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UniProtKB - Q9BXM0 (PRAX_HUMAN)

Entry version 177 (02 Dec 2020)
Sequence version 2 (11 Jan 2011)
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Protein

Periaxin

Gene

PRX

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Scaffolding protein that functions as part of a dystroglycan complex in Schwann cells, and as part of EZR and AHNAK-containing complexes in eye lens fiber cells. Required for the maintenance of the peripheral myelin sheath that is essential for normal transmission of nerve impulses and normal perception of sensory stimuli. Required for normal transport of MBP mRNA from the perinuclear to the paranodal regions. Required for normal remyelination after nerve injury. Required for normal elongation of Schwann cells and normal length of the internodes between the nodes of Ranvier. The demyelinated nodes of Ranvier permit saltatory transmission of nerve impulses; shorter internodes cause slower transmission of nerve impulses. Required for the formation of appositions between the abaxonal surface of the myelin sheath and the Schwann cell plasma membrane; the Schwann cell cytoplasm is restricted to regions between these appositions. Required for the formation of Cajal bands and of Schmidt-Lanterman incisures that correspond to short, cytoplasm-filled regions on myelinated nerves. Recruits DRP2 to the Schwann cell plasma membrane. Required for normal protein composition of the eye lens fiber cell plasma membrane and normal eye lens fiber cell morphology.By similarity

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Biological processi

Complete GO annotation on QuickGO ...

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q9BXM0

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-9619665, EGR2 and SOX10-mediated initiation of Schwann cell myelination [Q9BXM0-1]

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Periaxin
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:PRX
Synonyms:KIAA1620
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 19

Organism-specific databases

Eukaryotic Pathogen and Host Database Resources

More...EuPathDBi		HostDB:ENSG00000105227.14

Human Gene Nomenclature Database

More...HGNCi		HGNC:13797, PRX

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		605725, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9BXM0

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Cellular componenti

Cell junction, Cell membrane, Cytoplasm, Membrane, Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Dejerine-Sottas syndrome (DSS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA severe degenerating neuropathy of the demyelinating Charcot-Marie-Tooth disease category, with onset by age 2 years. Characterized by motor and sensory neuropathy with very slow nerve conduction velocities, increased cerebrospinal fluid protein concentrations, hypertrophic nerve changes, delayed age of walking as well as areflexia. There are both autosomal dominant and autosomal recessive forms of Dejerine-Sottas syndrome.
Related information in OMIM
Charcot-Marie-Tooth disease 4F (CMT4F)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA recessive demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. By convention autosomal recessive forms of demyelinating Charcot-Marie-Tooth disease are designated CMT4. CMT4F is characterized by distal sensory impairment and distal muscle weakness and atrophy affecting the lower more than the upper limbs. The age at onset is variable and can range from childhood to adult years. When the onset is in infancy, the phenotype is characterized as Dejerine-Sottas syndrome.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_069093651D → N in CMT4F. 1 PublicationCorresponds to variant dbSNP:rs3814290Ensembl.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi81 – 83LRL → QRQ: Nearly abolishes export from the nucleus. 1 Publication3

Keywords - Diseasei

Charcot-Marie-Tooth disease, Dejerine-Sottas syndrome, Disease mutation, Neurodegeneration, Neuropathy

Organism-specific databases

DisGeNET

More...DisGeNETi		57716

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		PRX

MalaCards human disease database

More...MalaCardsi		PRX
MIMi145900, phenotype
614895, phenotype

Open Targets

More...OpenTargetsi		ENSG00000105227

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		99952, Charcot-Marie-Tooth disease type 4F
64748, Dejerine-Sottas syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA33843

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q9BXM0, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		PRX

Domain mapping of disease mutations (DMDM)

More...DMDMi		317373270

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000585631 – 1461PeriaxinAdd BLAST1461

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei7PhosphoserineBy similarity1
Modified residuei133PhosphoserineBy similarity1
Modified residuei900PhosphoserineBy similarity1
Modified residuei1082PhosphoserineBy similarity1
Modified residuei1349PhosphoserineBy similarity1
Modified residuei1351PhosphoserineBy similarity1
Modified residuei1363PhosphoserineBy similarity1
Modified residuei1401PhosphoserineBy similarity1
Modified residuei1407PhosphoserineBy similarity1
Modified residuei1439PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q9BXM0

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q9BXM0

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q9BXM0

PeptideAtlas

More...PeptideAtlasi		Q9BXM0

PRoteomics IDEntifications database

More...PRIDEi		Q9BXM0

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		79452 [Q9BXM0-1]
79453 [Q9BXM0-2]
79454 [Q9BXM0-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9BXM0

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q9BXM0

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Detected in spinal cord (PubMed:11133365). Isoform 1 and isoform 2 are found in sciatic nerve and Schwann cells (PubMed:11157804).2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000105227, Expressed in trigeminal ganglion and 232 other tissues

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9BXM0, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000105227, Group enriched (brain, lung, retina)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homodimer (via PDZ domain) (PubMed:24675079).

