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Aliases for SPNS1 Gene

Aliases for SPNS1 Gene

  • Sphingolipid Transporter 1 (Putative) 2 3 5
  • Spinster-Like Protein 1 3 4
  • HSpin1 3 4
  • SPIN1 3 4
  • SPNS Sphingolipid Transporter 1 (Putative) 3
  • Spinster Homolog 1 (Drosophila) 2
  • Protein Spinster Homolog 1 3
  • Spinster Homolog 1 3
  • PP2030 3
  • SPINL 3
  • LAT 3
  • Nrs 3

External Ids for SPNS1 Gene

Previous GeneCards Identifiers for SPNS1 Gene

  • GC16P028897
  • GC16P028986
  • GC16P026853

Summaries for SPNS1 Gene

GeneCards Summary for SPNS1 Gene

SPNS1 (Sphingolipid Transporter 1 (Putative)) is a Protein Coding gene. Diseases associated with SPNS1 include Chronic Maxillary Sinusitis. GO annotations related to this gene include transporter activity and sphingolipid transporter activity. An important paralog of this gene is SPNS3.

UniProtKB/Swiss-Prot for SPNS1 Gene

  • Sphingolipid transporter (By similarity). May be involved in necrotic or autophagic cell death.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SPNS1 Gene

Genomics for SPNS1 Gene

Regulatory Elements for SPNS1 Gene

Enhancers for SPNS1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH16F029011 1.2 Ensembl ENCODE 12.9 +39.0 38958 4.4 PKNOX1 ZNF121 FOS EGR2 SMARCA5 ZBTB11 CEBPB ZNF623 ZNF781 ZNF518A KIF22 LAT SPNS1 CDC37P1 ENSG00000251417 TUFM GC16M028992 NPIPB10P
GH16F029114 1.2 FANTOM5 Ensembl ENCODE 11.5 +143.1 143074 5.5 PKNOX1 ARID4B ZNF48 YY1 GLIS2 SP3 REST TBX21 ZNF623 MIER3 RRN3P2 LOC101928215 SPNS1 SLC7A5P1 ENSG00000260517 LOC100129184
GH16F029299 1 FANTOM5 Ensembl ENCODE 9.9 +326.4 326380 2.0 ELF3 SAP130 ETV1 CEBPG RAD21 RARA ZNF7 SLC30A9 ZFHX2 EGR2 ENSG00000260953 SPNS1 SNX29P2 C16orf54 LOC105371159
GH16F029317 1.1 FANTOM5 Ensembl ENCODE 9.1 +344.5 344492 2.5 CTCF ESRRA MAZ HLF FOXA3 TAL1 ZKSCAN1 ARID1B ZBTB33 SPNS1 CDC37P2 C16orf54 ENSG00000260413 PIR61520
GH16F029151 1.7 FANTOM5 Ensembl ENCODE 8.5 +182.1 182077 9.0 ELF3 RARA YY1 RCOR1 FOS CREM MIXL1 EGR2 THAP11 SMARCC1 LOC101928215 RRN3P2 SPNS1 CDC37P1 SULT1A1 SLX1B PIR38535 PIR33750
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around SPNS1 on UCSC Golden Path with GeneCards custom track

Promoters for SPNS1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000506084 579 2001 PKNOX1 CREB3L1 MLX ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SLC30A9

Genomic Location for SPNS1 Gene

Chromosome:
16
Start:
28,974,221 bp from pter
End:
28,984,762 bp from pter
Size:
10,542 bases
Orientation:
Plus strand

Genomic View for SPNS1 Gene

Genes around SPNS1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SPNS1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SPNS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SPNS1 Gene

Proteins for SPNS1 Gene

  • Protein details for SPNS1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H2V7-SPNS1_HUMAN
    Recommended name:
    Protein spinster homolog 1
    Protein Accession:
    Q9H2V7
    Secondary Accessions:
    • B5MDM9
    • Q6P182
    • Q71RB5
    • Q7L541
    • Q86VU7
    • Q8N953
    • Q8TCS5
    • Q9BRN5

    Protein attributes for SPNS1 Gene

    Size:
    528 amino acids
    Molecular mass:
    56630 Da
    Quaternary structure:
    • Interacts with BCL2 and BCL2L1.
    SequenceCaution:
    • Sequence=AAQ15259.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAQ15259.1; Type=Frameshift; Positions=97; Evidence={ECO:0000305};

    Alternative splice isoforms for SPNS1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SPNS1 Gene

Post-translational modifications for SPNS1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for SPNS1 Gene

Domains & Families for SPNS1 Gene

Protein Domains for SPNS1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SPNS1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9H2V7

UniProtKB/Swiss-Prot:

SPNS1_HUMAN :
  • Belongs to the major facilitator superfamily. Spinster (TC 2.A.1.49) family.
Family:
  • Belongs to the major facilitator superfamily. Spinster (TC 2.A.1.49) family.
genes like me logo Genes that share domains with SPNS1: view

No data available for Gene Families for SPNS1 Gene

Function for SPNS1 Gene

Molecular function for SPNS1 Gene

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

Gene Ontology (GO) - Molecular Function for SPNS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 12815463
GO:0046624 sphingolipid transporter activity IBA --
genes like me logo Genes that share ontologies with SPNS1: view
genes like me logo Genes that share phenotypes with SPNS1: view

Animal Models for SPNS1 Gene

MGI Knock Outs for SPNS1:

Animal Model Products

  • Taconic Biosciences Mouse Models for SPNS1

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SPNS1 Gene

Localization for SPNS1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SPNS1 Gene

Mitochondrion inner membrane; Multi-pass membrane protein. Note=Colocalizes with SDHB.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SPNS1 Gene COMPARTMENTS Subcellular localization image for SPNS1 gene
Compartment Confidence
lysosome 5
vacuole 5
mitochondrion 4
nucleus 4
plasma membrane 3
cytosol 2
golgi apparatus 2
peroxisome 2

Gene Ontology (GO) - Cellular Components for SPNS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005743 mitochondrial inner membrane IEA --
GO:0005765 lysosomal membrane IDA 17897319
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SPNS1: view

Pathways & Interactions for SPNS1 Gene

SuperPathways for SPNS1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SPNS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003376 sphingosine-1-phosphate signaling pathway IBA --
GO:0006810 transport IEA --
GO:0006869 lipid transport IEA --
GO:0040011 locomotion IBA --
GO:0055085 transmembrane transport IEA --
genes like me logo Genes that share ontologies with SPNS1: view

No data available for Pathways by source and SIGNOR curated interactions for SPNS1 Gene

Transcripts for SPNS1 Gene

Unigene Clusters for SPNS1 Gene

Spinster homolog 1 (Drosophila):
Representative Sequences:

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SPNS1 Gene

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: -
SP6: - - - - -
SP7: -
SP8: - - - - - - - -
SP9: -

Relevant External Links for SPNS1 Gene

GeneLoc Exon Structure for
SPNS1
ECgene alternative splicing isoforms for
SPNS1

Expression for SPNS1 Gene

mRNA expression in normal human tissues for SPNS1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SPNS1 Gene

This gene is overexpressed in Adrenal (13.0), Peripheral blood mononuclear cells (10.9), Monocytes (7.3), and Lung (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SPNS1 Gene



Protein tissue co-expression partners for SPNS1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SPNS1 Gene:

SPNS1

SOURCE GeneReport for Unigene cluster for SPNS1 Gene:

Hs.617449
genes like me logo Genes that share expression patterns with SPNS1: view

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for SPNS1 Gene

Orthologs for SPNS1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SPNS1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SPNS1 34 35
  • 99.81 (n)
dog
(Canis familiaris)
Mammalia SPNS1 34 35
  • 91.25 (n)
cow
(Bos Taurus)
Mammalia SPNS1 34 35
  • 91.04 (n)
mouse
(Mus musculus)
Mammalia Spns1 34 16 35
  • 87.88 (n)
rat
(Rattus norvegicus)
Mammalia Spns1 34
  • 87.75 (n)
oppossum
(Monodelphis domestica)
Mammalia SPNS1 35
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SPNS1 35
  • 82 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SPNS1 35
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia spns1 34
  • 69.92 (n)
Str.16886 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.16646 34
zebrafish
(Danio rerio)
Actinopterygii spns1 34 35
  • 64.81 (n)
spinl 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006346 34
  • 56.05 (n)
fruit fly
(Drosophila melanogaster)
Insecta spin 34 35
  • 54.4 (n)
worm
(Caenorhabditis elegans)
Secernentea C13C4.5 34
  • 45.99 (n)
spin-2 35
  • 38 (a)
ManyToMany
spin-1 35
  • 36 (a)
ManyToMany
spin-3 35
  • 36 (a)
ManyToMany
spin-4 35
  • 36 (a)
ManyToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G65687 34
  • 39.16 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5353 35
  • 33 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.12624 34
Species where no ortholog for SPNS1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SPNS1 Gene

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

Paralogs for SPNS1 Gene

Paralogs for SPNS1 Gene

(2) SIMAP similar genes for SPNS1 Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with SPNS1: view

Variants for SPNS1 Gene

Sequence variations from dbSNP and Humsavar for SPNS1 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs10451190 -- 28,977,495(+) GGCAG(C/T)AGGTG intron-variant
rs10600610 -- 28,973,798(+) GGGGG(-/GGG)TTAAA upstream-variant-2KB
rs111329935 -- 28,983,699(+) ACTTG(C/T)CTTTC intron-variant, upstream-variant-2KB
rs111955817 -- 28,982,518(+) GCCTG(C/T)GCCCG reference, synonymous-codon
rs111980348 -- 28,980,571(+) TAGAG(A/G)CCGGG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SPNS1 Gene

Variant ID Type Subtype PubMed ID
dgv2830n100 CNV gain 25217958
dgv2831n100 CNV gain 25217958
dgv4987n54 CNV gain 21841781
esv2758640 CNV gain+loss 17122850
esv3570454 CNV gain 25503493
esv3582129 CNV loss 25503493
esv3638351 CNV gain 21293372
esv3892826 CNV gain+loss 25118596
nsv1059555 CNV gain 25217958
nsv457480 CNV gain 19166990
nsv518648 CNV loss 19592680
nsv519100 CNV gain 19592680
nsv571805 CNV loss 21841781
nsv571808 CNV gain 21841781
nsv952964 CNV deletion 24416366

Variation tolerance for SPNS1 Gene

Residual Variation Intolerance Score: 25.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.33; 53.56% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SPNS1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SPNS1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SPNS1 Gene

Disorders for SPNS1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SPNS1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
chronic maxillary sinusitis
  • chronic antritis
- elite association - COSMIC cancer census association via MalaCards
Search SPNS1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for SPNS1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SPNS1
genes like me logo Genes that share disorders with SPNS1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SPNS1 Gene

Publications for SPNS1 Gene

  1. HSpin1, a transmembrane protein interacting with Bcl-2/Bcl-xL, induces a caspase-independent autophagic cell death. (PMID: 12815463) Yanagisawa H. … Yamamoto D. (Cell Death Differ. 2003) 2 3 4 64
  2. Mutations in the novel membrane protein spinster interfere with programmed cell death and cause neural degeneration in Drosophila melanogaster. (PMID: 11340170) Nakano Y. … Yamamoto D. (Mol. Cell. Biol. 2001) 2 3 4 64
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  4. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3 64
  5. N-terminome analysis of the human mitochondrial proteome. (PMID: 25944712) Vaca Jacome A.S. … Carapito C. (Proteomics 2015) 4 64

Products for SPNS1 Gene

Sources for SPNS1 Gene

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