InnateDB Protein
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IDBP-51462.7
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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PRX
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Protein Name
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periaxin
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000291825
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InnateDB Gene
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IDBG-51460 (PRX)
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Protein Structure
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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.
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Subcellular Localization |
Nucleus {ECO:0000250}.Isoform 1: Cell membrane {ECO:0000250}. Note=Associated with plasma membrane during myelination. {ECO:0000250}.Isoform 2: Cytoplasm {ECO:0000250}.
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Disease Associations |
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. {ECO:0000269PubMed:22847150}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Isoform 1 and isoform 2 are found in sciatic nerve and Schwann cells. {ECO:0000269PubMed:11157804}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 8 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated |
Total |
8
[view]
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Protein-Protein |
8
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
1 [view]
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR001478
PDZ domain
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PFAM |
PF00595
PF13180
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PRINTS |
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PIRSF |
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SMART |
SM00228
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TIGRFAMs |
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Modification |
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SwissProt |
Q9BXM0
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PhosphoSite |
PhosphoSite-Q9BXM0
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
57716
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UniGene |
Hs.205457
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RefSeq |
NP_066007
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HUGO |
HGNC:13797
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OMIM |
605725
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CCDS |
CCDS12556
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HPRD |
05758
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IMGT |
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EMBL |
AB046840
AC010271
AF321191
AF321192
BC067266
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GenPept |
AAH67266
AAK19279
AAK19280
BAB13446
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