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    PPFIA3 PTPRF interacting protein alpha 3 [ Homo sapiens (human) ]

    Gene ID: 8541, updated on 17-Jun-2024

    Summary

    Official Symbol
    PPFIA3provided by HGNC
    Official Full Name
    PTPRF interacting protein alpha 3provided by HGNC
    Primary source
    HGNC:HGNC:9247
    See related
    Ensembl:ENSG00000177380 MIM:603144; AllianceGenome:HGNC:9247
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    LPNA3
    Summary
    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]
    Expression
    Biased expression in brain (RPKM 10.8), skin (RPKM 6.5) and 10 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See PPFIA3 in Genome Data Viewer
    Location:
    19q13.33
    Exon count:
    29
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (49119544..49151026)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (52114278..52145758)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (49622801..49654283)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14926 Neighboring gene small nuclear ribonucleoprotein U1 subunit 70 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:49603173-49604028 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:49604029-49604882 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:49610053-49610894 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10912 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:49621711-49622222 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10913 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:49623585-49624085 Neighboring gene chromosome 19 open reading frame 73 Neighboring gene lin-7 homolog B, crumbs cell polarity complex component Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10914 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:49635887-49636531 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:49640079-49640585 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:49644909-49645502 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14927 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:49654589-49655198 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:49660783-49661404 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:49662088-49662274 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:49668584-49669227 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:49669228-49669870 Neighboring gene histidine rich calcium binding protein Neighboring gene transient receptor potential cation channel subfamily M member 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:49691645-49692146 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:49692147-49692646 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:49700016-49700342 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:49713888-49714526

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • KIAA0654, MGC126567, MGC126569

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in neurotransmitter secretion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of short-term neuronal synaptic plasticity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in synapse organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in synaptic vesicle docking IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in acrosomal vesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in epididymosome ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in glutamatergic synapse IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in presynaptic active zone IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in presynaptic active zone TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in presynaptic active zone cytoplasmic component IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    liprin-alpha-3
    Names
    liprin
    protein tyrosine phosphatase receptor type f polypeptide-interacting protein alpha-3
    protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3
    protein tyrosine phosphatase, receptor type, f polypeptide, alpha 3

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_003660.4NP_003651.1  liprin-alpha-3

      See identical proteins and their annotated locations for NP_003651.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes a functional protein.
      Source sequence(s)
      AB014554, AI346749, BX111585, DA236900
      Consensus CDS
      CCDS12758.1
      UniProtKB/Swiss-Prot
      A8K142, O75145, Q3MJA0, Q9H8B5, Q9UEW4
      Related
      ENSP00000335614.3, ENST00000334186.9
      Conserved Domains (7) summary
      cd09562
      Location:835905
      SAM_liprin-alpha1,2,3,4_repeat1; SAM domain of liprin-alpha1,2,3,4 proteins repeat 1
      cd09565
      Location:9521017
      SAM_liprin-alpha1,2,3,4_repeat2; SAM domain of liprin-alpha1,2,3,4 proteins repeat 2
      cd09568
      Location:10371108
      SAM_liprin-alpha1,2,3,4_repeat3; SAM domain of liprin-alpha1,2,3,4 proteins repeat 3
      smart00454
      Location:10401107
      SAM; Sterile alpha motif
      pfam09728
      Location:239499
      Taxilin; Myosin-like coiled-coil protein
      cl03951
      Location:398498
      CDC37_N; Cdc37 N terminal kinase binding
      cl12013
      Location:237419
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

    RNA

    1. NR_103842.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AB014554, AI346749, BC143470, BX111585, DA236900
      Related
      ENST00000602655.5

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      49119544..49151026
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047439582.1XP_047295538.1  liprin-alpha-3 isoform X1

      UniProtKB/Swiss-Prot
      A8K142, O75145, Q3MJA0, Q9H8B5, Q9UEW4
    2. XM_047439583.1XP_047295539.1  liprin-alpha-3 isoform X2

    3. XM_017027407.2XP_016882896.1  liprin-alpha-3 isoform X2

      UniProtKB/Swiss-Prot
      O75145
      Related
      ENSP00000473622.1, ENST00000602351.5
      Conserved Domains (8) summary
      cd09562
      Location:835905
      SAM_liprin-alpha1,2,3,4_repeat1; SAM domain of liprin-alpha1,2,3,4 proteins repeat 1
      cd09565
      Location:9431008
      SAM_liprin-alpha1,2,3,4_repeat2; SAM domain of liprin-alpha1,2,3,4 proteins repeat 2
      cd09568
      Location:10281099
      SAM_liprin-alpha1,2,3,4_repeat3; SAM domain of liprin-alpha1,2,3,4 proteins repeat 3
      smart00454
      Location:10311098
      SAM; Sterile alpha motif
      COG1340
      Location:32345
      COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
      pfam09728
      Location:239499
      Taxilin; Myosin-like coiled-coil protein
      cl03951
      Location:398498
      CDC37_N; Cdc37 N terminal kinase binding
      cl12013
      Location:237419
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

    RNA

    1. XR_007067023.1 RNA Sequence

    2. XR_007067024.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      52114278..52145758
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054322460.1XP_054178435.1  liprin-alpha-3 isoform X1

    2. XM_054322462.1XP_054178437.1  liprin-alpha-3 isoform X2

    3. XM_054322461.1XP_054178436.1  liprin-alpha-3 isoform X2

    RNA

    1. XR_008485214.1 RNA Sequence

    2. XR_008485215.1 RNA Sequence