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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

PPFIA1 Gene

protein-coding   GIFtS: 54
GCID: GC11P070116

Protein Tyrosine Phosphatase, Receptor Type, F Polypeptide...

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Protein Tyrosine Phosphatase, Receptor Type, F Polypeptide (PTPRF),
Interacting Protein (Liprin), Alpha 11 2
     LAR-Interacting Protein 12 3
LIP12 3 5     PTPRF-Interacting Protein Alpha-12 3
Liprin-alpha11 2     LIP.12
Protein Tyrosine Phosphatase Receptor Type F Polypeptide-Interacting
Protein Alpha-12 3
     LIPRIN2
LIP-12 3     liprin-alpha-12

External Ids:    HGNC: 92451   Entrez Gene: 85002   Ensembl: ENSG000001316267   OMIM: 6110545   UniProtKB: Q131363   

Export aliases for PPFIA1 gene to outside databases

Previous GC identifers: GC11P072448 GC11P071639 GC11P070339 GC11P069843 GC11P069794 GC11P066374


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 (protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1) is a protein-coding gene. Diseases associated with PPFIA1 include cerebral cavernous malformations 3, and cavernous malformation. GO annotations related to this gene include protein binding and signal transducer activity. An important paralog of this gene is KAZN.

UniProtKB/Swiss-Prot: LIPA1_HUMAN, Q13136
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 Wiki entry for PPFIA1 (Liprin-alpha-1) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NC_018922.2  NT_167190.1  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PPFIA1 gene promoter:
         AML1a   NRSF form 1   GATA-1   CREB   S8   deltaCREB   Pax-4a   MRF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPPFIA1 promoter sequence
   Search SABiosciences Chromatin IP Primers for PPFIA1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PPFIA1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11q13.3   Ensembl cytogenetic band:  11q13.3   HGNC cytogenetic band: 11q13.3

PPFIA1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PPFIA1 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P070116:  view genomic region     (about GC identifiers)

Start:
70,116,806 bp from pter      End:
70,230,509 bp from pter
Size:
113,704 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: LIPA1_HUMAN, Q13136 (See protein sequence)
Recommended Name: Liprin-alpha-1  
Size: 1202 amino acids; 135779 Da
Subunit: 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)
Subcellular location: Cytoplasm. Note=Colocalizes with PTPRF at the ends of focal adhesions most proximal to the
cell nucleus
Sequence caution: Sequence=BAA08353.1; Type=Frameshift; Positions=1033, 1041, 1045, 1067, 1113;
Secondary accessions: A6NLE3 Q13135 Q14567 Q8N4I2
Alternative splicing: 2 isoforms:  Q13136-1   Q13136-2   (Due to intron retention. No experimental confirmation available)

Explore the universe of human proteins at neXtProt for PPFIA1: NX_Q13136

Explore proteomics data for PPFIA1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q13136

  • PPFIA1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    PPFIA1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_003617.1  NP_803172.1  

    ENSEMBL proteins: 
     ENSP00000253925   ENSP00000374198   ENSP00000433619   ENSP00000432722   ENSP00000432065  
     ENSP00000435752   ENSP00000433114   ENSP00000437024   ENSP00000431692   ENSP00000431828  
     ENSP00000434445   ENSP00000432913   ENSP00000435978   ENSP00000436234   ENSP00000434692  

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    Cloud-Clone Corp. Proteins for PPFIA1 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--

    PPFIA1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    SAMD: Sterile alpha motif (SAM) domain containing

    4 InterPro protein domains:
     IPR021129 SAM_type1
     IPR013761 SAM/pointed
     IPR001660 SAM
     IPR011510 SAM_2

    Graphical View of Domain Structure for InterPro Entry Q13136

    ProtoNet protein and cluster: Q13136

    3 Blocks protein domains:
    IPB001660 Sterile alpha motif SAM
    IPB011072 Protein kinase PKN/PRK1
    IPB011510 Sterile alpha motif homology 2


    UniProtKB/Swiss-Prot: LIPA1_HUMAN, Q13136
    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
    Similarity: Belongs to the liprin family. Liprin-alpha subfamily
    Similarity: Contains 3 SAM (sterile alpha motif) domains


    PPFIA1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: LIPA1_HUMAN, Q13136
    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): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004871signal transducer activity TAS7796809
    GO:0005515protein binding IPI11931740
         
