NAV1 - neuron navigator 1 Gene

Also Known as POMFIL3; UNC53H1; STEERIN1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 89796

About NAV1

Cytogenetic location: 1q32.1 Genomic coordinates (GRCh38): 1:201,539,127-201,826,969 (from NCBI)

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 References Source
enables protein binding IPI
IPI: Inferred from physical interaction
25416956 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

neuron navigator 1

  • pore membrane and/or filament interacting like protein 3

NAV1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
NAV1 Q8NEY1 YWHAE Homo sapiens P62258 36931259
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Paramyotonia Congenita Of Von Eulenburg
  • Paramyotonia Congenita

  • PMC

  • Paralysis Periodica Paramyotonica

  • Eulenburg Disease

  • Myotonia Congenita Intermittens

  • Von Eulenburg Paramyotonia Congenita

  • Paralysis Periodica Paramyotonia

  • Von Eulenberg'S Disease

  • Paramyotonia Congenita Without Cold Paralysis

  • Eulenburg Syndrome

  • Paramyotonia

Brugada Syndrome 1
  • BRGDA1

  • Sudden Unexplained Nocturnal Death Syndrome

  • Right Bundle Branch Block, St Segment Elevation, And Sudden Death Syndrome

  • Sunds

  • Brugada Syndrome, Type 1

  • Brugada Syndrome

Paroxysmal Extreme Pain Disorder
  • PEPD

  • Familial Rectal Pain

  • Pexpd

  • Submandibular, Ocular, And Rectal Pain With Flushing

  • Pain, Submandibular, Ocular, And Rectal, With Flushing

  • Rectal Pain, Familial

  • Submandibular, Ocular And Rectal Pain With Flushing

  • Familial Rectal Syndrome

  • Frp

  • Pain Disorder, Paroxysmal, Extreme

Developmental And Epileptic Encephalopathy 13
  • Epileptic Encephalopathy, Early Infantile, 13

  • DEE13

  • Eiee13

  • Developmental And Epileptic Encephalopathy, 13

  • Early Infantile Epileptic Encephalopathy 13

  • Scn8a Encephalopathy

  • Early Infantile Epileptic Encephalopathy-13

  • Scn8a Epilepsy

  • Encephalopathy, Developmental And Epileptic, Type 13

Episodic Pain Syndrome, Familial, 3
  • FEPS3

  • Familial Episodic Pain Syndrome With Predominantly Lower Limb Involvement

  • Familial Episodic Pain Syndrome 3

Long Qt Syndrome 3
  • LQT3

  • Long Qt Syndrome Type 3

  • Long Qt Syndrome-3

  • Qt Syndrome, Long, Type 3

Hyperkalemic Periodic Paralysis
  • HYPP

  • Gamstorp Disease

  • Gamstorp Episodic Adynamy

  • Adynamia Episodica Hereditaria With Or Without Myotonia

  • Familial Hyperkalemic Periodic Paralysis

  • Hyperkpp

  • Hyperpp

  • Adynamia Episodica Hereditaria

  • Primary Hyperkalemic Periodic Paralysis

  • Hyperkalemic Periodic Paralysis, Type 2

  • Sodium Channel Muscle Disease

  • Familial Hyperpp

  • Hyperkalemic Pp

  • Primary Hyperpp

  • Periodic Paralysis Hyperkalemic

  • Periodic Paralysis Normokalemic

  • NKPP

  • Periodic Paralysis Eukalemic

  • Paralysis, Hyperkalemic Periodic

  • Paralysis, Periodic, Hyperkalemic

  • Potassium Aggravated Myotonia

Familial Periodic Paralysis
  • Genetic Periodic Paralysis

  • Paralyses, Familial Periodic

Erythromelalgia
  • Primary Erythromelalgia

  • Erythermalgia

  • Primary Erythermalgia

  • Mitchell Disease

  • Familial Erythromelalgia

Migraine, Familial Hemiplegic, 3
  • FHM3

  • Familial Hemiplegic Migraine 3

  • Mhp3

  • Migraine, Hemiplegic, Familial, Type 3

Trigeminal Nerve Disease
  • Trigeminal Nerve Diseases

  • Disorders Of 5th Cranial Nerve

  • Disorders Of The Fifth Cranial Nerve

Hypokalemic Periodic Paralysis, Type 1
  • Hypokalemic Periodic Paralysis

  • Hokpp

  • Hypopp

  • Westphall Disease

  • HOKPP1

  • Familial Hypokalemic Periodic Paralysis

  • Familial Periodic Paralysis

  • Westphal Disease

  • Hypokalemic Periodic Paralysis Type 1

  • Hypokalemic Familial Periodic Paralysis

  • Periodic Hypokalemic Paralysis

  • Periodic Paralysis I

  • Hypokpp

  • Primary Hypokalemic Periodic Paralysis

  • Periodic Paralysis Hypokalemic 1

  • Paralysis, Hypokalemic, Periodic

  • Paralysis, Hypokalemic, Periodic, Type 1

Somatoform Disorder
  • Physiological Malfunction Arising From Mental Factor

  • Psychosomatic Disorder

  • Psychophysiologic Disorders

Paine Syndrome
  • Pain Disorder

  • Pain

  • Microcephaly With Spastic Diplegia

  • Pain Syndrome

Autonomic Nervous System Disease
  • Autonomic Nervous System Dysfunction

  • Autonomic Nervous System Disorders

  • Autonomic Nervous System Disorder

  • Autonomic Nervous System Diseases

  • Abnormality Of The Autonomic Nervous System

Dravet Syndrome
  • Severe Myoclonic Epilepsy Of Infancy

  • Severe Myoclonic Epilepsy In Infancy

  • Smei

  • Epileptic Encephalopathy, Early Infantile, 6

  • DRVT

  • Developmental And Epileptic Encephalopathy 6a

  • Dee6a

  • Eiee6

  • Developmental And Epileptic Encephalopathy, 6

  • Dee6

  • Developmental And Epileptic Encephalopathy 6

  • Early Infantile Epileptic Encephalopathy 6

  • Myoclonic Epilepsy, Severe, Of Infancy

  • Sme

  • Severe Myoclonus Epilepsy Of Infancy

  • Borderline Smei

  • Smeb

  • Smeb-M

  • Smeb-O

  • Smeb-Sw

  • Smei-Borderland

  • Smei-Borderland More Than One Feature

  • Smei-Borderland-Myoclonic Seizures

  • Smei-Borderland-Spike Wave

  • Intractable Childhood Epilepsy With Generalized Tonic-Clonic Seizures

  • ICEGTC

  • Infantile Severe Myoclonic Epilepsy

  • Epilepsy, Intractable Childhood, With Generalized Tonic-Clonic Seizures

Brugada Syndrome
  • Sudden Unexpected Nocturnal Death Syndrome

  • Sudden Unexplained Nocturnal Death Syndrome

  • Bangungut

  • Brugada Type Idiopathic Ventricular Fibrillation

  • Pokkuri Death Syndrome

  • Sunds

  • Idiopathic Ventricular Fibrillation, Brugada Type

  • Sudden Unexplained Death

  • Dream Disease

  • Right Bundle Branch Block, St Segment Elevation, And Sudden Death Syndrome

  • Sudden Unexplained Death Syndrome

  • Suds

  • Sunds - [Sudden Unexplained Nocturnal Death Syndrome]

Long Qt Syndrome
  • Romano-Ward Syndrome

  • Long Q-T Syndrome

  • Lqt

  • Qt Syndrome, Long

  • Congenital Long Qt Syndrome

  • Familial Long Qt Syndrome

Familial Febrile Seizures
  • Familial Febrile Convulsions

  • Feb

  • Febrile Seizures, Familial

Generalized Epilepsy With Febrile Seizures Plus
  • Gefs+

  • Genetic Epilepsy With Febrile Seizures Plus

  • Generalized Epilepsy With Febrile Seizures-Plus

  • Genetic Epilepsy With Febrile Seizures-Plus

  • Epilepsy, Generalized, With Febrile Seizures Plus

Long Qt Syndrome 1
  • Romano-Ward Syndrome

  • LQT1

  • Ward-Romano Syndrome

  • Rws

  • Ventricular Fibrillation With Prolonged Qt Interval

  • Wrs

  • Long Qt Syndrome 1, Acquired, Susceptibility To

  • Long Qt Syndrome 1, Acquired

  • Romano-Ward Long Qt Syndrome

  • Long Qt Syndrome Type 1

  • Long Qt Syndrome-1

  • Acquired Susceptibility To Long Qt Syndrome 1

  • Qt Syndrome, Long, Type 1

Developmental And Epileptic Encephalopathy
  • Encephalopathy, Developmental And Epileptic

Early Infantile Epileptic Encephalopathy
  • Early Infantile Epileptic Encephalopathy With Burst-Suppression

  • Early Infantile Epileptic Encephalopathy With Suppression Bursts

  • Eiee

  • Early Infantile Epileptic Encephalopathy With Suppression-Bursts

  • Ohtahara Syndrome

  • Encephalopathy, Epileptic, Early Infantile

Familial Atrial Fibrillation
  • Atrial Fibrillation, Familial

  • Atfb

  • Atrial Fibrillation Autosomal Dominant

  • Autosomal Dominant Atrial Fibrillation

  • Auricular Fibrillation

  • Atrial Fibrillation

  • Atrial Fibrillation, Familial, 1

Migraine With Or Without Aura 1
  • Migraine

  • Migraine With Or Without Aura, Susceptibility To, 1

  • Migraine Disorder

  • Migraine Variant

  • Migraines

  • Migraine Disorders

  • Mgr1

  • Mgau

  • Ma

  • Migraine With Or Without Aura

  • Classic Migraine

  • Common Migraine

  • Disorder, Migraine

  • Headache Migraine

  • Headache Migrainous

  • Migraine Headache

  • Migraine Syndrome

  • Headache Including Migraine

  • Migraine, Susceptibility To

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source 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