BCL10_HUMAN
Source:
PM19886704
PM23856902
Marked as 'Membrane associated protein'
Confidence:
low (only semi-automatic identification from reviews)
Search PubMed for
(RBC AND this entry)
Gene names:
BCL10
, CIPER, CLAP
Protein names and data:
BCL10_HUMAN
, B-cell lymphoma/leukemia 10
, B-cell CLL/lymphoma 10; Bcl-10; CARD-containing molecule enhancing NF-kappa-B; CARD-like apoptotic protein; hCLAP; CED-3/ICH-1 prodomain homologous E10-like regulator; CIPER; Cellular homolog of vCARMEN; cCARMEN; Cellular-E10; c-E10; Mammalian CARD-containing adapter molecule E10; mE10
Lenght: 233 a.a.
Mass: 26252 Da
fasta formatted sequence
Function:
Promotes apoptosis, pro-caspase-9 maturation and activation of NF-kappa-B via NIK and IKK. May be an adapter protein between upstream TNFR1-TRADD-RIP complex and the downstream NIK-IKK-IKAP complex. Is a substrate for MALT1.
Disease:
( OMIM:
156240
603517
)
Note=A chromosomal aberration involving BCL10 is recurrent in low-grade mucosa-associated lymphoid tissue (MALT lymphoma). Translocation t(1;14)(p22;q32). Although the BCL10/IgH translocation leaves the coding region of BCL10 intact, frequent BCL10 mutations could be attributed to the Ig somatic hypermutation mechanism resulting in nucleotide transitions. Note=Defects in BCL10 are involved in various types of cancer. Mesothelioma, malignant (MESOM) [MIM:156240]: An aggressive neoplasm of the serosal lining of the chest. It appears as broad sheets of cells, with some regions containing spindle- shaped, sarcoma-like cells and other regions showing adenomatous patterns. Pleural mesotheliomas have been linked to exposure to asbestos. Note=The gene represented in this entry may be involved in disease pathogenesis.
Cellular location:
Cytoplasm, perinuclear region. Membrane raft. Note=Appears to have a perinuclear, compact and filamentous pattern of expression. Also found in the nucleus of several types of tumor cells. Colocalized with DPP4 in membrane rafts.
Tissue specificity:
Ubiquitous.
Genetic variants
5 - 5
A -> S (in MALT lymphoma and mesothelioma; dbSNP:rs12037217). VAR_013208
12037217
16 - 16
V -> E (in MALT lymphoma). VAR_013209
31 - 31
K -> E (in MALT lymphoma). VAR_013210
45 - 45
K -> Q (in mesothelioma). VAR_013211
52 - 52
T -> I (in mesothelioma). VAR_013212
57 - 57
C -> R (in MALT lymphoma). VAR_013213
58 - 58
R -> G (in germ cell tumor). VAR_013214
58 - 58
R -> Q (in mesothelioma). VAR_013215
64 - 64
R -> K (in MALT lymphoma). VAR_013216
93 - 93
N -> S (in mesothelioma). VAR_013217
101 - 101
D -> E (in MALT lymphoma). VAR_013218
134 - 134
S -> P (in MALT lymphoma). VAR_013219
153 - 153
M -> V (in mesothelioma). VAR_013220
168 - 168
T -> A (in MALT lymphoma). VAR_013221
174 - 174
L -> S (in MALT lymphoma). VAR_013222
210 - 210
Missing (in follicular lymphoma). VAR_013223
213 - 213
G -> E (in MALT lymphoma and mesothelioma; dbSNP:rs3768235). VAR_013224
3768235
218 - 218
S -> F (in germ cell tumor, mesothelioma and other cancer cell lines). VAR_013225
230 - 230
V -> I (in MALT lymphoma). VAR_013226
Database cross-references
UniProt:
O95999
Ensembl:
ENST00000370580
MIM:
156240
MIM:
603517
neXtProt:
NX_O95999
Antibodypedia:
O95999
(may not find the protein thus also not any antibody)
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