 CNV Insertion 17803354
nsv825984 CNV Gain 20364138

Variation tolerance for PPFIA1 Gene

Residual Variation Intolerance Score: 9.24% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.45; 85.70% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for PPFIA1 Gene

Disorders for PPFIA1 Gene

Relevant External Links for PPFIA1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PPFIA1

No disorders were found for PPFIA1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PPFIA1 Gene

Publications for PPFIA1 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 67
  2. PPFIA1 and CCND1 are frequently coamplified in breast cancer. (PMID: 19787783) Dancau A.M. … Simon R. (Genes Chromosomes Cancer 2010) 3 23
  3. The LAR transmembrane protein tyrosine phosphatase and a coiled-coil LAR-interacting protein co-localize at focal adhesions. (PMID: 7796809) Serra-Pages C. … Streuli M. (EMBO J. 1995) 2 3
  4. The LAR/PTP delta/PTP sigma subfamily of transmembrane protein- tyrosine-phosphatases: multiple human LAR, PTP delta, and PTP sigma isoforms are expressed in a tissue-specific manner and associate with the LAR-interacting protein LIP.1. (PMID: 8524829) Pulido R. … Streuli M. (Proc. Natl. Acad. Sci. U.S.A. 1995) 3 23
  5. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3

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