ENSG00000187714


Homo sapiens

Features
Gene ID: ENSG00000187714
  
Biological name :SLC18A3
  
Synonyms : Q16572 / SLC18A3 / solute carrier family 18 member A3
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 10
Strand: 1
Band: q11.23
Gene start: 49610301
Gene end: 49612720
  
Corresponding Affymetrix probe sets: 207150_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000363229
NCBI entrez gene - 6572     See in Manteia.
OMIM - 600336
RefSeq - NM_003055
RefSeq Peptide - NP_003046
swissprot - Q16572
Ensembl - ENSG00000187714
  
Related genetic diseases (OMIM): 617239 - Myasthenic syndrome, congenital, 21, presynaptic, 617239
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 CABZ01112647.1ENSDARG00000107527Danio rerio
 Q08C75ENSDARG00000006356Danio rerio
 SLC18A3ENSGALG00000041103Gallus gallus
 Slc18a3ENSMUSG00000100241Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
P54219 / SLC18A1 / solute carrier family 18 member A1ENSG0000003656536
Q05940 / SLC18A2 / solute carrier family 18 member A2ENSG0000016564635
Q6NT16 / SLC18B1 / solute carrier family 18 member B1ENSG0000014640917


Protein motifs (from Interpro)
Interpro ID Name
 IPR011701  Major facilitator superfamily
 IPR020846  Major facilitator superfamily domain
 IPR036259  MFS transporter superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006836 neurotransmitter transport IEA
 biological_processGO:0006855 drug transmembrane transport IEA
 biological_processGO:0007269 neurotransmitter secretion TAS
 biological_processGO:0015695 organic cation transport IEA
 biological_processGO:0055085 transmembrane transport IEA
 biological_processGO:0061024 membrane organization TAS
 biological_processGO:0072488 ammonium transmembrane transport IEA
 biological_processGO:1901374 acetate ester transport IEA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0030121 AP-1 adaptor complex IBA
 cellular_componentGO:0030122 AP-2 adaptor complex IBA
 cellular_componentGO:0030665 clathrin-coated vesicle membrane TAS
 cellular_componentGO:0045202 synapse IEA
 cellular_componentGO:0060201 clathrin-sculpted acetylcholine transport vesicle membrane TAS
 cellular_componentGO:0098793 presynapse IEA
 molecular_functionGO:0005277 acetylcholine transmembrane transporter activity TAS
 molecular_functionGO:0042166 acetylcholine binding IBA


Pathways (from Reactome)
Pathway description
Acetylcholine Neurotransmitter Release Cycle
Cargo recognition for clathrin-mediated endocytosis
Clathrin-mediated endocytosis


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000508 Ptosis "Drooping of the eyelid." [HPO:curators]
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 HP:0000602 Ophthalmoplegia 
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 HP:0000639 Nystagmus "Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms." [HPO:curators]
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 HP:0001290 Generalized hypotonia "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators]
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 HP:0002093 Respiratory insufficiency 
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 HP:0002104 Apnea "Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event." [HPO:curators]
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 HP:0002355 Difficulty walking 
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 HP:0003546 Exercise intolerance 
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 HP:0006380 Knee flexion deformities 
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 HP:0010628 Facial muscle weakness "A weakness of any or all of the muscles of the face of any etiology." [HPO:curators]
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 HP:0011968 Feeding difficulties "Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it." [ISCA:eriggs]
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 HP:0012378 Fatigue "A subjective feeling of tiredness characterized by a lack of energy and motivation." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000105649 RAB3A / P20336 / RAB3A, member RAS oncogene family  / complex / reaction
 ENSG00000067715 SYT1 / P21579 / synaptotagmin 1  / complex / reaction
 ENSG00000220205 VAMP2 / P63027 / vesicle associated membrane protein 2  / complex / reaction
 ENSG00000187714 Q16572 / SLC18A3 / solute carrier family 18 member A3  / reaction






 

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