MBTPS2
entrez
51360
canonical
uniprot
O43462
canonical
ensembl
ENSG00000012174
resolver
ensp
ENSP00000368798
resolver
enst
ENST00000379484
resolver
genesymbol
MBTPS2
resolver
genesymbol_syn
S2P
resolver
hgnc
HGNC:15455
resolver
uniprot
Q9UM70
resolver
uniprot
Q9UMD3
resolver
uniprot_entry
MBTP2_HUMAN
resolver
uniprot_sec
Q9UM70
resolver
uniprot_sec
Q9UMD3
resolver
amino_acid_sequence
MIPVSLVVVVVGGWTVVYLTDLVLKSSVYFKHSYEDWLENNGLSISPFHIRWQTAVFNRAFYSWGRRKARMLYQWFNFGMVFGVIAMFSSFFLLGKTLMQTLAQMMADSPSSYSSSSSSSSSSSSSSSSSSSSSSSLHNEQVLQVVVPGINLPVNQLTYFFTAVLISGVVHEIGHGIAAIREQVRFNGFGIFLFIIYPGAFVDLFTTHLQLISPVQQLRIFCAGIWHNFVLALLGILALVLLPVILLPFYYTGVGVLITEVAEDSPAIGPRGLFVGDLVTHLQDCPVTNVQDWNECLDTIAYEPQIGYCISASTLQQLSFPVRAYKRLDGSTECCNNHSLTDVCFSYRNNFNKRLHTCLPARKAVEATQVCRTNKDCKKSSSSSFCIIPSLETHTRLIKVKHPPQIDMLYVGHPLHLHYTVSITSFIPRFNFLSIDLPVVVETFVKYLISLSGALAIVNAVPCFALDGQWILNSFLDATLTSVIGDNDVKDLIGFFILLGGSVLLAANVTLGLWMVTAR
uniprot
proteins
disease_involvement
DISEASE: IFAP syndrome 1, with or without Bresheck syndrome (IFAP1) [MIM:308205]: An X-linked syndrome characterized by a peculiar triad of follicular ichthyosis, total or subtotal atrichia, and photophobia of varying degree. Histopathologically, the epidermal granular layer is generally well-preserved or thickened at the infundibulum. Hair follicles are poorly developed and tend to be surrounded by an inflammatory infiltrate. A subgroup of patients is described with lamellar rather than follicular ichthyosis. Non-consistent features may include growth and psychomotor retardation, aganglionic megacolon, seizures and nail dystrophy. {ECO:0000269|PubMed:19361614}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Olmsted syndrome, X-linked (OLMSX) [MIM:300918]: A rare congenital disorder characterized by bilateral mutilating palmoplantar keratoderma and periorificial keratotic plaques with severe itching at all lesions. Diffuse alopecia, constriction of digits, and onychodystrophy have also been reported. Infections and squamous cell carcinomas can arise on the keratotic areas. The digital constriction may progress to autoamputation of fingers and toes. {ECO:0000269|PubMed:22931912}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Keratosis follicularis spinulosa decalvans X-linked (KFSDX) [MIM:308800]: A rare disorder affecting the skin and the eye. Affected men show thickening of the skin of the neck, ears, and extremities, especially the palms and soles, loss of eyebrows, eyelashes and beard, thickening of the eyelids with blepharitis and ectropion, and corneal degeneration. {ECO:0000269|PubMed:20672378}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Osteogenesis imperfecta 19 (OI19) [MIM:301014]: An X-linked form of osteogenesis imperfecta, a disorder of bone formation characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI19 is characterized by prenatal fractures, short stature, white sclerae, variable scoliosis and pectal deformity, striking tibial anterior angulation and generalized osteopenia. {ECO:0000269|PubMed:27380894}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.4.24.85
uniprot
proteins
function
FUNCTION: Zinc metalloprotease that mediates intramembrane proteolysis of proteins such as ATF6, ATF6B, SREBF1/SREBP1 and SREBF2/SREBP2 (PubMed:10805775, PubMed:11163209). Catalyzes the second step in the proteolytic activation of the sterol regulatory element-binding proteins (SREBPs) SREBF1/SREBP1 and SREBF2/SREBP2: cleaves SREBPs within the first transmembrane segment, thereby releasing the N-terminal segment with a portion of the transmembrane segment attached (PubMed:10805775, PubMed:27380894, PubMed:9659902). Mature N-terminal SREBP fragments shuttle to the nucleus and activate gene transcription (PubMed:10805775, PubMed:27380894, PubMed:9659902). Also mediates the second step in the proteolytic activation of the cyclic AMP-dependent transcription factor ATF-6 (ATF6 and ATF6B) (PubMed:11163209). Involved in intramembrane proteolysis during bone formation (PubMed:27380894). In astrocytes and osteoblasts, upon DNA damage and ER stress, mediates the second step of the regulated intramembrane proteolytic activation of the transcription factor CREB3L1, leading to the inhibition of cell-cycle progression (PubMed:16417584). {ECO:0000269|PubMed:10805775, ECO:0000269|PubMed:11163209, ECO:0000269|PubMed:16417584, ECO:0000269|PubMed:27380894, ECO:0000269|PubMed:9659902}.
uniprot
proteins
mass_dalton
57444
uniprot
proteins
mutagenesis
MUTAGEN 171; /note="H->F: Loss of activity."; /evidence="ECO:0000269|PubMed:9659902"; MUTAGEN 172; /note="E->A,Q: Loss of activity."; /evidence="ECO:0000269|PubMed:9659902"; MUTAGEN 172; /note="E->D: Partial loss of activity."; /evidence="ECO:0000269|PubMed:9659902"; MUTAGEN 175; /note="H->F: Loss of activity."; /evidence="ECO:0000269|PubMed:9659902"; MUTAGEN 467; /note="D->N: Loss of activity."; /evidence="ECO:0000269|PubMed:9659902
uniprot
proteins
protein_family
Peptidase M50A family
uniprot
proteins
pubmed
10419520
uniprot
proteins
pubmed
10805775
uniprot
proteins
pubmed
11163209
uniprot
proteins
pubmed
15772651
uniprot
proteins
pubmed
16417584
uniprot
proteins
pubmed
19361614
uniprot
proteins
pubmed
20672378
uniprot
proteins
pubmed
22931912
uniprot
proteins
pubmed
27380894
uniprot
proteins
pubmed
9659902
uniprot
proteins
sequence_length
519
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Membrane {ECO:0000305|PubMed:19361614}; Multi-pass membrane protein {ECO:0000255}. Cytoplasm {ECO:0000269|PubMed:19361614}. Golgi apparatus membrane {ECO:0000305|PubMed:16417584}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 4..24; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 75..95; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 96..107; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 145..169; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 174..186; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 187..209; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 229..251; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 447..464; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 465..476; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 493..513; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins