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Aliases for PPFIA1 Gene

Aliases for PPFIA1 Gene

  • PTPRF Interacting Protein Alpha 1 2 3 5
  • Protein Tyrosine Phosphatase, Receptor Type, F Polypeptide (PTPRF), Interacting Protein (Liprin), Alpha 1 2 3
  • Protein Tyrosine Phosphatase Receptor Type F Polypeptide-Interacting Protein Alpha-1 3 4
  • LAR-Interacting Protein 1 3 4
  • Liprin-Alpha1 2 3
  • LIP-1 3 4
  • LIP1 3 4
  • PTPRF-Interacting Protein Alpha-1 4
  • Liprin-Alpha-1 3
  • 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. Diseases associated with PPFIA1 include Acrofacial Dysostosis 1, Nager Type. Among its related pathways are Transmission across Chemical Synapses and Neurotransmitter Release Cycle. Gene Ontology (GO) annotations related to this gene include signal transducer activity. An important paralog of this gene is PPFIA2.

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

Additional gene information for PPFIA1 Gene

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

Genomics for PPFIA1 Gene

GeneHancer (GH) Regulatory Elements for PPFIA1 Gene

Promoters and enhancers for PPFIA1 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
GH11I070269 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 603.8 +0.3 336 2.9 ATF1 ARNT ARID4B SIN3A DMAP1 ZBTB7B BRCA1 YY1 ZNF766 GLIS2 PPFIA1 H2AFZP4
GH11I070396 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE 46.9 +128.4 128391 4.2 HDGF CLOCK SMAD1 FOXA2 ARNT MLX ARID4B SIN3A DMAP1 ZNF2 CTTN ENSG00000246889 PPFIA1 FADD ANO1 GC11P070444
GH11I070364 Enhancer 0.7 Ensembl ENCODE 59.7 +94.5 94514 1.2 POLR2A MAX MYC RUNX3 GABPA ENSG00000254604 PPFIA1 ENSG00000246889 CTTN GC11P070297
GH11I070381 Enhancer 0.6 ENCODE 41.6 +112.0 112010 2.6 CTCF MAFG BACH1 DPF2 ZNF592 MAFF ZNF316 SMARCA4 NFE2 EMSY PPFIA1 CTTN ENSG00000246889 ENSG00000254604
GH11I070414 Enhancer 0.8 Ensembl ENCODE 28.3 +144.7 144706 2 HDAC1 CTCF CEBPB CEBPG ATF2 ATF4 ZNF318 ATF7 MLLT1 ZBTB33 PPFIA1 LOC105369373 ENSG00000254721 FADD ENSG00000254495 CTTN ENSG00000246889 GC11P070444
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PPFIA1 on UCSC Golden Path with GeneCards custom track

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

Genomic Locations for PPFIA1 Gene

Genomic Locations for PPFIA1 Gene
chr11:70,270,687-70,384,501
(GRCh38/hg38)
Size:
113,815 bases
Orientation:
Plus strand
chr11:70,116,806-70,230,509
(GRCh37/hg19)

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 StructureGene Density

RefSeq DNA sequence for PPFIA1 Gene

Proteins for PPFIA1 Gene

  • 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

Post-translational modifications for PPFIA1 Gene

No Post-translational modifications

No data available for DME Specific Peptides for PPFIA1 Gene

Domains & Families for PPFIA1 Gene

Gene Families for PPFIA1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Suggested Antigen Peptide Sequences for PPFIA1 Gene

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.
Family:
  • Belongs to the liprin family. Liprin-alpha subfamily.
genes like me logo Genes that share domains with PPFIA1: view

Function for PPFIA1 Gene

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 From GWAS Catalog for PPFIA1 Gene

Gene Ontology (GO) - Molecular Function for PPFIA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004871 signal transducer activity TAS 7796809
GO:0005515 protein binding IPI 11931740
genes like me logo Genes that share ontologies with PPFIA1: view
genes like me logo Genes that share phenotypes with PPFIA1: view

Animal Model Products

CRISPR Products

miRNA for PPFIA1 Gene

miRTarBase miRNAs that target PPFIA1

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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
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 PPFIA1 gene
Compartment Confidence
cytosol 5
nucleus 3
cytoskeleton 2
plasma membrane 1
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (4)
  • Focal adhesion sites (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PPFIA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm TAS 7796809
GO:0005829 cytosol TAS --
GO:0005925 focal adhesion IDA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
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:0007165 signal transduction TAS 7796809
GO:0007269 neurotransmitter secretion TAS --
GO:0014047 glutamate secretion TAS --
GO:0051497 negative regulation of stress fiber assembly IMP 22266902
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

