SLC18A1 solute carrier family 18 member A1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SLC18A1provided by HGNC
Official Full Name: solute carrier family 18 member A1provided by HGNC
Primary source: HGNC:HGNC:10934
See related: Ensembl:ENSG00000036565 MIM:193002; AllianceGenome:HGNC:10934
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CGAT; VAT1; VMAT1
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 been implicated in several human neuropsychiatric disorders. The transporter is a site of action of important drugs, including reserpine and tetrabenazine (Peter et al., 1993 [PubMed 7905859]). See also SLC18A2 (MIM 193001).[supplied by OMIM, Mar 2008]
Expression: Biased expression in adrenal (RPKM 13.1), colon (RPKM 1.0) and 1 other tissue See more
Orthologs: mouse all
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Genomic context

Location:: 8p21.3

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (20144855..20183136, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (20409985..20448250, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (20002366..20040647, complement)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Sclerosing Paragangliomas: Correlations of Histological Features with Patients' Genotype and Vesicular Monoamine Transporter Expression.
Title: Sclerosing Paragangliomas: Correlations of Histological Features with Patients' Genotype and Vesicular Monoamine Transporter Expression.
Finding suggests that monoamine uptake by VMAT1 initially declined in early human evolution (from 130Glu/136Asn to 130Gly/136Thr) but increased along with the emergence of the 130Gly/136Ile variant around the time of the out of Africa dispersal of modern humans.
Title: Human-specific mutations in VMAT1 confer functional changes and multi-directional evolution in the regulation of monoamine circuits.
SV2 was highly expressed in neuroblastoma (NB) and can thus be useful marker in NB diagnostics. VMAT1 and VMAT2 were also expressed in NB but similar to syn less reliable as tumor markers.
Title: Synaptic Vesicle Protein 2 and Vesicular Monoamine Transporter 1 and 2 Are Expressed in Neuroblastoma.
SLC18A1 variants correlated with Anger and Vigor scores, only among males.
Title: Dysmorphic contribution of neurotransmitter and neuroendocrine system polymorphisms to subtherapeutic mood states.
SLC18A1 as one potential pleiotropic gene overlapped between Mood disorders and Cardiometabolic diseases. Genetic variation in SLC18A1 made statistically significant contributions to Body Mass Index.
Title: Dopamine gene methylation patterns are associated with obesity markers and carbohydrate intake.
SLC18A1 might complement other biomarkers currently under study in relation to programmed cell death protein 1/programmed cell death protein ligand 1 inhibition
Title: Expression of the Vesicular Monoamine Transporter Gene Solute Carrier Family 18 Member 1 (SLC18A1) in Lung Cancer.
Polymorphisms within the SLC18A gene are associated with asthenozoospermia through sperm count and motility.
Title: Sperm count and motility are quantitatively affected by functional polymorphisms of HTR2A, MAOA and SLC18A.
Vmat1 polymorphisms are not associated with suicidal behavior.
Title: Association Study of VMAT1 Polymorphisms and Suicide Behavior.
results contribute to the evidence indicating an association between the VMAT1 gene and structural brain alterations in depression.
Title: Vesicular monoamine transporter 1 gene polymorphism and white matter integrity in major depressive disorder.
VMAT1 rs1390938/Thr136Ile is associated with mood, personality, and alcohol use in the general population. Subjects homozygous for the "hyperfunction" allele (AA; Ile/Ile) appear to be more resilient to these disorders.
Title: A Functional Vesicular Monoamine Transporter 1 (VMAT1) Gene Variant Is Associated with Affect and the Prevalence of Anxiety, Affective, and Alcohol Use Disorders in a Longitudinal Population-Representative Birth Cohort Study.

Submit: New GeneRIF Correction See all GeneRIFs (26)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Amerindian-specific regions under positive selection harbour new lipid variants in Latinos. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide scan identifies variation in MLXIPL associated with plasma triglycerides. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel loci for major depression identified by genome-wide association study of Sequenced Treatment Alternatives to Relieve Depression and meta-analysis of three studies. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables monoamine transmembrane transporter activity	TAS Traceable Author Statement more info	PubMed
enables monoamine:proton antiporter activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables serotonin:sodium:chloride symporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables xenobiotic transmembrane transporter activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in aminergic neurotransmitter loading into synaptic vesicle	IBA Inferred from Biological aspect of Ancestor more info
involved_in dopamine uptake	IDA Inferred from Direct Assay more info	PubMed
involved_in monoamine transport	TAS Traceable Author Statement more info	PubMed
involved_in norepinephrine uptake	IDA Inferred from Direct Assay more info	PubMed
involved_in proton transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in serotonin uptake	IDA Inferred from Direct Assay more info	PubMed
involved_in xenobiotic transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in clathrin-sculpted monoamine transport vesicle membrane	TAS Traceable Author Statement more info
located_in endoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info
located_in presynapse	IEA Inferred from Electronic Annotation more info
located_in secretory granule membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in synaptic vesicle membrane	IBA Inferred from Biological aspect of Ancestor more info
is_active_in terminal bouton	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: chromaffin granule amine transporter

Names: solute carrier family 18 (vesicular monoamine transporter), member 1; solute carrier family 18 (vesicular monoamine), member 1; solute carrier family 18 member 1; vesicular amine transporter 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001135691.3 → NP_001129163.1 chromaffin granule amine transporter isoform a

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript, and encodes the longest protein (isoform a). Variants 1 and 2 both encode the same protein.

