ATP1A3 - ATPase Na+/K+ transporting subunit alpha 3 Gene

Also Known as RDP; AHC2; CAPOS; DEE99; DYT12; ATP1A1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 478

About ATP1A3

Cytogenetic location: 19q13.2 Genomic coordinates (GRCh38): 19:41,966,582-41,994,230 (from NCBI)

This gene has 14 transcripts (splice variants), 135 orthologues, 21 paralogues and is associated with 9 phenotypes. Biased expression in brain (RPKM 145.6), heart (RPKM 51.8) and 2 other tissues.

Summary

The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The catalytic subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes an alpha 3 subunit. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]

ATP1A3 Products (3)

mRNA Protein Name
NM_001256213.2 NP_001243142.1 sodium/potassium-transporting ATPase subunit alpha-3 isoform 2
NM_001256214.2 NP_001243143.1 sodium/potassium-transporting ATPase subunit alpha-3 isoform 3
NM_152296.5 NP_689509.1 sodium/potassium-transporting ATPase subunit alpha-3 isoform 1
Molecular Function GO Annotation Evidence References Source
enables P-type sodium:potassium-exchanging transporter activity IDA
IDA: Inferred from direct assay
10636900 GOA
enables P-type sodium:potassium-exchanging transporter activity IMP
IMP: Inferred from mutant phenotype
15260953 GOA
enables amyloid-beta binding IDA
IDA: Inferred from direct assay
26224839 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
32814053 GOA
enables protein-folding chaperone binding IPI
IPI: Inferred from physical interaction
10636900 GOA
Biological Process GO Annotation Evidence References Source
involved in intracellular potassium ion homeostasis IDA
IDA: Inferred from direct assay
10636900 GOA
involved in intracellular sodium ion homeostasis IDA
IDA: Inferred from direct assay
10636900 GOA
involved in neuron projection maintenance IGI
IGI: Inferred from genetic interaction
26224839 GOA
involved in potassium ion import across plasma membrane IDA
IDA: Inferred from direct assay
10636900 GOA
involved in sodium ion export across plasma membrane IDA
IDA: Inferred from direct assay
10636900 GOA
Cellular Component GO Annotation Evidence References Source
located in Golgi apparatus IDA
IDA: Inferred from direct assay
15260953 GOA
located in axon IDA
IDA: Inferred from direct assay
26224839 GOA
located in endoplasmic reticulum IDA
IDA: Inferred from direct assay
15260953 GOA
located in neuronal cell body IDA
IDA: Inferred from direct assay
26224839 GOA
located in organelle membrane IGI
IGI: Inferred from genetic interaction
19751721 GOA
located in plasma membrane IDA
IDA: Inferred from direct assay
15260953 GOA
located in plasma membrane IGI
IGI: Inferred from genetic interaction
19751721 GOA
part of sodium:potassium-exchanging ATPase complex IDA
IDA: Inferred from direct assay
10636900 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

ATP1A3 Protein Structure

Cation_ATPase_N

Cation_ATPase_N: Cation transporter/ATPase, N-terminus (33 - 101)

E1-E2_ATPase

E1-E2_ATPase: E1-E2 ATPase (125 - 356)

Hydrolase

Hydrolase: haloacid dehalogenase-like hydrolase (361 - 719)

Cation_ATPase_C

Cation_ATPase_C: Cation transporting ATPase, C-terminus (789 - 998)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1013 a.a.
Protein Preferred Names Protein Names

sodium/potassium-transporting ATPase subunit alpha-3

  • ATPase, Na+/K+ transporting, alpha 3 polypeptide

ATP1A3 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
ATP1A3 P13637 CAMK2A Homo sapiens Q9UQM7 32814053
Intra
ATP1A3 P13637 CAMK2A Homo sapiens Q9UQM7 32814053
Intra
ATP1A3 P13637 CAMK2A Homo sapiens Q9UQM7 32814053
Intra
ATP1A3 P13637 BOK Homo sapiens Q9UMX3 32814053
Intra
ATP1A3 P13637 BOK Homo sapiens Q9UMX3 32814053
Intra
ATP1A3 P13637 BOK Homo sapiens Q9UMX3 32814053
Cross: Cross-species interaction Intra: Intraspecies interaction

ATP1A3 Antibodies

Cat. No. Product Name Application Reactivity
HY-P82717 ATP1A3 Antibody (YA2462) WB Human, Mouse, Rat
HY-P85863 Sodium Potassium ATPase Antibody (YA5555) IHC-P, ICC/IF, ELISA Human, Mouse, Rat
HY-P86104 Sodium Potassium ATPase Antibody (YA5796) WB, IHC-P, ICC/IF, IP, ELISA Human, Mouse, Rat

Related Diseases

Diseases Alias
Dystonia 12
  • DYT12

  • Rdp

  • Generalized Dystonia

  • Dystonia-12

  • Rapid-Onset Dystonia-Parkinsonism

  • Familial Dystonia

  • Dystonia Musculorum Deformans

  • Dystonic Disorders

  • Idiopathic Familial Dystonia

  • Dystonia-Parkinsonism, Rapid-Onset

  • Fragments Of Torsion Dystonia

  • Dyt-Atp1a3

  • Rapid-Onset Dystonia Parkinsonism

  • Rodp

  • Dystonia, Type 12

  • Dystonia 3, Torsion, X-Linked

  • Idiopathic Non-Familial Dystonia

  • Symptomatic Torsion Dystonia

  • Dystonia Disorders

Alternating Hemiplegia Of Childhood 2
  • AHC2

  • Hemiplegia, Alternating, Of Childhood, Type 2

Developmental And Epileptic Encephalopathy 99
  • DEE99

Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
  • Capos Syndrome

  • CAPOS

Autosomal Dominant Optic Atrophy Plus Syndrome
  • Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome

  • Capos Syndrome

  • Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy

  • Optic Atrophy-Deafness-Polyneuropathy-Myopathy Syndrome

  • Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy And Sensorinural Hearing

  • Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy And Sensorinural Hearing Loss

  • Capos

  • Cerebellar Ataxia - Areflexia - Pes Cavus - Optic Atrophy - Sensorineural Hearing Loss

  • Dominant Optic Atrophy Plus Syndrome

  • Dominant Optic Atrophy, Deafness, Ptosis, Ophthalmoplegia, Dystaxia, And Myopathy

  • Optic Atrophy - Deafness- Polyneuropathy - Myopathy

  • Treft-Sanborn-Carey Syndrome

  • Doa+

  • Optic Atrophy-Hearing Loss-Polyneuropathy-Myopathy Syndrome

  • Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Deafness Syndrome

  • Optic Atrophy Autosomal Dominant

  • Treft Sanborn Carey Syndrome

Dystonia
  • Dystonic Disease

  • Dystonic Disorder

  • Dystonia Disorders

  • Neuroleptic Dyskinesia

Hemiplegia
  • Infantile Hemiplegia

  • Postnatal Infantile Hemiplegia

  • Hemiplegia, Infantile

Oculogyric Crisis
Atp1a3-Related Neurologic Disorders
Alternating Hemiplegia Of Childhood
  • Alternating Hemiplegia

  • Ahc

  • Alternating Hemiplegia Syndrome

  • Hemiplegia, Alternating, Of Childhood

  • Hemiplegia, Crossed

Seizures, Benign Familial Neonatal, 1
  • Myokymia

  • BFNS1

  • Seizures, Benign Neonatal, 1

  • Myokymia With Neonatal Epilepsy

  • Seizures, Benign Familial Neonatal 1

  • Benign Familial Neonatal Convulsions 1

  • Benign Neonatal Epilepsy 1

  • Benign Neonatal Epilepsy 1 And/Or Myokymia

  • Benign Neonatal Epilepsy 1 With Myokymia

  • Benign Neonatal Epilepsy Atypical Severe

  • Bfnc/Myokymia Syndrome

  • Bfnc1

  • Convulsions Benign Familial Neonatal 1 With Myokymia

  • Ebn1

  • Myokymia Isolated

  • Epilepsy, Benign Neonatal, 1, And/Or Myokymia

  • Seizures, Benign Neonatal, Type 1

Non-Specific Early-Onset Epileptic Encephalopathy
  • Undetermined Early-Onset Epileptic Encephalopathy

  • Non-Specific Eoee

  • Undetermined Eoee

Hydrocephalus, Congenital, 1
  • Hydrocephaly

  • Ventriculomegaly

  • Hydrocephalus, Nonsyndromic, Autosomal Recessive 1

  • HYC1

  • Congenital Non-Communicating Hydrocephalus

  • Hydrocephalus, Nonsyndromic, Autosomal Recessive 1, Formerly

  • Congenital Obstructive Hydrocephalus

  • Hydrocephalus, Non-Syndromic, Autosomal Recessive 1

  • Hydrocephalus

Epicanthus
Epilepsy
  • Epilepsy Syndrome

  • Epileptic Syndrome

  • Epilepsies

  • Symptomatic Epilepsies

  • Post Traumatic Epilepsy

  • Traumatic Epilepsy

  • Traumatic Epileptic

  • Epilepsy Due To Hippocampal Sclerosis

  • Epilepsy With Ammon'S Horn Sclerosis

  • Epilepsy Due To Cortical Dysplasia

  • Epilepsy Due To Neuronal Migration Disorders

Parkinsonism
  • Parkinsonism-Plus

  • Idiopathic Parkinsonism

  • Primary Parkinsonism

  • Paralysis Agitans Syndrome

  • Parkinsonian Syndrome

  • Trembling Paralysis

  • Paralysis Agitans

  • Shaking Palsy

  • Shaking Paralysis

Familial Hemiplegic Migraine
  • Hemiplegic Migraine, Familial

  • Hemiplegic-Ophthalmoplegic Migraine

  • Fhm

  • Hemiplegic Migraine Familial

Quadriplegia
  • Tetraplegia

  • Tetraplegias

Movement Disease
  • Movement Disorders

  • Movement Disorder

Hemidystonia
Dystonia 3, Torsion, X-Linked
  • X-Linked Dystonia-Parkinsonism

  • DYT3

  • Xdp

  • Lubag

  • Dystonia-Parkinsonism, X-Linked

  • Torsion Dystonia-Parkinsonism, Filipino Type

  • Dyt-Taf1

  • X-Linked Dystonia-Parkinsonism Syndrome

  • X-Linked Torsion Dystonia-Parkinsonism Syndrome

  • Dystonia Musculorum Deformans

  • X-Linked Dystonia-Parkinsonism/Lubag

  • Lubag Syndrome

  • Dystonia-3

  • Torsion Dystonia-Parkinsonism Filipino Type

  • X-Linked Torsion Dystonia 3

  • Dystonia, Torsion, X-Linked, Type 3

Migraine, Familial Hemiplegic, 2
  • FHM2

  • Mhp2

  • Migraine, Familial Basilar

  • Familial Hemiplegic Migraine 2

  • Familial Hemiplegic Migraine-2

  • Familiar Basilar Migraine

  • Migraine, Hemiplegic, Familial, Type 2

Multifocal Dystonia
Cowden Syndrome 5
  • CWS5

  • Cowden Syndrome, Type 5

Oromandibular Dystonia
Polymicrogyria
  • Pmg

Spasmodic Dystonia
  • Laryngeal Dystonia

Spinocerebellar Ataxia 26
  • Spinocerebellar Ataxia Type 26

  • SCA26

  • Ataxia, Spinocerebellar, Type 26

Segmental Dystonia
Cervical Dystonia
  • Spasmodic Torticollis

46,Xy Sex Reversal 6
  • SRXY6

  • 46,Xy Sex Reversal, Partial Or Complete, Map3k1-Related

  • 46,Xy Gonadal Dysgenesis, Partial Or Complete, Map3k1-Related

  • 46xy Sex Reversal 6

  • 46,Xy Gonadal Dysgenesis Partial Or Complete Map3k1-Related

  • 46,Xy Sex Reversal Partial Or Complete Map3k1-Related

Cortical Deafness
Focal Dystonia
  • Dystonia, Focal, Task-Specific

Neuropathy, Hereditary Sensory And Autonomic, Type Iia
  • Hereditary Sensory And Autonomic Neuropathy Type 2

  • Hsan2

  • HSAN2A

  • Morvan Disease

  • Hereditary Sensory And Autonomic Neuropathy Type Ii

  • Neurogenic Acroosteolysis

  • Hsan Iia

  • Hsn2a

  • Hsn Iia

  • Neuropathy, Progressive Sensory, Of Children

  • Neuropathy, Congenital Sensory

  • Neuropathy, Hereditary Sensory And Autonomic, Type Ii

  • Hereditary Sensory And Autonomic Neuropathy Type 2a

  • Hereditary Sensory And Autonomic Neuropathy Type Iia

  • Hsanii

  • Congenital Sensory Neuropathy

  • Hsan Type Ii

  • Morvan Syndrome

  • Neuropathy, Hereditary Sensory And Autonomic, Type 2a

  • Morvan'S Disease

  • Neuropathy, Hereditary Sensory, Type Iia

  • Acroosteolysis, Neurogenic

  • Acroosteolysis, Giaccai Type

  • Neuropathy, Hereditary Sensory Radicular, Autosomal Recessive

  • Hereditary Sensory Autonomic Neuropathy Type 2

  • Giaccai Type Acroosteolysis

  • Hereditary Sensory Neuropathy Type 2

  • Hereditary Sensory Radicular Neuropathy, Recessive Form

  • Hsan2b

  • Hsan2c

  • Hsan2d

  • Hsn Type Ii

  • Autosomal Recessive Sensory Radicular Neuropathy

  • Limbic Encephalitis-Neuromyotonia-Hyperhidrosis-Polyneuropathy Syndrome

  • Morvan Fibrillary Chorea

  • Neuropathy, Hereditary Sensory And Autonomic, 2a

  • Acroosteolysis Giaccai Type

  • Hereditary Sensory Neuropathy Type Iia

  • Hereditary Sensory Radicular Neuropathy Autosomal Recessive

  • Progressive Sensory Neuropathy Of Children

  • Neuropathy Congenital Sensory

  • Charcot-Marie-Tooth Disease

  • Neuropathy, Sensory And Autonomic, Hereditary, Type Iia

  • Hereditary Sensory Autonomic Neuropathy, Type 2

  • Hereditary Motor And Sensory-Neuropathy Type Ii

  • Sensory Neuropathy, Hereditary

  • Neuropathy, Hereditary Sensory And Autonomic, Type Iib

Dystonia, Dopa-Responsive
  • Dystonia 5

  • Dopa-Responsive Dystonia

  • DRD

  • Dyt5

  • Dystonia-Parkinsonism With Diurnal Fluctuation

  • Dyt-Th

  • Hpd With Diurnal Fluctuation

  • Hereditary Progressive Dystonia With Diurnal Fluctuation

  • Dystonia, Progressive, With Diurnal Variation

  • Segawa Syndrome, Autosomal Dominant

  • Dystonia, Dopa-Responsive, Autosomal Dominant

  • Dopa-Responsive Dystonia, Autosomal Dominant

  • Dystonia, Dopa-Responsive, With Or Without Hyperphenylalaninemia

  • Dyt-Gch1

  • Dyt-Spr

  • Dystonia 5, Dopa-Responsive Type

  • Hereditary Progressive Dystonia With Marked Diurnal Fluctuation

  • Autosomal Dominant Dopa-Responsive Dystonia

  • Autosomal Dominant Segawa Syndrome

  • Dystonia-5

  • Progressive Dystonia With Diurnal Fluctuation

  • Dystonia, Type 5, Dopa-Responsive Type

Dystonia 11, Myoclonic
  • Myoclonic Dystonia

  • Myoclonus-Dystonia Syndrome

  • DYT11

  • Myoclonic Dystonia 11

  • Alcohol-Responsive Dystonia

  • Myoclonus, Hereditary Essential

  • Dystonia-11, Myoclonic

  • Myoclonus-Dystonia

  • Dystonia 11

  • Hereditary Essential Myoclonus

  • Dystonia, Alcohol-Responsive

  • Dyt-Sgce

  • Dystonia, Alcohol Responsive

  • Dystonia-11

  • Dystonia, Myoclonic

  • Dystonia, Myoclonic, Type 11

Hypomagnesemia 2, Renal
  • Renal Hypomagnesemia 2

  • HOMG2

  • Magnesium Wasting, Renal

  • Autosomal Dominant Primary Hypomagnesemia With Hypocalciuria

  • Magnesium Loss, Isolated Renal

  • Isolated Autosomal Dominant Hypomagnesemia

  • Isolated Renal Magnesium Wasting

  • Renal Hypomagnesemia Type 2

  • Hypomagnesemia 2

  • Dominant Renal Hypomagnesemia

  • Hypomagnesemia With Hypocalciuria

  • Isolated Renal Magnesium Loss

  • Renal Magnesium Wasting

  • Hypomagnesemia-2, Renal

  • Renal Hypomagnesemia, Dominant

  • Hypomagnesemia, Type 2, Renal

Developmental And Epileptic Encephalopathy
  • Encephalopathy, Developmental And Epileptic

Mutism
Sensorineural Hearing Loss
  • Sensory Hearing Loss

  • Sensorineural Deafness

  • Sensorineural Hearing Loss Disorder

  • Hearing Loss, Sensorineural

  • Central Hearing Loss

  • High Frequency Deafness

  • High Frequency Hearing Loss

  • High-Frequency Hearing Loss

  • Perceptive Deafness

  • Perceptive Hearing Loss

  • Perceptive Hearing Loss Or Deafness

  • Hearing Loss Sensorineural

  • Deafness Sensorineural

  • Hearing Loss High-Frequency

  • Hearing Loss, Central

  • Hearing Loss, High-Frequency

Spinocerebellar Ataxia, Autosomal Recessive 14
  • Autosomal Recessive Spinocerebellar Ataxia 14

  • SCAR14

  • Sparca1

  • Cerebellar Ataxia, Autosomal Recessive, Spectrin-Associated, 1

  • Spectrin-Associated Autosomal Recessive Cerebellar Ataxia

  • Ataxie Spinocerebelleuse A Debut Infantile Avec Retard Psychomoteur

  • Autosomal Recessive Spinocerebellar Ataxia Type 14

  • Infantile-Onset Spinocerebellar Ataxia-Psychomotor Delay Syndrome

  • Sparca

  • Spectrin-Associated Autosomal Recessive Cerebellar Ataxia Type 1

  • Spinocerebellar Ataxia, Autosomal Recessive, 14

  • Spectrin-Associated Autosomal Recessive Cerebellar Ataxia 1

  • Ataxia, Spinocerebellar, Autosomal Recessive, Type 14

Immunodeficiency 50
  • Combined Immunodeficiency Due To Moesin Deficiency

  • IMD50

  • Immunodeficiency 50, X-Linked Recessive

  • Cid Due To Moesin Deficiency

  • Msn-Related Combined Immunodeficiency

  • X-Linked Moesin-Associated Immunodeficiency

  • Immunodeficiency 50 X Linked Recessive

Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
  • Sepiapterin Reductase Deficiency

  • Spr Deficiency

  • Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency

  • Srd

  • Drd Due To Srd

  • Dopa-Responsive Hypersomnia

  • Dyt-Spr

  • Dyt/Park-Spr

  • Sr-Deficient Drd

  • Autosomal Recessive Sepiapterin Reductase-Deficient Drd

  • Spr

  • DRDSPRD

  • Motor And Cognitive Disorder Due To Sepiapterin Reductase Deficiency

  • Psychomotor Disorders

Blepharospasm
Benign Familial Infantile Epilepsy
  • Benign Familial Infantile Seizures

  • Bfie

  • Benign Familial Infantile Convulsion

  • Bfic

  • Bfis

  • Benign Familial Infantile Convulsions

  • Familial Benign Neonatal Epilepsy

  • Watanabe-Vigevano Syndrome

Cranial Nerve Disease
  • Cranial Nerve Disorder

  • Disorder Of Cranial Nerve

  • Cranial Nerve Diseases

Episodic Ataxia
  • Isaacs Syndrome

  • Neuromyotonia

  • Isaacs' Syndrome

  • Acquired Neuromyotonia

  • Continuous Muscle Fiber Activity Syndrome

  • Quantal Squander Syndrome

  • Isaacs-Mertens Syndrome

  • Ea Syndrome

  • Episodic Ataxia Syndrome

  • Isaac Syndrome

  • Isaac'S-Merten'S Syndrome

  • Isaac-Mertens Syndrome

  • Peripheral Nerve Hyperexcitability

  • Ea

  • Peripheral Nerve Hyperexcitability Syndrome

  • Ataxia, Episodic

  • Isaacs Neuromyotonia

  • Continuous Muscle Fibre Activity

Optic Nerve Disease
  • Optic Neuropathy

  • Disorder Of The Second Nerve

  • Optic Nerve Disorder

  • Optic Nerve

  • Abnormality Of The Optic Nerve

  • Optic Nerve Disorders

  • Neuropathy, Optic

  • Disorder Of The Optic Nerve

Migraine, Familial Hemiplegic, 3
  • FHM3

  • Familial Hemiplegic Migraine 3

  • Mhp3

  • Migraine, Hemiplegic, Familial, Type 3

Choreatic Disease
  • Chorea

  • Hereditary Chorea

Episodic Ataxia, Type 8
  • Episodic Ataxia Type 8

  • EA8

  • Episodic Ataxia With Slurred Speech

Hereditary Ataxia
  • Sca

  • Spinocerebellar Ataxia

  • Ataxias Hereditary

  • Ataxias, Hereditary

Cerebellar Disease
  • Cerebellar Diseases

  • Cerebellar Dysfunction

  • Cerebellar Abnormality

  • Cerebellar Disorders

Inner Ear Disease
  • Labyrinthine Dysfunction

  • Diseases Of Inner Ear

  • Labyrinthine Disease

  • Abnormality Of The Inner Ear

  • Labyrinth Diseases

  • Labyrinthine Disorder

  • Nonfunctioning Labyrinth

  • Labyrinthine Loss Of Function

  • Labyrinthine Syndrome

  • Labyrinthine Disorder Nos

Migraine With Aura
  • Classic Migraine

  • Migraine With Typical Aura

  • Migraine Accompagnée

  • Complicated Migraine

  • Classical Migraine

  • Acute Migraine With Aura

Auditory System Disease
  • Ear Diseases

  • Ear And Mastoid Disease

Leukodystrophy, Hypomyelinating, 6
  • Habc

  • Hypomyelinating Leukodystrophy 6

  • HLD6

  • H-Abc

  • Hypomyelination With Atrophy Of Basal Ganglia And Cerebellum

  • Leukodystrophy, Hypomyelinating, With Atrophy Of The Basal Ganglia And Cerebellum

  • Hypomyelinating Leukodystrophy With Atrophy Of The Basal Ganglia And Cerebellum

  • HLD

  • Leukodystrophy, Hypomyelinating, Type 6

Spastic Diplegia
  • Diplegic Infantile Cerebral Palsy

  • Little'S Disease

  • Cerebral Palsy

  • Cerebral Spastic Infantile Paralysis

  • Infantile Diplegic Cerebral Palsy

  • Infantile Spastic Cerebral Palsy

  • Littles Disease

  • Spastic Cerebral Palsy

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

Polymicrogyria, Bilateral Perisylvian, X-Linked
  • Bilateral Perisylvian Polymicrogyria

  • Polymicrogyria, Bilateral Perisylvian

  • Pmgx

  • Perisylvian Syndrome, Congenital Bilateral

  • Cbps

  • Congenital Bilateral Perisylvian Syndrome

  • Perisylvian Syndrome

  • BPPX

  • Bpp

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

3-Methylglutaconic Aciduria, Type Iii
  • Optic Atrophy

  • 3-Methylglutaconic Aciduria Type 3

  • Costeff Syndrome

  • Mga3

  • Costeff Optic Atrophy Syndrome

  • Optic Atrophy Plus Syndrome

  • Infantile Optic Atrophy With Chorea And Spastic Paraplegia

  • 3-Methylglutaconic Aciduria Type Iii

  • Autosomal Recessive Optic Atrophy Plus Syndrome

  • Autosomal Recessive Optic Atrophy Type 3

  • Opa3 Defect

  • MGCA3

  • Mga, Type Iii

  • Iraqi Jewish Optic Atrophy Plus

  • Mga Type Iii

  • Optic Atrophy, Infantile, With Chorea And Spastic Paraplegia

  • Iraqi-Jewish 'Optic Atrophy Plus'

  • Optic Atrophy 3, Autosomal Recessive

  • Opa3, Autosomal Recessive

  • Opa3-Related 3-Methylglutaconic Aciduria

  • Iraqi-Jewish Optic Atrophy Plus

  • Atrophy Of Optic Disc

  • 3-Alpha Methylglutaconic Aciduria Type Iii

  • Optic Atrophy 3

  • Optic Atrophy Infantile With Chorea And Spastic Paraplegia

  • Autosomal Recessive Opa3

  • Autosomal Recessive Optic Atrophy 3

  • 3-Methylglutaconic Aciduria 3

  • 3-Alpha-Methylglutaconic Aciduria Type 3

  • Optic Atrophy 3 Autosomal Recessive

  • Atrophy, Optic

  • Atrophy, Optic, Plus Syndrome

  • Optic Nerve Atrophy

  • Primary Optic Atrophy

  • Oa - [Optic Atrophy]

  • Second Cranial Nerve Atrophy

  • Second Cranium Nerve Atrophy

Hereditary Spastic Paraplegia
  • Familial Spastic Paraplegia

  • Hereditary Spastic Paraparesis

  • Strumpell-Lorrain Disease

  • Familial Spastic Paraparesis

  • Hsp

  • Spg

  • Strümpell-Lorrain Disease

  • Spastic Paraplegia, Hereditary

  • French Settlement Disease

  • Strumpell-Lorrain Syndrome

  • Fsp

  • Spastic Paraplegia, Familial

  • Spastic Paraplegia Hereditary

  • Spastic Paraplegia 3, Autosomal Dominant

  • Spastic Paraparesis

  • Hereditary Spastic Paralysis

  • Familial Spastic Paralysis

  • Hereditary Spastic Ataxia

Congenital Nervous System Abnormality
  • Congenital Neurologic Anomaly

  • Congenital Nervous System Disorder

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
Bos taurus ATP1A3 VGNC VGNC:26283
Canis familiaris ATP1A3 VGNC VGNC:38246
Mus musculus ATP1A3 MGD MGI:88107
Rattus norvegicus ATP1A3 RGD RGD:2169
Others ATP1A3 NCBI