No Compound Related Data Available

Transcripts for PPFIA1 Gene

Unigene Clusters for PPFIA1 Gene

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

CRISPR Products

Inhibitory RNA Products

Clone 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

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for PPFIA1 Gene



Protein tissue co-expression partners for PPFIA1 Gene

NURSA nuclear receptor signaling pathways regulating expression of PPFIA1 Gene:

PPFIA1

SOURCE GeneReport for Unigene cluster for PPFIA1 Gene:

Hs.530749

mRNA Expression by UniProt/SwissProt for PPFIA1 Gene:

Q13136-LIPA1_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for PPFIA1 Gene

  • Nervous system(4.6)
  • Liver(4.3)
genes like me logo Genes that share expression patterns with PPFIA1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia PPFIA1 33 34
  • 98.91 (n)
dog
(Canis familiaris)
Mammalia PPFIA1 33 34
  • 86.97 (n)
mouse
(Mus musculus)
Mammalia Ppfia1 33 16 34
  • 85.96 (n)
rat
(Rattus norvegicus)
Mammalia Ppfia1 33
  • 85.73 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PPFIA1 34
  • 85 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PPFIA1 33 34
  • 84.36 (n)
oppossum
(Monodelphis domestica)
Mammalia PPFIA1 34
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves PPFIA1 33 34
  • 81.41 (n)
lizard
(Anolis carolinensis)
Reptilia PPFIA1 34
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ppfia1 33
  • 76.57 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.11800 33
zebrafish
(Danio rerio)
Actinopterygii PPFIA1 34
  • 77 (a)
OneToOne
zgc:171298 33
  • 68.13 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.196 33
fruit fly
(Drosophila melanogaster)
Insecta Liprin-alpha 34
  • 53 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea syd-2 34
  • 48 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 51 (a)
OneToMany
Species where no ortholog for PPFIA1 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)
  • 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

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 Variation AA Info Type
rs1000032697 -- 70,377,418(+) T/C genic_downstream_transcript_variant, intron_variant
rs1000040387 -- 70,308,638(+) A/C genic_upstream_transcript_variant, intron_variant
rs1000061956 -- 70,292,570(+) C/G/T genic_upstream_transcript_variant, intron_variant
rs1000064902 -- 70,334,361(+) C/G genic_upstream_transcript_variant, intron_variant
rs1000076919 -- 70,294,423(+) A/T genic_upstream_transcript_variant, intron_variant

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

Variant ID Type Subtype PubMed ID
dgv144e201 CNV deletion 23290073
esv1376217 CNV insertion 17803354
esv2440471 CNV deletion 19546169
esv2744713 CNV deletion 23290073
esv2857791 CNV duplication 24192839
esv3381709 CNV insertion 20981092
esv9603 CNV gain 19470904
esv989281 CNV insertion 20482838
nsv1118218 CNV deletion 24896259
nsv1140482 CNV tandem duplication 24896259
nsv379 CNV insertion 18451855
nsv472658 CNV novel sequence insertion 20440878
nsv480854 CNV novel sequence insertion 20440878
nsv481016 CNV novel sequence insertion 20440878
nsv509426 CNV insertion 20534489
nsv825984 CNV gain 20364138
nsv975199 CNV duplication 23825009

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)

Additional Variant Information for PPFIA1 Gene

Human Gene Mutation Database (HGMD)
PPFIA1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PPFIA1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PPFIA1 Gene

Disorders for PPFIA1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for PPFIA1 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
acrofacial dysostosis 1, nager type
  • afd1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for PPFIA1

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

No data available for 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-Pagès C … Streuli M (The Journal of biological chemistry 1998) 2 3 4 58
  2. The LAR transmembrane protein tyrosine phosphatase and a coiled-coil LAR-interacting protein co-localize at focal adhesions. (PMID: 7796809) Serra-Pagès C … Streuli M (The EMBO journal 1995) 2 3 4 58
  3. 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 (Proceedings of the National Academy of Sciences of the United States of America 1995) 3 4 22 58
  4. PPFIA1 and CCND1 are frequently coamplified in breast cancer. (PMID: 19787783) Dancau AM … Simon R (Genes, chromosomes & cancer 2010) 3 22 58
  5. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 58

Products for PPFIA1 Gene

Sources for PPFIA1 Gene

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