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Q9BXM0 (PRAX_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 128. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
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Names and origin

Protein namesRecommended name:
Periaxin
Gene names
Name:PRX
Synonyms:KIAA1620
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1461 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Seems to be required for maintenance of peripheral nerve myelin sheath. May have a role in axon-glial interactions, possibly by interacting with the cytoplasmic domains of integral membrane proteins such as myelin-associated glycoprotein in the periaxonal regions of the Schwann cell plasma membrane. May have a role in the early phases of myelin deposition.

Subunit structure

Interacts with SCN10A. Found in a complex with SCN10A.

Subcellular location

Nucleus By similarity.

Isoform 1: Cell membrane By similarity. Note: Associated with plasma membrane during myelination By similarity.

Isoform 2: Cytoplasm By similarity.

Tissue specificity

Isoform 1 and isoform 2 are found in sciatic nerve and Schwann cells. Ref.5

Domain

Has a remarkable domain of repetitive pentameric units sometimes followed by a tripeptide spacer, it may separate two functional basic and acidic domains.

The Arg/Lys-rich basic domain functions as a tripartite nuclear localization signal.

Involvement in disease

Dejerine-Sottas syndrome (DSS) [MIM:145900]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.5

Charcot-Marie-Tooth disease 4F (CMT4F) [MIM:614895]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.5 Ref.6

Sequence similarities

Belongs to the periaxin family.

Contains 1 PDZ (DHR) domain.

Sequence caution

The sequence BAB13446.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

The sequence BAB13446.1 differs from that shown. Reason: Aberrant splicing.

Binary interactions

With

Entry

#Exp.

IntAct

Notes

NCK1P163332EBI-1753064,EBI-389883

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9BXM0-1)

Also known as: L-periaxin;

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 2 (identifier: Q9BXM0-2)

Also known as: S-periaxin;

The sequence of this isoform differs from the canonical sequence as follows:
     128-147: NIQSLSPVKKKKMVPGALGV → VRVLSPAPALDCPSDPVSAP
     148-1461: Missing.
Isoform 3 (identifier: Q9BXM0-3)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 14611461Periaxin
PRO_0000058563

Regions

Domain16 – 9984PDZ
Repeat431 – 43551
Repeat439 – 44352
Repeat447 – 45153
Repeat455 – 45954
Repeat463 – 46755
Repeat468 – 47256
Repeat473 – 47757
Repeat481 – 48558
Repeat486 – 49059
Repeat494 – 498510
Repeat499 – 503511
Repeat507 – 511512
Repeat512 – 516513
Repeat520 – 524514
Repeat525 – 529515
Repeat533 – 537516
Repeat538 – 542517
Repeat546 – 550518
Repeat551 – 555519
Repeat559 – 563520
Repeat564 – 568521
Repeat572 – 576522
Repeat577 – 581523
Repeat582 – 586524
Repeat590 – 594525
Repeat595 – 599526
Repeat600 – 604527
Repeat608 – 612528
Repeat613 – 617529
Repeat618 – 622530
Repeat626 – 630531
Repeat631 – 635532
Repeat636 – 640533
Repeat644 – 648534
Repeat649 – 653535
Repeat654 – 658536
Repeat662 – 666537
Repeat670 – 674538
Repeat675 – 679539
Repeat683 – 687540
Repeat688 – 692541
Repeat696 – 700542
Repeat701 – 705543
Repeat706 – 710544
Repeat714 – 718545
Repeat719 – 723546
Repeat724 – 728547
Repeat732 – 736548
Repeat737 – 741549
Repeat742 – 746550
Repeat750 – 754551
Repeat755 – 759552
Repeat760 – 764553
Repeat771 – 775554
Repeat779 – 783555
Region431 – 78335355 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]-[AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER]
Motif118 – 19679Nuclear localization signal By similarity
Compositional bias118 – 19679Arg/Lys-rich (basic)
Compositional bias1098 – 1235138Glu-rich (acidic)
Compositional bias1353 – 13619Poly-Glu

Natural variations

Alternative sequence1 – 139139Missing in isoform 3.
VSP_040352
Alternative sequence128 – 14720NIQSL…GALGV → VRVLSPAPALDCPSDPVSAP in isoform 2.
VSP_004363
Alternative sequence148 – 14611314Missing in isoform 2.
VSP_004364
Natural variant4061A → T. Ref.1
Corresponds to variant rs117336941 [ dbSNP | Ensembl ].
VAR_013056
Natural variant4951E → Q. Ref.1
VAR_013057
Natural variant6511D → N in CMT4F. Ref.6
Corresponds to variant rs3814290 [ dbSNP | Ensembl ].
VAR_069093
Natural variant8821V → A. Ref.1 Ref.2
Corresponds to variant rs268671 [ dbSNP | Ensembl ].
VAR_013058
Natural variant9211I → M. Ref.1
Corresponds to variant rs268673 [ dbSNP | Ensembl ].
VAR_013059
Natural variant9351K → E. Ref.1
VAR_013060
Natural variant10831P → R. Ref.1
Corresponds to variant rs3745202 [ dbSNP | Ensembl ].
VAR_013061
Natural variant11321G → R. Ref.1 Ref.4
Corresponds to variant rs268674 [ dbSNP | Ensembl ].
VAR_013062
Natural variant12591E → K. Ref.1
VAR_013063
Natural variant13591Missing. Ref.1
VAR_013064
Natural variant14111R → C. Ref.1
VAR_013065

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 (L-periaxin) [UniParc].

Last modified January 11, 2011. Version 2.
Checksum: 41F00C50B1DC3C7A

FASTA1,461154,905
        10         20         30         40         50         60 
MEARSRSAEE LRRAELVEII VETEAQTGVS GINVAGGGKE GIFVRELRED SPAARSLSLQ 

        70         80         90        100        110        120 
EGDQLLSARV FFENFKYEDA LRLLQCAEPY KVSFCLKRTV PTGDLALRPG TVSGYEIKGP 

       130        140        150        160        170        180 
RAKVAKLNIQ SLSPVKKKKM VPGALGVPAD LAPVDVEFSF PKFSRLRRGL KAEAVKGPVP 

       190        200        210        220        230        240 
AAPARRRLQL PRLRVREVAE EAQAARLAAA APPPRKAKVE AEVAAGARFT APQVELVGPR 

       250        260        270        280        290        300 
LPGAEVGVPQ VSAPKAAPSA EAAGGFALHL PTLGLGAPAP PAVEAPAVGI QVPQVELPAL 

       310        320        330        340        350        360 
PSLPTLPTLP CLETREGAVS VVVPTLDVAA PTVGVDLALP GAEVEARGEA PEVALKMPRL 

       370        380        390        400        410        420 
SFPRFGARAK EVAEAKVAKV SPEARVKGPR LRMPTFGLSL LEPRPAAPEV VESKLKLPTI 

       430        440        450        460        470        480 
KMPSLGIGVS GPEVKVPKGP EVKLPKAPEV KLPKVPEAAL PEVRLPEVEL PKVSEMKLPK 

       490        500        510        520        530        540 
VPEMAVPEVR LPEVELPKVS EMKLPKVPEM AVPEVRLPEV QLLKVSEMKL PKVPEMAVPE 

       550        560        570        580        590        600 
VRLPEVQLPK VSEMKLPEVS EVAVPEVRLP EVQLPKVPEM KVPEMKLPKV PEMKLPEMKL 

       610        620        630        640        650        660 
PEVQLPKVPE MAVPDVHLPE VQLPKVPEMK LPEMKLPEVK LPKVPEMAVP DVHLPEVQLP 

       670        680        690        700        710        720 
KVPEMKLPKM PEMAVPEVRL PEVQLPKVSE MKLPKVPEMA VPDVHLPEVQ LPKVCEMKVP 

       730        740        750        760        770        780 
DMKLPEIKLP KVPEMAVPDV HLPEVQLPKV SEIRLPEMQV PKVPDVHLPK APEVKLPRAP 

       790        800        810        820        830        840 
EVQLKATKAE QAEGMEFGFK MPKMTMPKLG RAESPSRGKP GEAGAEVSGK LVTLPCLQPE 

       850        860        870        880        890        900 
VDGEAHVGVP SLTLPSVELD LPGALGLQGQ VPAAKMGKGE RVEGPEVAAG VREVGFRVPS 

       910        920        930        940        950        960 
VEIVTPQLPA VEIEEGRLEM IETKVKPSSK FSLPKFGLSG PKVAKAEAEG AGRATKLKVS 

       970        980        990       1000       1010       1020 
KFAISLPKAR VGAEAEAKGA GEAGLLPALD LSIPQLSLDA HLPSGKVEVA GADLKFKGPR 

      1030       1040       1050       1060       1070       1080 
FALPKFGVRG RDTEAAELVP GVAELEGKGW GWDGRVKMPK LKMPSFGLAR GKEAEVQGDR 

      1090       1100       1110       1120       1130       1140 
ASPGEKAEST AVQLKIPEVE LVTLGAQEEG RAEGAVAVSG MQLSGLKVST AGQVVTEGHD 

      1150       1160       1170       1180       1190       1200 
AGLRMPPLGI SLPQVELTGF GEAGTPGQQA QSTVPSAEGT AGYRVQVPQV TLSLPGAQVA 

      1210       1220       1230       1240       1250       1260 
GGELLVGEGV FKMPTVTVPQ LELDVGLSRE AQAGEAATGE GGLRLKLPTL GARARVGGEG 

      1270       1280       1290       1300       1310       1320 
AEEQPPGAER TFCLSLPDVE LSPSGGNHAE YQVAEGEGEA GHKLKVRLPR FGLVRAKEGA 

      1330       1340       1350       1360       1370       1380 
EEGEKAKSPK LRLPRVGFSQ SEMVTGEGSP SPEEEEEEEE EGSGEGASGR RGRVRVRLPR 

      1390       1400       1410       1420       1430       1440 
VGLAAPSKAS RGQEGDAAPK SPVREKSPKF RFPRVSLSPK ARSGSGDQEE GGLRVRLPSV 

      1450       1460 
GFSETGAPGP ARMEGAQAAA V 

« Hide

Isoform 2 (S-periaxin) [UniParc].

Checksum: ED181EF6C33F9128
Show »

FASTA14715,931
Isoform 3 [UniParc].

Checksum: 297EF1FBDE6B031F
Show »

FASTA1,322139,613

References

« Hide 'large scale' references
[1]"Periaxin mutations cause recessive Dejerine-Sottas neuropathy."
Boerkoel C.F., Takashima H., Stankiewicz P., Garcia C.A., Leber S.M., Rhee-Morris L., Lupski J.R.
Am. J. Hum. Genet. 68:325-333(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), VARIANTS THR-406; GLN-495; ALA-882; MET-921; GLU-935; ARG-1083; ARG-1132; LYS-1259; GLU-1359 DEL AND CYS-1411.
[2]"Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
Nagase T., Kikuno R., Nakayama M., Hirosawa M., Ohara O.
DNA Res. 7:273-281(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), VARIANT ALA-882.
Tissue: Brain.
[3]"The DNA sequence and biology of human chromosome 19."
Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V. expand/collapse author list , Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M.
Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT ARG-1132.
Tissue: PNS.
[5]"A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease."
Guilbot A., Williams A., Ravise N., Verny C., Brice A., Sherman D.L., Brophy P.J., LeGuern E., Delague V., Bareil C., Megarbane A., Claustres M.
Hum. Mol. Genet. 10:415-421(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: DISEASE, TISSUE SPECIFICITY.
[6]"Late-onset Charcot-Marie-Tooth disease 4F caused by periaxin gene mutation."
Tokunaga S., Hashiguchi A., Yoshimura A., Maeda K., Suzuki T., Haruki H., Nakamura T., Okamoto Y., Takashima H.
Neurogenetics 13:359-365(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CMT4F ASN-651.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_066007.1. NM_020956.2.
NP_870998.2. NM_181882.2.
UniGeneHs.205457.

3D structure databases

ProteinModelPortalQ9BXM0.
SMRQ9BXM0. Positions 28-99.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid121739. 6 interactions.
IntActQ9BXM0. 5 interactions.
STRING9606.ENSP00000326018.

PTM databases

PhosphoSiteQ9BXM0.

Polymorphism databases

DMDM317373270.

Proteomic databases

PaxDbQ9BXM0.
PRIDEQ9BXM0.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000291825; ENSP00000291825; ENSG00000105227. [Q9BXM0-2]
ENST00000324001; ENSP00000326018; ENSG00000105227. [Q9BXM0-1]
GeneID57716.
KEGGhsa:57716.
UCSCuc002onq.3. human. [Q9BXM0-1]
uc002ons.3. human. [Q9BXM0-2]

Organism-specific databases

CTD57716.
GeneCardsGC19M040899.
H-InvDBHIX0015135.
HGNCHGNC:13797. PRX.
HPAHPA001868.
MIM145900. phenotype.
605725. gene.
614895. phenotype.
neXtProtNX_Q9BXM0.
Orphanet99952. Charcot-Marie-Tooth disease type 4F.
64748. Dejerine-Sottas syndrome.
PharmGKBPA33843.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG304081.
HOGENOMHOG000168246.
HOVERGENHBG031836.
InParanoidQ9BXM0.
OMAPCLETRE.
OrthoDBEOG773XKP.
PhylomeDBQ9BXM0.
TreeFamTF350595.

Gene expression databases

BgeeQ9BXM0.
CleanExHS_PRX.
GenevestigatorQ9BXM0.

Family and domain databases

Gene3D2.30.42.10. 1 hit.
InterProIPR001478. PDZ.
[Graphical view]
SMARTSM00228. PDZ. 1 hit.
[Graphical view]
SUPFAMSSF50156. SSF50156. 1 hit.
PROSITEPS50106. PDZ. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiPRX_(gene).
GenomeRNAi57716.
NextBio64638.
PROQ9BXM0.
SOURCESearch...

Entry information

Entry namePRAX_HUMAN
AccessionPrimary (citable) accession number: Q9BXM0
Secondary accession number(s): Q9BXL9, Q9HCF2
Entry history
Integrated into UniProtKB/Swiss-Prot: April 16, 2002
Last sequence update: January 11, 2011
Last modified: April 16, 2014
This is version 128 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 19

Human chromosome 19: entries, gene names and cross-references to MIM