1. Gene
  2. NAV1 - neuron navigator 1 Gene

NAV1 - neuron navigator 1 Gene

中文名称:神经元导航器 1

种属: Homo sapiens

同用名: POMFIL3; UNC53H1; STEERIN1

基因 ID: 89796 | 基因类型: protein coding

关于 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.

功能概要

该基因属于神经元导航家族,主要在神经系统中表达。编码的蛋白质包含与多种细胞活动相关的 ATP 酶的卷曲螺旋结构域和保守的 AAA 结构域特征。该基因类似于 unc-53,一种参与轴突导向的秀丽隐杆线虫基因。该基因的确切功能尚不清楚,但被认为在神经元发育和再生中发挥作用。可变剪接导致多个转录本变体。[RefSeq 提供,2009 年 11 月]

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 基因产物(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
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
25416956 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断
蛋白主名 其他名称

neuron navigator 1

pore membrane and/or filament interacting like protein 3

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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