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PRX periaxin [ Homo sapiens (human) ]

Gene ID: 57716, updated on 23-Nov-2023

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
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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)

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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.

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, A0A6Q8PGB6
    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

    UniProtKB/TrEMBL
    A0A6Q8PGB6