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Aliases for SPNS1 Gene
Aliases for SPNS1 Gene
External Ids for SPNS1 Gene
- HGNC: 30621
- NCBI Entrez Gene: 83985
- Ensembl: ENSG00000169682
- OMIM®: 612583
- UniProtKB/Swiss-Prot: Q9H2V7
Previous GeneCards Identifiers for SPNS1 Gene
- GC16P028897
- GC16P028986
- GC16P026853
- GC16P028974
- GC16P029008
Summaries for SPNS1 Gene
GeneCards Summary for SPNS1 Gene
SPNS1 (Sphingolipid Transporter 1 (Putative)) is a Protein Coding gene. Diseases associated with SPNS1 include Ivic Syndrome and Koolen-De Vries Syndrome. Gene Ontology (GO) annotations related to this gene include transporter activity and sphingolipid transporter activity. An important paralog of this gene is SPNS2.
UniProtKB/Swiss-Prot Summary for SPNS1 Gene
-
Sphingolipid transporter (By similarity). May be involved in necrotic or autophagic cell death.
Additional gene information for SPNS1 Gene
- HGNC (30621)
- NCBI Entrez Gene (83985)
- Ensembl (ENSG00000169682)
- OMIM® (612583)
- UniProtKB/Swiss-Prot (Q9H2V7)
- Open Targets Platform(ENSG00000169682)
- Search for SPNS1 at DataMed
- Search for SPNS1 at HumanCyc
No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SPNS1 Gene
Genomics for SPNS1 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for SPNS1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around SPNS1 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SPNS1
- Top Transcription factor binding sites by QIAGEN in the SPNS1 gene promoter:
-
- AhR
- ATF-2
- c-Jun
- NF-kappaB
Genomic Locations for SPNS1 Gene
Latest Assembly
- chr16:28,973,999-28,984,769
- (GRCh38/hg38)
- Size:
- 10,771 bases
- Orientation:
- Plus strand
Previous Assembly
- chr16:28,986,099-28,995,864
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 9,766 bases
- Orientation:
- Plus strand
- chr16:28,985,542-28,995,869
- (GRCh37/hg19 by Ensembl)
- Size:
- 10,328 bases
- Orientation:
- Plus strand
Genomic View for SPNS1 Gene
Genes around SPNS1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 16p11.2 by HGNC
- 16p11.2 by Entrez Gene
- 16p11.2 by Ensembl
SPNS1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAQ15259.1; Type=Frameshift; Evidence={ECO:0000305};
Protein Expression for SPNS1 Gene
Post-translational modifications for SPNS1 Gene
Other Protein References for SPNS1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
-
Custom Antibody ServicesOriGene Antibodies for SPNS1
- Novus Biologicals Antibodies for SPNS1
- Invitrogen Antibodies for SPNS1 (AFLGC-SPNS1)
-
Boster Bio Antibodies for SPNS1
-
Custom Antibody ServicesProSci Antibodies for SPNS1
Protein products for research
- Search Origene for MassSpec and Protein Over-expression Lysates for SPNS1
- Origene Custom Protein Services for SPNS1
- antibodies-online: Show 4 available SPNS1 Proteins ranked by validation data
- Compare Top SPNS1 Proteins
-
Quality Products:
Assay products for research
No data available for DME Specific Peptides for SPNS1 Gene
Domains & Families for SPNS1 Gene
Gene Families for SPNS1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted membrane proteins
- Transporters
Protein Domains for SPNS1 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for SPNS1 Gene
- GenScript: Design optimal peptide antigens:
-
- Spinster-like protein 1 (SPNS1_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q9H2V7UniProtKB/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.
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.
Phenotypes From GWAS Catalog for SPNS1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 12815463 |
| GO:0022857 | transmembrane transporter activity | IEA | -- |
Phenotypes for SPNS1 Gene
- MGI mutant phenotypes for SPNS1:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for SPNS1:
Animal Models for SPNS1 Gene
- MGI Knock Outs for SPNS1:
-
- Spns1 Spns1<tm1a(EUCOMM)Wtsi>
Animal Models for research
-
Taconic Biosciences Mouse Models for SPNS1
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for SPNS1 - Starting at $85 >
- * SPNS1 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for SPNS1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SPNS1
-
Santa Cruz Biotechnology (SCBT) CRISPR for SPNS1
miRNA for SPNS1 Gene
- miRTarBase miRNAs that target SPNS1
-
- hsa-miR-1227-3p (MIRT036406)
- hsa-miR-503-5p (MIRT041120)
- hsa-miR-4775 (MIRT467278)
- hsa-miR-5696 (MIRT467279)
- hsa-miR-4735-5p (MIRT467280)
- hsa-miR-4729 (MIRT467281)
- hsa-miR-590-3p (MIRT467282)
- hsa-miR-8066 (MIRT467283)
- hsa-miR-3662 (MIRT467284)
- hsa-miR-6770-3p (MIRT467285)
- hsa-miR-6734-5p (MIRT467286)
- hsa-miR-4710 (MIRT467287)
- hsa-miR-625-5p (MIRT467288)
- hsa-miR-4467 (MIRT467289)
- hsa-miR-6820-5p (MIRT467290)
- hsa-miR-6738-5p (MIRT467291)
- hsa-miR-5194 (MIRT467292)
- hsa-miR-1914-3p (MIRT467293)
- hsa-miR-423-5p (MIRT467294)
- hsa-miR-3184-5p (MIRT467295)
- hsa-miR-6794-5p (MIRT467296)
- hsa-miR-4716-3p (MIRT467297)
- hsa-miR-3156-5p (MIRT467298)
- hsa-miR-522-3p (MIRT467299)
- hsa-miR-224-3p (MIRT467300)
- hsa-miR-5006-3p (MIRT645353)
- hsa-miR-4446-5p (MIRT645354)
- hsa-miR-4755-5p (MIRT645355)
- hsa-miR-211-5p (MIRT645356)
- hsa-miR-204-5p (MIRT645357)
- hsa-miR-623 (MIRT645358)
- hsa-miR-642a-5p (MIRT645359)
- hsa-miR-6734-3p (MIRT645360)
- hsa-miR-6832-3p (MIRT645361)
- hsa-miR-5688 (MIRT645362)
- hsa-miR-495-3p (MIRT645363)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SPNS1
- Browse OriGene Inhibitory RNA Products For SPNS1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SPNS1
Clone products for research
- Applied Biological Materials (abm): Clones for SPNS1 - Starting at $45 >
- * SPNS1 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
-
- MG208465
- MR208465
- MR208465L3
- MR208465L4
- RC203567
- RC203567L3
- RC203567L4
- RC227635
- RC227635L1
- RC227635L2
- RC227635L3
- RC227635L4
- RC227641
- RC227641L3
- RC227641L4
- RC227643
- RC227643L3
- RC227643L4
- RC227649
- RC227649L3
- RC227649L4
- RG203567
- RG227635
- RG227641
- RG227643
- RG227649
- RR205655
- RR205655L3
- RR205655L4
- MR208465L3V
- MR208465L4V
- RC203567L3V
- RC203567L4V
- RC227635L1V
- RC227635L2V
- RC227635L3V
- RC227635L4V
- RC227641L3V
- RC227641L4V
- RC227643L3V
- RC227643L4V
- RC227649L3V
- RC227649L4V
- RR205655L3V
- RR205655L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for SPNS1
- Addgene plasmids for SPNS1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SPNS1
Cell Lines for research
-
Horizon Cell Lines for SPNS1
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.
| Compartment | Confidence |
|---|---|
| lysosome | 4 |
| plasma membrane | 3 |
| mitochondrion | 3 |
| nucleus | 2 |
| cytosol | 2 |
| extracellular | 1 |
| cytoskeleton | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| golgi apparatus | 1 |
| peroxisome | 0 |
- Vesicles (2)
- Cytosol (1)
- Golgi apparatus (1)
- Nucleoli fibrillar center (1)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005739 | mitochondrion | IEA | -- |
| GO:0005743 | mitochondrial inner membrane | IEA | -- |
| GO:0005765 | lysosomal membrane | HDA | 17897319 |
| GO:0016020 | membrane | IEA | -- |
| GO:0016021 | integral component of membrane | IEA | -- |
Pathways & Interactions for SPNS1 Gene
Interacting Proteins for SPNS1 Gene
Selected Interacting proteins:
Q9H2V7-SPNS1_HUMAN
ENSP00000309945
for SPNS1 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for SPNS1
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006869 | lipid transport | IEA | -- |
| GO:0055085 | transmembrane transport | IEA | -- |
No data available for Pathways by source and SIGNOR curated interactions for SPNS1 Gene
Transcripts for SPNS1 Gene
mRNA/cDNA for SPNS1 Gene
- 5 REFSEQ mRNAs :
- 13 NCBI additional mRNA sequence :
- 12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000311008 2205 nts (view in UCSC)
- ENST00000323081 2102 nts (view in UCSC)
- ENST00000334536 2027 nts (view in UCSC)
- ENST00000352260 1948 nts (view in UCSC)
- ENST00000561868 441 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for SPNS1 - Starting at $85 >
- * SPNS1 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for SPNS1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SPNS1
-
Santa Cruz Biotechnology (SCBT) CRISPR for SPNS1
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SPNS1
- Browse OriGene Inhibitory RNA Products For SPNS1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SPNS1
Clone products for research
- Applied Biological Materials (abm): Clones for SPNS1 - Starting at $45 >
- * SPNS1 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
-
- MG208465
- MR208465
- MR208465L3
- MR208465L4
- RC203567
- RC203567L3
- RC203567L4
- RC227635
- RC227635L1
- RC227635L2
- RC227635L3
- RC227635L4
- RC227641
- RC227641L3
- RC227641L4
- RC227643
- RC227643L3
- RC227643L4
- RC227649
- RC227649L3
- RC227649L4
- RG203567
- RG227635
- RG227641
- RG227643
- RG227649
- RR205655
- RR205655L3
- RR205655L4
- MR208465L3V
- MR208465L4V
- RC203567L3V
- RC203567L4V
- RC227635L1V
- RC227635L2V
- RC227635L3V
- RC227635L4V
- RC227641L3V
- RC227641L4V
- RC227643L3V
- RC227643L4V
- RC227649L3V
- RC227649L4V
- RR205655L3V
- RR205655L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for SPNS1
- Addgene plasmids for SPNS1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SPNS1
| 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
Expression for SPNS1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
-
Testis (Reproductive System)
- Leydig Cells Testis Interstitium
-
Liver (Hepatobiliary System)
- Hepatocytes Liver Lobule
- Thyroid (Endocrine System)
- Intestine (Gastrointestinal Tract)
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 and MOPED for SPNS1 Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SPNS1
SOURCE GeneReport for Unigene cluster for SPNS1 Gene:
Hs.617449Evidence on tissue expression from TISSUES for SPNS1 Gene
- Nervous system(4.8)
- Skin(4.6)
- Blood(4.6)
- Pancreas(4.4)
- Eye(3)
- Lung(2.3)
Primer products for research
-
OriGene qPCR primer pairs for SPNS1
-
OriGene qPCR primer pairs and template standards for SPNS1
Gene Expression Assays for research
No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SPNS1 Gene
Orthologs for SPNS1 Gene
This gene was present in the common ancestor of eukaryotes.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | SPNS1 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | SPNS1 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | SPNS1 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Spns1 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Spns1 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | SPNS1 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | SPNS1 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | SPNS1 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | spns1 30 |
|
||
| Str.16886 30 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.16646 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | spns1 30 31 |
|
OneToOne | |
| spinl 30 |
|
||||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP006346 30 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | spin 30 31 |
|
OneToMany | |
| Worm (Caenorhabditis elegans) |
Secernentea | C13C4.5 30 |
|
||
| spin-2 31 |
|
ManyToMany | |||
| spin-1 31 |
|
ManyToMany | |||
| spin-3 31 |
|
ManyToMany | |||
| spin-4 31 |
|
ManyToMany | |||
| Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT5G65687 30 |
|
||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.5353 31 |
