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Aliases for SPPL3 Gene
Aliases for SPPL3 Gene
External Ids for SPPL3 Gene
- HGNC: 30424
- NCBI Entrez Gene: 121665
- Ensembl: ENSG00000157837
- OMIM®: 608240
- UniProtKB/Swiss-Prot: Q8TCT6
Previous GeneCards Identifiers for SPPL3 Gene
- GC12P119943
- GC12M120799
- GC12M120983
- GC12M119612
- GC12M119663
- GC12M121201
- GC12M118210
- GC12M121202
- GC12M121210
- GC12M121231
- GC12M121252
- GC12M120951
- GC12M120975
- GC12M120977
- GC12M121013
- GC12M120801
- GC12M120819
- GC12M120840
- GC12M120862
- GC12M120882
- GC12M120905
- GC12M120928
- GC12M121051
Summaries for SPPL3 Gene
GeneCards Summary for SPPL3 Gene
SPPL3 (Signal Peptide Peptidase Like 3) is a Protein Coding gene. Diseases associated with SPPL3 include Plasmodium Ovale Malaria and Frontometaphyseal Dysplasia. 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 Summary 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
- HGNC (30424)
- NCBI Entrez Gene (121665)
- Ensembl (ENSG00000157837)
- OMIM® (608240)
- UniProtKB/Swiss-Prot (Q8TCT6)
- Open Targets Platform(ENSG00000157837)
- 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 , Rfam classification and piRNA Summary for SPPL3 Gene
Genomics for SPPL3 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for SPPL3 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 SPPL3 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SPPL3
- Top Transcription factor binding sites by QIAGEN in the SPPL3 gene promoter:
-
- AP-2beta
- CUTL1
- FOXO4
- p53
- POU2F1
- POU2F1a
- STAT1
- STAT1alpha
- STAT1beta
- ZID
Genomic Locations for SPPL3 Gene
Latest Assembly
- chr12:120,762,510-120,904,358
- (GRCh38/hg38)
- Size:
- 141,849 bases
- Orientation:
- Minus strand
Previous Assembly
- chr12:121,200,313-121,342,161
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 141,849 bases
- Orientation:
- Minus strand
- chr12:121,200,313-121,342,174
- (GRCh37/hg19 by Ensembl)
- Size:
- 141,862 bases
- Orientation:
- Minus strand
Genomic View for SPPL3 Gene
Genes around SPPL3 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 12q24.31 by HGNC
- 12q24.31 by Entrez Gene
- 12q24.31 by Ensembl
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:
- 384 amino acids
- Molecular mass:
- 42261 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=Truncated N-terminus.; Evidence={ECO:0000305};
Protein Expression for SPPL3 Gene
Post-translational modifications for SPPL3 Gene
- Not glycosylated (PubMed:15385547, PubMed:15998642).
- Modification sites at PhosphoSitePlus
- Modification sites at neXtProt
Other Protein References for SPPL3 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
-
Custom Antibody ServicesOriGene Antibodies for SPPL3
- Novus Biologicals Antibodies for SPPL3
- Invitrogen Antibodies for SPPL3 (AFLGC-SPPL3)
-
Custom Antibody ServicesProSci Antibodies for SPPL3
Protein products for research
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for SPPL3
- Origene Custom Protein Services for SPPL3
- Novus Biologicals proteins for SPPL3
-
Abcam proteins for SPPL3
Assay products for research
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:
-
- Presenilin signal peptide peptidase
- ProtoNet:
Suggested Antigen Peptide Sequences for SPPL3 Gene
- GenScript: Design optimal peptide antigens:
-
- Presenilin-like protein 4 (PSL4_HUMAN)
- Signal peptide peptidase-like protein 3 protein (Q3MJ04_HUMAN)
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 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).
- 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).
Enzyme Numbers (IUBMB) for SPPL3 Gene
Phenotypes From GWAS Catalog for SPPL3 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004190 | aspartic-type endopeptidase activity | IEA | -- |
| GO:0005515 | protein binding | IPI | 2313285 |
| GO:0008233 | peptidase activity | IEA | -- |
| GO:0016787 | hydrolase activity | IEA | -- |
| GO:0042500 | aspartic endopeptidase activity, intramembrane cleaving | IBA,IMP | 16873890 |
Phenotypes for SPPL3 Gene
- MGI mutant phenotypes for SPPL3:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for SPPL3:
Animal Models for research
-
Taconic Biosciences Mouse Models for SPPL3
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for SPPL3 - Starting at $85 >
- * SPPL3 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 SPPL3
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SPPL3
-
Santa Cruz Biotechnology (SCBT) CRISPR 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 for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SPPL3
- Browse OriGene Inhibitory RNA Products For SPPL3
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SPPL3
Clone products for research
- Applied Biological Materials (abm): Clones for SPPL3 - Starting at $45 >
- * SPPL3 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.
- Sino Biological Human cDNA Clone for SPPL3
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SPPL3
Cell Lines for research
-
Horizon Cell Lines for SPPL3
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 | 3 |
| extracellular | 1 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| nucleus | 1 |
| endosome | 1 |
| cytosol | 1 |
| lysosome | 1 |
- Plasma membrane (3)
- Vesicles (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005783 | endoplasmic reticulum | IEA | -- |
| GO:0005789 | endoplasmic reticulum membrane | IEA | -- |
| GO:0005791 | rough endoplasmic reticulum | IDA | 15998642 |
| GO:0005794 | Golgi apparatus | IEA | -- |
| GO:0005886 | plasma membrane | IDA | -- |
Pathways & Interactions for SPPL3 Gene
Interacting Proteins for SPPL3 Gene
GPS-Prot Interaction Network for SPPL3
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006465 | signal peptide processing | IBA | 21873635 |
| GO:0006508 | proteolysis | IEA | -- |
| GO:0006509 | NOT membrane protein ectodomain proteolysis | IMP | 16829952 |
| GO:0007204 | positive regulation of cytosolic calcium ion concentration | IEA,ISS | -- |
| GO:0032092 | positive regulation of protein binding | IEA,ISS | -- |
No data available for Pathways by source and SIGNOR curated interactions for SPPL3 Gene
Transcripts for SPPL3 Gene
mRNA/cDNA for SPPL3 Gene
- 1 REFSEQ mRNAs :
- 18 NCBI additional mRNA sequence :
- 9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000353487 4135 nts (view in UCSC)
- ENST00000392495 2265 nts (view in UCSC)
- ENST00000534966 868 nts (view in UCSC)
- ENST00000536996 763 nts (view in UCSC)
- ENST00000540091 531 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for SPPL3 - Starting at $85 >
- * SPPL3 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 SPPL3
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SPPL3
-
Santa Cruz Biotechnology (SCBT) CRISPR for SPPL3
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SPPL3
- Browse OriGene Inhibitory RNA Products For SPPL3
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SPPL3
Clone products for research
- Applied Biological Materials (abm): Clones for SPPL3 - Starting at $45 >
- * SPPL3 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.
- Sino Biological Human cDNA Clone for SPPL3
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SPPL3
Relevant External Links for SPPL3 Gene
- GeneLoc Exon Structure for
- SPPL3
Expression for SPPL3 Gene
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SPPL3 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SPPL3
SOURCE 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(4.8)
- Liver(4.3)
- Blood(4.2)
- Pancreas(4.2)
- Skin(2.3)
Primer products for research
-
OriGene qPCR primer pairs for SPPL3
-
OriGene qPCR primer pairs and template standards for SPPL3
Gene Expression Assays for research
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 30 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | SPPL3 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | SPPL3 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | SPPL3 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Sppl3 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Sppl3 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | SPPL3 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | SPPL3 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | SPPL3 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | sppl3 30 |
|
||
| MGC75937 30 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | MGC52975 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | sppl3 30 31 |
|
OneToOne | |
| Fruit Fly (Drosophila melanogaster) |
Insecta | CG17370 32 |
|
|
|
| SppL 30 |
|
||||
| Sppl 31 |
|
OneToOne | |||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP003207 30 |
|
||
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | -- 31 |
|
OneToMany | |
| Thale Cress (Arabidopsis thaliana) |
eudicotyledons | SPPL1 30 |
|
||
| Rice (Oryza sativa) |
Liliopsida | Os10g0393100 30 |
|
||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.3487 31 |
|
OneToOne | |
| Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.10348 30 |
|
- Species where no ortholog for SPPL3 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)
- 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)
Evolution for SPPL3 Gene
- ENSEMBL:
- Gene Tree for SPPL3 (if available)
- TreeFam:
- Gene Tree for SPPL3 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for SPPL3: view image
Paralogs for SPPL3 Gene
Variants for SPPL3 Gene
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| 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 Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SPPL3 Gene
Disorders for SPPL3 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| plasmodium ovale malaria |
|
|
| frontometaphyseal dysplasia |
|
|
Search SPPL3 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for SPPL3
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- 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 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 23
- 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 23
- Novel class of polytopic proteins with domains associated with putative protease activity. (PMID: 12139484) Grigorenko AP … Rogaev EI (Biochemistry. Biokhimiia 2002) 2 3 4
- 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
- A protease-independent function for SPPL3 in NFAT activation. (PMID: 25384971) Makowski SL … Pomerantz JL (Molecular and cellular biology 2015) 3 4
ExternalLinks
Products for SPPL3 Gene
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- antibodies-online: Show 10 available SPPL3 Antibodies ranked by validation data
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Sources for SPPL3 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
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- (22) IntAct
- (23) Novoseek
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- (25) DrugBank
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- (27) ASD
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- (29) SOURCE
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- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
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- (36) Pseudogene
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- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
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- (77) ESI-BIO
- (78) RefSeq
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- (80) MaxQB
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- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
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- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
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- (100) DGIdb
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- (104) diseasecard
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- (115) NCBI Bookshelf
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