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Aliases for SPPL2A Gene

Aliases for SPPL2A Gene

  • Signal Peptide Peptidase Like 2A 2 3
  • Presenilin-Like Protein 2 2 3 4
  • Intramembrane Protease 3 2 3 4
  • IMP3 3 4 6
  • SPP-Like 2A 3 4
  • IMP-3 3 4
  • PSL2 3 4
  • Signal Peptide Peptidase-Like 2A 3
  • Intramembrane Cleaving Protease 3
  • EC 3.4.23.- 4
  • SPPL2a 4

External Ids for SPPL2A Gene

Summaries for SPPL2A Gene

Entrez Gene Summary for SPPL2A Gene

  • This gene encodes a member of the GXGD family of aspartic proteases, which are transmembrane proteins with two conserved catalytic motifs localized within the membrane-spanning regions, as well as a member of the signal peptide peptidase-like protease (SPPL) family. This protein is expressed in all major adult human tissues and localizes to late endosomal compartments and lysosomal membranes. A pseudogene of this gene also lies on chromosome 15. [provided by RefSeq, Feb 2012]

GeneCards Summary for SPPL2A Gene

SPPL2A (Signal Peptide Peptidase Like 2A) is a Protein Coding gene. Among its related pathways are Ribosome biogenesis in eukaryotes. GO annotations related to this gene include protein homodimerization activity and aspartic-type endopeptidase activity. An important paralog of this gene is SPPL3.

UniProtKB/Swiss-Prot for SPPL2A Gene

  • Intramembrane-cleaving aspartic protease (I-CLiP) that cleaves type II membrane signal peptides in the hydrophobic plane of the membrane. Functions in FASLG, ITM2B and TNF processing. Catalyzes the intramembrane cleavage of the anchored fragment of shed TNF-alpha (TNF), which promotes the release of the intracellular domain (ICD) for signaling to the nucleus. Also responsible for the intramembrane cleavage of Fas antigen ligand FASLG, which promotes the release of the intracellular FasL domain (FasL ICD). May play a role in the regulation of innate and adaptive immunity.

Gene Wiki entry for SPPL2A Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SPPL2A Gene

Genomics for SPPL2A Gene

Genomic Location for SPPL2A Gene

Start:
50,702,266 bp from pter
End:
50,765,808 bp from pter
Size:
63,543 bases
Orientation:
Minus strand

Genomic View for SPPL2A Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SPPL2A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SPPL2A Gene

Regulatory Elements for SPPL2A Gene

Proteins for SPPL2A Gene

  • Protein details for SPPL2A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TCT8-SPP2A_HUMAN
    Recommended name:
    Signal peptide peptidase-like 2A
    Protein Accession:
    Q8TCT8
    Secondary Accessions:
    • B2RDS0
    • Q8TAW1
    • Q96SZ8

    Protein attributes for SPPL2A Gene

    Size:
    520 amino acids
    Molecular mass:
    58143 Da
    Quaternary structure:
    • Interacts with ITM2B.
    SequenceCaution:
    • Sequence=BAB55117.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAD13133.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

neXtProt entry for SPPL2A Gene

Proteomics data for SPPL2A Gene at MOPED

Post-translational modifications for SPPL2A Gene

Other Protein References for SPPL2A Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SPPL2A Gene

Domains for SPPL2A Gene

Protein Domains for SPPL2A Gene

UniProtKB/Swiss-Prot:

SPP2A_HUMAN
Domain:
  • The PAL motif is required for normal active site conformation (By similarity). The catalytic domains embedded in the membrane are in the opposite orientation to that of the presenilin protein family; therefore, it is predicted to cleave type II-oriented substrate peptides like the prototypic protease SPP.:
    • Q8TCT8
  • Contains 1 PA (protease associated) domain.:
    • Q8TCT8
Family:
  • Belongs to the peptidase A22B family.:
    • Q8TCT8
genes like me logo Genes that share domains with SPPL2A: view

No data available for Gene Families for SPPL2A Gene

Function for SPPL2A Gene

Molecular function for SPPL2A Gene

UniProtKB/Swiss-Prot Function: Intramembrane-cleaving aspartic protease (I-CLiP) that cleaves type II membrane signal peptides in the hydrophobic plane of the membrane. Functions in FASLG, ITM2B and TNF processing. Catalyzes the intramembrane cleavage of the anchored fragment of shed TNF-alpha (TNF), which promotes the release of the intracellular domain (ICD) for signaling to the nucleus. Also responsible for the intramembrane cleavage of Fas antigen ligand FASLG, which promotes the release of the intracellular FasL domain (FasL ICD). May play a role in the regulation of innate and adaptive immunity.

