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Aliases for SPNS1 Gene

Aliases for SPNS1 Gene

  • Spinster Homolog 1 (Drosophila) 2 3 5
  • Spinster-Like Protein 1 3 4
  • HSpin1 3 4
  • SPIN1 3 4
  • 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 (Spinster Homolog 1 (Drosophila)) 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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

ENSRs around SPNS1 on UCSC Golden Path with GeneCards custom track

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

Proteomics data for SPNS1 Gene at MOPED

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.
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

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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:0005765 lysosomal membrane IDA 17897319
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: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

Drugs & Compounds for SPNS1 Gene

No Compound Related Data Available

Transcripts for SPNS1 Gene

Unigene Clusters for SPNS1 Gene

Spinster homolog 1 (Drosophila):
Representative Sequences:

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



SOURCE GeneReport for Unigene cluster for SPNS1 Gene Hs.617449

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

Protein tissue co-expression partners for SPNS1 Gene

- Elite partner

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
cow
(Bos Taurus)
Mammalia SPNS1 35
  • 91.04 (n)
  • 94.13 (a)
SPNS1 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SPNS1 35
  • 91.25 (n)
  • 95.75 (a)
SPNS1 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Spns1 35
  • 87.88 (n)
  • 93.56 (a)
Spns1 16
Spns1 36
  • 94 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SPNS1 35
  • 99.81 (n)
  • 99.81 (a)
SPNS1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Spns1 35
  • 87.75 (n)
  • 93.37 (a)
oppossum
(Monodelphis domestica)
Mammalia SPNS1 36
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SPNS1 36
  • 82 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SPNS1 36
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia spns1 35
  • 69.92 (n)
  • 70.93 (a)
Str.16886 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.16646 35
zebrafish
(Danio rerio)
Actinopterygii spinl 35
spns1 35
  • 64.81 (n)
  • 68.39 (a)
spns1 36
  • 66 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006346 35
  • 56.05 (n)
  • 50.78 (a)
fruit fly
(Drosophila melanogaster)
Insecta spin 35
  • 54.4 (n)
  • 52.14 (a)
spin 36
  • 38 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea C13C4.5 35
  • 45.99 (n)
  • 42.73 (a)
spin-1 36
  • 36 (a)
ManyToMany
spin-2 36
  • 38 (a)
ManyToMany
spin-3 36
  • 36 (a)
ManyToMany
spin-4 36
  • 36 (a)
ManyToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G65687 35
  • 39.16 (n)
  • 32.91 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.12624 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5353 36
  • 33 (a)
OneToMany
Species with no ortholog for SPNS1:
  • 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
VAR_035157 -

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

Variant ID Type Subtype PubMed ID
dgv842e1 CNV Complex 17122850
nsv905702 CNV Gain+Loss 21882294
nsv518648 CNV Loss 19592680
nsv519100 CNV Gain 19592680
nsv457480 CNV Gain 19166990

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)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links 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 67
  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
  3. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3
  4. Common genetic variants associated with cognitive performance identified using the proxy-phenotype method. (PMID: 25201988) Rietveld C.A. … Koellinger P.D. (Proc. Natl. Acad. Sci. U.S.A. 2014) 3
  5. Drafting the CLN3 protein interactome in SH-SY5Y human neuroblastoma cells: a label-free quantitative proteomics approach. (PMID: 23464991) Scifo E. … Lalowski M. (J. Proteome Res. 2013) 3

Products for SPNS1 Gene

Sources for SPNS1 Gene

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