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PRX periaxin [ Homo sapiens (human) ]

Gene ID: 57716, updated on 6-Jul-2014
Official Symbol
PRXprovided by HGNC
Official Full Name
periaxinprovided by HGNC
Primary source
HGNC:13797
See related
Ensembl:ENSG00000105227; HPRD:05758; 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]
Location:
19q13.2
Exon count :
8
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 19 NC_000019.10 (40393764..40413372, 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 SERTA domain containing 3

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Homology

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 
cell death IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cellular_component ND
No biological Data available
more info
 
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
nucleus IEA
Inferred from Electronic Annotation
more info
 
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 

    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 proteins identical to 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
    cd00992
    Location:1689
    Blast Score: 110
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
  2. NM_181882.2NP_870998.2  periaxin isoform 2

    See proteins identical to 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
    pfam02389
    Location:575707
    Blast Score: 120
    Cornifin; Cornifin (SPRR) family
    cd00992
    Location:1689
    Blast Score: 108
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000019.10 

    Range
    40393764..40413372
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005259111.1XP_005259168.1  

    Conserved Domains (2) summary
    pfam02389
    Location:433582
    Blast Score: 105
    Cornifin; Cornifin (SPRR) family
    cd00992
    Location:1689
    Blast Score: 108
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

Alternate HuRef

Genomic

  1. AC_000151.1 

    Range
    37335252..37354296
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018930.2 

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

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