Enzyme Numbers (IUBMB) for SPPL2A Gene

Gene Ontology (GO) - Molecular Function for SPPL2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004190 aspartic-type endopeptidase activity IEA --
GO:0005515 protein binding IPI 16189514
GO:0042803 protein homodimerization activity IDA 15385547
genes like me logo Genes that share ontologies with SPPL2A: view

Phenotypes for SPPL2A Gene

genes like me logo Genes that share phenotypes with SPPL2A: view

Animal Models for SPPL2A Gene

MGI Knock Outs for SPPL2A:

miRNA for SPPL2A Gene

miRTarBase miRNAs that target SPPL2A

No data available for Transcription Factor Targeting and HOMER Transcription for SPPL2A Gene

Localization for SPPL2A Gene

Subcellular locations from UniProtKB/Swiss-Prot for SPPL2A Gene

Late endosome membrane; Multi-pass membrane protein. Lysosome membrane; Multi-pass membrane protein. Cell membrane. Note=Colocalizes with palmitoylated and myristoylated proteins at the plasma membrane.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SPPL2A Gene COMPARTMENTS Subcellular localization image for SPPL2A gene
Compartment Confidence
endoplasmic reticulum 5
endosome 5
golgi apparatus 5
lysosome 5
plasma membrane 5
vacuole 5
cytosol 1

Gene Ontology (GO) - Cellular Components for SPPL2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005765 lysosomal membrane IDA 17897319
GO:0005886 plasma membrane IEA --
GO:0016021 integral component of membrane --
GO:0030660 Golgi-associated vesicle membrane IDA 17965014
GO:0031902 late endosome membrane IEA --
genes like me logo Genes that share ontologies with SPPL2A: view

Pathways for SPPL2A Gene

genes like me logo Genes that share pathways with SPPL2A: view

Pathways by source for SPPL2A Gene

1 KEGG pathway for SPPL2A Gene

Gene Ontology (GO) - Biological Process for SPPL2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis --
GO:0006509 membrane protein ectodomain proteolysis IDA 16829951
GO:0031293 membrane protein intracellular domain proteolysis IMP 16829952
GO:0050776 regulation of immune response IMP 16829952
genes like me logo Genes that share ontologies with SPPL2A: view

Transcripts for SPPL2A Gene

Unigene Clusters for SPPL2A Gene

Signal peptide peptidase like 2A:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SPPL2A Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b · 13c ^ 14 ^ 15a · 15b ^ 16 ^ 17
SP1: - - - -
SP2:
SP3:
SP4:

Relevant External Links for SPPL2A Gene

GeneLoc Exon Structure for
SPPL2A
ECgene alternative splicing isoforms for
SPPL2A

Expression for SPPL2A Gene

mRNA expression in normal human tissues for SPPL2A Gene

mRNA differential expression in normal tissues according to GTEx for SPPL2A Gene

This gene is overexpressed in Muscle - Skeletal (4.8).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for SPPL2A Gene

SOURCE GeneReport for Unigene cluster for SPPL2A Gene Hs.401537

mRNA Expression by UniProt/SwissProt for SPPL2A Gene

Q8TCT8-SPP2A_HUMAN
Tissue specificity: Ubiquitous.
genes like me logo Genes that share expressions with SPPL2A: view

Orthologs for SPPL2A Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SPPL2A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SPPL2A 36
  • 99.74 (n)
  • 99.62 (a)
SPPL2A 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SPPL2A 36
  • 93.23 (n)
  • 90.74 (a)
SPPL2A 37
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SPPL2A 36
  • 92.05 (n)
  • 89.86 (a)
SPPL2A 37
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sppl2a 36
  • 83.75 (n)
  • 80.54 (a)
Sppl2a 16
Sppl2a 37
  • 80 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SPPL2A 37
  • 73 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SPPL2A 37
  • 69 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sppl2a 36
  • 83.94 (n)
  • 81.31 (a)
chicken
(Gallus gallus)
Aves SPPL2A 36
  • 74.37 (n)
  • 71.78 (a)
SPPL2A 37
  • 68 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SPPL2A 37
  • 53 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sppl2a 36
  • 65.36 (n)
  • 61.89 (a)
zebrafish
(Danio rerio)
Actinopterygii zgc:123258 36
  • 55.67 (n)
  • 51.06 (a)
worm
(Caenorhabditis elegans)
Secernentea imp-1 36
  • 48.54 (n)
  • 33.63 (a)
imp-1 37
  • 20 (a)
OneToMany
C36B1.12 38
  • 28 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 37
  • 16 (a)
OneToMany
rice
(Oryza sativa)
Liliopsida Os11g0433200 36
  • 48.02 (n)
  • 35.12 (a)
Species with no ortholog for SPPL2A:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SPPL2A Gene

ENSEMBL:
Gene Tree for SPPL2A (if available)
TreeFam:
Gene Tree for SPPL2A (if available)

Paralogs for SPPL2A Gene

Paralogs for SPPL2A Gene

Selected SIMAP similar genes for SPPL2A Gene using alignment to 3 proteins:

Pseudogenes.org Pseudogenes for SPPL2A Gene

genes like me logo Genes that share paralogs with SPPL2A: view

Variants for SPPL2A Gene

Sequence variations from dbSNP and Humsavar for SPPL2A Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type MAF
rs958572 -- 50,720,438(-) ACAAC(C/T)TATAT intron-variant
rs2304440 -- 50,747,861(-) TTTAG(A/G)TTCCT intron-variant
rs2414065 -- 50,755,654(-) TTCtt(C/T)ttttt intron-variant
rs2414066 -- 50,749,954(-) TCTTC(C/T)TTAAA intron-variant
rs2414067 -- 50,749,577(-) tgggc(A/C/G)cggtg intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SPPL2A Gene

Variant ID Type Subtype PubMed ID
nsv471242 CNV Gain 18288195
dgv317n27 CNV Gain 19166990
nsv904212 CNV Gain 21882294
nsv904213 CNV Loss 21882294
nsv457137 CNV Loss 19166990
esv2659888 CNV Deletion 23128226
esv2609237 CNV Deletion 19546169

Relevant External Links for SPPL2A Gene

HapMap Linkage Disequilibrium report
SPPL2A

Disorders for SPPL2A Gene

(1) Novoseek inferred disease relationships for SPPL2A Gene

Disease -log(P) Hits PubMed IDs
alzheimers disease 48.8 1
genes like me logo Genes that share disorders with SPPL2A: view

No data available for UniProtKB/Swiss-Prot for SPPL2A Gene

Publications for SPPL2A Gene

  1. 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. (J. Biol. Chem. 2004) 3 4 23
  2. The Fas ligand intracellular domain is released by ADAM10 and SPPL2a cleavage in T-cells. (PMID: 17557115) Kirkin V. … Zornig M. (Cell Death Differ. 2007) 3 4 23
  3. Regulated intramembrane proteolysis of Bri2 (Itm2b) by ADAM10 and SPPL2a/SPPL2b. (PMID: 17965014) Martin L. … Haass C. (J. Biol. Chem. 2008) 3 4 23
  4. Identification of signal peptide peptidase, a presenilin-type aspartic protease. (PMID: 12077416) Weihofen A. … Martoglio B. (Science 2002) 2 3 4
  5. Novel class of polytopic proteins with domains associated with putative protease activity. (PMID: 12139484) Grigorenko A.P. … Rogaev E.I. (Biokhimiia 2002) 2 3 4

Products for SPPL2A Gene

Sources for SPPL2A Gene

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