NAV1 - neuron navigator 1 Gene
Also Known as POMFIL3; UNC53H1; STEERIN1
生物種: Homo sapiens
About NAV1
This gene has 10 transcripts (splice variants), 266 orthologues and 2 paralogues. Ubiquitous expression in brain (RPKM 9.5), fat (RPKM 4.5) and 22 other tissues.
Summary
This gene belongs to the neuron navigator family and is expressed predominantly in the nervous system. The encoded protein contains coiled-coil domains and a conserved AAA domain characteristic for ATPases associated with a variety of cellular activities. This gene is similar to unc-53, a Caenorhabditis elegans gene involved in axon guidance. The exact function of this gene is not known, but it is thought to play a role in in neuronal development and regeneration. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2009]
NAV1 Products (9)
| mRNA | Protein | Name |
|---|---|---|
| NM_001167738.2 | NP_001161210.1 | neuron navigator 1 isoform 2 |
| NM_001389611.1 | NP_001376540.1 | neuron navigator 1 isoform 3 |
| NM_001389612.1 | NP_001376541.1 | neuron navigator 1 isoform 4 |
| NM_001389613.1 | NP_001376542.1 | neuron navigator 1 isoform 5 |
| NM_001389614.1 | NP_001376543.1 | neuron navigator 1 isoform 6 |
| NM_001389615.1 | NP_001376544.1 | neuron navigator 1 isoform 7 |
| NM_001389616.1 | NP_001376545.1 | neuron navigator 1 isoform 8 |
| NM_001389617.1 | NP_001376546.1 | neuron navigator 1 isoform 9 |
| NM_020443.5 | NP_065176.3 | neuron navigator 1 isoform 1 |
| Molecular Function GO Annotation | Evidence | 参考文献 | 由来 |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
25416956 | GOA |
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
neuron navigator 1 |
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関連疾患
| Diseases | Alias | |
|---|---|---|
| Paramyotonia Congenita Of Von Eulenburg |
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| Brugada Syndrome 1 |
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| Paroxysmal Extreme Pain Disorder |
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| Developmental And Epileptic Encephalopathy 13 |
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| Episodic Pain Syndrome, Familial, 3 |
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| Long Qt Syndrome 3 |
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| Hyperkalemic Periodic Paralysis |
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| Familial Periodic Paralysis |
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| Erythromelalgia |
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| Migraine, Familial Hemiplegic, 3 |
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| Trigeminal Nerve Disease |
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| Hypokalemic Periodic Paralysis, Type 1 |
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| Somatoform Disorder |
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| Paine Syndrome |
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| Autonomic Nervous System Disease |
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| Dravet Syndrome |
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| Brugada Syndrome |
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| Long Qt Syndrome |
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| Familial Febrile Seizures |
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| Generalized Epilepsy With Febrile Seizures Plus |
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| Long Qt Syndrome 1 |
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| Developmental And Epileptic Encephalopathy |
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| Early Infantile Epileptic Encephalopathy |
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| Familial Atrial Fibrillation |
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| Migraine With Or Without Aura 1 |
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Orthologs Information
| 生物種 | Symbol | 由来 | ID |
|---|---|---|---|
| Canis familiaris | NAV1 | VGNC | VGNC:43629 |
| Mus musculus | NAV1 | MGD | MGI:2183683 |
| Bos taurus | NAV1 | VGNC | VGNC:59352 |
| Macaca mulatta | NAV1 | VGNC | VGNC:74967 |
| Rattus norvegicus | NAV1 | RGD | RGD:1590261 |
| Felis catus | NAV1 | VGNC | VGNC:63727 |
| Others | NAV1 | NCBI |