SLC6A1 - solute carrier family 6 member 1 Gene

Also Known as MAE; GAT1; GABATR; hGAT-1; GABATHG

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 6529

About SLC6A1

Cytogenetic location: 3p25.3 Genomic coordinates (GRCh38): 3:10,992,748-11,039,247 (from NCBI)

This gene has 42 transcripts (splice variants), 281 orthologues, 19 paralogues and is associated with 3 phenotypes. Biased expression in brain (RPKM 26.6), liver (RPKM 15.1) and 2 other tissues.

Summary

The protein encoded by this gene is a gamma-aminobutyric acid (GABA) transporter that localizes to the plasma membrane. The encoded protein removes GABA from the synaptic cleft, restoring it to presynaptic terminals. [provided by RefSeq, Jan 2017]

SLC6A1 Products (5)

mRNA	Protein	Name
NM_001348250.2	NP_001335179.1	sodium- and chloride-dependent GABA transporter 1 isoform a
NM_001348251.2	NP_001335180.1	sodium- and chloride-dependent GABA transporter 1 isoform b
NM_001348252.2	NP_001335181.1	sodium- and chloride-dependent GABA transporter 1 isoform c
NM_001348253.2	NP_001335182.1	sodium- and chloride-dependent GABA transporter 1 isoform c
NM_003042.4	NP_003033.3	sodium- and chloride-dependent GABA transporter 1 isoform a

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables gamma-aminobutyric acid:sodium:chloride symporter activity	IDA IDA: Inferred from direct assay	10973981	GOA
enables gamma-aminobutyric acid:sodium:chloride symporter activity	IMP IMP: Inferred from mutant phenotype	30132828	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA
enables sodium:chloride symporter activity	IDA IDA: Inferred from direct assay	10973981	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in chloride transmembrane transport	IDA IDA: Inferred from direct assay	10973981	GOA
involved in gamma-aminobutyric acid import	IDA IDA: Inferred from direct assay	10973981	GOA
involved in inorganic anion import across plasma membrane	IDA IDA: Inferred from direct assay	10973981	GOA
involved in sodium ion import across plasma membrane	IDA IDA: Inferred from direct assay	10973981	GOA

Cellular Component GO Annotation	Evidence	References	Source
is active in plasma membrane	IDA IDA: Inferred from direct assay	10973981	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

SLC6A1 Protein Structure

SNF

0
100
200
300
400
500
599 a.a.

Protein Preferred Names	Protein Names
sodium- and chloride-dependent GABA transporter 1	GABA transporter 1

SLC6A1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	SLC6A1	P30531	HSF2BP	Homo sapiens	O75031	Y2H Prey Pooling	32296183
Intra	SLC6A1	P30531	HSF2BP	Homo sapiens	O75031	Y2H Array	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

SLC6A1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P82050	GABA Transporter 1 Antibody (YA1795)	WB	Human, Mouse, Rat
HY-P82996	GABA Transporter 1 Antibody (YA2741)	WB, IP	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Myoclonic-Atonic Epilepsy	MAE Epilepsy, Myoclonic-Atonic
Epilepsy With Myoclonic-Atonic Seizures	Myoclonic Astatic Epilepsy Doose Syndrome Epilepsy With Myoclonic-Astatic Seizures Epilepsy With Myoclono-Astatic Crisis Myoclonic-Astatic Epilepsy Emas Mae Myoclonic Atonic Epilepsy Myoclonic-Astatic Epilepsy In Early Childhood
Benign Epilepsy With Centrotemporal Spikes	Rolandic Epilepsy Benign Rolandic Epilepsy Epilepsy, Rolandic Bcects Benign Childhood Epilepsy With Centrotemporal Spike Sylvan Seizures Becrs Bects Bre Benign Epilepsy Of Childhood With Centrotemporal Spikes Benign Familial Epilepsy Of Childhood With Rolandic Spikes Centrotemporal Epilepsy
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
Developmental And Epileptic Encephalopathy 54	DEE54 Epileptic Encephalopathy, Early Infantile, 54 Eiee54 Developmental And Epileptic Encephalopathy, 54 Early Infantile Epileptic Encephalopathy 54 Encephalopathy, Epileptic, Early Infantile, Type 54
Childhood Electroclinical Syndrome
Attention Deficit-Hyperactivity Disorder	Attention Deficit Hyperactivity Disorder ADHD Attention Deficit Disorder Attention Deficit-Hyperactivity Disorder, Susceptibility To Attention Deficit Disorder With Hyperactivity Hyperkinetic Disorder Hyperactivity Of Childhood Attention-Deficit/Hyperactivity Disorder Add Addh Attention Deficit Attention Deficit Disorder Of Childhood With Hyperactivity Attention Deficit Disorder With Hyperactivity Syndrome Hyperkinetic Syndrome Attention-Deficit Hyperactivity Disorder Attention-Deficit/Hyperactivity Disorder, Predominantly Inattentive Type Disturbance Of Activity And Attention Disorder Of Activity And Attention Adhd - [Attention Deficit Hyperactivity Disorder] Hyperkinetic Disorders Disorder Of Activity And Attention With Hyperkinesia Attention Deficit Syndrome With Hyperactivity
Cerebral Creatine Deficiency Syndrome 1	Creatine Transporter Deficiency Creatine Transporter Defect Slc6a8 Deficiency X-Linked Creatine Deficiency Syndrome CCDS1 Creatine Deficiency Syndrome, X-Linked X-Linked Creatine Deficiency Creatine Deficiency, X-Linked X-Linked Creatine Transporter Deficiency Mental Retardation, X-Linked, With Seizures, Short Stature, And Midface Hypoplasia Mental Retardation, X-Linked, With Creatine Transport Deficiency Intellectual Disability, X-Linked With Seizures, Short Stature And Midface Hypoplasia Intellectual Disability, X-Linked, With Creatine Transport Deficiency Slc6a8-Related Creatine Transporter Deficiency Deficiency, Cerebral Creatine, Syndrome, Type 1
Fragile X Syndrome	FXS Martin-Bell Syndrome Fraxa Syndrome Marker X Syndrome X-Linked Mental Retardation And Macroorchidism Fragile X Mental Retardation Syndrome Fra Syndrome Mental Retardation, X-Linked, Associated With Marxq28 X-Linked Intellectual Disability And Macroorchidism Frax Syndrome Symptomatic Form Of Fragile X Syndrome In Female Carriers Fragile-X Syndrome Fraxe Syndrome
Schizophrenia	SCZD Schizophrenia With Or Without An Affective Disorder Schizophrenia 12 Schizophrenia, Susceptibility To Schizophrenia-1 Dementia Praecox Schizophrenia 1
Early Onset Absence Epilepsy
Childhood Absence Epilepsy	Pyknolepsy Petit Mal Epilepsy Absence Seizures Absence Seizure Petit Mal Seizure Absence Epilepsy, Childhood Pykno-Epilepsy Epilepsy, Absence Absence Epilepsy Pycnolepsy
Anxiety	Anxiety Disorder Anxiety Disorders Anxiety State Anxieties Anxiety Neurosis
Autism Spectrum Disorder	Asd Autism Spectrum Disorders Autistic Continuum Pervasive Developmental Disorder Pervasive Development Disorder Autistic Behavior Autistic Disorder Autistic Autistic Disorder Of Childhood Onset Infantile Autism Childhood Autism Kanner Syndrome Pervasive Developmental Delay Nos Pervasive Developmental Disorder, Not Otherwise Specified
Christianson Syndrome	X-Linked Angelman-Like Syndrome X-Linked Intellectual Disability, South African Type X-Linked Intellectual Disability-Craniofacial Dysmorphism-Epilepsy-Ophthalmoplegia-Cerebellar Atrophy Syndrome Mental Retardation, Microcephaly, Epilepsy, And Ataxia Syndrome Mental Retardation, X-Linked Syndromic, Christianson Type Mrxsch Angelman-Like Syndrome X-Linked Intellectual Disability Microcephaly Epilepsy And Ataxia Syndrome Intellectual Disability X-Linked Syndromic Christianson Type Mrxs Christianson X-Linked Intellectual Disability - Craniofacial Dysmorphism - Epilepsy - Ophthalmoplegia - Cerebellar Atrophy Angelman-Like Syndrome, X-Linked Intellectual Deficit, X-Linked, South African Type Mental Retardation X-Linked, South African Type Mental Retardation, X-Linked, Syndromic, Christianson Type
Pitt-Hopkins Syndrome	PTHS Encephalopathy, Severe Epileptic, With Autonomic Dysfunction Mental Retardation, Syndromal, With Intermittent Hyperventilation Intellectual Disability, Wide Mouth, Distinctive Facial Features, And Intermittent Hyperventilation Followed By Apnea Pitt Hopkins Syndrome Phs Encephalopathy Severe Epileptic With Autonomic Dysfunction
Lennox-Gastaut Syndrome	Lennox Syndrome Encephalopathy Of Childhood Epileptic Encephalopathy Lennox-Gastaut Type Childhood Epileptic Encephalopathy With Diffuse Slow Spikes And Waves Lgs
Hyperekplexia	Hereditary Hyperekplexia Kok Disease Congenital Stiff Man Syndrome Familial Startle Disease Sthe Stiff-Baby Syndrome Hereditary Hyperexplexia Startle Disease Exaggerated Startle Reaction Hyperexplexia Hereditary Startle Disease, Familial Startle Reaction, Exaggerated Stiff-Man Syndrome, Congenital Stiff-Person Syndrome, Congenital Congenital Stiff-Man Syndrome Congenital Stiff-Person Syndrome Familial Hyperekplexia Startle Syndrome Stiff Baby Syndrome Hyperekplexia, Hereditary Stiff-Person Syndrome
Dystonia	Dystonic Disease Dystonic Disorder Dystonia Disorders Neuroleptic Dyskinesia
Autism	Autistic Disorder Autism Susceptibility 1 Childhood Autism Autistic Disorder Of Childhood Onset Infantile Autism Kanner'S Syndrome Autistic
Early Myoclonic Encephalopathy	Myoclonic Epilepsy Myoclonic Seizure Epilepsies, Myoclonic Epileptic Seizures - Myoclonic Epileptic Seizures, Myoclonic Myoclonia Epileptica Myoclonic Seizure Disorder Early Myoclonic Encephalopathy With Suppression-Bursts
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
Psychotic Disorder	Psychotic Disorders Mental Or Behavioural Disorder Psychotic Mental Disorders
Coffin-Siris Syndrome 1	Coffin-Siris Syndrome Fifth Digit Syndrome Css CSS1 Mrd12 Mental Retardation, Autosomal Dominant 12 Hhid Dwarfism-Onychodysplasia Hypertrichosis, Hyperkeratosis, Mental Retardation, And Distinctive Facial Features Autosomal Dominant Mental Retardation 12 Short Stature-Onychodysplasia. Intellectual Disability With Absent Fifth Fingernail And Terminal Phalanx Mental Retardation With Hypoplastic Fifth Fingernails And Toenails Short Stature-Onychodysplasia Coffin-Siris Syndrome, Type 1 Mental Retardation, Autosomal Dominant, Type 12
Epilepsy, Myoclonic Juvenile	Juvenile Myoclonic Epilepsy Janz Syndrome Jme Myoclonic Epilepsy, Juvenile, Susceptibility To, 1 EJM Myoclonic Epilepsy, Juvenile Petit Mal, Impulsive Myoclonic Epilepsy, Juvenile 1 Myoclonic Epilepsy, Juvenile, 1 Adolescent Myoclonic Epilepsy Juvenile Myoclonus Epilepsy Juvenile Myoclonic Epilepsy 1 EJM1 Petit Mal Impulsive Susceptibility To Juvenile Myoclonic Epilepsy 1 Myoclonic Epilepsy Juvenile Epilepsy, Myoclonic, Juvenile Myoclonic Epilepsy Of Janz Jme - [Juvenile Myoclonic Epilepsy]
Epilepsy, Idiopathic Generalized	Idiopathic Generalized Epilepsy Generalised Epilepsy Epilepsy, Generalized EIG Ige Epilepsy, Idiopathic Generalized, Susceptibility To, 1 Epilepsy, Idiopathic Generalized 1 Epilepsy, Idiopathic Generalized, Susceptibility To Epilepsy, Idiopathic, Generalized Epilepsy, Idiopathic, Generalized, Susceptibility To, Type 1
West Syndrome	Infantile Spasms Infantile Spasms Syndrome Infantile Spasm X-Linked Infantile Spasm Syndrome X-Linked Infantile Spasms Epileptic Encephalopathy, Early Infantile, 1 Is Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg West'S Syndrome Spasms, Infantile Is -[Infantile Spasm] Salaam Spasm Salaam Tic
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
Parkinson Disease, Late-Onset	Parkinson Disease Parkinson'S Disease PD PARK Parkinson Disease, Susceptibility To Late Onset Parkinson'S Disease Late Onset Parkinson Disease Paralysis Agitans Primary Parkinsonism Idiopathic Parkinson Disease Parkinson'S Parkinson Disease, Late-Onset, Susceptibility To Parkinson Disease, Age Of Onset, Modifier Lewy Body Parkinson Disease Idiopathic Parkinson'S Disease Pd - [Parkinson Disease] Parkinson Disease Nos Parkinson, Nos Primary Parkinson Disease

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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13296	SLC6A1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21939	Slc6a1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28456	Slc6a1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	SLC6A1	VGNC	VGNC:65408
Canis familiaris	SLC6A1	VGNC	VGNC:46453
Macaca mulatta	SLC6A1	VGNC	VGNC:77615
Rattus norvegicus	SLC6A1	RGD	RGD:620533
Mus musculus	SLC6A1	MGD	MGI:95627
Bos taurus	SLC6A1	VGNC	VGNC:34913
Others	SLC6A1	NCBI