Gene Page: SLC17A1

Summary ?
GeneID6568
SymbolSLC17A1
SynonymsNAPI-1|NPT-1|NPT1
Descriptionsolute carrier family 17 member 1
ReferenceMIM:182308|HGNC:HGNC:10929|Ensembl:ENSG00000124568|HPRD:01661|Vega:OTTHUMG00000016297
Gene typeprotein-coding
Map location6p22.2
Pascal p-value5.385E-11
Fetal beta-0.212
SupportCompositeSet

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CV:GWASdbGenome-wide Association StudiesGWASdb records for schizophrenia
CV:PGCnpGenome-wide Association StudyGWAS
DNM:Xu_2012Whole Exome Sequencing analysisDe novo mutations of 4 genes were identified by exome sequencing of 795 samples in this study
GSMA_IGenome scan meta-analysisPsr: 0.033 

Section I. Genetics and epigenetics annotation

@DNM table

GeneChromosomePositionRefAltTranscriptAA changeMutation typeSiftCG46TraitStudy
SLC17A1chr625813095CTNM_005074p.287M>ImissenseSchizophreniaDNM:Xu_2012


Section II. Transcriptome annotation

General gene expression (GTEx)

Not available

Gene expression during devlopment (BrainCloud)

Footnote:
A total of 269 time points ploted, with n=38 fetal samples (x=1:38). Each triangle represents one time point.

Gene expression of temporal and spatial changes (BrainSpan)

Footnote:
SC: sub-cortical regions; SM: sensory-motor regions; FC: frontal cortex; and TP: temporal-parietal cortex
ST1: fetal (13 - 26 postconception weeks), ST2: early infancy to late childhood (4 months to 11 years), and ST3: adolescence to adulthood (13 - 23 years)
The bar shown representes the lower 25% and upper 25% of the expression distribution.

Top co-expressed genes in brain regions

Top 10 positively co-expressed genes
GenePearson's Correlation Spearman's Correlation
CHST140.920.82
PTBP10.920.78
TGIF20.920.78
TP530.910.76
EPHB40.900.80
ERBB20.900.87
TEAD20.890.66
FZD20.890.77
PRKD20.890.69
CENPM0.870.51
Top 10 negatively co-expressed genes
GenePearson's Correlation Spearman's Correlation
SERPINI1-0.40-0.53
CHN1-0.39-0.47
ADAP1-0.38-0.39
EPHX4-0.38-0.54
CCNI2-0.38-0.44
OSBPL1A-0.38-0.44
OSTF1-0.38-0.47
CKMT1A-0.37-0.45
HTATIP2-0.37-0.42
C5orf53-0.37-0.38

Section III. Gene Ontology annotation

Molecular functionGO termEvidenceNeuro keywordsPubMed ID
GO:0005215transporter activityIEA-
GO:0015293symporter activityIEA-
GO:0015321sodium-dependent phosphate transmembrane transporter activityTAS8867793 
GO:0031402sodium ion bindingIEA-
Biological processGO termEvidenceNeuro keywordsPubMed ID
GO:0006817phosphate transportTAS8867793 
GO:0006814sodium ion transportIEA-
GO:0006811ion transportIEA-
Cellular componentGO termEvidenceNeuro keywordsPubMed ID
GO:0005624membrane fractionTAS8288239 
GO:0016020membraneIEA-
GO:0005887integral to plasma membraneTAS8288239 

Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
REACTOME TRANSMEMBRANE TRANSPORT OF SMALL MOLECULES 413270All SZGR 2.0 genes in this pathway
REACTOME SLC MEDIATED TRANSMEMBRANE TRANSPORT 241157All SZGR 2.0 genes in this pathway
REACTOME TRANSPORT OF INORGANIC CATIONS ANIONS AND AMINO ACIDS OLIGOPEPTIDES 9465All SZGR 2.0 genes in this pathway
REACTOME AMINO ACID AND OLIGOPEPTIDE SLC TRANSPORTERS 4936All SZGR 2.0 genes in this pathway
DODD NASOPHARYNGEAL CARCINOMA UP 1821933All SZGR 2.0 genes in this pathway
FLECHNER BIOPSY KIDNEY TRANSPLANT REJECTED VS OK DN 546351All SZGR 2.0 genes in this pathway
SU KIDNEY 158All SZGR 2.0 genes in this pathway
ZHENG IL22 SIGNALING DN 4226All SZGR 2.0 genes in this pathway
PIONTEK PKD1 TARGETS UP 3824All SZGR 2.0 genes in this pathway
CHIANG LIVER CANCER SUBCLASS CTNNB1 UP 176110All SZGR 2.0 genes in this pathway