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SPNS1 Gene

protein-coding   GIFtS: 48
GCID: GC16P028986

Spinster Homolog 1 (Drosophila)

  Search for SPNS1
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Spinster Homolog 1 (Drosophila)1 2     PP20302
SPIN12 3 5     SPINL2
Spinster-Like Protein 12 3     nrs2
HSpin12 3     Protein Spinster Homolog 12
LAT2     

External Ids:    HGNC: 306211   Entrez Gene: 839852   Ensembl: ENSG000001696827   OMIM: 6125835   UniProtKB: Q9H2V73   

Export aliases for SPNS1 gene to outside databases

Previous GC identifers: GC16P028897 GC16P026853


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for SPNS1 Gene:
SPNS1 (spinster homolog 1 (Drosophila)) is a protein-coding gene. An important paralog of this gene is SPNS3.

UniProtKB/Swiss-Prot: SPNS1_HUMAN, Q9H2V7
Function: Sphingolipid transporter (By similarity). May be involved in necrotic or autophagic cell death




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000016.9  NT_187260.1  NC_018927.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SPNS1 gene promoter:
         AhR   ATF-2   c-Jun   NF-kappaB   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSPNS1 promoter sequence
   Search Chromatin IP Primers for SPNS1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SPNS1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 16p11.2   Ensembl cytogenetic band:  16p11.2   HGNC cytogenetic band: 16p11.2

SPNS1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SPNS1 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P028986:  view genomic region     (about GC identifiers)

Start:
28,985,542 bp from pter      End:
28,995,869 bp from pter
Size:
10,328 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: SPNS1_HUMAN, Q9H2V7 (See protein sequence)
Recommended Name: Protein spinster homolog 1  
Size: 528 amino acids; 56630 Da
Subunit: Interacts with BCL2 and BCL2L1
Sequence caution: Sequence=AAQ15259.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=AAQ15259.1; Type=Frameshift; Positions=97;
Secondary accessions: B5MDM9 Q6P182 Q71RB5 Q7L541 Q86VU7 Q8N953 Q8TCS5 Q9BRN5
Alternative splicing: 5 isoforms:  Q9H2V7-1   Q9H2V7-2   Q9H2V7-3   Q9H2V7-4   Q9H2V7-5   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SPNS1: NX_Q9H2V7

Explore proteomics data for SPNS1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See SPNS1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (5 alternative transcripts): 
    NP_001135920.1  NP_001135921.1  NP_001135922.1  NP_001135923.1  NP_114427.1  

    ENSEMBL proteins: 
     ENSP00000457011   ENSP00000455101   ENSP00000454360   ENSP00000309945   ENSP00000318228  
     ENSP00000335494   ENSP00000306050   ENSP00000456119   ENSP00000455429   ENSP00000455467  

    SPNS1 Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for SPNS1
    OriGene Custom MassSpec
    OriGene Custom Protein Services for SPNS1
    GenScript Custom Purified and Recombinant Proteins Services for SPNS1
    Novus Biologicals SPNS1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for SPNS1

     
    Search eBioscience for Proteins for SPNS1 

    SPNS1 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    Browse OriGene Antibodies
    OriGene Custom Antibody Services for SPNS1
    Novus Biologicals SPNS1 Antibodies
    Abcam antibodies for SPNS1
    Cloud-Clone Corp. Antibodies for SPNS1
    Search ThermoFisher Antibodies for SPNS1
    LSBio Antibodies in human, mouse, rat for SPNS1

    SPNS1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for SPNS1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for SPNS1
    Cloud-Clone Corp. CLIAs for SPNS1
    Search eBioscience for ELISAs for SPNS1 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR020846 MFS_dom
     IPR011701 MFS
     IPR016196 MFS_dom_general_subst_transpt

    Graphical View of Domain Structure for InterPro Entry Q9H2V7

    ProtoNet protein and cluster: Q9H2V7

    UniProtKB/Swiss-Prot: SPNS1_HUMAN, Q9H2V7
    Similarity: Belongs to the major facilitator superfamily. Spinster (TC 2.A.1.49) family


