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Q9BXM0

- PRAX_HUMAN

UniProt

Q9BXM0 - PRAX_HUMAN

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Protein

Periaxin

Gene

PRX

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

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 - Biological processi

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

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-KW
  2. nucleus Source: UniProtKB-KW
  3. plasma membrane Source: UniProtKB-KW
Complete GO annotation...

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 – 225Combined sources
Beta strandi26 – 283Combined sources
Beta strandi32 – 387Combined sources
Beta strandi41 – 477Combined sources
Helixi52 – 565Combined sources
Beta strandi64 – 718Combined sources
Helixi77 – 8711Combined sources
Beta strandi90 – 9910Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
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.
GeneTreeiENSGT00530000063716.
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

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

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:
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]
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:
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 .
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:
PDBei
RCSB PDBi
PDBji
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.
GeneTreei ENSGT00530000063716.
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

« Hide 'large scale' publications
  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: November 26, 2014
This is version 134 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