Interacts with SCN10A.

Found in a complex with SCN10A (By similarity).

Interacts with DRP2.

Identified in a dystroglycan complex that contains at least PRX, DRP2, UTRN, DMD and DAG1 (By similarity). Detected in a complex composed of at least EZR, AHNAK, PPL and PRX (By similarity).

Identified in a complex with EZR, AHNAK, BFSP1, BFSP2, ANK2, PLEC, VIM and spectrin (By similarity).

By similarity1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		121739, 7 interactors

Protein interaction database and analysis system

More...IntActi		Q9BXM0, 11 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000326018

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q9BXM0, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

11461
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q9BXM0

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini16 – 99PDZPROSITE-ProRule annotationAdd BLAST84
<p>This subsection of the 'Family and Domains' section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati431 – 43515
Repeati439 – 44325
Repeati447 – 45135
Repeati455 – 45945
Repeati463 – 46755
Repeati468 – 47265
Repeati473 – 47775
Repeati481 – 48585
Repeati486 – 49095
Repeati494 – 498105
Repeati499 – 503115
Repeati507 – 511125
Repeati512 – 516135
Repeati520 – 524145
Repeati525 – 529155
Repeati533 – 537165
Repeati538 – 542175
Repeati546 – 550185
Repeati551 – 555195
Repeati559 – 563205
Repeati564 – 568215
Repeati572 – 576225
Repeati577 – 581235
Repeati582 – 586245
Repeati590 – 594255
Repeati595 – 599265
Repeati600 – 604275
Repeati608 – 612285
Repeati613 – 617295
Repeati618 – 622305
Repeati626 – 630315
Repeati631 – 635325
Repeati636 – 640335
Repeati644 – 648345
Repeati649 – 653355
Repeati654 – 658365
Repeati662 – 666375
Repeati670 – 674385
Repeati675 – 679395
Repeati683 – 687405
Repeati688 – 692415
Repeati696 – 700425
Repeati701 – 705435
Repeati706 – 710445
Repeati714 – 718455
Repeati719 – 723465
Repeati724 – 728475
Repeati732 – 736485
Repeati737 – 741495
Repeati742 – 746505
Repeati750 – 754515
Repeati755 – 759525
Repeati760 – 764535
Repeati771 – 775545
Repeati779 – 783555

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni431 – 78355 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]-[AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER]Add BLAST353

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi70 – 84Nuclear export signal1 PublicationAdd BLAST15
Motifi118 – 196Nuclear localization signalBy similarityAdd BLAST79

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi118 – 196Arg/Lys-rich (basic)Add BLAST79
Compositional biasi1098 – 1235Glu-rich (acidic)Add BLAST138
Compositional biasi1353 – 1361Poly-Glu9

<p>This subsection of the 'Family and domains' section provides general information on the biological role of a domain. The term 'domain' is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

Has a remarkable domain of repetitive pentameric units sometimes followed by a tripeptide spacer, it may separate two functional basic and acidic domains.Curated
The Arg/Lys-rich basic domain functions as a tripartite nuclear localization signal.By similarity
The PDZ domain contains the signal for export from the nucleus (PubMed:24633211). The N-terminal region including the PDZ domain is required for the formation of Cajal bands on myelinated nerves.By similarity1 Publication

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the periaxin family.Curated

Keywords - Domaini

Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG502QS7Y, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000160366

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_1758219_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9BXM0

Identification of Orthologs from Complete Genome Data

More...OMAi		GPDVEMK

Database of Orthologous Groups

More...OrthoDBi		1621899at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9BXM0

TreeFam database of animal gene trees

More...TreeFami		TF350595

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		2.30.42.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR001478, PDZ
IPR036034, PDZ_sf

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00228, PDZ, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF50156, SSF50156, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50106, PDZ, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 3 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 8 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9BXM0-1) [UniParc]FASTAAdd to basket
Also known as: L-periaxin