    Find genes that share domains with SPNS1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SPNS1_HUMAN, Q9H2V7
    Function: Sphingolipid transporter (By similarity). May be involved in necrotic or autophagic cell death

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005215transporter activity ----
    GO:0005515protein binding IPI12815463
    GO:0022857transmembrane transporter activity ----
         
    Find genes that share ontologies with SPNS1           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for SPNS1:
     Increased cell number in G2M,  

         4 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Spns1):
     behavior/neurological  cardiovascular system  homeostasis/metabolism  mortality/aging 

    Find genes that share phenotypes with SPNS1           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SPNS1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SPNS1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SPNS1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SPNS1

    miRNA
    Products:
        
    miRTarBase miRNAs that target SPNS1:
    hsa-mir-1227-3p (MIRT036406), hsa-mir-503-5p (MIRT041120)

    Block miRNA regulation of human, mouse, rat SPNS1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SPNS1 (see all 14):
    hsa-miR-142-3p hsa-miR-4300 hsa-miR-185* hsa-miR-187* hsa-miR-1283 hsa-miR-520d-5p hsa-miR-29a hsa-miR-29c
    SwitchGear 3'UTR luciferase reporter plasmidSPNS1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for SPNS1
    Predesigned siRNA for gene silencing in human, mouse, rat SPNS1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for SPNS1

    Clone
    Products:
         
    OriGene clones in human, mouse for SPNS1 (see all 30)
    OriGene ORF clones in mouse, rat for SPNS1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 5): SPNS1 (NM_001142448)
    Sino Biological Human cDNA Clone for SPNS1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SPNS1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SPNS1

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for SPNS1
    Browse ESI BIO Cell Lines and PureStem Progenitors for SPNS1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPNS1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    SPNS1_HUMAN, Q9H2V7: Mitochondrion inner membrane; Multi-pass membrane protein. Note=Colocalizes with SDHB
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    plasma membrane3
    cytosol2
    golgi apparatus2
    nucleus2
    peroxisome1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005743mitochondrial inner membrane IEA--
    GO:0005765lysosomal membrane IDA17897319
    GO:0016020membrane ----
    GO:0016021integral component of membrane IEA--

    Find genes that share ontologies with SPNS1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for SPNS1 (see all 14)
        ICos-ICosL Pathway in T-Helper Cell
    Rap1 Pathway
    CD28 Signaling in T-Helper Cell
    Tec Kinases Signaling
    CTLA4 Signaling



        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SPNS1
    Interactions:

        GeneGlobe Interaction Network for SPNS1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 12)

    Selected Interacting proteins for SPNS1 (Q9H2V71, 3 ENSP000003099454) via UniProtKB, MINT, STRING, and/or I2D (see all 13)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BCL2L1Q078171, 3, ENSP000003025644EBI-1386527,EBI-78035 I2D: score=3 STRING: ENSP00000302564
    BCL2P104153, ENSP000003296234I2D: score=3 STRING: ENSP00000329623
    SDHBP219123, ENSP000003646494I2D: score=1 STRING: ENSP00000364649
    UNC93B1Q9H1C43, ENSP000002274714I2D: score=1 STRING: ENSP00000227471
    USP19O949663, ENSP000003818634I2D: score=1 STRING: ENSP00000381863
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport ----
    GO:0006869lipid transport IEA--
    GO:0055085transmembrane transport IEA--

    Find genes that share ontologies with SPNS1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for SPNS1



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for SPNS1 gene (5 alternative transcripts): 
    NM_001142448.1  NM_001142449.1  NM_001142450.1  NM_001142451.1  NM_032038.2  

    Unigene Cluster for SPNS1:

    Spinster homolog 1 (Drosophila)
    Hs.617449  [show with all ESTs]
    Unigene Representative Sequence: AK095677
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000567771 ENST00000568388 ENST00000565975 ENST00000311008 ENST00000568900(uc002dry.2)
    ENST00000323081 ENST00000334536 ENST00000352260 ENST00000566059 ENST00000564476
    ENST00000561868 ENST00000568829
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat SPNS1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SPNS1 (see all 14):
    hsa-miR-142-3p hsa-miR-4300 hsa-miR-185* hsa-miR-187* hsa-miR-1283 hsa-miR-520d-5p hsa-miR-29a hsa-miR-29c
    SwitchGear 3'UTR luciferase reporter plasmidSPNS1 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for SPNS1
    Predesigned siRNA for gene silencing in human, mouse, rat SPNS1
    Clone
    Products:
         
    OriGene clones in human, mouse for SPNS1 (see all 30)
    OriGene ORF clones in mouse, rat for SPNS1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 5): SPNS1 (NM_001142448)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SPNS1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SPNS1
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for SPNS1
    OriGene qSTAR qPCR primer pairs in human, mouse for SPNS1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SPNS1
      QuantiTect SYBR Green Assays in human, mouse, rat SPNS1
      QuantiFast Probe-based Assays in human, mouse, rat SPNS1

    Additional mRNA sequence: 

    AF212371.1 AF370423.1 AK095677.1 AK289787.1 AL390215.1 BC006156.1 BC008325.1 BC038961.1 
    BC047741.1 BC065235.1 

    21 DOTS entries:

    DT.447886  DT.102843728  DT.102843702  DT.92442832  DT.100799766  DT.97821383  DT.92442826  DT.100799767 
    DT.120695442  DT.100799756  DT.120696548  DT.100033978  DT.100799754  DT.95165252  DT.120695431  DT.120695967 
    DT.95165250  DT.100843307  DT.75116538  DT.92442830  DT.95188558 

    Selected AceView cDNA sequences (see all 322):

    BM544359 AL524908 BQ651598 CR611391 CD671861 BM703511 BU193905 BU185783 
    BM708041 BU196793 BQ439640 AI203927 BM967132 BG473116 NM_032038 CD671956 
    CN483478 BQ073033 BI908409 AI677833 BM557621 BU163880 BM743837 CR591379 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for SPNS1 (see all 9)    About this scheme

    ExUns: 1 ^ 2a · 2b · 2c · 2d · 2e · 2f · 2g · 2h ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b · 13c
    SP1:                                -                                                                                                                           
    SP2:                                                                                                                                                            
    SP3:                                                                                                              -                                             
    SP4:        -     -     -     -     -     -                                                                                                                     
    SP5:                                      -                                                                                                                     


    ECgene alternative splicing isoforms for SPNS1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    SPNS1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGTAGCTCAG
    SPNS1 Expression
    About this image


    SPNS1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Hippocampus
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
    SPNS1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SPNS1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.617449
        Custom PCR Arrays for SPNS1
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for SPNS1
    OriGene qSTAR qPCR primer pairs in human, mouse for SPNS1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SPNS1
    QuantiTect SYBR Green Assays in human, mouse, rat SPNS1
    QuantiFast Probe-based Assays in human, mouse, rat SPNS1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPNS1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for SPNS1 gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Spns11 , 5 spinster homolog 1 (Drosophila)5
    spinster homolog 11
    87.88(n)1
    93.56(a)1
      7 (69.01 cM)5
    736581  NM_023712.31  NP_076201.21 
     1263700605 
    lizard
    (Anolis carolinensis)
    Reptilia SPNS16
    spinster homolog 1 (Drosophila)
    71(a)
    1 ↔ 1
    GL343287.1(620951-635877)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.166462 Xenopus laevis transcribed sequence with weak similarity more 76.56(n)    BJ072163.1 
    zebrafish
    (Danio rerio)
    Actinopterygii spinl2 spinster-like 75.67(n)   170963  BC048024.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta spin1 spinster 54.4(n)
    52.14(a)
      45380  NM_166144.1  NP_725530.1 
    worm
    (Caenorhabditis elegans)
    Secernentea C13C4.51 C13C4.5 45.99(n)
    42.73(a)
      179662  NM_073640.4  NP_506041.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT5G656871 AT5G65687 39.16(n)
    32.91(a)
      836697  NM_148164.4  NP_680469.1 


    ENSEMBL Gene Tree for SPNS1 (if available)
    TreeFam Gene Tree for SPNS1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SPNS1 gene
    SPNS32  SPNS22  
    2 SIMAP similar genes for SPNS1 using alignment to 7 protein entries:     SPNS1_HUMAN (see all proteins):
    SPNS2    SPNS3

    Find genes that share paralogs with SPNS1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    9 SNPs for SPNS1    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs753315531,2
    C--28985115(+) GGGGGG/CGGGGG 5 -- us2k11Minor allele frequency- C:0.50NA 2
    rs106006101,2
    C--28985119(+) GGGGG-/G/G   
       G
    /GGG
    TTAAA
    5 -- us2k11NA 2
    rs178559561,2,4
    ----see VAR_0351572 mis40--------
    rs1839462841,2
    ----28985120(+) GGGGGG/TGTTAA 5 -- us2k10--------
    rs58164781,2
    ----28985111(+) TGGGG-/GG/GGG
            
    GGGGG
    10 -- us2k1 cds10--------
    rs678939781,2
    ----28985113(+) GGGGG-/G/GGG 
            
    GGGGG
    10 -- us2k1 cds10--------
    rs3696845411,2
    ----28984624(+) AAATA-/AAAAAA 5 -- us2k10--------
    rs679958211,2
    ----28985110(+) ATGGG-/GG/GGG
            
    GGGGG
    10 -- us2k1 cds10--------
    rs793988081,2
    ----28985114(+) GGGGGG/CGGGGG 5 -- us2k11Minor allele frequency- C:0.50NA 2

    HapMap Linkage Disequilibrium report for SPNS1 (28985542 - 28995869 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for SPNS1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv518648CNV Loss19592680
    nsv519100CNV Gain19592680
    nsv457480CNV Gain19166990
    nsv905702CNV Gain+Loss21882294
    dgv842e1CNV Complex17122850

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SPNS1
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 612583    OMIM disorders: --


    Find genes that share disorders with SPNS1           About GenesLikeMe


    Export disorders for SPNS1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for SPNS1 gene, integrated from 10 sources (see all 16):
    (articles sorted by number of sources associating them with SPNS1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. HSpin1, a transmembrane protein interacting with Bcl-2/Bcl-xL, induces a caspase-independent autophagic cell death. (PubMed id 12815463)1, 2, 3 Yanagisawa H.... Yamamoto D. (Cell Death Differ. 2003)
    2. Mutations in the novel membrane protein spinster interfere with programmed cell death and cause neural degeneration in Drosophila melanogaster. (PubMed id 11340170)1, 2, 3 Nakano Y.... Yamamoto D. (Mol. Cell. Biol. 2001)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    4. Drafting the CLN3 protein interactome in SH-SY5Y human neuroblastoma cells: a label-free quantitative proteomics approach. (PubMed id 23464991)1 Scifo E....Lalowski M. (J. Proteome Res. 2013)
    5. Polymorphisms in sh2b1 and spns1 loci are associated with triglyceride levels in a healthy population in northern Sweden. (PubMed id 22942098)1 VAostermark A.8....SchiAPth H.B. (J. Genet. 2012)
    6. Mapping a dynamic innate immunity protein interaction network regulating type I interferon production. (PubMed id 21903422)1 Li S.... Dorf M.E. (Immunity 2011)
    7. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (Sci. Signal. 2011)
    8. Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach. (PubMed id 19413330)2 Gauci S....Mohammed S. (Anal. Chem. 2009)
    9. A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)2 Dephoure N.... Gygi S.P. (Proc. Natl. Acad. Sci. U.S.A. 2008)
    10. Integral and associated lysosomal membrane proteins. (PubMed id 17897319)1 Schroeder B.... Hasilik A. (Traffic 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 83985 HGNC: 30621 AceView: SPINL Ensembl:ENSG00000169682 euGenes: HUgn83985
    ECgene: SPNS1 H-InvDB: SPNS1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for SPNS1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for SPNS1 gene:
    Search GeneIP for patents involving SPNS1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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