    PPFIA1 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for PPFIA1:
     Increased G2M DNA content  Synthetic lethal with Ras 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for PPFIA1 
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    SwitchGear 3'UTR luciferase reporter plasmidPPFIA1 3' UTR sequence
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PPFIA1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/588 Interacting proteins for PPFIA1 (Q131361, 2, 3 ENSP000002539254) via UniProtKB, MINT, STRING, and/or I2D (see all 588)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    AGTPBP1Q9UPW52, 3, ENSP000003385124MINT-2865301 MINT-2865282 I2D: score=3 STRING: ENSP00000338512
    TNNT1P138052, 3, ENSP000002919014MINT-67291 I2D: score=5 STRING: ENSP00000291901
    PPP2R1AP301532, 3, ENSP000003248044MINT-7947479 I2D: score=2 STRING: ENSP00000324804
    PPP2R5DQ147381, 2, 3, ENSP000004179634EBI-745426,EBI-396563 MINT-66659 I2D: score=6 STRING: ENSP00000417963
    MBIPQ9NS731, 2, 3, ENSP000003244444EBI-745426,EBI-741953 MINT-67549 I2D: score=5 STRING: ENSP00000324444
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007160cell-matrix adhesion TAS7796809
    GO:0007165signal transduction TAS7796809

    PPFIA1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for PPFIA1 (LIPA1)

    Search CenterWatch for drugs/clinical trials and news about PPFIA1 / LIPA1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for PPFIA1 gene (2 alternative transcripts): 
    NM_003626.3  NM_177423.2  

    Unigene Cluster for PPFIA1:

    Protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1
    Hs.530749  [show with all ESTs]
    Unigene Representative Sequence: NR_045286
    18/24 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 24):
    ENST00000253925(uc001opp.3 uc001opo.3) ENST00000389547(uc001opn.2)
    ENST00000532504 ENST00000530746 ENST00000532024 ENST00000526262(uc001opq.1 uc001opr.3)
    ENST00000530932 ENST00000525530 ENST00000532443 ENST00000530798 ENST00000526369
    ENST00000526347 ENST00000530294 ENST00000526074 ENST00000528284 ENST00000528750
    ENST00000533894 ENST00000530390
    miRNA
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    hsa-miR-3607-3p hsa-miR-300 hsa-miR-411 hsa-miR-30d hsa-miR-3142 hsa-miR-30a hsa-miR-3148 hsa-miR-200b
    SwitchGear 3'UTR luciferase reporter plasmidPPFIA1 3' UTR sequence
    Inhib. RNA
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PPFIA1
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    Additional mRNA sequence: 

    AB209314.1 BC034046.1 BX648037.1 D49354.1 NR_045286.1 U22815.1 U22816.1 

    24/27 DOTS entries (see all 27):

    DT.100780090  DT.101970750  DT.447064  DT.100664764  DT.100780092  DT.95097310  DT.97800699  DT.92438427 
    DT.101955387  DT.120746500  DT.92018630  DT.100034777  DT.120746356  DT.91739708  DT.100742585  DT.100780091 
    DT.101963260  DT.75151321  DT.75168007  DT.92438432  DT.92438434  DT.95248687  DT.97780853  DT.100780089 

    24/101 AceView cDNA sequences (see all 101):

    AI583194 AA283638 AW015090 BU786834 CD366569 AI934155 AA641549 AI948450 
    CB850642 AI379453 BF222358 AA994872 BM463180 CB147461 AA676337 AA236832 
    BU781699 AI800564 AL135415 AW183120 AW519031 AA360428 BM768115 AI660207 

    GeneLoc Exon Structure

    5/18 Alternative Splicing Database (ASD) splice patterns (SP) for PPFIA1 (see all 18)    About this scheme

    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:                                                                                                                          -     -     -                     

    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:  -                                                                                                                                                         


    ECgene alternative splicing isoforms for PPFIA1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    PPFIA1 expression in normal human tissues (normalized intensities)      PPFIA1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCGTGGTATT
    PPFIA1 Expression
    About this image


    PPFIA1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/33 selected tissues (see all 33) fully expand
     
     Testis (Reproductive System)    fully expand to see all 5 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
             sperm   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 4 entries
             colon ; peripheral nerve/ganglion   
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Epithelium
             oral mucosa ; squamous epithelial cells   
     
     Blood (Hematopoietic System)    fully expand to see all 3 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
             lung ; macrophages   
             neutrophils   

