Aliases for SPPL3 Gene
Aliases for SPPL3 Gene
External Ids for SPPL3 Gene
- HGNC: 30424
- Entrez Gene: 121665
- Ensembl: ENSG00000157837
- OMIM: 608240
- UniProtKB: Q8TCT6
Previous GeneCards Identifiers for SPPL3 Gene
- GC12P119943
- GC12M120799
- GC12M120983
- GC12M119612
- GC12M119663
- GC12M121201
- GC12M118210
- GC12M121202
- GC12M121210
- GC12M121231
- GC12M121252
- GC12M120801
- GC12M120819
- GC12M120840
- GC12M120862
Summaries for SPPL3 Gene
GeneCards Summary for SPPL3 Gene
SPPL3 (Signal Peptide Peptidase Like 3) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and aspartic endopeptidase activity, intramembrane cleaving. An important paralog of this gene is SPPL2B.
UniProtKB/Swiss-Prot for SPPL3 Gene
-
Intramembrane-cleaving aspartic protease (I-CLiP) that cleaves type II membrane protein substrates in or close to their luminal transmembrane domain boundaries (PubMed:16873890, PubMed:25354954, PubMed:25827571). Acts like a sheddase by mediating the proteolytic release and secretion of active site-containing ectodomains of glycan-modifiying glycosidase and glycosyltransferase enzymes such as MGAT5, B4GAT1 and B4GALT1 (PubMed:25354954, PubMed:25827571). Catalyzes the intramembrane cleavage of the envelope glycoprotein gp130 and/or the leader peptide gp18LP of the simian foamy virus independent of prior ectodomain shedding by furin or furin-like proprotein convertase (PC)-mediated cleavage proteolysis (PubMed:23132852). May also have the ability to serve as a shedding protease for subsequent intramembrane proteolysis by SPPL2A and SPPL2B of the envelope glycoprotein gp130 (PubMed:23132852). Plays a role in the regulation of cellular glycosylation processes (PubMed:25354954). Required to link T-cell antigen receptor (TCR) and calcineurin-NFAT signaling cascades in lymphocytes by promoting the association of STIM1 and ORAI1 during store-operated calcium entry (SOCE) in a protease-independent manner (PubMed:25384971).
Additional gene information for SPPL3 Gene
- Monarch Initiative
- Search for SPPL3 at DataMed
- Search for SPPL3 at HumanCyc
No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SPPL3 Gene
Genomics for SPPL3 Gene
GeneHancer (GH) Regulatory Elements for SPPL3 Gene
Promoters and enhancers for SPPL3 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around SPPL3 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Locations for SPPL3 Gene
Genomic Locations for SPPL3 Gene
- chr12:120,762,510-120,904,371
- (GRCh38/hg38)
- Size:
- 141,862 bases
- Orientation:
- Minus strand
- chr12:121,200,313-121,342,174
- (GRCh37/hg19)
Genomic View for SPPL3 Gene
Genes around SPPL3 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 12q24.31 by Ensembl
- 12q24.31 by Entrez Gene
- 12q24.31 by HGNC
SPPL3 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 SPPL3 Gene
Proteins for SPPL3 Gene
-
Protein details for SPPL3 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q8TCT6-SPPL3_HUMAN
- Recommended name:
- Signal peptide peptidase-like 3
- Protein Accession:
- Q8TCT6
- Q3MJ04
- Q8TAU4
- Q96DD9
Protein attributes for SPPL3 Gene
- Size:
- 385 amino acids
- Molecular mass:
- 42563 Da
- Quaternary structure:
-
- Monomer (PubMed:15385547, PubMed:15998642, PubMed:16873890). Homodimer (PubMed:15385547, PubMed:15998642, PubMed:16873890). Interacts with STIM1 (via the transmembrane region and the SOAR/CAD domain); the interaction promotes the binding of STIM1 to ORAI1 (PubMed:25384971). Interacts with the simian foamy virus envelope glycoprotein gp130 and its processed leader peptide gp18LP; preferentially interacts with the envelope glycoprotein gp130 (PubMed:23132852).
- SequenceCaution:
-
- Sequence=BAC11290.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
Protein Expression for SPPL3 Gene
Post-translational modifications for SPPL3 Gene
- Not glycosylated (PubMed:15385547, PubMed:15998642).
Other Protein References for SPPL3 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for SPPL3
- Novus Biologicals Antibodies for SPPL3
- Invitrogen Antibodies for SPPL3
- GeneTex SPPL3 antibody for SPPL3
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for SPPL3
- Origene Custom Protein Services for SPPL3
- Novus Biologicals proteins for SPPL3
- Search GeneTex for Proteins for SPPL3
-
Abcam proteins for SPPL3
Assay Products
No data available for DME Specific Peptides for SPPL3 Gene
Domains & Families for SPPL3 Gene
Gene Families for SPPL3 Gene
- Human Protein Atlas (HPA):
-
- Enzymes
- Predicted membrane proteins
Protein Domains for SPPL3 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for SPPL3 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q8TCT6UniProtKB/Swiss-Prot:
SPPL3_HUMAN :- The first transmembrane domain may act as a type I signal anchor (PubMed:15385547). The catalytic loops is exposed toward the lumen (PubMed:15385547). The PAL motif is required for normal active site conformation. The catalytic domains embedded in the membrane are in the opposite orientation to that of the presenilin protein family (By similarity).
- Belongs to the peptidase A22B family.
- Domain:
-
- The first transmembrane domain may act as a type I signal anchor (PubMed:15385547). The catalytic loops is exposed toward the lumen (PubMed:15385547). The PAL motif is required for normal active site conformation. The catalytic domains embedded in the membrane are in the opposite orientation to that of the presenilin protein family (By similarity).
- Family:
-
- Belongs to the peptidase A22B family.
Function for SPPL3 Gene
Molecular function for SPPL3 Gene
- UniProtKB/Swiss-Prot EnzymeRegulation:
- Its proteolytic activity is blocked by a signal peptide peptidase (SPP) inhibitor, (ZLL)2-ketone (ZLL) or a gamma-secretase inhibitor, LY411,575 (PubMed:16873890). However, is not inhibited by ZLL and LY411,575 for activity on simian foamy virus envelope glycoprotein gp130 (PubMed:23132852).
- UniProtKB/Swiss-Prot Function:
- Intramembrane-cleaving aspartic protease (I-CLiP) that cleaves type II membrane protein substrates in or close to their luminal transmembrane domain boundaries (PubMed:16873890, PubMed:25354954, PubMed:25827571). Acts like a sheddase by mediating the proteolytic release and secretion of active site-containing ectodomains of glycan-modifiying glycosidase and glycosyltransferase enzymes such as MGAT5, B4GAT1 and B4GALT1 (PubMed:25354954, PubMed:25827571). Catalyzes the intramembrane cleavage of the envelope glycoprotein gp130 and/or the leader peptide gp18LP of the simian foamy virus independent of prior ectodomain shedding by furin or furin-like proprotein convertase (PC)-mediated cleavage proteolysis (PubMed:23132852). May also have the ability to serve as a shedding protease for subsequent intramembrane proteolysis by SPPL2A and SPPL2B of the envelope glycoprotein gp130 (PubMed:23132852). Plays a role in the regulation of cellular glycosylation processes (PubMed:25354954). Required to link T-cell antigen receptor (TCR) and calcineurin-NFAT signaling cascades in lymphocytes by promoting the association of STIM1 and ORAI1 during store-operated calcium entry (SOCE) in a protease-independent manner (PubMed:25384971).
Enzyme Numbers (IUBMB) for SPPL3 Gene
Phenotypes From GWAS Catalog for SPPL3 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 2313285 |
| GO:0008233 | peptidase activity | IEA | -- |
| GO:0016787 | hydrolase activity | IEA | -- |
| GO:0042500 | aspartic endopeptidase activity, intramembrane cleaving | IMP | 16873890 |
| GO:0042803 | protein homodimerization activity | IDA | 15385547 |
Phenotypes for SPPL3 Gene
- MGI mutant phenotypes for SPPL3:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for SPPL3:
Animal Model Products
-
Taconic Biosciences Mouse Models for SPPL3
- Cyagen custom Knockout/knockin (KOKI) mouse models for SPPL3
-
-
ViGene Biosciences lentiviral particle packaged cDNA for SPPL3 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for SPPL3 gene
- Search ViGene Biosciences for SPPL3
CRISPR Products
-
OriGene CRISPR knockouts for SPPL3
- genomics-online: gRNA clones - Search results for 62 available SPPL3 gene related products
- Overview of 62 available SPPL3 gene related products
- Applied Biological Materials CRISPR for SPPL3
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for SPPL3
- GenScript: Design CRISPR guide RNA sequences for SPPL3
miRNA for SPPL3 Gene
- miRTarBase miRNAs that target SPPL3
-
- hsa-mir-190a-3p (MIRT112592)
- hsa-mir-5011-5p (MIRT112596)
- hsa-mir-568 (MIRT335505)
- hsa-mir-21-5p (MIRT439550)
- hsa-mir-653-3p (MIRT495401)
- hsa-mir-4420 (MIRT495402)
- hsa-mir-181b-3p (MIRT495403)
- hsa-mir-181b-2-3p (MIRT495404)
- hsa-mir-6886-3p (MIRT495405)
- hsa-mir-5189-3p (MIRT495406)
- hsa-mir-938 (MIRT495407)
- hsa-mir-6780b-3p (MIRT495408)
- hsa-mir-6890-3p (MIRT495409)
- hsa-mir-6809-5p (MIRT534085)
- hsa-mir-3613-3p (MIRT534086)
- hsa-mir-605-5p (MIRT534087)
- hsa-mir-4455 (MIRT544529)
- hsa-mir-6083 (MIRT544530)
- hsa-mir-1277-5p (MIRT544531)
- hsa-mir-3924 (MIRT544532)
- hsa-mir-511-3p (MIRT544533)
- hsa-mir-6867-5p (MIRT544534)
- hsa-mir-5007-3p (MIRT551017)
- hsa-mir-664a-3p (MIRT551018)
- hsa-mir-3163 (MIRT551019)
- hsa-mir-1537-3p (MIRT551020)
- hsa-mir-548ay-3p (MIRT551021)
- hsa-mir-548at-3p (MIRT551022)
- hsa-mir-548x-3p (MIRT551023)
- hsa-mir-548j-3p (MIRT551024)
- hsa-mir-548aq-3p (MIRT551025)
- hsa-mir-548am-3p (MIRT551026)
- hsa-mir-548aj-3p (MIRT551027)
- hsa-mir-548ah-3p (MIRT551028)
- hsa-mir-548ae-3p (MIRT551029)
- hsa-mir-548z (MIRT551030)
- hsa-mir-548h-3p (MIRT551031)
- hsa-mir-548d-3p (MIRT551032)
- hsa-mir-548bb-3p (MIRT551033)
- hsa-mir-548ac (MIRT551034)
- hsa-mir-3591-5p (MIRT653167)
- hsa-mir-335-3p (MIRT653168)
- hsa-mir-4639-5p (MIRT653169)
- hsa-mir-4775 (MIRT653170)
- hsa-mir-4735-5p (MIRT653171)
- hsa-mir-5196-3p (MIRT653172)
- hsa-mir-4793-5p (MIRT653173)
- hsa-mir-501-5p (MIRT653174)
- hsa-mir-4255 (MIRT653175)
- hsa-mir-590-3p (MIRT653176)
- hsa-mir-142-3p (MIRT653177)
- hsa-mir-1303 (MIRT671942)
- hsa-mir-5096 (MIRT671943)
- hsa-mir-6848-3p (MIRT671944)
- hsa-mir-6843-3p (MIRT671945)
- hsa-mir-3187-3p (MIRT671946)
- hsa-mir-4435 (MIRT671947)
- hsa-mir-588 (MIRT671948)
- hsa-mir-4701-5p (MIRT671949)
- hsa-mir-548s (MIRT671950)
- hsa-mir-516a-5p (MIRT671951)
- hsa-mir-197-3p (MIRT671952)
- hsa-mir-193b-5p (MIRT671953)
- hsa-mir-6131 (MIRT671954)
- hsa-mir-4755-3p (MIRT671955)
- hsa-mir-3663-5p (MIRT671956)
- hsa-mir-150-5p (MIRT671957)
- hsa-mir-4716-5p (MIRT671958)
- hsa-mir-4781-3p (MIRT671959)
- hsa-mir-483-5p (MIRT671960)
- hsa-mir-4762-3p (MIRT698901)
- hsa-mir-4303 (MIRT698902)
- hsa-mir-1911-5p (MIRT698903)
- hsa-mir-4682 (MIRT698904)
- hsa-mir-624-5p (MIRT698905)
- hsa-mir-6768-5p (MIRT698906)
miRNA Products
- Search ViGene Biosciences for SPPL3
Inhibitory RNA Products
- Origene RNAi and shrna products in human, mouse, rat for SPPL3
- Browse OriGene Inhibitory RNA Products For SPPL3
- genomics-online: shRNA clones - Search results for 62 available SPPL3 gene related products
- Overview of 62 available SPPL3 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for SPPL3 gene
Clone Products
- VectorBuilder custom plasmid, inducible vectors for SPPL3
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for SPPL3
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Applied Biological Materials Clones for SPPL3
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for SPPL3
-
ViGene Biosciences adenoviral particle packaged cDNA for SPPL3 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for SPPL3 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for SPPL3 gene
No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SPPL3 Gene
Localization for SPPL3 Gene
Subcellular locations from UniProtKB/Swiss-Prot for SPPL3 Gene
- Endoplasmic reticulum membrane; Multi-pass membrane protein. Golgi apparatus. Membrane; Multi-pass membrane protein; Lumenal side.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| endoplasmic reticulum | 5 |
| golgi apparatus | 5 |
| lysosome | 4 |
| endosome | 1 |
- Plasma membrane (3)
- Vesicles (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005765 | lysosomal membrane | IBA | -- |
| GO:0005783 | endoplasmic reticulum | IEA | -- |
| GO:0005789 | endoplasmic reticulum membrane | IEA | -- |
| GO:0005791 | rough endoplasmic reticulum | IDA | 15998642 |
| GO:0005794 | Golgi apparatus | IEA | -- |
Pathways & Interactions for SPPL3 Gene
No Data Available
Interacting Proteins for SPPL3 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006508 | proteolysis | IEA | -- |
| GO:0006509 | NOT membrane protein ectodomain proteolysis | IMP | 16829952 |
| GO:0007204 | positive regulation of cytosolic calcium ion concentration | ISS,IEA | -- |
| GO:0032092 | positive regulation of protein binding | IEA,ISS | -- |
| GO:0033619 | membrane protein proteolysis | IDA | 2313285 |
No data available for Pathways by source and SIGNOR curated interactions for SPPL3 Gene
Transcripts for SPPL3 Gene
mRNA/cDNA for SPPL3 Gene
- (2) REFSEQ mRNAs :
- (16) Additional mRNA sequences :
- (1) Selected AceView cDNA sequences:
- (9) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for SPPL3 Gene
CRISPR Products
-
OriGene CRISPR knockouts for SPPL3
- genomics-online: gRNA clones - Search results for 62 available SPPL3 gene related products
- Overview of 62 available SPPL3 gene related products
- Applied Biological Materials CRISPR for SPPL3
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for SPPL3
- GenScript: Design CRISPR guide RNA sequences for SPPL3
miRNA Products
- Search ViGene Biosciences for SPPL3
Inhibitory RNA Products
- Origene RNAi and shrna products in human, mouse, rat for SPPL3
- Browse OriGene Inhibitory RNA Products For SPPL3
- genomics-online: shRNA clones - Search results for 62 available SPPL3 gene related products
- Overview of 62 available SPPL3 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for SPPL3 gene
Clone Products
- VectorBuilder custom plasmid, inducible vectors for SPPL3
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for SPPL3
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Applied Biological Materials Clones for SPPL3
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for SPPL3 Gene
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SPPL3 Gene
NURSA nuclear receptor signaling pathways regulating expression of SPPL3 Gene:
SPPL3SOURCE GeneReport for Unigene cluster for SPPL3 Gene:
Hs.507087mRNA Expression by UniProt/SwissProt for SPPL3 Gene:
Q8TCT6-SPPL3_HUMAN
Tissue specificity:
Widely expressed (PubMed:15385547). Expressed in the brain (PubMed:11978763).
Evidence on tissue expression from TISSUES for SPPL3 Gene
- Nervous system(4.7)
- Liver(4.2)
- Pancreas(4.2)
- Blood(4)
Primer Products
-
OriGene qPCR primer pairs for SPPL3
-
OriGene qPCR primer pairs and template standards for SPPL3
- genomics-online: primer clones - Search results for 62 available SPPL3 gene related products
- Overview of 62 available SPPL3 gene related products
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for SPPL3 Gene
Orthologs for SPPL3 Gene
This gene was present in the common ancestor of eukaryotes.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | SPPL3 34 33 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | SPPL3 34 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | SPPL3 33 34 |
|
||
| dog (Canis familiaris) |
Mammalia | SPPL3 33 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Sppl3 33 16 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Sppl3 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | SPPL3 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | SPPL3 33 34 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | SPPL3 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | sppl3 33 |
|
||
| MGC75937 33 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | MGC52975 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | sppl3 34 33 |
|
OneToOne | |
| fruit fly (Drosophila melanogaster) |
Insecta | CG17370 35 |
|
|
|
| SppL 33 |
|
||||
| Sppl 34 |
|
OneToOne | |||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP003207 33 |
|
||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | -- 34 |
|
OneToMany | |
| thale cress (Arabidopsis thaliana) |
eudicotyledons | SPPL1 33 |
|
||
| rice (Oryza sativa) |
Liliopsida | Os10g0393100 33 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.3487 34 |
|
OneToOne | |
| sea squirt (Ciona intestinalis) |
Ascidiacea | Cin.10348 33 |
|
- Species where no ortholog for SPPL3 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)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- 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 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)
- worm (Caenorhabditis elegans)
Paralogs for SPPL3 Gene
Variants for SPPL3 Gene
| SNP ID | Clin | Chr 12 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1000061871 | -- | 120,876,292(-) | G/T | genic_upstream_transcript_variant, intron_variant | |
| rs1000101528 | -- | 120,838,422(-) | G/A | intron_variant | |
| rs1000137310 | -- | 120,773,023(-) | G/C | intron_variant | |
| rs1000148568 | -- | 120,809,013(-) | G/A | intron_variant | |
| rs1000150823 | -- | 120,812,536(-) | C/A | intron_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv2915n54 | CNV | gain | 21841781 |
| dgv2916n54 | CNV | loss | 21841781 |
| dgv2917n54 | CNV | gain | 21841781 |
| dgv2918n54 | CNV | loss | 21841781 |
| esv1190904 | CNV | deletion | 17803354 |
| esv1624453 | CNV | insertion | 17803354 |
| esv23186 | CNV | loss | 19812545 |
| esv2591284 | CNV | deletion | 19546169 |
| esv2672947 | CNV | deletion | 23128226 |
| esv2746478 | CNV | deletion | 23290073 |
| esv2763007 | CNV | loss | 21179565 |
| esv3630932 | CNV | loss | 21293372 |
| nsv1045178 | CNV | gain | 25217958 |
| nsv1070133 | CNV | deletion | 25765185 |
| nsv1144659 | CNV | deletion | 24896259 |
| nsv521928 | CNV | gain | 19592680 |
| nsv560438 | CNV | gain | 21841781 |
| nsv560439 | CNV | loss | 21841781 |
| nsv560440 | CNV | loss | 21841781 |
| nsv560442 | CNV | loss | 21841781 |
| nsv560450 | CNV | gain+loss | 21841781 |
| nsv908 | CNV | insertion | 18451855 |
| nsv957924 | CNV | deletion | 24416366 |
Residual Variation Intolerance Score:
30.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
0.15;
3.35% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for SPPL3 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- SPPL3
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SPPL3 Gene
Disorders for SPPL3 Gene
Additional Disease Information for SPPL3
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No disorders were found for SPPL3 Gene.
No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SPPL3 Gene
Publications for SPPL3 Gene
- Intramembrane proteolytic cleavage by human signal peptide peptidase like 3 and malaria signal peptide peptidase. (PMID: 16873890) Nyborg AC … Golde TE (FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2006) 3 4 22 58
- Consensus analysis of signal peptide peptidase and homologous human aspartic proteases reveals opposite topology of catalytic domains compared with presenilins. (PMID: 15385547) Friedmann E … Martoglio B (The Journal of biological chemistry 2004) 3 4 22 58
- Novel class of polytopic proteins with domains associated with putative protease activity. (PMID: 12139484) Grigorenko AP … Rogaev EI (Biochemistry. Biokhimiia 2002) 2 3 4 58
- A protease-independent function for SPPL3 in NFAT activation. (PMID: 25384971) Makowski SL … Pomerantz JL (Molecular and cellular biology 2015) 3 4 58
- Secretome analysis identifies novel signal Peptide peptidase-like 3 (Sppl3) substrates and reveals a role of Sppl3 in multiple Golgi glycosylation pathways. (PMID: 25827571) Kuhn PH … Fluhrer R (Molecular & cellular proteomics : MCP 2015) 3 4 58
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