Details for: SLC18A3

Gene ID: 6572

Symbol: SLC18A3

Ensembl ID: ENSG00000187714

Description: solute carrier family 18 member A3

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 4.6819
    Cell Significance Index: 117.0400
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 4.4629
    Cell Significance Index: 128.5900
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 3.0666
    Cell Significance Index: 41.8400
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 2.2866
    Cell Significance Index: 32.5500
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 1.8592
    Cell Significance Index: 40.7100
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 1.6958
    Cell Significance Index: 36.7400
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 1.6162
    Cell Significance Index: 73.2600
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 1.1281
    Cell Significance Index: 214.6900
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.7739
    Cell Significance Index: 76.5600
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: 0.7548
    Cell Significance Index: 11.3800
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.7543
    Cell Significance Index: 24.1600
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.7136
    Cell Significance Index: 644.3700
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.3836
    Cell Significance Index: 62.3800
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.2516
    Cell Significance Index: 27.3700
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.2087
    Cell Significance Index: 14.4400
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: 0.0817
    Cell Significance Index: 1.1700
  • Cell Name: thymocyte (CL0000893)
    Fold Change: 0.0600
    Cell Significance Index: 0.7600
  • Cell Name: caudal ganglionic eminence derived cortical interneuron (CL4023064)
    Fold Change: 0.0436
    Cell Significance Index: 0.8700
  • Cell Name: embryonic fibroblast (CL2000042)
    Fold Change: 0.0345
    Cell Significance Index: 0.1700
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.0163
    Cell Significance Index: 1.6600
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.0141
    Cell Significance Index: 0.7400
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.0129
    Cell Significance Index: 0.2800
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: 0.0054
    Cell Significance Index: 0.0700
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: -0.0018
    Cell Significance Index: -1.2200
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0040
    Cell Significance Index: -0.1400
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0055
    Cell Significance Index: -4.0700
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0062
    Cell Significance Index: -1.2400
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0063
    Cell Significance Index: -3.5500
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: -0.0082
    Cell Significance Index: -0.4900
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0092
    Cell Significance Index: -1.9300
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.0096
    Cell Significance Index: -0.5900
  • Cell Name: peripheral nervous system neuron (CL2000032)
    Fold Change: -0.0097
    Cell Significance Index: -0.0800
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0101
    Cell Significance Index: -5.5300
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: -0.0180
    Cell Significance Index: -0.2500
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0258
    Cell Significance Index: -7.4300
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: -0.0287
    Cell Significance Index: -0.3400
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0311
    Cell Significance Index: -3.5600
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: -0.0380
    Cell Significance Index: -0.4600
  • Cell Name: basal cell (CL0000646)
    Fold Change: -0.0412
    Cell Significance Index: -0.4900
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0432
    Cell Significance Index: -5.9300
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0566
    Cell Significance Index: -1.5100
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.0567
    Cell Significance Index: -1.1900
  • Cell Name: erythroid progenitor cell (CL0000038)
    Fold Change: -0.0607
    Cell Significance Index: -0.7900
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.0608
    Cell Significance Index: -1.2200
  • Cell Name: foveolar cell of stomach (CL0002179)
    Fold Change: -0.0614
    Cell Significance Index: -0.4000
  • Cell Name: hematopoietic multipotent progenitor cell (CL0000837)
    Fold Change: -0.0719
    Cell Significance Index: -0.8700
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: -0.0743
    Cell Significance Index: -0.9600
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: -0.0799
    Cell Significance Index: -1.0100
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: -0.0825
    Cell Significance Index: -2.0600
  • Cell Name: pro-B cell (CL0000826)
    Fold Change: -0.0851
    Cell Significance Index: -0.9200
  • Cell Name: myelocyte (CL0002193)
    Fold Change: -0.0890
    Cell Significance Index: -0.9500
  • Cell Name: tendon cell (CL0000388)
    Fold Change: -0.0927
    Cell Significance Index: -1.2600
  • Cell Name: naive thymus-derived CD8-positive, alpha-beta T cell (CL0000900)
    Fold Change: -0.0978
    Cell Significance Index: -0.9900
  • Cell Name: immature B cell (CL0000816)
    Fold Change: -0.0996
    Cell Significance Index: -0.9400
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: -0.1082
    Cell Significance Index: -1.1800
  • Cell Name: common dendritic progenitor (CL0001029)
    Fold Change: -0.1084
    Cell Significance Index: -1.1300
  • Cell Name: CD8-positive, alpha-beta memory T cell (CL0000909)
    Fold Change: -0.1101
    Cell Significance Index: -1.1200
  • Cell Name: CD4-positive, alpha-beta memory T cell (CL0000897)
    Fold Change: -0.1151
    Cell Significance Index: -1.1100
  • Cell Name: osteoblast (CL0000062)
    Fold Change: -0.1165
    Cell Significance Index: -1.1300
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: -0.1170
    Cell Significance Index: -1.5000
  • Cell Name: CD16-positive, CD56-dim natural killer cell, human (CL0000939)
    Fold Change: -0.1226
    Cell Significance Index: -1.0900
  • Cell Name: monocyte (CL0000576)
    Fold Change: -0.1304
    Cell Significance Index: -1.5000
  • Cell Name: nasal mucosa goblet cell (CL0002480)
    Fold Change: -0.1313
    Cell Significance Index: -1.3400
  • Cell Name: uterine smooth muscle cell (CL0002601)
    Fold Change: -0.1347
    Cell Significance Index: -1.2900
  • Cell Name: megakaryocyte progenitor cell (CL0000553)
    Fold Change: -0.1347
    Cell Significance Index: -0.9700
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.1353
    Cell Significance Index: -4.7000
  • Cell Name: epithelial cell (CL0000066)
    Fold Change: -0.1394
    Cell Significance Index: -1.4700
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: -0.1427
    Cell Significance Index: -1.3700
  • Cell Name: conventional dendritic cell (CL0000990)
    Fold Change: -0.1472
    Cell Significance Index: -1.7400
  • Cell Name: neuroblast (sensu Nematoda and Protostomia) (CL0000338)
    Fold Change: -0.1551
    Cell Significance Index: -1.4100
  • Cell Name: innate lymphoid cell (CL0001065)
    Fold Change: -0.1584
    Cell Significance Index: -2.0400
  • Cell Name: mononuclear phagocyte (CL0000113)
    Fold Change: -0.1585
    Cell Significance Index: -1.3400
  • Cell Name: basal cell of epidermis (CL0002187)
    Fold Change: -0.1587
    Cell Significance Index: -2.4100
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.1630
    Cell Significance Index: -4.8000
  • Cell Name: double-positive, alpha-beta thymocyte (CL0000809)
    Fold Change: -0.1642
    Cell Significance Index: -1.7700
  • Cell Name: hepatic stellate cell (CL0000632)
    Fold Change: -0.1648
    Cell Significance Index: -1.7000
  • Cell Name: early promyelocyte (CL0002154)
    Fold Change: -0.1678
    Cell Significance Index: -1.0700
  • Cell Name: late promyelocyte (CL0002151)
    Fold Change: -0.1681
    Cell Significance Index: -1.1100
  • Cell Name: melanocyte of skin (CL1000458)
    Fold Change: -0.1698
    Cell Significance Index: -2.3800
  • Cell Name: double negative thymocyte (CL0002489)
    Fold Change: -0.1718
    Cell Significance Index: -2.0400
  • Cell Name: medullary thymic epithelial cell (CL0002365)
    Fold Change: -0.1723
    Cell Significance Index: -1.8900
  • Cell Name: cone retinal bipolar cell (CL0000752)
    Fold Change: -0.1731
    Cell Significance Index: -1.3300
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.1734
    Cell Significance Index: -1.8000
  • Cell Name: mature NK T cell (CL0000814)
    Fold Change: -0.1788
    Cell Significance Index: -2.0200
  • Cell Name: neuron associated cell (sensu Vertebrata) (CL0000123)
    Fold Change: -0.1802
    Cell Significance Index: -2.0000
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: -0.1838
    Cell Significance Index: -1.2200
  • Cell Name: CD8-alpha-alpha-positive, alpha-beta intraepithelial T cell (CL0000915)
    Fold Change: -0.1861
    Cell Significance Index: -1.6000
  • Cell Name: CD8-positive, alpha-beta memory T cell, CD45RO-positive (CL0001203)
    Fold Change: -0.1938
    Cell Significance Index: -2.0100
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: -0.2128
    Cell Significance Index: -1.7600
  • Cell Name: neuron (CL0000540)
    Fold Change: -0.2173
    Cell Significance Index: -2.0600
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.2183
    Cell Significance Index: -5.8500
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: -0.2205
    Cell Significance Index: -3.7700
  • Cell Name: granule cell (CL0000120)
    Fold Change: -0.2288
    Cell Significance Index: -2.6100
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.2316
    Cell Significance Index: -6.0900
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: -0.2324
    Cell Significance Index: -5.9200
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.2345
    Cell Significance Index: -13.1600
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.2348
    Cell Significance Index: -3.9300
  • Cell Name: secretory cell (CL0000151)
    Fold Change: -0.2394
    Cell Significance Index: -1.6600
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: -0.2420
    Cell Significance Index: -3.9200
  • Cell Name: chondrocyte (CL0000138)
    Fold Change: -0.2735
    Cell Significance Index: -3.1500

