Reviewed,
UniProtKB/Swiss-Prot Q9BXM0 (PRAX_HUMAN)
Last modified
January 19, 2010.
Version 90.
History...
Clusters with 100%,
90%,
50% identity |
Documents (5) |
Third-party data |
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Names and origin
| Protein names | Recommended name: Periaxin | ||||
| Gene names |
| ||||
| Organism | Homo sapiens (Human) [Complete proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 1461 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence 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.4 |
| 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 | Defects in PRX are a cause of Dejerine-Sottas syndrome (DSS) [MIM:145900]; also known as Dejerine-Sottas neuropathy (DSN) or hereditary motor and sensory neuropathy III (HMSN3). DSS is a severe degenerating neuropathy of the demyelinating Charcot-Marie-Tooth disease category, with onset by age 2 years. DSS is 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. Ref.4 |
| Sequence similarities | Belongs to the periaxin family. Contains 1 PDZ (DHR) domain. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Cell membrane Cytoplasm Membrane Nucleus |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Disease | Charcot-Marie-Tooth disease Dejerine-Sottas syndrome Neuropathy |
| Domain | Repeat |
| PTM | Phosphoprotein |
| Technical term | Complete proteome |
| Gene Ontology (GO) | |
| Biological process | axon ensheathment Ref.1 Non-traceable author statement. Source: UniProtKB |
| Cellular component | cytoplasm Inferred from electronic annotation. Source: UniProtKB-SubCell nucleusInferred from electronic annotation. Source: UniProtKB-SubCell plasma membraneInferred from electronic annotation. Source: UniProtKB-SubCell |
| Molecular function | protein binding Inferred from physical interaction. Source: IntAct |
| Complete GO annotation... | |
Binary interactions
With | Entry | #Exp. | IntAct | Notes |
|---|---|---|---|---|
| ABL1 | P00519 | 1 | EBI-1753064,EBI-375543 | |
| CRK | P46108 | 1 | EBI-1753064,EBI-886 | |
| FYN | P06241 | 1 | EBI-1753064,EBI-515315 | |
| NCK1 | P16333 | 1 | EBI-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. | ||||||
| Note: Associated with plasma membrane during myelination (By similarity). | ||||||
| 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: 1063-1127: Missing. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 1461 | 1461 | Periaxin | PRO_0000058563 | |||||
Regions | |||||||||
| Domain | 16 – 99 | 84 | PDZ | ||||||
| Repeat | 431 – 435 | 5 | 1 | ||||||
| Repeat | 439 – 443 | 5 | 2 | ||||||
| Repeat | 447 – 451 | 5 | 3 | ||||||
| Repeat | 455 – 459 | 5 | 4 | ||||||
| Repeat | 463 – 467 | 5 | 5 | ||||||
| Repeat | 468 – 472 | 5 | 6 | ||||||
| Repeat | 473 – 477 | 5 | 7 | ||||||
| Repeat | 481 – 485 | 5 | 8 | ||||||
| Repeat | 486 – 490 | 5 | 9 | ||||||
| Repeat | 494 – 498 | 5 | 10 | ||||||
| Repeat | 499 – 503 | 5 | 11 | ||||||
| Repeat | 507 – 511 | 5 | 12 | ||||||
| Repeat | 512 – 516 | 5 | 13 | ||||||
| Repeat | 520 – 524 | 5 | 14 | ||||||
| Repeat | 525 – 529 | 5 | 15 | ||||||
| Repeat | 533 – 537 | 5 | 16 | ||||||
| Repeat | 538 – 542 | 5 | 17 | ||||||
| Repeat | 546 – 550 | 5 | 18 | ||||||
| Repeat | 551 – 555 | 5 | 19 | ||||||
| Repeat | 559 – 563 | 5 | 20 | ||||||
| Repeat | 564 – 568 | 5 | 21 | ||||||
| Repeat | 572 – 576 | 5 | 22 | ||||||
| Repeat | 577 – 581 | 5 | 23 | ||||||
| Repeat | 582 – 586 | 5 | 24 | ||||||
| Repeat | 590 – 594 | 5 | 25 | ||||||
| Repeat | 595 – 599 | 5 | 26 | ||||||
| Repeat | 600 – 604 | 5 | 27 | ||||||
| Repeat | 608 – 612 | 5 | 28 | ||||||
| Repeat | 613 – 617 | 5 | 29 | ||||||
| Repeat | 618 – 622 | 5 | 30 | ||||||
| Repeat | 626 – 630 | 5 | 31 | ||||||
| Repeat | 631 – 635 | 5 | 32 | ||||||
| Repeat | 636 – 640 | 5 | 33 | ||||||
| Repeat | 644 – 648 | 5 | 34 | ||||||
| Repeat | 649 – 653 | 5 | 35 | ||||||
| Repeat | 654 – 658 | 5 | 36 | ||||||
| Repeat | 662 – 666 | 5 | 37 | ||||||
| Repeat | 670 – 674 | 5 | 38 | ||||||
| Repeat | 675 – 679 | 5 | 39 | ||||||
| Repeat | 683 – 687 | 5 | 40 | ||||||
| Repeat | 688 – 692 | 5 | 41 | ||||||
| Repeat | 696 – 700 | 5 | 42 | ||||||
| Repeat | 701 – 705 | 5 | 43 | ||||||
| Repeat | 706 – 710 | 5 | 44 | ||||||
| Repeat | 714 – 718 | 5 | 45 | ||||||
| Repeat | 719 – 723 | 5 | 46 | ||||||
| Repeat | 724 – 728 | 5 | 47 | ||||||
| Repeat | 732 – 736 | 5 | 48 | ||||||
| Repeat | 737 – 741 | 5 | 49 | ||||||
| Repeat | 742 – 746 | 5 | 50 | ||||||
| Repeat | 750 – 754 | 5 | 51 | ||||||
| Repeat | 755 – 759 | 5 | 52 | ||||||
| Repeat | 760 – 764 | 5 | 53 | ||||||
| Repeat | 771 – 775 | 5 | 54 | ||||||
| Repeat | 779 – 783 | 5 | 55 | ||||||
