SPPL2A
entrez
84888
canonical
uniprot
Q8TCT8
canonical
ensembl
ENSG00000138600
resolver
ensp
ENSP00000261854
resolver
ensp
ENSP00000513581
resolver
ensp
ENSP00000621759
resolver
ensp
ENSP00000660349
resolver
enst
ENST00000261854
resolver
enst
ENST00000698135
resolver
genesymbol
SPPL2A
resolver
genesymbol_syn
IMP3
resolver
genesymbol_syn
PSL2
resolver
hgnc
HGNC:30227
resolver
uniprot
A0A8V8TLZ2
resolver
uniprot
B2RDS0
resolver
uniprot
Q8TAW1
resolver
uniprot
Q96SZ8
resolver
uniprot_entry
A0A8V8TLZ2_HUMAN
resolver
uniprot_entry
SPP2A_HUMAN
resolver
uniprot_sec
B2RDS0
resolver
uniprot_sec
Q8TAW1
resolver
uniprot_sec
Q96SZ8
resolver
amino_acid_sequence
MGPQRRLSPAGAALLWGFLLQLTAAQEAILHASGNGTTKDYCMLYNPYWTALPSTLENATSISLMNLTSTPLCNLSDIPPVGIKSKAVVVPWGSCHFLEKARIAQKGGAEAMLVVNNSVLFPPSGNRSEFPDVKILIAFISYKDFRDMNQTLGDNITVKMYSPSWPNFDYTMVVIFVIAVFTVALGGYWSGLVELENLKAVTTEDREMRKKKEEYLTFSPLTVVIFVVICCVMMVLLYFFYKWLVYVMIAIFCIASAMSLYNCLAALIHKIPYGQCTIACRGKNMEVRLIFLSGLCIAVAVVWAVFRNEDRWAWILQDILGIAFCLNLIKTLKLPNFKSCVILLGLLLLYDVFFVFITPFITKNGESIMVELAAGPFGNNEKLPVVIRVPKLIYFSVMSVCLMPVSILGFGDIIVPGLLIAYCRRFDVQTGSSYIYYVSSTVAYAIGMILTFVVLVLMKKGQPALLYLVPCTLITASVVAWRRKEMKKFWKGNSYQMMDHLDCATNEENPVISGEQIVQQ
uniprot
proteins
disease_involvement
DISEASE: Immunodeficiency 86 (IMD86) [MIM:619549]: An autosomal recessive disorder characterized by susceptibility to mycobacterial disease after exposure to BCG vaccine. Affected individuals usually develop localized mycobacterial lymphadenopathy. {ECO:0000269|PubMed:30127434}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.4.23.-
uniprot
proteins
function
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 (PubMed:16829951, PubMed:16829952, PubMed:17557115, PubMed:17965014). Catalyzes the intramembrane cleavage of the anchored fragment of shed TNF (TNF), which promotes the release of the intracellular domain (ICD) for signaling to the nucleus (PubMed:16829952). Also responsible for the intramembrane cleavage of Fas antigen ligand FASLG, which promotes the release of the intracellular FasL domain (FasL ICD) (PubMed:17557115). Essential for degradation of the invariant chain CD74 that plays a central role in the function of antigen-presenting cells in the immune system (By similarity). Plays a role in the regulation of innate and adaptive immunity (PubMed:16829952). Catalyzes the intramembrane cleavage of the simian foamy virus envelope glycoprotein gp130 independently of prior ectodomain shedding by furin or furin-like proprotein convertase (PC)-mediated cleavage proteolysis (PubMed:23132852). {ECO:0000250|UniProtKB:Q9JJF9, ECO:0000269|PubMed:16829951, ECO:0000269|PubMed:16829952, ECO:0000269|PubMed:17557115, ECO:0000269|PubMed:17965014, ECO:0000269|PubMed:23132852}.
uniprot
proteins
mass_dalton
58143
uniprot
proteins
mutagenesis
MUTAGEN 412; /note="D->A: Loss of intramembrane-cleaving activity toward FASLG, ITM2B, TNF and the simian foamy virus envelope glycoprotein gp130."; /evidence="ECO:0000269|PubMed:16829952, ECO:0000269|PubMed:17557115, ECO:0000269|PubMed:17965014, ECO:0000269|PubMed:23132852
uniprot
proteins
post_translational_modification
PTM: Glycosylated. {ECO:0000269|PubMed:15385547, ECO:0000269|PubMed:19139490}.
uniprot
proteins
protein_family
Peptidase A22B family
uniprot
proteins
pubmed
12077416
uniprot
proteins
pubmed
12139484
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15385547
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16303743
uniprot
proteins
pubmed
16829951
uniprot
proteins
pubmed
16829952
uniprot
proteins
pubmed
17557115
uniprot
proteins
pubmed
17965014
uniprot
proteins
pubmed
19139490
uniprot
proteins
pubmed
23132852
uniprot
proteins
pubmed
30127434
uniprot
proteins
sequence_length
520
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Late endosome membrane {ECO:0000269|PubMed:16829952}; Multi-pass membrane protein {ECO:0000305}. Lysosome membrane {ECO:0000250|UniProtKB:Q9JJF9}; Multi-pass membrane protein {ECO:0000250|UniProtKB:Q9JJF9}. Membrane {ECO:0000269|PubMed:15385547}; Multi-pass membrane protein {ECO:0000305}; Lumenal side {ECO:0000269|PubMed:15385547}. Note=Colocalizes with palmitoylated and myristoylated proteins at the plasma membrane.
uniprot
proteins
transmembrane_region
TRANSMEM 173..193; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 221..241; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 248..268; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 286..306; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 312..332; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 341..361; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 400..420; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 438..458; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 461..481; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins