Free for academic non-profit institutions. Other users need a Commercial license
Aliases for SPNS1 Gene
Aliases for SPNS1 Gene
External Ids for SPNS1 Gene
- HGNC: 30621
- Entrez Gene: 83985
- Ensembl: ENSG00000169682
- OMIM: 612583
- UniProtKB: Q9H2V7
Previous GeneCards Identifiers for SPNS1 Gene
- GC16P028897
- GC16P028986
- GC16P026853
- GC16P028974
Summaries for SPNS1 Gene
GeneCards Summary for SPNS1 Gene
SPNS1 (Sphingolipid Transporter 1 (Putative)) is a Protein Coding gene. Diseases associated with SPNS1 include Amelogenesis Imperfecta, Type Ig and 46,Xy Sex Reversal 2. 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)
- Entrez Gene(83985)
- Ensembl(ENSG00000169682)
- OMIM(612583)
- UniProtKB(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
Genomic Locations for SPNS1 Gene
- chr16:28,973,999-28,984,769
- (GRCh38/hg38)
- Size:
- 10,771 bases
- Orientation:
- Plus strand
- chr16:28,985,542-28,995,869
- (GRCh37/hg19)
- 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:
Antibody Products
-
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
- 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
-
Signalway ELISA kits for SPNS1
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 Model Products
-
Taconic Biosciences Mouse Models for SPNS1
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for SPNS1 - Select products 50% OFF >
- * SPNS1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
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
Inhibitory RNA Products
- 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
- Applied Biological Materials (abm): Clones for SPNS1 - Select products 50% OFF >
- * SPNS1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- 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 Line Products
-
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 |
|---|---|
| plasma membrane | 4 |
| mitochondrion | 4 |
| nucleus | 4 |
| lysosome | 4 |
| peroxisome | 3 |
| cytosol | 3 |
| extracellular | 2 |
| cytoskeleton | 2 |
| endoplasmic reticulum | 2 |
| golgi apparatus | 2 |
| endosome | 1 |
- 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
- Applied Biological Materials (abm): CRISPR Clones for SPNS1 - Select products 50% OFF >
- * SPNS1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
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
Inhibitory RNA Products
- 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
- Applied Biological Materials (abm): Clones for SPNS1 - Select products 50% OFF >
- * SPNS1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- 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(4.7)
- Blood(4.7)
- Pancreas(4.6)
- Eye(3.4)
- Liver(3.2)
- Lung(3.1)
- Thyroid gland(3)
- Kidney(3)
- Muscle(2.8)
- Intestine(2.8)
- Adrenal gland(2.6)
- Heart(2.5)
- Spleen(2.4)
- Gall bladder(2.3)
- Lymph node(2.2)
- Bone marrow(2.2)
- Stomach(2.1)
Primer Products
-
OriGene qPCR primer pairs for SPNS1
-
OriGene qPCR primer pairs and template standards for SPNS1
Gene Expression Assay Products
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 |
|---|---|---|---|---|---|
| 775042 | Benign: not provided | 28,983,890(+) | C/T | SYNONYMOUS_VARIANT | |
| rs17855956 | - | p.Ala230Pro |
| 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 Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SPNS1 Gene
Disorders for SPNS1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| amelogenesis imperfecta, type ig |
|
|
| 46,xy sex reversal 2 |
|
|
| glycogen storage disease ia |
|
|
| teeth hard tissue disease |
|
|
| amelogenesis imperfecta |
|
|
Search SPNS1 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for SPNS1
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
- Rewiring of the Human Mitochondrial Interactome during Neuronal Reprogramming Reveals Regulators of the Respirasome and Neurogenesis. (PMID: 31536960) Moutaoufik MT … Babu M (iScience 2019) 3
- PLEKHA4/kramer Attenuates Dishevelled Ubiquitination to Modulate Wnt and Planar Cell Polarity Signaling. (PMID: 31091453) Shami Shah A … Baskin JM (Cell reports 2019) 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 cDNA Clones
- 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
- Signalway ELISA kits for SPNS1
Sources for SPNS1 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (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) Genetics Home Reference
- (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) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB