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Q9BXM0

- PRAX_HUMAN

UniProt

Q9BXM0 - PRAX_HUMAN

Protein

Periaxin

Gene

PRX

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
    • BLAST
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    • History
      Entry version 132 (01 Oct 2014)
      Sequence version 2 (11 Jan 2011)
      Previous versions | rss
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    Functioni

    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.

    GO - Molecular functioni

    1. protein binding Source: IntAct

    GO - Biological processi

    1. axon ensheathment Source: UniProtKB
    2. cell death Source: UniProtKB-KW

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Periaxin
    Gene namesi
    Name:PRX
    Synonyms:KIAA1620
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 19

    Organism-specific databases

    HGNCiHGNC:13797. PRX.

    Subcellular locationi

    Nucleus By similarity
    Isoform 1 : Cell membrane By similarity
    Note: Associated with plasma membrane during myelination.By similarity
    Isoform 2 : Cytoplasm By similarity

    GO - Cellular componenti

    1. cytoplasm Source: UniProtKB-SubCell
    2. nucleus Source: UniProtKB-SubCell
    3. plasma membrane Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Cell membrane, Cytoplasm, Membrane, Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    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.
    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti651 – 6511D → N in CMT4F. 1 Publication
    Corresponds to variant rs3814290 [ dbSNP | Ensembl ].
    VAR_069093

    Keywords - Diseasei

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

    Organism-specific databases

    MIMi145900. phenotype.
    614895. phenotype.
    Orphaneti99952. Charcot-Marie-Tooth disease type 4F.
    64748. Dejerine-Sottas syndrome.
    PharmGKBiPA33843.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 14611461PeriaxinPRO_0000058563Add
    BLAST

    Proteomic databases

    PaxDbiQ9BXM0.
    PRIDEiQ9BXM0.

    PTM databases

    PhosphoSiteiQ9BXM0.

    Expressioni

    Tissue specificityi

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

    Gene expression databases

    BgeeiQ9BXM0.
    CleanExiHS_PRX.
    GenevestigatoriQ9BXM0.

    Organism-specific databases

    HPAiHPA001868.

    Interactioni

    Subunit structurei

    Interacts with SCN10A. Found in a complex with SCN10A.

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    NCK1P163332EBI-1753064,EBI-389883

    Protein-protein interaction databases

    BioGridi121739. 6 interactions.
    IntActiQ9BXM0. 5 interactions.
    STRINGi9606.ENSP00000326018.

    Structurei

    Secondary structure

    1
    1461
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Beta strandi18 – 225
    Beta strandi26 – 283
    Beta strandi32 – 387
    Beta strandi41 – 477
    Helixi52 – 565
    Beta strandi64 – 718
    Helixi77 – 8711
    Beta strandi90 – 9910

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    4CMZX-ray2.70A/B/C14-104[»]
    ProteinModelPortaliQ9BXM0.
    SMRiQ9BXM0. Positions 14-104.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini16 – 9984PDZPROSITE-ProRule annotationAdd
    BLAST
    Repeati431 – 43551
    Repeati439 – 44352
    Repeati447 – 45153
    Repeati455 – 45954
    Repeati463 – 46755
    Repeati468 – 47256
    Repeati473 – 47757
    Repeati481 – 48558
    Repeati486 – 49059
    Repeati494 – 498510
    Repeati499 – 503511
    Repeati507 – 511512
    Repeati512 – 516513
    Repeati520 – 524514
    Repeati525 – 529515
    Repeati533 – 537516
    Repeati538 – 542517
    Repeati546 – 550518
    Repeati551 – 555519
    Repeati559 – 563520
    Repeati564 – 568521
    Repeati572 – 576522
    Repeati577 – 581523
    Repeati582 – 586524
    Repeati590 – 594525
    Repeati595 – 599526
    Repeati600 – 604527
    Repeati608 – 612528
    Repeati613 – 617529
    Repeati618 – 622530
    Repeati626 – 630531
    Repeati631 – 635532
    Repeati636 – 640533
    Repeati644 – 648534
    Repeati649 – 653535
    Repeati654 – 658536
    Repeati662 – 666537
    Repeati670 – 674538
    Repeati675 – 679539
    Repeati683 – 687540
    Repeati688 – 692541
    Repeati696 – 700542
    Repeati701 – 705543
    Repeati706 – 710544
    Repeati714 – 718545
    Repeati719 – 723546
    Repeati724 – 728547
    Repeati732 – 736548
    Repeati737 – 741549
    Repeati742 – 746550
    Repeati750 – 754551
    Repeati755 – 759552
    Repeati760 – 764553
    Repeati771 – 775554
    Repeati779 – 783555

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni431 – 78335355 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]-[AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER]Add
    BLAST

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi118 – 19679Nuclear localization signalBy similarityAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi118 – 19679Arg/Lys-rich (basic)Add
    BLAST
    Compositional biasi1098 – 1235138Glu-rich (acidic)Add
    BLAST
    Compositional biasi1353 – 13619Poly-Glu

    Domaini

    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.

    Sequence similaritiesi

    Belongs to the periaxin family.Curated
    Contains 1 PDZ (DHR) domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Repeat

    Phylogenomic databases

    eggNOGiNOG304081.
    HOGENOMiHOG000168246.
    HOVERGENiHBG031836.
    InParanoidiQ9BXM0.
    OMAiGMDYAHA.
    OrthoDBiEOG773XKP.
    PhylomeDBiQ9BXM0.
    TreeFamiTF350595.

    Family and domain databases

    Gene3Di2.30.42.10. 1 hit.
    InterProiIPR001478. PDZ.
    [Graphical view]
    SMARTiSM00228. PDZ. 1 hit.
    [Graphical view]
    SUPFAMiSSF50156. SSF50156. 1 hit.
    PROSITEiPS50106. PDZ. 1 hit.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9BXM0-1) [UniParc]FASTAAdd to Basket

    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.

    « Hide

    MEARSRSAEE LRRAELVEII VETEAQTGVS GINVAGGGKE GIFVRELRED     50
    SPAARSLSLQ EGDQLLSARV FFENFKYEDA LRLLQCAEPY KVSFCLKRTV 100
    PTGDLALRPG TVSGYEIKGP RAKVAKLNIQ SLSPVKKKKM VPGALGVPAD 150
    LAPVDVEFSF PKFSRLRRGL KAEAVKGPVP AAPARRRLQL PRLRVREVAE 200
    EAQAARLAAA APPPRKAKVE AEVAAGARFT APQVELVGPR LPGAEVGVPQ 250
    VSAPKAAPSA EAAGGFALHL PTLGLGAPAP PAVEAPAVGI QVPQVELPAL 300
    PSLPTLPTLP CLETREGAVS VVVPTLDVAA PTVGVDLALP GAEVEARGEA 350
    PEVALKMPRL SFPRFGARAK EVAEAKVAKV SPEARVKGPR LRMPTFGLSL 400
    LEPRPAAPEV VESKLKLPTI KMPSLGIGVS GPEVKVPKGP EVKLPKAPEV 450
    KLPKVPEAAL PEVRLPEVEL PKVSEMKLPK VPEMAVPEVR LPEVELPKVS 500
    EMKLPKVPEM AVPEVRLPEV QLLKVSEMKL PKVPEMAVPE VRLPEVQLPK 550
    VSEMKLPEVS EVAVPEVRLP EVQLPKVPEM KVPEMKLPKV PEMKLPEMKL 600
    PEVQLPKVPE MAVPDVHLPE VQLPKVPEMK LPEMKLPEVK LPKVPEMAVP 650
    DVHLPEVQLP KVPEMKLPKM PEMAVPEVRL PEVQLPKVSE MKLPKVPEMA 700
    VPDVHLPEVQ LPKVCEMKVP DMKLPEIKLP KVPEMAVPDV HLPEVQLPKV 750
    SEIRLPEMQV PKVPDVHLPK APEVKLPRAP EVQLKATKAE QAEGMEFGFK 800
    MPKMTMPKLG RAESPSRGKP GEAGAEVSGK LVTLPCLQPE VDGEAHVGVP 850
    SLTLPSVELD LPGALGLQGQ VPAAKMGKGE RVEGPEVAAG VREVGFRVPS 900
    VEIVTPQLPA VEIEEGRLEM IETKVKPSSK FSLPKFGLSG PKVAKAEAEG 950
    AGRATKLKVS KFAISLPKAR VGAEAEAKGA GEAGLLPALD LSIPQLSLDA 1000
    HLPSGKVEVA GADLKFKGPR FALPKFGVRG RDTEAAELVP GVAELEGKGW 1050
    GWDGRVKMPK LKMPSFGLAR GKEAEVQGDR ASPGEKAEST AVQLKIPEVE 1100
    LVTLGAQEEG RAEGAVAVSG MQLSGLKVST AGQVVTEGHD AGLRMPPLGI 1150
    SLPQVELTGF GEAGTPGQQA QSTVPSAEGT AGYRVQVPQV TLSLPGAQVA 1200
    GGELLVGEGV FKMPTVTVPQ LELDVGLSRE AQAGEAATGE GGLRLKLPTL 1250
    GARARVGGEG AEEQPPGAER TFCLSLPDVE LSPSGGNHAE YQVAEGEGEA 1300
    GHKLKVRLPR FGLVRAKEGA EEGEKAKSPK LRLPRVGFSQ SEMVTGEGSP 1350
    SPEEEEEEEE EGSGEGASGR RGRVRVRLPR VGLAAPSKAS RGQEGDAAPK 1400
    SPVREKSPKF RFPRVSLSPK ARSGSGDQEE GGLRVRLPSV GFSETGAPGP 1450
    ARMEGAQAAA V 1461
    Length:1,461
    Mass (Da):154,905
    Last modified:January 11, 2011 - v2
    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

    Sequence cautioni

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

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti406 – 4061A → T.1 Publication
    Corresponds to variant rs117336941 [ dbSNP | Ensembl ].
    VAR_013056
    Natural varianti495 – 4951E → Q.1 Publication
    VAR_013057
    Natural varianti651 – 6511D → N in CMT4F. 1 Publication
    Corresponds to variant rs3814290 [ dbSNP | Ensembl ].
    VAR_069093
    Natural varianti882 – 8821V → A.2 Publications
    Corresponds to variant rs268671 [ dbSNP | Ensembl ].
    VAR_013058
    Natural varianti921 – 9211I → M.1 Publication
    Corresponds to variant rs268673 [ dbSNP | Ensembl ].
    VAR_013059
    Natural varianti935 – 9351K → E.1 Publication
    VAR_013060
    Natural varianti1083 – 10831P → R.1 Publication
    Corresponds to variant rs3745202 [ dbSNP | Ensembl ].
    VAR_013061
    Natural varianti1132 – 11321G → R.2 Publications
    Corresponds to variant rs268674 [ dbSNP | Ensembl ].
    VAR_013062
    Natural varianti1259 – 12591E → K.1 Publication
    VAR_013063
    Natural varianti1359 – 13591Missing.1 Publication
    VAR_013064
    Natural varianti1411 – 14111R → C.1 Publication
    VAR_013065

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 139139Missing in isoform 3. 1 PublicationVSP_040352Add
    BLAST
    Alternative sequencei128 – 14720NIQSL…GALGV → VRVLSPAPALDCPSDPVSAP in isoform 2. 1 PublicationVSP_004363Add
    BLAST
    Alternative sequencei148 – 14611314Missing in isoform 2. 1 PublicationVSP_004364Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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]
    UniGeneiHs.205457.

    Genome annotation databases

    EnsembliENST00000291825; ENSP00000291825; ENSG00000105227. [Q9BXM0-2]
    ENST00000324001; ENSP00000326018; ENSG00000105227. [Q9BXM0-1]
    GeneIDi57716.
    KEGGihsa:57716.
    UCSCiuc002onq.3. human. [Q9BXM0-1]
    uc002ons.3. human. [Q9BXM0-2]

    Polymorphism databases

    DMDMi317373270.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    Inherited peripheral neuropathies mutation db

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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 .
    CCDSi CCDS12556.1. [Q9BXM0-2 ]
    CCDS33028.1. [Q9BXM0-1 ]
    RefSeqi NP_066007.1. NM_020956.2. [Q9BXM0-2 ]
    NP_870998.2. NM_181882.2. [Q9BXM0-1 ]
    UniGenei Hs.205457.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    4CMZ X-ray 2.70 A/B/C 14-104 [» ]
    ProteinModelPortali Q9BXM0.
    SMRi Q9BXM0. Positions 14-104.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 121739. 6 interactions.
    IntActi Q9BXM0. 5 interactions.
    STRINGi 9606.ENSP00000326018.

    PTM databases

    PhosphoSitei Q9BXM0.

    Polymorphism databases

    DMDMi 317373270.

    Proteomic databases

    PaxDbi Q9BXM0.
    PRIDEi Q9BXM0.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000291825 ; ENSP00000291825 ; ENSG00000105227 . [Q9BXM0-2 ]
    ENST00000324001 ; ENSP00000326018 ; ENSG00000105227 . [Q9BXM0-1 ]
    GeneIDi 57716.
    KEGGi hsa:57716.
    UCSCi uc002onq.3. human. [Q9BXM0-1 ]
    uc002ons.3. human. [Q9BXM0-2 ]

    Organism-specific databases

    CTDi 57716.
    GeneCardsi GC19M040899.
    GeneReviewsi PRX.
    H-InvDB HIX0015135.
    HGNCi HGNC:13797. PRX.
    HPAi HPA001868.
    MIMi 145900. phenotype.
    605725. gene.
    614895. phenotype.
    neXtProti NX_Q9BXM0.
    Orphaneti 99952. Charcot-Marie-Tooth disease type 4F.
    64748. Dejerine-Sottas syndrome.
    PharmGKBi PA33843.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG304081.
    HOGENOMi HOG000168246.
    HOVERGENi HBG031836.
    InParanoidi Q9BXM0.
    OMAi GMDYAHA.
    OrthoDBi EOG773XKP.
    PhylomeDBi Q9BXM0.
    TreeFami TF350595.

    Miscellaneous databases

    GeneWikii PRX_(gene).
    GenomeRNAii 57716.
    NextBioi 64638.
    PROi Q9BXM0.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q9BXM0.
    CleanExi HS_PRX.
    Genevestigatori Q9BXM0.

    Family and domain databases

    Gene3Di 2.30.42.10. 1 hit.
    InterProi IPR001478. PDZ.
    [Graphical view ]
    SMARTi SM00228. PDZ. 1 hit.
    [Graphical view ]
    SUPFAMi SSF50156. SSF50156. 1 hit.
    PROSITEi PS50106. PDZ. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. 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.
      , 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.

    Entry informationi

    Entry nameiPRAX_HUMAN
    AccessioniPrimary (citable) accession number: Q9BXM0
    Secondary accession number(s): Q9BXL9, Q9HCF2
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: April 16, 2002
    Last sequence update: January 11, 2011
    Last modified: October 1, 2014
    This is version 132 of the entry and version 2 of the sequence. [Complete history]
    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.

    Miscellaneousi

    Keywords - Technical termi

    3D-structure, Complete proteome, Reference proteome

    Documents

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

    External Data

    Dasty 3