|
OneToMany | |
| Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.12624 30 |
|
- Species where no ortholog for SPNS1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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)
- Aminode:
- Evolutionary constrained regions (ECRs) for SPNS1: view image
Paralogs for SPNS1 Gene
Variants for SPNS1 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SPNS1 Gene
| SNP ID | Clinical significance and condition | Chr 16 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs113165798 | Benign: not provided | 28,983,890(+) |
C/T NM_032038.3(SPNS1):c.1425C>T (p.Gly475=) |
SYNONYMOUS | |
| rs17855956 | - |
p.Ala230Pro |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| 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 |
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)
Additional Variant Information for SPNS1 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- SPNS1
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SPNS1 Gene
Disorders for SPNS1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| ivic syndrome |
|
|
| koolen-de vries syndrome |
|
|
Search SPNS1 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for SPNS1
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for SPNS1 Gene
Publications for SPNS1 Gene
- 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 and differentiation 2003) 2 3 4
- 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 (Molecular and cellular biology 2001) 2 3 4
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
- Systematic mapping of genetic interactions for de novo fatty acid synthesis identifies C12orf49 as a regulator of lipid metabolism. (PMID: 32694731) Aregger M … Moffat J (Nature metabolism 2020) 3
- A trimeric Rab7 GEF controls NPC1-dependent lysosomal cholesterol export. (PMID: 33144569) van den Boomen DJH … Lehner PJ (Nature communications 2020) 3
ExternalLinks
Products for SPNS1 Gene
- Custom Antibody ServicesOriGene Antibodies for SPNS1
- Browse OriGene ELISA Kits
- Custom Assay Services
- Search Origene for MassSpec and Protein Over-expression Lysates for SPNS1
- Origene Custom Protein Services for SPNS1
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SPNS1
- Browse OriGene Inhibitory RNA Products For SPNS1
- OriGene qPCR primer pairs for SPNS1
- OriGene qPCR primer pairs and template standards for SPNS1
- OriGene CRISPR knockouts for SPNS1
- MG208465
- MR208465
- MR208465L3
- MR208465L4
- RC203567
- RC203567L3
- RC203567L4
- RC227635
- RC227635L1
- RC227635L2
- RC227635L3
- RC227635L4
- RC227641
- RC227641L3
- RC227641L4
- RC227643
- RC227643L3
- RC227643L4
- RC227649
- RC227649L3
- RC227649L4
- RG203567
- RG227635
- RG227641
- RG227643
- RG227649
- RR205655
- RR205655L3
- RR205655L4
- MR208465L3V
- MR208465L4V
- RC203567L3V
- RC203567L4V
- RC227635L1V
- RC227635L2V
- RC227635L3V
- RC227635L4V
- RC227641L3V
- RC227641L4V
- RC227643L3V
- RC227643L4V
- RC227649L3V
- RC227649L4V
- RR205655L3V
- RR205655L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For SPNS1
- Sino Biological Human cDNA Clone for SPNS1
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for SPNS1
- Novus Biologicals proteins and lysates for SPNS1
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Taconic Biosciences Mouse Models for SPNS1
- Find your next knockout model in the Taconic Knockout Repository
- Genetically Engineered Models Available Immediately
- Humanized Mice
- Invitrogen Antibodies for SPNS1 (AFLGC-SPNS1)
- VectorBuilder Custom and pre-made DNA vectors for SPNS1 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for SPNS1 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for SPNS1 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for SPNS1 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for SPNS1
- Addgene plasmids for SPNS1
- antibodies-online: Show 7 available SPNS1 Antibodies ranked by validation data
- Compare Top SPNS1 Antibodies
- antibodies-online: Search results for available SPNS1 related products ranked by validation data
- antibodies-online: Show 4 available SPNS1 Proteins ranked by validation data
- Compare Top SPNS1 Proteins
- Quality Products:
- Custom Antibody ServicesProSci Antibodies for SPNS1
- Search for SPNS1 Proteins at ProSci
- Horizon Cell Lines for SPNS1
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SPNS1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SPNS1
- Search GeneCopoeia for miRNA 3'UTR Target clone products for SPNS1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SPNS1
- Boster Bio Antibodies for SPNS1
- Browse Boster Bio ELISA Kits
Sources for SPNS1 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM® (Updated: 05-Mar-2021)
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) MedlinePlus Genetics
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNAcentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Open Targets Platform
- (175) 5SRRNADB
- (176) snoDB
- (177) MirGeneDB