SLC18A1 (solute carrier family 18 member A1)

Gene

• Entrez ID: 6570
• Gene name: Solute carrier family 18 member A1
• Gene symbol: SLC18A1
• Synonyms (NCBI Gene): CGAT, VAT1, VMAT1
• Chromosome: 8
• Chromosome location: 8p21.3
• Summary: The vesicular monoamine transporter acts to accumulate cytosolic monoamines into vesicles, using the proton gradient maintained across the vesicular membrane. Its proper function is essential to the correct activity of the monoaminergic systems that have

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT2104638	hsa-miR-4778-3p	CLIP-seq
MIRT2329112	hsa-miR-3153	CLIP-seq
MIRT2329113	hsa-miR-4505	CLIP-seq
MIRT2329114	hsa-miR-4638-5p	CLIP-seq
MIRT2329115	hsa-miR-4646-5p	CLIP-seq
MIRT2329116	hsa-miR-4668-5p	CLIP-seq
MIRT2329117	hsa-miR-513c	CLIP-seq
MIRT2329118	hsa-miR-514b-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005335	Function	Serotonin:sodium:chloride symporter activity	IBA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	16326835
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0006836	Process	Neurotransmitter transport	IEA
GO:0006837	Process	Serotonin transport	IEA
GO:0008504	Function	Monoamine transmembrane transporter activity	TAS	8643547
GO:0015311	Function	Monoamine:proton antiporter activity	IDA	8643547, 16326835, 23337945
GO:0015311	Function	Monoamine:proton antiporter activity	IEA
GO:0015842	Process	Aminergic neurotransmitter loading into synaptic vesicle	IBA
GO:0015844	Process	Monoamine transport	TAS	8643547
GO:0015872	Process	Dopamine transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0022857	Function	Transmembrane transporter activity	IEA
GO:0030658	Component	Transport vesicle membrane	IEA
GO:0030667	Component	Secretory granule membrane	IDA	16326835
GO:0030672	Component	Synaptic vesicle membrane	IBA
GO:0030672	Component	Synaptic vesicle membrane	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0042908	Process	Xenobiotic transport	IEA
GO:0042910	Function	Xenobiotic transmembrane transporter activity	IEA
GO:0043195	Component	Terminal bouton	IBA
GO:0045202	Component	Synapse	IEA
GO:0045202	Component	Synapse	IEA
GO:0051610	Process	Serotonin uptake	IDA	8643547, 16326835, 23337945
GO:0051610	Process	Serotonin uptake	IEA
GO:0051620	Process	Norepinephrine uptake	IDA	23337945
GO:0051649	Process	Establishment of localization in cell	IEA
GO:0055085	Process	Transmembrane transport	IEA
GO:0070083	Component	Clathrin-sculpted monoamine transport vesicle membrane	IEA
GO:0070083	Component	Clathrin-sculpted monoamine transport vesicle membrane	TAS
GO:0090494	Process	Dopamine uptake	IDA	23337945
GO:0098793	Component	Presynapse	IEA
GO:1902600	Process	Proton transmembrane transport	IEA

Other IDs

• MIM: 193002
• HGNC: 10934
• e!Ensembl: ENSG00000036565

Protein

• UniProt ID: P54219
• Protein name: Chromaffin granule amine transporter (Solute carrier family 18 member 1) (Vesicular amine transporter 1) (VAT1)
• Protein function: [Isoform 1]: Electrogenic antiporter that exchanges one cationic monoamine with two intravesicular protons across the membrane of secretory and synaptic vesicles. Uses the electrochemical proton gradient established by the V-type proton-pump ATP
• PDB: 8TGG, 8TGH, 8TGI, 8TGJ, 8TGK, 8TGL, 8TGM, 8TGN
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07690	MFS_1	96 → 433	Major Facilitator Superfamily	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed primarily in neuroendocrine tissues. Highly expressed in chromaffin cells of the adrenal medulla (at protein level). Detected in peripheral sympathetic ganglia (at protein level). Found in some paracrine cells in stomach and
• Sequence:

  MLRTILDAPQRLLKEGRASRQLVLVVVFVALLLDNMLFTVVVPIVPTFLYDMEFKEVNSS
  LHLGHAGSSPHALASPAFSTIFSFFNNNTVAVEESVPSGIAWMNDTASTIPPPATEAISA
  HKNNCLQGTGFLEEEITRVGVLFASKAVMQLLVNPFVGPLTNRIGYHIPMFAGFVIMFLS
  TVMFAFSGTYTLLFVARTLQGIGSSFSSVAGLGMLASVYTDDHERGRAMGTALGGLALGL
  LVGAPFGSVMYEFVGKSAPFLILAFLALLDGALQLCILQPSKVSPESAKGTPLFMLLKDP
  YILVAAGSICFANMGVAILEPTLPIWMMQTMCSPKWQLGLAFLPASVSYLIGTNLFGVLA
  NKMGRWLCSLIGMLVVGTSLLCVPLAHNIFGLIGPNAGLGLAIGMVDSSMMPIMGHLVDL
  RHTSVYGSVYAIADVAFCMGFAIGPSTGGAIVKAIGFPWLMVITGVINIVYAPLCYYLRS
  PPAKEEKLAILSQDCPMETRMYATQKPTKEFPLGEDSDEEPDHEE

• Sequence length: 525

Pathways

KEGG:

Synaptic vesicle cycle
Serotonergic synapse
Dopaminergic synapse
Parkinson disease
Cocaine addiction
Amphetamine addiction
Alcoholism

Reactome:

Na+/Cl- dependent neurotransmitter transporters

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AMYOTROPHIC LATERAL SCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR I DISORDER, MOST RECENT EPISODE MANIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSION, BIPOLAR	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSIVE DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL DEPRESSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIXED BIPOLAR I DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma	Adenocarcinoma	BEFREE	30194079		★☆☆☆☆ Found in Text Mining only
Anorexia Nervosa	Anorexia	BEFREE	30554102		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety disorder	Pubtator	26861143	Associate	★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety disorder	Pubtator	26861143	Associate	★☆☆☆☆ Found in Text Mining only
Asthenozoospermia	Asthenozoospermia	BEFREE	29602729		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	28476685		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	18203167, 28476685, 30194079		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	30194079	Associate	★☆☆☆☆ Found in Text Mining only
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	21394740		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	16936705		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	LHGDN	16936705		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	16936705, 18249496, 19204725, 20419435		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar disorder	Pubtator	16936705, 26861143, 30194079	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Borderline Personality Disorder	Borderline personality disorder	BEFREE	16936705		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	9581869		★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary Dysplasia	BEFREE	16936705		★☆☆☆☆ Found in Text Mining only
Carcinoid Tumor	Carcinoid tumor	Pubtator	17717663	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoid Tumor	Carcinoid tumor	Pubtator	18708724	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	30194079		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	28968818		★☆☆☆☆ Found in Text Mining only
Complement component 5 deficiency	Complement component deficiency	Pubtator	30194079	Associate	★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	19204725, 28408293		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive disorder	Mental Depression	PSYGENET_DG	19204725		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive Disorder	Major depressive disorder	Pubtator	26861143	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Disruptive Impulse Control and Conduct Disorders	Disruptive, impulse control, and conduct disorders	Pubtator	26861143	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	19508442		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	19508442		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	19508442		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	18203167		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	30194079	Associate	★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	28408293		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	9581869		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	30194079		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	19204725, 30194079		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	19204725, 28408293		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Depression	Mental Depression	PSYGENET_DG	19204725		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental disorders	Mental Disorders	BEFREE	28476685		★☆☆☆☆ Found in Text Mining only
Multiple Endocrine Neoplasia Type 2a	Multiple Endocrine Neoplasia	LHGDN	16189177		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11159212, 11280778, 20371665, 21335363, 23184910, 25120831, 28968818, 30194079		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	19212675		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	26338179, 37541765	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	19204725		★☆☆☆☆ Found in Text Mining only
Obsessive-Compulsive Disorder	Obsessive-Compulsive Disorder	BEFREE	30554102		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	29170526	Associate	★☆☆☆☆ Found in Text Mining only
Paraganglioma	Paraganglioma	Pubtator	35524772	Associate	★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	Pubtator	35524772	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	16936705, 18249496, 18451639, 19204725, 20419435, 30194079, 30685272		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	16936705, 30194079	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	LHGDN	18451639		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	18451639		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Von Hippel-Lindau Syndrome	Von Hippel-Lindau Syndrome	LHGDN	16189177		★☆☆☆☆ Found in Text Mining only