    See PPFIA1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PPFIA1

    SOURCE GeneReport for Unigene cluster: Hs.530749

    UniProtKB/Swiss-Prot: LIPA1_HUMAN, Q13136
    Tissue specificity: Ubiquitous

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for PPFIA1 gene from 7/17 species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ppfia11 , 5 protein tyrosine phosphatase, receptor type, f polypeptide more1, 5 85.96(n)1
    95.92(a)1
      7 (88.85 cM)5
    2339771  NM_001195086.11  NP_001182015.11 
     1444767585 
    chicken
    (Gallus gallus)
    Aves PPFIA11 protein tyrosine phosphatase, receptor type, f polypeptide more 81.03(n)
    92.43(a)
      423147  XM_421074.3  XP_421074.3 
    lizard
    (Anolis carolinensis)
    Reptilia PPFIA16
    Uncharacterized protein
    83(a)
    1 ↔ 1
    GL343283.1(111605-174028)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.118002 Xenopus laevis transcribed sequence with moderate similarity more 83.75(n)    CF284543.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc:1712981 zgc:171298 68.02(n)
    76.35(a)
      100003520  NM_001111244.1  NP_001104714.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Liprin-alpha1 CG11199-PA 56.06(n)
    58.04(a)
      249072  NM_135223.2  NP_609067.2 
    worm
    (Caenorhabditis elegans)
    Secernentea syd-21 Protein SYD-2 52.73(n)
    51.93(a)
      181255  NM_077367.5  NP_509768.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for PPFIA1 gene
    KAZN2  PPFIA22  PPFIBP12  PPFIA42  PPFIA32  PPFIBP22  
    4 SIMAP similar genes for PPFIA1 using alignment to 14 protein entries:     LIPA1_HUMAN (see all proteins):
    PPFIA2    PPFIA2 variant protein    PPFIA3    PPFIA4

    PPFIA1 for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for PPFIA1
    PGOHUM00000248816 PGOHUM00000241144


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/2370 SNPs in PPFIA1 are shown (see all 2370)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs79389121,2
    C,F--70114885(+) cccagC/Tgtgct 3 -- us2k17Minor allele frequency- T:0.30NA WA CSA 247
    rs1448662191,2
    C--70114924(+) GGCCAA/GTGTTT 3 -- us2k10--------
    rs1163819631,2
    C,F--70114983(+) TGGAGC/TGCAGT 3 -- us2k11Minor allele frequency- T:0.04WA 118
    rs1894323371,2
    C--70115017(+) TCCACC/TTCCCA 3 -- us2k10--------
    rs1481382641,2
    C--70115296(+) TATCTA/GTGTGT 3 -- us2k10--------
    rs1440044671,2
    --70115381(+) CAGTCA/GGAGGG 3 -- us2k10--------
    rs1472598031,2
    --70115691(+) TGGCCC/TATAGT 3 -- us2k10--------
    rs1814014491,2
    --70115703(+) GATGTC/TTAAAA 3 -- us2k10--------
    rs1408407651,2
    --70115769(+) GGCTGA/TGGCGG 3 -- us2k10--------
    rs1843527491,2
    C--70115781(+) CAGACC/TACCTG 3 -- us2k10--------

    HapMap Linkage Disequilibrium report for PPFIA1 (70116806 - 70230509 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for PPFIA1:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2744713CNV Deletion23290073
    esv2440471CNV Deletion19546169
    dgv163e201CNV Deletion23290073
    nsv379CNV Insertion18451855
    esv1376217CNV Insertion17803354
    esv989281CNV Insertion20482838
    nsv509426CNV Insertion20534489
    esv9603CNV Gain19470904
    nsv825984CNV Gain20364138

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 611054    OMIM disorders: --

    6 diseases for PPFIA1:    About MalaCards
    cerebral cavernous malformations 3    cavernous malformation    cerebral cavernous malformation    cerebritis
    squamous cell carcinoma    breast cancer


    PPFIA1 for disorders           About GeneDecksing


    Export disorders for PPFIA1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for PPFIA1 gene, integrated from 9 sources (see all 41):
    (articles sorted by number of sources associating them with PPFIA1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Liprins, a family of LAR transmembrane protein-tyrosine phosphatase- interacting proteins. (PubMed id 9624153)1, 2, 3 Serra-Pages C.... Streuli M. (1998)
    2. The LAR transmembrane protein tyrosine phosphatase and a coiled-coil LAR-interacting protein co-localize at focal adhesions. (PubMed id 7796809)1, 2, 3 Serra-Pages C....Streuli M. (1995)
    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. (PubMed id 8524829)1, 2, 9 Pulido R....Streuli M. (1995)
    4. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    6. PPFIA1 and CCND1 are frequently coamplified in breast cancer. (PubMed id 19787783)1, 9 Dancau A.M....Simon R. (2010)
    7. Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)
    8. A high-throughput approach for measuring temporal chan ges in the interactome. (PubMed id 22863883)1 Kristensen A.R....Foster L.J. (2012)
    9. Genome wide association identifies PPFIA1 as a candida te gene for acute lung injury risk following major trauma. (PubMed id 22295056)1 Christie J.D....Hakonarson H. (2012)
    10. The Liprin homology domain is essential for the homom eric interaction of SYD-2/Liprin-I+ protein in presynaptic assembly. (PubMed id 22072677)1 Taru H. and Jin Y. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    Aliases
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      Query String
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 8500 HGNC: 9245 AceView: PPFIA1.1 Ensembl:ENSG00000131626 euGenes: HUgn8500
    ECgene: PPFIA1 H-InvDB: PPFIA1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for PPFIA1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for PPFIA1 gene:
    Search GeneIP for patents involving PPFIA1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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