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PRX periaxin [ Homo sapiens (human) ]

Gene ID: 57716, updated on 2-Oct-2018

Summary

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]
Expression
Broad expression in lung (RPKM 13.6), ovary (RPKM 2.9) and 16 other tissues See more
Orthologs

Genomic context

See PRX in Genome Data Viewer
Location:
19q13.2
Exon count:
9
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 
regulation of RNA splicing IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
T-tubule IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell junction IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

NCBI Reference Sequences (RefSeq)

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
    ENSP00000291825.6, OTTHUMP00000269618, ENST00000291825.11, 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
    ENSP00000326018.6, OTTHUMP00000269619, ENST00000324001.7, 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 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p12 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

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