SLC18A1 (solute carrier family 18 member A1) - Rat Genome Database
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Gene: SLC18A1 (solute carrier family 18 member A1) Homo sapiens
Analyze
Symbol: SLC18A1
Name: solute carrier family 18 member A1
RGD ID: 737319
HGNC Page HGNC
Description: Predicted to have serotonin:sodium symporter activity. Predicted to be involved in aminergic neurotransmitter loading into synaptic vesicle. Predicted to localize to synaptic vesicle membrane and terminal bouton. Implicated in bipolar disorder and schizophrenia. Biomarker of von Hippel-Lindau disease.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: CGAT; chromaffin granule amine transporter; solute carrier family 18 (vesicular monoamine transporter), member 1; solute carrier family 18 (vesicular monoamine), member 1; solute carrier family 18 member 1; solute carrier family 18, member 1; VAT1; vesicular amine transporter 1; VMAT1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl820,144,855 - 20,183,206 (-)EnsemblGRCh38hg38GRCh38
GRCh38820,144,855 - 20,183,139 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37820,002,366 - 20,040,717 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36820,046,652 - 20,084,997 (-)NCBINCBI36hg18NCBI36
Build 34820,046,651 - 20,084,997NCBI
Celera818,964,997 - 19,003,346 (-)NCBI
Cytogenetic Map8p21.3NCBI
HuRef818,542,580 - 18,580,897 (-)NCBIHuRef
CHM1_1820,204,176 - 20,242,504 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:7905859   PMID:8643547   PMID:11431013   PMID:12477932   PMID:12807698   PMID:12827358   PMID:12871984   PMID:16326835   PMID:17134514   PMID:18193046   PMID:18249496   PMID:18702937  
PMID:19060910   PMID:19156168   PMID:20031538   PMID:20038947   PMID:20468064   PMID:20677014   PMID:21873635   PMID:21883697   PMID:23090274   PMID:23337945   PMID:23505323   PMID:24886709  
PMID:25842846   PMID:26186194   PMID:26338179   PMID:26861143   PMID:26876819   PMID:28408293   PMID:28476685   PMID:28514442   PMID:28968818   PMID:29536333   PMID:29602729   PMID:29998543  
PMID:30194079   PMID:30656852   PMID:31317476   PMID:31791232   PMID:32296183  


Genomics

Comparative Map Data
SLC18A1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl820,144,855 - 20,183,206 (-)EnsemblGRCh38hg38GRCh38
GRCh38820,144,855 - 20,183,139 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37820,002,366 - 20,040,717 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36820,046,652 - 20,084,997 (-)NCBINCBI36hg18NCBI36
Build 34820,046,651 - 20,084,997NCBI
Celera818,964,997 - 19,003,346 (-)NCBI
Cytogenetic Map8p21.3NCBI
HuRef818,542,580 - 18,580,897 (-)NCBIHuRef
CHM1_1820,204,176 - 20,242,504 (-)NCBICHM1_1
Slc18a1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39869,490,360 - 69,547,951 (-)NCBIGRCm39mm39
GRCm38869,037,708 - 69,089,238 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl869,037,711 - 69,089,235 (-)EnsemblGRCm38mm10GRCm38
MGSCv37871,561,607 - 71,613,121 (-)NCBIGRCm37mm9NCBIm37
MGSCv36871,966,697 - 72,018,211 (-)NCBImm8
Celera871,585,811 - 71,639,074 (-)NCBICelera
Cytogenetic Map8B3.3NCBI
cM Map833.88NCBI
Slc18a1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rnor_6.01622,358,646 - 22,395,183 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1622,361,998 - 22,395,183 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01622,256,523 - 22,289,704 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41622,356,304 - 22,389,827 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11622,356,297 - 22,389,825 (+)NCBI
Celera1620,629,165 - 20,846,643 (+)NCBICelera
Cytogenetic Map16p14NCBI
RH 3.4 Map16253.67RGD
Slc18a1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540343,821,296 - 43,848,399 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540343,821,978 - 43,848,403 (-)NCBIChiLan1.0ChiLan1.0
SLC18A1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1816,318,744 - 16,353,708 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl816,318,744 - 16,353,708 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0819,369,843 - 19,408,412 (-)NCBIMhudiblu_PPA_v0panPan3
SLC18A1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl2536,872,636 - 36,904,056 (+)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.12536,859,047 - 36,904,057 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Slc18a1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_0049365554,249,821 - 4,271,379 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SLC18A1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl144,243,557 - 4,278,989 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1144,243,553 - 4,279,341 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2144,278,115 - 4,313,822 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SLC18A1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1818,214,703 - 18,250,025 (-)NCBI
ChlSab1.1 Ensembl818,214,701 - 18,249,731 (-)Ensembl
Slc18a1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462475815,863,410 - 15,894,958 (-)NCBI

Position Markers
SLC18A1_248  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37820,002,350 - 20,003,108UniSTSGRCh37
Build 36820,046,630 - 20,047,388RGDNCBI36
Celera818,964,981 - 18,965,739RGD
HuRef818,542,564 - 18,543,322UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3725
Count of miRNA genes:802
Interacting mature miRNAs:934
Transcripts:ENST00000265808, ENST00000276373, ENST00000381608, ENST00000437980, ENST00000440926, ENST00000517776, ENST00000519026, ENST00000519171, ENST00000522513, ENST00000524272
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 5 33 1 1 1 10 10 4 5 19
Low 481 9 79 2 223 2 50 6 131 12 79 48 5
Below cutoff 1101 1682 856 196 903 108 2131 896 2685 141 883 891 89 822 1325 2

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000265808   ⟹   ENSP00000265808
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl820,144,855 - 20,183,115 (-)Ensembl
RefSeq Acc Id: ENST00000276373   ⟹   ENSP00000276373
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl820,144,855 - 20,183,136 (-)Ensembl
RefSeq Acc Id: ENST00000381608   ⟹   ENSP00000371021
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl820,145,788 - 20,180,964 (-)Ensembl
RefSeq Acc Id: ENST00000437980   ⟹   ENSP00000413361
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl820,144,856 - 20,183,206 (-)Ensembl
RefSeq Acc Id: ENST00000440926   ⟹   ENSP00000387549
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl820,144,856 - 20,183,206 (-)Ensembl
RefSeq Acc Id: ENST00000517776   ⟹   ENSP00000428001
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl820,144,859 - 20,183,125 (-)Ensembl
RefSeq Acc Id: ENST00000519026   ⟹   ENSP00000429664
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl820,145,498 - 20,183,172 (-)Ensembl
RefSeq Acc Id: ENST00000519171
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl820,147,603 - 20,150,996 (-)Ensembl
RefSeq Acc Id: ENST00000522513   ⟹   ENSP00000428999
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl820,171,103 - 20,183,117 (-)Ensembl
RefSeq Acc Id: ENST00000524272
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl820,171,105 - 20,175,922 (-)Ensembl
RefSeq Acc Id: NM_001135691   ⟹   NP_001129163
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38820,144,855 - 20,183,136 (-)NCBI
GRCh37820,002,366 - 20,040,717 (-)ENTREZGENE
HuRef818,542,580 - 18,580,897 (-)ENTREZGENE
CHM1_1820,204,176 - 20,242,504 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001142324   ⟹   NP_001135796
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38820,144,855 - 20,183,136 (-)NCBI
GRCh37820,002,366 - 20,040,717 (-)ENTREZGENE
HuRef818,542,580 - 18,580,897 (-)ENTREZGENE
CHM1_1820,204,176 - 20,242,504 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001142325   ⟹   NP_001135797
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38820,144,855 - 20,183,136 (-)NCBI
GRCh37820,002,366 - 20,040,717 (-)ENTREZGENE
HuRef818,542,580 - 18,580,897 (-)ENTREZGENE
CHM1_1820,204,176 - 20,242,504 (-)NCBI
Sequence:
RefSeq Acc Id: NM_003053   ⟹   NP_003044
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38820,144,855 - 20,183,136 (-)NCBI
GRCh37820,002,366 - 20,040,717 (-)ENTREZGENE
Build 36820,046,652 - 20,084,997 (-)NCBI Archive
HuRef818,542,580 - 18,580,897 (-)ENTREZGENE
CHM1_1820,204,176 - 20,242,504 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011544625   ⟹   XP_011542927
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38820,144,855 - 20,183,139 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011544626   ⟹   XP_011542928
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38820,144,855 - 20,183,139 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_003044   ⟸   NM_003053
- Peptide Label: isoform a
- UniProtKB: P54219 (UniProtKB/Swiss-Prot),   Q96GL6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001135796   ⟸   NM_001142324
- Peptide Label: isoform b
- UniProtKB: P54219 (UniProtKB/Swiss-Prot),   Q96GL6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001135797   ⟸   NM_001142325
- Peptide Label: isoform c
- UniProtKB: P54219 (UniProtKB/Swiss-Prot),   Q96GL6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001129163   ⟸   NM_001135691
- Peptide Label: isoform a
- UniProtKB: P54219 (UniProtKB/Swiss-Prot),   Q96GL6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011542927   ⟸   XM_011544625
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011542928   ⟸   XM_011544626
- Peptide Label: isoform X2
- UniProtKB: P54219 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000413361   ⟸   ENST00000437980
RefSeq Acc Id: ENSP00000428001   ⟸   ENST00000517776
RefSeq Acc Id: ENSP00000429664   ⟸   ENST00000519026
RefSeq Acc Id: ENSP00000387549   ⟸   ENST00000440926
RefSeq Acc Id: ENSP00000428999   ⟸   ENST00000522513
RefSeq Acc Id: ENSP00000276373   ⟸   ENST00000276373
RefSeq Acc Id: ENSP00000371021   ⟸   ENST00000381608
RefSeq Acc Id: ENSP00000265808   ⟸   ENST00000265808
Protein Domains
MFS

Promoters
RGD ID:7212749
Promoter ID:EPDNEW_H12120
Type:initiation region
Name:SLC18A1_1
Description:solute carrier family 18 member A1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38820,183,136 - 20,183,196EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3 copy number gain See cases [RCV000050294] Chr8:12609975..42085703 [GRCh38]
Chr8:12467484..41943221 [GRCh37]
Chr8:12511855..42062378 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh38/hg38 8p23.3-21.1(chr8:2475295-27504279)x1 copy number loss See cases [RCV000050297] Chr8:2475295..27504279 [GRCh38]
Chr8:2292235..27361796 [GRCh37]
Chr8:2121457..27417713 [NCBI36]
Chr8:8p23.3-21.1
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3 copy number gain See cases [RCV000050912] Chr8:12728904..43673207 [GRCh38]
Chr8:12586413..43528350 [GRCh37]
Chr8:12630784..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-12(chr8:12383584-36370018)x3 copy number gain See cases [RCV000051145] Chr8:12383584..36370018 [GRCh38]
Chr8:12241093..36227536 [GRCh37]
Chr8:12285464..36347088 [NCBI36]
Chr8:8p23.1-12
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12728904-41928741)x3 copy number gain See cases [RCV000051110] Chr8:12728904..41928741 [GRCh38]
Chr8:12586413..41786259 [GRCh37]
Chr8:12630784..41905416 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh38/hg38 8p21.3(chr8:20015542-20735743)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052166]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052166]|See cases [RCV000052166] Chr8:20015542..20735743 [GRCh38]
Chr8:19873053..20593254 [GRCh37]
Chr8:19917333..20637534 [NCBI36]
Chr8:8p21.3
uncertain significance
GRCh38/hg38 8p23.1-11.23(chr8:12609975-37892000)x3 copy number gain See cases [RCV000053629] Chr8:12609975..37892000 [GRCh38]
Chr8:12467484..37749518 [GRCh37]
Chr8:12511855..37868676 [NCBI36]
Chr8:8p23.1-11.23
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3 copy number gain See cases [RCV000053630] Chr8:12609975..43336172 [GRCh38]
Chr8:12467484..43191315 [GRCh37]
Chr8:12511855..43310472 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43255410)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053631]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053631]|See cases [RCV000053631] Chr8:12609975..43255410 [GRCh38]
Chr8:12467484..43110553 [GRCh37]
Chr8:12511855..43229710 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3 copy number gain See cases [RCV000053632] Chr8:12750796..43532444 [GRCh38]
Chr8:12608305..43387587 [GRCh37]
Chr8:12652676..43506744 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-12(chr8:12750796-29445409)x3 copy number gain See cases [RCV000053633] Chr8:12750796..29445409 [GRCh38]
Chr8:12608305..29302926 [GRCh37]
Chr8:12652676..29358845 [NCBI36]
Chr8:8p23.1-12
pathogenic
GRCh38/hg38 8p23.1-21.3(chr8:12787272-20952389)x3 copy number gain See cases [RCV000053634] Chr8:12787272..20952389 [GRCh38]
Chr8:12644781..20809900 [GRCh37]
Chr8:12689152..20854180 [NCBI36]
Chr8:8p23.1-21.3
pathogenic
GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3 copy number gain See cases [RCV000053635] Chr8:14940110..47929925 [GRCh38]
Chr8:14797619..48842485 [GRCh37]
Chr8:14841990..49005038 [NCBI36]
Chr8:8p22-q11.21
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-12(chr8:96310-30614703)x3 copy number gain See cases [RCV000053599] Chr8:96310..30614703 [GRCh38]
Chr8:46310..30472220 [GRCh37]
Chr8:36310..30591762 [NCBI36]
Chr8:8p23.3-12
pathogenic
NM_001135691.2(SLC18A1):c.897C>T (p.Asp299=) single nucleotide variant Malignant melanoma [RCV000068234] Chr8:20165069 [GRCh38]
Chr8:20022580 [GRCh37]
Chr8:20066860 [NCBI36]
Chr8:8p21.3
not provided
GRCh38/hg38 8p23.1-21.3(chr8:12732530-20436882)x3 copy number gain See cases [RCV000135294] Chr8:12732530..20436882 [GRCh38]
Chr8:12590039..20294393 [GRCh37]
Chr8:12634410..20338673 [NCBI36]
Chr8:8p23.1-21.3
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43673207)x3 copy number gain See cases [RCV000135786] Chr8:12609975..43673207 [GRCh38]
Chr8:12467484..43528350 [GRCh37]
Chr8:12511855..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12383584-43673207)x3 copy number gain See cases [RCV000135566] Chr8:12383584..43673207 [GRCh38]
Chr8:12241093..43528350 [GRCh37]
Chr8:12285464..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12728904-40169194)x3 copy number gain See cases [RCV000136516] Chr8:12728904..40169194 [GRCh38]
Chr8:12586413..40026713 [GRCh37]
Chr8:12630784..40145870 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh38/hg38 8p23.3-21.2(chr8:241605-24656971)x3 copy number gain See cases [RCV000136026] Chr8:241605..24656971 [GRCh38]
Chr8:191605..24514484 [GRCh37]
Chr8:181605..24570374 [NCBI36]
Chr8:8p23.3-21.2
pathogenic
GRCh38/hg38 8p23.3-21.3(chr8:241530-23198398)x3 copy number gain See cases [RCV000135967] Chr8:241530..23198398 [GRCh38]
Chr8:191530..23055911 [GRCh37]
Chr8:181530..23111856 [NCBI36]
Chr8:8p23.3-21.3
pathogenic
GRCh38/hg38 8p23.1-12(chr8:12725750-30180521)x3 copy number gain See cases [RCV000136825] Chr8:12725750..30180521 [GRCh38]
Chr8:12583259..30038037 [GRCh37]
Chr8:12627630..30157579 [NCBI36]
Chr8:8p23.1-12
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3 copy number gain See cases [RCV000137249] Chr8:12182421..43673207 [GRCh38]
Chr8:12039930..43528350 [GRCh37]
Chr8:12077339..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-12(chr8:12698495-35476082)x3 copy number gain See cases [RCV000138058] Chr8:12698495..35476082 [GRCh38]
Chr8:12556004..35333600 [GRCh37]
Chr8:12600375..35453142 [NCBI36]
Chr8:8p23.1-12
pathogenic
GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3 copy number gain See cases [RCV000137807] Chr8:226452..38021728 [GRCh38]
Chr8:176452..37879246 [GRCh37]
Chr8:166452..37998403 [NCBI36]
Chr8:8p23.3-11.23
pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-12(chr8:241605-31091074)x3 copy number gain See cases [RCV000138831] Chr8:241605..31091074 [GRCh38]
Chr8:191605..30948590 [GRCh37]
Chr8:181605..31068132 [NCBI36]
Chr8:8p23.3-12
pathogenic
GRCh38/hg38 8p23.1-21.1(chr8:12382844-28625564)x3 copy number gain See cases [RCV000138244] Chr8:12382844..28625564 [GRCh38]
Chr8:12240353..28483081 [GRCh37]
Chr8:12284724..28539000 [NCBI36]
Chr8:8p23.1-21.1
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3 copy number gain See cases [RCV000139891] Chr8:7141697..38695546 [GRCh38]
Chr8:6999219..38553064 [GRCh37]
Chr8:6986629..38672221 [NCBI36]
Chr8:8p23.1-11.22
pathogenic
GRCh38/hg38 8p23.1-11.22(chr8:12729023-39235934)x3 copy number gain See cases [RCV000139770] Chr8:12729023..39235934 [GRCh38]
Chr8:12586532..39093453 [GRCh37]
Chr8:12630903..39212610 [NCBI36]
Chr8:8p23.1-11.22
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3 copy number gain See cases [RCV000139796] Chr8:12646123..43686843 [GRCh38]
Chr8:12503632..43541986 [GRCh37]
Chr8:12548003..43661143 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.23(chr8:11851113-37216333)x3 copy number gain See cases [RCV000139549] Chr8:11851113..37216333 [GRCh38]
Chr8:11708622..37073851 [GRCh37]
Chr8:11746031..37193009 [NCBI36]
Chr8:8p23.1-11.23
pathogenic
GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3 copy number gain See cases [RCV000141410] Chr8:226452..34491890 [GRCh38]
Chr8:176452..34349408 [GRCh37]
Chr8:166452..34468950 [NCBI36]
Chr8:8p23.3-12
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.1-12(chr8:12383584-29033946)x1 copy number loss See cases [RCV000142516] Chr8:12383584..29033946 [GRCh38]
Chr8:12241093..28891463 [GRCh37]
Chr8:12285464..28947382 [NCBI36]
Chr8:8p23.1-12
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p22-12(chr8:18972996-33619264)x1 copy number loss See cases [RCV000142747] Chr8:18972996..33619264 [GRCh38]
Chr8:18830506..33476782 [GRCh37]
Chr8:18874786..33596324 [NCBI36]
Chr8:8p22-12
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12633490-40685533)x3 copy number gain See cases [RCV000143508] Chr8:12633490..40685533 [GRCh38]
Chr8:12490999..40543052 [GRCh37]
Chr8:12535370..40662209 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3 copy number gain See cases [RCV000148249] Chr8:12609975..42085703 [GRCh38]
Chr8:12467484..41943221 [GRCh37]
Chr8:12511855..42062378 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3 copy number gain See cases [RCV000148237] Chr8:12728904..43673207 [GRCh38]
Chr8:12586413..43528350 [GRCh37]
Chr8:12630784..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.2-21.1(chr8:2475295-27504279)x1 copy number loss See cases [RCV000148252] Chr8:2475295..27504279 [GRCh38]
Chr8:2292235..27361796 [GRCh37]
Chr8:2121457..27417713 [NCBI36]
Chr8:8p23.2-21.1
pathogenic
GRCh37/hg19 8p23.1-11.22(chr8:12528482-39593802)x3 copy number gain See cases [RCV000511325] Chr8:12528482..39593802 [GRCh37]
Chr8:8p23.1-11.22
pathogenic
GRCh37/hg19 8p23.1-21.2(chr8:12580132-26774307)x3 copy number gain See cases [RCV000239945] Chr8:12580132..26774307 [GRCh37]
Chr8:8p23.1-21.2
pathogenic
GRCh37/hg19 8p23.3-12(chr8:158048-30262760)x3 copy number gain See cases [RCV000449225] Chr8:158048..30262760 [GRCh37]
Chr8:8p23.3-12
pathogenic
GRCh37/hg19 8p22-21.2(chr8:13091530-24483615) copy number loss See cases [RCV000447428] Chr8:13091530..24483615 [GRCh37]
Chr8:8p22-21.2
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-11.1(chr8:158048-43786723)x3 copy number gain See cases [RCV000447909] Chr8:158048..43786723 [GRCh37]
Chr8:8p23.3-11.1
pathogenic
GRCh37/hg19 8p23.1-11.1(chr8:12580132-43388233)x3 copy number gain See cases [RCV000447913] Chr8:12580132..43388233 [GRCh37]
Chr8:8p23.1-11.1
pathogenic
GRCh37/hg19 8p22-12(chr8:16992973-32612724)x1 copy number loss not provided [RCV000509389] Chr8:16992973..32612724 [GRCh37]
Chr8:8p22-12
not provided
GRCh37/hg19 8p21.3(chr8:19898987-20816188)x3 copy number gain See cases [RCV000510316] Chr8:19898987..20816188 [GRCh37]
Chr8:8p21.3
uncertain significance
GRCh37/hg19 8p23.1-12(chr8:12528482-33684786)x3 copy number gain See cases [RCV000510571] Chr8:12528482..33684786 [GRCh37]
Chr8:8p23.1-12
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.1-11.1(chr8:11935023-43824035)x3 copy number gain See cases [RCV000511028] Chr8:11935023..43824035 [GRCh37]
Chr8:8p23.1-11.1
pathogenic
GRCh37/hg19 8p23.1-12(chr8:11945855-34875355)x3 copy number gain See cases [RCV000510899] Chr8:11945855..34875355 [GRCh37]
Chr8:8p23.1-12
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.1-21.2(chr8:12580104-25947329) copy number gain Autistic disorder of childhood onset [RCV000626542] Chr8:12580104..25947329 [GRCh37]
Chr8:8p23.1-21.2
pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
GRCh37/hg19 8p23.1-21.2(chr8:8770948-27079636)x3 copy number gain not provided [RCV000683041] Chr8:8770948..27079636 [GRCh37]
Chr8:8p23.1-21.2
pathogenic
GRCh37/hg19 8p23.3-21.2(chr8:1825200-24533193)x3 copy number gain not provided [RCV000683042] Chr8:1825200..24533193 [GRCh37]
Chr8:8p23.3-21.2
pathogenic
GRCh37/hg19 8p21.3(chr8:19686384-20484203)x3 copy number gain not provided [RCV000683000] Chr8:19686384..20484203 [GRCh37]
Chr8:8p21.3
uncertain significance
GRCh37/hg19 8p23.1-12(chr8:12552775-35935825)x3 copy number gain not provided [RCV000683043] Chr8:12552775..35935825 [GRCh37]
Chr8:8p23.1-12
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.1-12(chr8:12556004-34374150)x3 copy number gain not provided [RCV000762735] Chr8:12556004..34374150 [GRCh37]
Chr8:8p23.1-12
likely pathogenic
Single allele duplication not provided [RCV000768452] Chr8:12546855..35816855 [GRCh37]
Chr8:8p23.1-12
likely pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p22-21.3(chr8:18266233-20864195)x1 copy number loss not provided [RCV000847806] Chr8:18266233..20864195 [GRCh37]
Chr8:8p22-21.3
uncertain significance
GRCh37/hg19 8p21.3(chr8:19604406-20174467)x1 copy number loss not provided [RCV000846804] Chr8:19604406..20174467 [GRCh37]
Chr8:8p21.3
uncertain significance
GRCh37/hg19 8p21.3(chr8:19731374-20266121)x3 copy number gain not provided [RCV000850024] Chr8:19731374..20266121 [GRCh37]
Chr8:8p21.3
uncertain significance
GRCh37/hg19 8p23.1-12(chr8:12528482-29886483)x3 copy number gain not provided [RCV001260030] Chr8:12528482..29886483 [GRCh37]
Chr8:8p23.1-12
likely pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:10934 AgrOrtholog
COSMIC SLC18A1 COSMIC
Ensembl Genes ENSG00000036565 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000265808 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000276373 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000371021 UniProtKB/Swiss-Prot
  ENSP00000387549 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000413361 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000428001 UniProtKB/TrEMBL
  ENSP00000428999 UniProtKB/TrEMBL
  ENSP00000429664 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000265808 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000276373 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000381608 UniProtKB/Swiss-Prot
  ENST00000437980 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000440926 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000517776 UniProtKB/TrEMBL
  ENST00000519026 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000522513 UniProtKB/TrEMBL
GTEx ENSG00000036565 GTEx
HGNC ID HGNC:10934 ENTREZGENE
Human Proteome Map SLC18A1 Human Proteome Map
InterPro MFS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MFS_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MFS_trans_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Multidrug-R UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:6570 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 6570 ENTREZGENE
OMIM 193002 OMIM
Pfam MFS_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA324 PharmGKB
PROSITE MFS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF103473 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGRFAMs 2_A_01_02 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt D3DSQ4_HUMAN UniProtKB/TrEMBL
  E5RK12_HUMAN UniProtKB/TrEMBL
  P54219 ENTREZGENE
  Q96GL6 ENTREZGENE, UniProtKB/TrEMBL
  VMAT1_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary E9PDJ5 UniProtKB/Swiss-Prot
  Q9BRE4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-29 SLC18A1  solute carrier family 18 member A1    solute carrier family 18 member 1  Symbol and/or name change 5135510 APPROVED
2016-02-23 SLC18A1  solute carrier family 18 member 1    solute carrier family 18 (vesicular monoamine transporter), member 1  Symbol and/or name change 5135510 APPROVED
2013-07-23 SLC18A1  solute carrier family 18 (vesicular monoamine transporter), member 1    solute carrier family 18 (vesicular monoamine), member 1  Symbol and/or name change 5135510 APPROVED
2011-08-17 SLC18A1  solute carrier family 18 (vesicular monoamine), member 1  SLC18A1  solute carrier family 18 (vesicular monoamine), member 1  Symbol and/or name change 5135510 APPROVED