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SPNS1 (sphingolipid transporter 1 (putative))

Identity

Alias (NCBI)HSpin1
LAT
PP2030
SLC62A1
SLC63A1
SPIN1
SPINL
nrs
HGNC (Hugo) SPNS1
HGNC Alias symbHSpin1
nrs
SPINL
PP2030
SPIN1
LAT
SLC63A1
HGNC Previous namespinster homolog 1 (Drosophila)
LocusID (NCBI) 83985
Atlas_Id 58075
Location 16p11.2  [Link to chromosome band 16p11]
Location_base_pair Starts at 28974778 and ends at 28984543 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
BFAR (16p13.12) / SPNS1 (16p11.2)NFATC2IP (16p11.2) / SPNS1 (16p11.2)SPNS1 (16p11.2) / PRKCB (16p12.2)
SPNS1 (16p11.2) / ZNF668 (16p11.2)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 



External links

 

Nomenclature
HGNC (Hugo)SPNS1   30621
Cards
Entrez_Gene (NCBI)SPNS1    sphingolipid transporter 1 (putative)
AliasesHSpin1; LAT; PP2030; SLC62A1; 
SLC63A1; SPIN1; SPINL; nrs
GeneCards (Weizmann)SPNS1
Ensembl hg19 (Hinxton)ENSG00000169682 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000169682 [Gene_View]  ENSG00000169682 [Sequence]  chr16:28974778-28984543 [Contig_View]  SPNS1 [Vega]
ICGC DataPortalENSG00000169682
TCGA cBioPortalSPNS1
AceView (NCBI)SPNS1
Genatlas (Paris)SPNS1
SOURCE (Princeton)SPNS1
Genetics Home Reference (NIH)SPNS1
Genomic and cartography
GoldenPath hg38 (UCSC)SPNS1  -     chr16:28974778-28984543 +  16p11.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SPNS1  -     16p11.2   [Description]    (hg19-Feb_2009)
GoldenPathSPNS1 - 16p11.2 [CytoView hg19]  SPNS1 - 16p11.2 [CytoView hg38]
ImmunoBaseENSG00000169682
Genome Data Viewer NCBISPNS1 [Mapview hg19]  
OMIM612583   
Gene and transcription
Genbank (Entrez)AF212371 AF370423 AK095677 AK289787 AL390215
RefSeq transcript (Entrez)NM_001142448 NM_001142449 NM_001142450 NM_001142451 NM_032038
Consensus coding sequences : CCDS (NCBI)SPNS1
Gene ExpressionSPNS1 [ NCBI-GEO ]   SPNS1 [ EBI - ARRAY_EXPRESS ]   SPNS1 [ SEEK ]   SPNS1 [ MEM ]
Gene Expression Viewer (FireBrowse)SPNS1 [ Firebrowse - Broad ]
GenevisibleExpression of SPNS1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)83985
GTEX Portal (Tissue expression)SPNS1
Human Protein AtlasENSG00000169682-SPNS1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9H2V7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9H2V7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9H2V7
PhosPhoSitePlusQ9H2V7
Domaine pattern : Prosite (Expaxy)MFS (PS50850)   
Domains : Interpro (EBI)MFS    MFS_dom    MFS_trans_sf   
Domain families : Pfam (Sanger)MFS_1 (PF07690)   
Domain families : Pfam (NCBI)pfam07690   
Conserved Domain (NCBI)SPNS1
SuperfamilyQ9H2V7
AlphaFold pdb e-kbQ9H2V7   
Human Protein Atlas [tissue]ENSG00000169682-SPNS1 [tissue]
Protein Interaction databases
DIP (DOE-UCLA)Q9H2V7
IntAct (EBI)Q9H2V7
BioGRIDSPNS1
STRING (EMBL)SPNS1
ZODIACSPNS1
Ontologies - Pathways
QuickGOQ9H2V7
Ontology : AmiGOprotein binding  mitochondrial inner membrane  lysosomal membrane  lipid transport  integral component of membrane  transmembrane transporter activity  transmembrane transport  
Ontology : EGO-EBIprotein binding  mitochondrial inner membrane  lysosomal membrane  lipid transport  integral component of membrane  transmembrane transporter activity  transmembrane transport  
NDEx NetworkSPNS1
Atlas of Cancer Signalling NetworkSPNS1
Wikipedia pathwaysSPNS1
Orthology - Evolution
OrthoDB83985
GeneTree (enSembl)ENSG00000169682
Phylogenetic Trees/Animal Genes : TreeFamSPNS1
Homologs : HomoloGeneSPNS1
Homology/Alignments : Family Browser (UCSC)SPNS1
Gene fusions - Rearrangements
Fusion : QuiverSPNS1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSPNS1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SPNS1
dbVarSPNS1
ClinVarSPNS1
MonarchSPNS1
1000_GenomesSPNS1 
Exome Variant ServerSPNS1
GNOMAD BrowserENSG00000169682
Varsome BrowserSPNS1
ACMGSPNS1 variants
VarityQ9H2V7
Genomic Variants (DGV)SPNS1 [DGVbeta]
DECIPHERSPNS1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSPNS1 
Mutations
ICGC Data PortalSPNS1 
TCGA Data PortalSPNS1 
Broad Tumor PortalSPNS1
OASIS PortalSPNS1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSPNS1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DSPNS1
Mutations and Diseases : HGMDSPNS1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaSPNS1
DgiDB (Drug Gene Interaction Database)SPNS1
DoCM (Curated mutations)SPNS1
CIViC (Clinical Interpretations of Variants in Cancer)SPNS1
Cancer3DSPNS1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM612583   
Orphanet
DisGeNETSPNS1
MedgenSPNS1
Genetic Testing Registry SPNS1
NextProtQ9H2V7 [Medical]
GENETestsSPNS1
Target ValidationSPNS1
Huge Navigator SPNS1 [HugePedia]
ClinGenSPNS1
Clinical trials, drugs, therapy
MyCancerGenomeSPNS1
Protein Interactions : CTDSPNS1
Pharm GKB GenePA162404561
PharosQ9H2V7
Clinical trialSPNS1
Miscellaneous
canSAR (ICR)SPNS1
HarmonizomeSPNS1
DataMed IndexSPNS1
Probes
Litterature
PubMed28 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXSPNS1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Mon Oct 4 15:32:56 CEST 2021

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