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    PRX periaxin [ Homo sapiens (human) ]

    Gene ID: 57716, updated on 19-Mar-2017
    Official Symbol
    PRXprovided by HGNC
    Official Full Name
    periaxinprovided by HGNC
    Primary source
    HGNC:HGNC:13797
    See related
    Ensembl:ENSG00000105227 MIM:605725; Vega:OTTHUMG00000182597
    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
    CMT4F
    Summary
    This gene encodes a protein involved in peripheral nerve myelin upkeep. The encoded protein contains 2 PDZ domains which were named after PSD95 (post synaptic density protein), DlgA (Drosophila disc large tumor suppressor), and ZO1 (a mammalian tight junction protein). Two alternatively spliced transcript variants have been described for this gene which encode different protein isoforms and which are targeted differently in the Schwann cell. Mutations in this gene cause Charcot-Marie-Tooth neuoropathy, type 4F and Dejerine-Sottas neuropathy. [provided by RefSeq, Jul 2008]
    Orthologs
    Location:
    19q13.2
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 19 NC_000019.10 (40393762..40414718, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (40899671..40919279, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene phospholipase D family member 3 Neighboring gene microRNA 6796 Neighboring gene homeodomain interacting protein kinase 4 Neighboring gene SERTA domain containing 1 Neighboring gene uncharacterized LOC105372489 Neighboring gene SERTA domain containing 3

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Products Interactant Other Gene Complex Source Pubs Description

    Homology

    Clone Names

    • KIAA1620

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    molecular_function ND
    No biological Data available
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    axon ensheathment NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    cell junction IEA
    Inferred from Electronic Annotation
    more info
     
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     

    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.

    Genomic

    1. NG_007979.1 RefSeqGene

      Range
      5001..24601
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_265

    mRNA and Protein(s)

    1. NM_020956.2NP_066007.1  periaxin isoform 1

      See identical proteins and their annotated locations for NP_066007.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) retains an intron in the 3' coding region, which results in a frameshift and an early stop codon, compared to variant 2. The encoded protein (isoform 2) is much shorter and has a distinct C-terminus compared to isoform 2. It is found throughout the Schwann cell cytoplasm. Isoform 1 is also known as S-periaxin.
      Source sequence(s)
      AB046840, AF321192, CD674402
      Consensus CDS
      CCDS12556.1
      UniProtKB/Swiss-Prot
      Q9BXM0
      Related
      ENSP00000291825, OTTHUMP00000269618, ENST00000291825, OTTHUMT00000462581
      Conserved Domains (1) summary
      smart00228
      Location:1798
      PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
    2. NM_181882.2NP_870998.2  periaxin isoform 2

      See identical proteins and their annotated locations for NP_870998.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) encodes the longer protein (isoform 2). Isoform 2 is also known as L-periaxin. L-periaxin is found in the plasma membrane of myelinating Schwann cells.
      Source sequence(s)
      AB046840, AF321192, CD674402
      Consensus CDS
      CCDS33028.1
      UniProtKB/Swiss-Prot
      Q9BXM0
      Related
      ENSP00000326018, OTTHUMP00000269619, ENST00000324001, OTTHUMT00000462582
      Conserved Domains (2) summary
      smart00228
      Location:1798
      PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
      pfam02389
      Location:583704
      Cornifin; Cornifin (SPRR) family

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p7 Primary Assembly

      Range
      40393762..40414718 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011527171.2XP_011525473.1  periaxin isoform X1

      See identical proteins and their annotated locations for XP_011525473.1

      UniProtKB/Swiss-Prot
      Q9BXM0
      Conserved Domains (2) summary
      smart00228
      Location:1798
      PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
      pfam02389
      Location:583704
      Cornifin; Cornifin (SPRR) family
    2. XM_017027047.1XP_016882536.1  periaxin isoform X2

    3. XM_017027046.1XP_016882535.1  periaxin isoform X2

    Alternate CHM1_1.1

    Genomic

    1. NC_018930.2 Alternate CHM1_1.1

      Range
      40899344..40918924 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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