Source sequence(s)

AC025853, BC006317, BC009387, U39905

Consensus CDS

CCDS6013.1

UniProtKB/Swiss-Prot

E9PDJ5, P54219, Q9BRE4

UniProtKB/TrEMBL

B2R9B6

Related

ENSP00000387549.1, ENST00000440926.3

Conserved Domains (3) summary

cd06174
Location:302 → 479

MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...

TIGR00880
Location:140 → 281

2_A_01_02; Multidrug resistance protein

pfam07690
Location:139 → 445

MFS_1; Major Facilitator Superfamily
NM_001142324.2 → NP_001135796.1 chromaffin granule amine transporter isoform b

Status: VALIDATED

Description

Transcript Variant: This variant (3) lacks an alternate in-frame exon in the central coding region, compared to variant 1. The resulting isoform (b) has the same N- and C-termini but lacks an internal segment, compared to isoform a.

Source sequence(s)

AC025853, BC006317, BC009387, U39905

Consensus CDS

CCDS47814.1

UniProtKB/TrEMBL

B2R9B6

Related

ENSP00000265808.7, ENST00000265808.11

Conserved Domains (3) summary

cd06174
Location:305 → 447

MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...

TIGR00880
Location:140 → 281

2_A_01_02; Multidrug resistance protein

pfam07690
Location:139 → 413

MFS_1; Major Facilitator Superfamily
NM_001142325.2 → NP_001135797.1 chromaffin granule amine transporter isoform c

Status: VALIDATED

Description

Transcript Variant: This variant (4), also known as VMAT1delta15, lacks an alternate exon in the 3' coding region resulting in a frameshift, compared to variant 1. The resulting isoform (c) has a shorter and distinct C-terminus, compared to isoform a.

Source sequence(s)

AC025853, BC006317, BC009387, U39905

Consensus CDS

CCDS47815.1

UniProtKB/TrEMBL

Q96GL6

Related

ENSP00000413361.1, ENST00000437980.3

Conserved Domains (3) summary

cd06174
Location:302 → 445

MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...

TIGR00880
Location:140 → 281

2_A_01_02; Multidrug resistance protein

pfam07690
Location:139 → 444

MFS_1; Major Facilitator Superfamily
NM_003053.4 → NP_003044.1 chromaffin granule amine transporter isoform a

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same protein (isoform a).

Source sequence(s)

AC025853, BC006317, BC009387, U39905

Consensus CDS

CCDS6013.1

UniProtKB/Swiss-Prot

E9PDJ5, P54219, Q9BRE4

UniProtKB/TrEMBL

B2R9B6

Related

ENSP00000276373.5, ENST00000276373.10

Conserved Domains (3) summary

cd06174
Location:302 → 479

MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...

TIGR00880
Location:140 → 281

2_A_01_02; Multidrug resistance protein

pfam07690
Location:139 → 445

MFS_1; Major Facilitator Superfamily

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000008.11 Reference GRCh38.p14 Primary Assembly

Range

20144855..20183136 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047422119.1 → XP_047278075.1 chromaffin granule amine transporter isoform X3

UniProtKB/TrEMBL

B2R9B6
XM_011544625.2 → XP_011542927.1 chromaffin granule amine transporter isoform X1

UniProtKB/TrEMBL

B2R9B6

Conserved Domains (2) summary

cd06174
Location:139 → 451

MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...

pfam07690
Location:139 → 417

MFS_1; Major Facilitator Superfamily
XM_011544626.2 → XP_011542928.1 chromaffin granule amine transporter isoform X2

UniProtKB/TrEMBL

B2R9B6

Related

ENSP00000429664.1, ENST00000519026.5

Conserved Domains (3) summary

cd06174
Location:305 → 447

MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...

TIGR00880
Location:140 → 281

2_A_01_02; Multidrug resistance protein

pfam07690
Location:139 → 413

MFS_1; Major Facilitator Superfamily

Alternate T2T-CHM13v2.0

Genomic

NC_060932.1 Alternate T2T-CHM13v2.0

Range

20409985..20448250 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054361043.1 → XP_054217018.1 chromaffin granule amine transporter isoform X3

UniProtKB/TrEMBL

B2R9B6
XM_054361041.1 → XP_054217016.1 chromaffin granule amine transporter isoform X1

UniProtKB/TrEMBL

B2R9B6
XM_054361042.1 → XP_054217017.1 chromaffin granule amine transporter isoform X2

UniProtKB/TrEMBL

B2R9B6