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** SLC18A3 is a member of the solute carrier family 18, which is a group of proteins involved in the transport of various ions and molecules across cell membranes. The VACHT protein, encoded by SLC18A3, is specifically localized to the synaptic vesicle membrane and has been shown to play a crucial role in the regulation of neurotransmitter release. The protein exhibits antiporter activity, allowing it to transport acetylcholine out of the neuron and into the synaptic cleft. **Pathways and Functions:** SLC18A3 is involved in several key pathways, including: 1. **Acetylcholine release cycle**: SLC18A3 plays a critical role in the regulation of acetylcholine release from synaptic vesicles. 2. **Clathrin-mediated endocytosis**: The protein is involved in the recognition and internalization of cargo molecules, including neurotransmitters, through clathrin-coated vesicles. 3. **Neurotransmitter transport**: SLC18A3 is responsible for the transport of acetylcholine across neuronal membranes, regulating neurotransmission and synaptic plasticity. 4. **Synaptic plasticity**: The protein has been shown to play a role in the regulation of long-term synaptic potentiation, a process essential for learning and memory. **Clinical Significance:** The dysregulation of SLC18A3 has been implicated in various neurological and psychiatric disorders, including: 1. **Alzheimer's disease**: Studies have shown that SLC18A3 is downregulated in Alzheimer's disease, leading to impaired acetylcholine release and neurotransmission. 2. **Parkinson's disease**: The protein has been shown to be reduced in Parkinson's disease, contributing to the disruption of neurotransmission and motor function. 3. **Neuromuscular junction disorders**: SLC18A3 has been implicated in the regulation of neuromuscular junction development and function, making it a potential target for the treatment of disorders such as myasthenia gravis. In conclusion, SLC18A3 is a critical gene involved in the regulation of neurotransmission, synaptic plasticity, and the development of neuromuscular junctions. Further research is needed to fully elucidate the functions of SLC18A3 and its role in various neurological and psychiatric disorders.

Genular Protein ID: 1823145313

Symbol: VACHT_HUMAN

Name: Vesicular acetylcholine transporter

UniProtKB Accession Codes:

Q16572 B2R7S1

Database IDs:

ABCD 1 AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChEBI 6 ChEMBL 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 6 Ensembl 1 GO 17 Gene3D 1 GeneCards 1 GeneTree 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 GuidetoPHARMACOLOGY 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 4 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PDB 2 PDBsum 2 PIR 1 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 Reactome 3 RefSeq 1 Rhea 5 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TCDB 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 8071310

Title: Functional identification of a vesicular acetylcholine transporter and its expression from a 'cholinergic' gene locus.

PubMed ID: 8071310

DOI: 10.1016/s0021-9258(17)31734-9

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15164054

Title: The DNA sequence and comparative analysis of human chromosome 10.

PubMed ID: 15164054

DOI: 10.1038/nature02462

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 8910293

Title: Active transport of acetylcholine by the human vesicular acetylcholine transporter.

PubMed ID: 8910293

DOI: 10.1074/jbc.271.44.27229

PubMed ID: 17092608

Title: SEC14-like protein 1 interacts with cholinergic transporters.

PubMed ID: 17092608

DOI: 10.1016/j.neuint.2006.09.010

PubMed ID: 20225888

Title: Possible important pair of acidic residues in vesicular acetylcholine transporter.

PubMed ID: 20225888

DOI: 10.1021/bi901953j

PubMed ID: 25355561

Title: Identification of a mammalian vesicular polyamine transporter.

PubMed ID: 25355561

DOI: 10.1038/srep06836

PubMed ID: 27590285

Title: Variants in SLC18A3, vesicular acetylcholine transporter, cause congenital myasthenic syndrome.

PubMed ID: 27590285

DOI: 10.1212/wnl.0000000000003179

Sequence Information:

  • Length: 532
  • Mass: 56903
  • Checksum: 445CDF48F08ED31D
  • Sequence:
    • MESAEPAGQA RAAATKLSEA VGAALQEPRR QRRLVLVIVC VALLLDNMLY MVIVPIVPDY 
IAHMRGGGEG PTRTPEVWEP TLPLPTPANA SAYTANTSAS PTAAWPAGSA LRPRYPTESE 
DVKIGVLFAS KAILQLLVNP LSGPFIDRMS YDVPLLIGLG VMFASTVLFA FAEDYATLFA 
ARSLQGLGSA FADTSGIAMI ADKYPEEPER SRALGVALAF ISFGSLVAPP FGGILYEFAG 
KRVPFLVLAA VSLFDALLLL AVAKPFSAAA RARANLPVGT PIHRLMLDPY IAVVAGALTT 
CNIPLAFLEP TIATWMKHTM AASEWEMGMA WLPAFVPHVL GVYLTVRLAA RYPHLQWLYG 
ALGLAVIGAS SCIVPACRSF APLVVSLCGL CFGIALVDTA LLPTLAFLVD VRHVSVYGSV 
YAIADISYSV AYALGPIVAG HIVHSLGFEQ LSLGMGLANL LYAPVLLLLR NVGLLTRSRS 
ERDVLLDEPP QGLYDAVRLR ERPVSGQDGE PRSPPGPFDA CEDDYNYYYT RS

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.