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MEARSRSAEE LRRAELVEII VETEAQTGVS GINVAGGGKE GIFVRELRED 
        60         70         80         90        100
SPAARSLSLQ EGDQLLSARV FFENFKYEDA LRLLQCAEPY KVSFCLKRTV 
       110        120        130        140        150
PTGDLALRPG TVSGYEIKGP RAKVAKLNIQ SLSPVKKKKM VPGALGVPAD 
       160        170        180        190        200
LAPVDVEFSF PKFSRLRRGL KAEAVKGPVP AAPARRRLQL PRLRVREVAE 
       210        220        230        240        250
EAQAARLAAA APPPRKAKVE AEVAAGARFT APQVELVGPR LPGAEVGVPQ 
       260        270        280        290        300
VSAPKAAPSA EAAGGFALHL PTLGLGAPAP PAVEAPAVGI QVPQVELPAL 
       310        320        330        340        350
PSLPTLPTLP CLETREGAVS VVVPTLDVAA PTVGVDLALP GAEVEARGEA 
       360        370        380        390        400
PEVALKMPRL SFPRFGARAK EVAEAKVAKV SPEARVKGPR LRMPTFGLSL 
       410        420        430        440        450
LEPRPAAPEV VESKLKLPTI KMPSLGIGVS GPEVKVPKGP EVKLPKAPEV 
       460        470        480        490        500
KLPKVPEAAL PEVRLPEVEL PKVSEMKLPK VPEMAVPEVR LPEVELPKVS 
       510        520        530        540        550
EMKLPKVPEM AVPEVRLPEV QLLKVSEMKL PKVPEMAVPE VRLPEVQLPK 
       560        570        580        590        600
VSEMKLPEVS EVAVPEVRLP EVQLPKVPEM KVPEMKLPKV PEMKLPEMKL 
       610        620        630        640        650
PEVQLPKVPE MAVPDVHLPE VQLPKVPEMK LPEMKLPEVK LPKVPEMAVP 
       660        670        680        690        700
DVHLPEVQLP KVPEMKLPKM PEMAVPEVRL PEVQLPKVSE MKLPKVPEMA 
       710        720        730        740        750
VPDVHLPEVQ LPKVCEMKVP DMKLPEIKLP KVPEMAVPDV HLPEVQLPKV 
       760        770        780        790        800
SEIRLPEMQV PKVPDVHLPK APEVKLPRAP EVQLKATKAE QAEGMEFGFK 
       810        820        830        840        850
MPKMTMPKLG RAESPSRGKP GEAGAEVSGK LVTLPCLQPE VDGEAHVGVP 
       860        870        880        890        900
SLTLPSVELD LPGALGLQGQ VPAAKMGKGE RVEGPEVAAG VREVGFRVPS 
       910        920        930        940        950
VEIVTPQLPA VEIEEGRLEM IETKVKPSSK FSLPKFGLSG PKVAKAEAEG 
       960        970        980        990       1000
AGRATKLKVS KFAISLPKAR VGAEAEAKGA GEAGLLPALD LSIPQLSLDA 
      1010       1020       1030       1040       1050
HLPSGKVEVA GADLKFKGPR FALPKFGVRG RDTEAAELVP GVAELEGKGW 
      1060       1070       1080       1090       1100
GWDGRVKMPK LKMPSFGLAR GKEAEVQGDR ASPGEKAEST AVQLKIPEVE 
      1110       1120       1130       1140       1150
LVTLGAQEEG RAEGAVAVSG MQLSGLKVST AGQVVTEGHD AGLRMPPLGI 
      1160       1170       1180       1190       1200
SLPQVELTGF GEAGTPGQQA QSTVPSAEGT AGYRVQVPQV TLSLPGAQVA 
      1210       1220       1230       1240       1250
GGELLVGEGV FKMPTVTVPQ LELDVGLSRE AQAGEAATGE GGLRLKLPTL 
      1260       1270       1280       1290       1300
GARARVGGEG AEEQPPGAER TFCLSLPDVE LSPSGGNHAE YQVAEGEGEA 
      1310       1320       1330       1340       1350
GHKLKVRLPR FGLVRAKEGA EEGEKAKSPK LRLPRVGFSQ SEMVTGEGSP 
      1360       1370       1380       1390       1400
SPEEEEEEEE EGSGEGASGR RGRVRVRLPR VGLAAPSKAS RGQEGDAAPK 
      1410       1420       1430       1440       1450
SPVREKSPKF RFPRVSLSPK ARSGSGDQEE GGLRVRLPSV GFSETGAPGP 
      1460 
ARMEGAQAAA V
Length:1,461
Mass (Da):154,905
Last modified:January 11, 2011 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i41F00C50B1DC3C7A
GO
Isoform 2 (identifier: Q9BXM0-2) [UniParc]FASTAAdd to basket
Also known as: S-periaxin

The sequence of this isoform differs from the canonical sequence as follows:
     128-147: NIQSLSPVKKKKMVPGALGV → VRVLSPAPALDCPSDPVSAP
     148-1461: Missing.

Show »
Length:147
Mass (Da):15,931
Checksum:iED181EF6C33F9128
GO
Isoform 3 (identifier: Q9BXM0-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-139: Missing.

Show »
Length:1,322
Mass (Da):139,613
Checksum:i297EF1FBDE6B031F
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A669KBF1A0A669KBF1_HUMAN
Periaxin
PRX
1,556Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A6Q8PFM7A0A6Q8PFM7_HUMAN
Periaxin
PRX
93Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A6Q8PFP7A0A6Q8PFP7_HUMAN
Periaxin
PRX
97Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A6Q8PFW6A0A6Q8PFW6_HUMAN
Periaxin
PRX
82Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A6Q8PGB6A0A6Q8PGB6_HUMAN
Periaxin
PRX
1,415Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A6Q8PGK2A0A6Q8PGK2_HUMAN
Periaxin
PRX
57Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A6Q8PH11A0A6Q8PH11_HUMAN
Periaxin
PRX
70Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A6Q8PHM6A0A6Q8PHM6_HUMAN
Periaxin
PRX
50Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAB13446 differs from that shown. Aberrant splicing.Curated
The sequence BAB13446 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_013056406A → T1 PublicationCorresponds to variant dbSNP:rs117336941Ensembl.1
Natural variantiVAR_013057495E → Q1 PublicationCorresponds to variant dbSNP:rs146789340Ensembl.1
Natural variantiVAR_073295525V → A Rare polymorphism. 1 PublicationCorresponds to variant dbSNP:rs149715830Ensembl.1
Natural variantiVAR_069093651D → N in CMT4F. 1 PublicationCorresponds to variant dbSNP:rs3814290Ensembl.1
Natural variantiVAR_013058882V → A2 PublicationsCorresponds to variant dbSNP:rs268671Ensembl.1
Natural variantiVAR_013059921I → M1 PublicationCorresponds to variant dbSNP:rs268673Ensembl.1
Natural variantiVAR_013060935K → E1 Publication1
Natural variantiVAR_0130611083P → R1 PublicationCorresponds to variant dbSNP:rs3745202Ensembl.1
Natural variantiVAR_0130621132G → R2 PublicationsCorresponds to variant dbSNP:rs268674Ensembl.1
Natural variantiVAR_0130631259E → K1 PublicationCorresponds to variant dbSNP:rs751742049Ensembl.1
Natural variantiVAR_0732961335R → Q Found in a patient with a complex hereditary motor and sensory neuropathy form associated with dysarthria, joints hypermobility and cerebellar signs; unknown pathological significance. 1 Publication1
Natural variantiVAR_0130641359Missing 1 Publication1
Natural variantiVAR_0130651411R → C1 PublicationCorresponds to variant dbSNP:rs533966999Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0403521 – 139Missing in isoform 3. 1 PublicationAdd BLAST139
Alternative sequenceiVSP_004363128 – 147NIQSL…GALGV → VRVLSPAPALDCPSDPVSAP in isoform 2. 1 PublicationAdd BLAST20
Alternative sequenceiVSP_004364148 – 1461Missing in isoform 2. 1 PublicationAdd BLAST1314

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
AF321191 mRNA Translation: AAK19279.1
AF321192 mRNA Translation: AAK19280.1
AB046840 mRNA Translation: BAB13446.1 Sequence problems.
AC010271 Genomic DNA No translation available.
BC067266 mRNA Translation: AAH67266.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS12556.1 [Q9BXM0-2]
CCDS33028.1 [Q9BXM0-1]

NCBI Reference Sequences

More...RefSeqi		NP_066007.1, NM_020956.2 [Q9BXM0-2]
NP_870998.2, NM_181882.2 [Q9BXM0-1]
XP_011525473.1, XM_011527171.2 [Q9BXM0-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000291825; ENSP00000291825; ENSG00000105227 [Q9BXM0-2]
ENST00000324001; ENSP00000326018; ENSG00000105227 [Q9BXM0-1]
ENST00000673881; ENSP00000501070; ENSG00000105227 [Q9BXM0-3]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		57716

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:57716

UCSC genome browser

More...UCSCi		uc002onr.4, human [Q9BXM0-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross%5Freferences%5Fsection">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Inherited peripheral neuropathies mutation db

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF321191 mRNA Translation: AAK19279.1
AF321192 mRNA Translation: AAK19280.1
AB046840 mRNA Translation: BAB13446.1 Sequence problems.
AC010271 Genomic DNA No translation available.
BC067266 mRNA Translation: AAH67266.1
CCDSiCCDS12556.1 [Q9BXM0-2]
CCDS33028.1 [Q9BXM0-1]
RefSeqiNP_066007.1, NM_020956.2 [Q9BXM0-2]
NP_870998.2, NM_181882.2 [Q9BXM0-1]
XP_011525473.1, XM_011527171.2 [Q9BXM0-1]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4CMZX-ray2.70A/B/C14-104[»]
SMRiQ9BXM0
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi121739, 7 interactors
IntActiQ9BXM0, 11 interactors
STRINGi9606.ENSP00000326018

PTM databases

iPTMnetiQ9BXM0
PhosphoSitePlusiQ9BXM0

Polymorphism and mutation databases

BioMutaiPRX
DMDMi317373270

Proteomic databases

jPOSTiQ9BXM0
MassIVEiQ9BXM0
PaxDbiQ9BXM0
PeptideAtlasiQ9BXM0
PRIDEiQ9BXM0
ProteomicsDBi79452 [Q9BXM0-1]
79453 [Q9BXM0-2]
79454 [Q9BXM0-3]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		959, 65 antibodies

Genome annotation databases

EnsembliENST00000291825; ENSP00000291825; ENSG00000105227 [Q9BXM0-2]
ENST00000324001; ENSP00000326018; ENSG00000105227 [Q9BXM0-1]
ENST00000673881; ENSP00000501070; ENSG00000105227 [Q9BXM0-3]
GeneIDi57716
KEGGihsa:57716
UCSCiuc002onr.4, human [Q9BXM0-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		57716
DisGeNETi57716
EuPathDBiHostDB:ENSG00000105227.14

GeneCards: human genes, protein and diseases

More...GeneCardsi		PRX
GeneReviewsiPRX
HGNCiHGNC:13797, PRX
HPAiENSG00000105227, Group enriched (brain, lung, retina)
MalaCardsiPRX
MIMi145900, phenotype
605725, gene
614895, phenotype
neXtProtiNX_Q9BXM0
OpenTargetsiENSG00000105227
Orphaneti99952, Charcot-Marie-Tooth disease type 4F
64748, Dejerine-Sottas syndrome
PharmGKBiPA33843

Human Unidentified Gene-Encoded large proteins database

More...HUGEi		Search...

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG502QS7Y, Eukaryota
GeneTreeiENSGT00940000160366
HOGENOMiCLU_1758219_0_0_1
InParanoidiQ9BXM0
OMAiGPDVEMK
OrthoDBi1621899at2759
PhylomeDBiQ9BXM0
TreeFamiTF350595

Enzyme and pathway databases

PathwayCommonsiQ9BXM0
ReactomeiR-HSA-9619665, EGR2 and SOX10-mediated initiation of Schwann cell myelination [Q9BXM0-1]

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		57716, 9 hits in 845 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		PRX, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		PRX_(gene)

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		57716
PharosiQ9BXM0, Tbio

Protein Ontology

More...PROi		PR:Q9BXM0
RNActiQ9BXM0, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000105227, Expressed in trigeminal ganglion and 232 other tissues
GenevisibleiQ9BXM0, HS

Family and domain databases

Gene3Di2.30.42.10, 1 hit
InterProiView protein in InterPro
IPR001478, PDZ
IPR036034, PDZ_sf
SMARTiView protein in SMART
SM00228, PDZ, 1 hit
SUPFAMiSSF50156, SSF50156, 1 hit
PROSITEiView protein in PROSITE
PS50106, PDZ, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiPRAX_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9BXM0
Secondary accession number(s): Q9BXL9, Q9HCF2
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 16, 2002
Last sequence update: January 11, 2011
Last modified: December 2, 2020
This is version 177 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Reference proteome

Documents

  1. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  4. SIMILARITY comments
    Index of protein domains and families
  5. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  6. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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