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

Gene ID: 8541, updated on 23-Nov-2021

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
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
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Genomic context

See PPFIA3 in Genome Data Viewer
Location:
19q13.33
Exon count:
30
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (49119389..49151030)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (49622801..49654283)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene small nuclear ribonucleoprotein U1 subunit 70 Neighboring gene chromosome 19 open reading frame 73 Neighboring gene lin-7 homolog B, crumbs cell polarity complex component Neighboring gene histidine rich calcium binding protein Neighboring gene transient receptor potential cation channel subfamily M member 4

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

Homology

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
PubMed 
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
PubMed 
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)

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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
    O75145
    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: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    49119389..49151030
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017027407.1XP_016882896.1  liprin-alpha-3 isoform X1

    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
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