| Region | 431 – 783 | 353 | 55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]-[AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER] | ||||||
| Motif | 118 – 196 | 79 | Nuclear localization signal By similarity | ||||||
| Compositional bias | 118 – 196 | 79 | Arg/Lys-rich (basic) | ||||||
| Compositional bias | 1098 – 1235 | 138 | Glu-rich (acidic) | ||||||
| Compositional bias | 1353 – 1361 | 9 | Poly-Glu | ||||||
Amino acid modifications | |||||||||
| Modified residue | 381 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 1082 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 1328 | 1 | Phosphoserine Ref.5 | ||||||
Natural variations | |||||||||
| Alternative sequence | 128 – 147 | 20 | NIQSL…GALGV → VRVLSPAPALDCPSDPVSAP in isoform 2. | VSP_004363 | |||||
| Alternative sequence | 148 – 1461 | 1314 | Missing in isoform 2. | VSP_004364 | |||||
| Alternative sequence | 1063 – 1127 | 65 | Missing in isoform 3. | VSP_004365 | |||||
| Natural variant | 406 | 1 | A → T | VAR_013056 | |||||
| Natural variant | 495 | 1 | E → Q | VAR_013057 | |||||
| Natural variant | 882 | 1 | V → A: dbSNP rs268671. Ref.1 Ref.2 | VAR_013058 | |||||
| Natural variant | 921 | 1 | I → M: dbSNP rs268673. Ref.1 | VAR_013059 | |||||
| Natural variant | 935 | 1 | K → E | VAR_013060 | |||||
| Natural variant | 1083 | 1 | P → R: dbSNP rs3745202. Ref.1 | VAR_013061 | |||||
| Natural variant | 1132 | 1 | R → G: dbSNP rs268674. Ref.1 Ref.2 | VAR_013062 | |||||
| Natural variant | 1259 | 1 | E → K | VAR_013063 | |||||
| Natural variant | 1359 | 1 | Missing | VAR_013064 | |||||
| Natural variant | 1411 | 1 | R → C | VAR_013065 | |||||
Experimental info | |||||||||
| Sequence conflict | 1 – 9 | 9 | MEARSRSAE → NATPRRPLQ in BAB13446. Ref.2 | ||||||
Sequences
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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: 11133365] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), VARIANTS THR-406; GLN-495; ALA-882; MET-921; GLU-935; ARG-1083; GLY-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: 10997877] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), VARIANTS ALA-882 AND GLY-1132. Tissue: Brain. |
| [3] | "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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: PNS. |
| [4] | "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: 11157804] [Abstract] Cited for: DISEASE, TISSUE SPECIFICITY. |
| [5] | "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks." Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M. Cell 127:635-648(2006) [PubMed: 17081983] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1328, MASS SPECTROMETRY. Tissue: Epithelium. |
| + | 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. BC067266 mRNA. Translation: AAH67266.1. |
| IPI | IPI00024853. IPI00221068. IPI00221069. |
| RefSeq | NP_066007.1. NP_870998.2. |
| UniGene | Hs.205457 |
3D structure databases | |
| SMR | Q9BXM0. Positions 4-114. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q9BXM0. 4 interactions. |
| STRING | Q9BXM0. |
PTM databases | |
| PhosphoSite | Q9BXM0. |
Proteomic databases | |
| PRIDE | Q9BXM0. |
Genome annotation databases | |
| Ensembl | ENST00000324001; ENSP00000326018; ENSG00000105227; Homo sapiens. [Genome view] |
| GeneID | 57716. |
| KEGG | hsa:57716. |
| UCSC | uc002onq.1. human. uc002ons.1. human. |
Organism-specific databases | |
| CTD | 57716. |
| GeneCards | GC19M045591. |
| H-InvDB | HIX0015135. |
| HGNC | HGNC:13797. PRX. |
| HPA | HPA001868. |
| MIM | 145900. phenotype. 605725. gene. |
| Orphanet | 99952. Charcot-Marie-Tooth disease, type 4F. 64748. Dejerine-Sottas syndrome. |
| PharmGKB | PA142671957. |
| HUGE | Search... |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | prNOG17691. |
| HOGENOM | HBG564646. |
| HOVERGEN | Q9BXM0. |
| InParanoid | Q9BXM0. |
Gene expression databases | |
| ArrayExpress | Q9BXM0. |
| Bgee | Q9BXM0. |
| CleanEx | HS_PRX. |
| Genevestigator | Q9BXM0. |
| GermOnline | ENSG00000105227. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR001478. PDZ/DHR/GLGF. [Graphical view] |
| Pfam | PF00595. PDZ. 1 hit. [Graphical view] |
| SMART | SM00228. PDZ. 1 hit. [Graphical view] |
| PROSITE | PS50106. PDZ. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other Resources | |
| NextBio | 64638. |
| SOURCE | Search... |
Entry information
| Entry name | PRAX_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q9BXM0 Secondary accession number(s): Q9BXL9, Q9HCF2 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
| Disclaimer | Any 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
| Human chromosome 19 Human chromosome 19: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with


