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    PRX periaxin [ Homo sapiens (human) ]

    Gene ID: 57716, updated on 7-Apr-2024

    Summary

    Official Symbol
    PRXprovided by HGNC
    Official Full Name
    periaxinprovided by HGNC
    Primary source
    HGNC:HGNC:13797
    See related
    Ensembl:ENSG00000105227 MIM:605725; AllianceGenome:HGNC:13797
    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]
    Expression
    Broad expression in lung (RPKM 13.6), ovary (RPKM 2.9) and 16 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See PRX in Genome Data Viewer
    Location:
    19q13.2
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (40393764..40414789, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (43214390..43235423, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (40899671..40919285, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene phospholipase D family member 3 Neighboring gene Sharpr-MPRA regulatory region 12346 Neighboring gene microRNA 6796 Neighboring gene homeodomain interacting protein kinase 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:40895441-40895990 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:40895991-40896540 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10621 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14650 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10622 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14651 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:40915393-40915986 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:40915987-40916578 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:40920095-40920743 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:40926600-40927100 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10623 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:40930422-40931224 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10624 Neighboring gene SERTA domain containing 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:40939147-40939975 Neighboring gene CRISPRi-validated cis-regulatory element chr19.4185 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10626 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10627 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10628 Neighboring gene SERTA domain containing 3

    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

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Clone Names

    • KIAA1620

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in axon ensheathment NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in peripheral nervous system myelin maintenance IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of RNA splicing IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    located_in anchoring junction IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     

    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.

    Genomic

    1. NG_007979.1 RefSeqGene

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

    mRNA and Protein(s)

    1. NM_001411127.1NP_001398056.1  periaxin isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC010271
      Consensus CDS
      CCDS92620.1
      UniProtKB/TrEMBL
      A0A669KBF1
      Related
      ENSP00000501261.1, ENST00000674005.2
    2. NM_020956.2NP_066007.1  periaxin isoform 1

      See identical proteins and their annotated locations for NP_066007.1

      Status: REVIEWED

      Description
      Transcript Variant:
      Source sequence(s)
      AB046840, AF321192, CD674402
      Consensus CDS
      CCDS12556.1
      UniProtKB/Swiss-Prot
      Q9BXM0
      Related
      ENSP00000291825.6, ENST00000291825.11
      Conserved Domains (1) summary
      smart00228
      Location:1798
      PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
    3. NM_181882.3NP_870998.2  periaxin isoform 2

      See identical proteins and their annotated locations for NP_870998.2

      Status: REVIEWED

      Description
      Transcript Variant:
      Source sequence(s)
      AB046840, AC010271, AF321192
      Consensus CDS
      CCDS33028.1
      UniProtKB/Swiss-Prot
      Q9BXL9, Q9BXM0, Q9HCF2
      UniProtKB/TrEMBL
      A0A6Q8PGB6
      Related
      ENSP00000326018.6, ENST00000324001.8
      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: 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
      40393764..40414789 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017027047.2XP_016882536.1  periaxin isoform X1

      UniProtKB/TrEMBL
      A0A6Q8PGB6

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      43214390..43235423 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054321574.1XP_054177549.1  periaxin isoform X1