CRADD
entrez
8738
canonical
uniprot
P78560
canonical
ensembl
ENSG00000169372
resolver
ensp
ENSP00000327647
resolver
ensp
ENSP00000439068
resolver
ensp
ENSP00000448685
resolver
ensp
ENSP00000449570
resolver
ensp
ENSP00000449664
resolver
ensp
ENSP00000646631
resolver
ensp
ENSP00000791809
resolver
enst
ENST00000548483
resolver
enst
ENST00000552033
resolver
enst
ENST00000552983
resolver
genesymbol
CRADD
resolver
genesymbol_syn
RAIDD
resolver
hgnc
HGNC:2340
resolver
uniprot
B4DJT6
resolver
uniprot
B7Z2Q5
resolver
uniprot
F5H7C2
resolver
uniprot
F8VV49
resolver
uniprot
F8VVY5
resolver
uniprot
Q53XL1
resolver
uniprot
Q8IY43
resolver
uniprot_entry
B4DJT6_HUMAN
resolver
uniprot_entry
CRADD_HUMAN
resolver
uniprot_entry
F5H7C2_HUMAN
resolver
uniprot_entry
F8VV49_HUMAN
resolver
uniprot_entry
F8VVY5_HUMAN
resolver
uniprot_entry
Q53XL1_HUMAN
resolver
uniprot_entry
Q8IY43_HUMAN
resolver
uniprot_sec
B7Z2Q5
resolver
amino_acid_sequence
MEARDKQVLRSLRLELGAEVLVEGLVLQYLYQEGILTENHIQEINAQTTGLRKTMLLLDILPSRGPKAFDTFLDSLQEFPWVREKLKKAREEAMTDLPAGDRLTGIPSHILNSSPSDRQINQLAQRLGPEWEPMVLSLGLSQTDIYRCKANHPHNVQSQVVEAFIRWRQRFGKQATFQSLHNGLRAVEVDPSLLLHMLE
uniprot
proteins
disease_involvement
DISEASE: Intellectual developmental disorder, autosomal recessive 34, with variant lissencephaly (MRT34) [MIM:614499]: A disorder characterized by mild to moderate intellectual disability, megalencephaly or enlarged head circumference, and a mild variant of lissencephaly with anterior-predominant pachygyria with shallow and unusually wide sulci and mildly thickened cortex. Some patients may have seizures. {ECO:0000269|PubMed:22279524}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Adapter protein that associates with PIDD1 and the caspase CASP2 to form the PIDDosome, a complex that activates CASP2 and triggers apoptosis (PubMed:15073321, PubMed:16652156, PubMed:17159900, PubMed:17289572, PubMed:9044836). Also recruits CASP2 to the TNFR-1 signaling complex through its interaction with RIPK1 and TRADD and may play a role in the tumor necrosis factor-mediated signaling pathway (PubMed:8985253). {ECO:0000269|PubMed:15073321, ECO:0000269|PubMed:16652156, ECO:0000269|PubMed:17159900, ECO:0000269|PubMed:17289572, ECO:0000269|PubMed:8985253, ECO:0000269|PubMed:9044836}.
uniprot
proteins
mass_dalton
22745
uniprot
proteins
mutagenesis
MUTAGEN 27; /note="L->F: Loss of interaction with CASP2."; /evidence="ECO:0000269|PubMed:8985253"; MUTAGEN 65; /note="G->A: Loss of interaction with CASP2."; /evidence="ECO:0000269|PubMed:8985253"; MUTAGEN 121; /note="N->D: Loss of interaction with PIDD1."; /evidence="ECO:0000269|PubMed:17289572"; MUTAGEN 125; /note="Q->A: Loss of interaction with PIDD1."; /evidence="ECO:0000269|PubMed:17289572"; MUTAGEN 136; /note="L->E: Partial loss of interaction with PIDD1."; /evidence="ECO:0000269|PubMed:17289572"; MUTAGEN 142; /note="Q->E: Partial loss of interaction with PIDD1."; /evidence="ECO:0000269|PubMed:17289572"; MUTAGEN 146; /note="Y->A: Loss of interaction with PIDD1. Decreased PIDDosome assembly. Decreased CASP2 activation."; /evidence="ECO:0000269|PubMed:17289572"; MUTAGEN 147; /note="R->A: Loss of interaction with PIDD1. Decreased PIDDosome assembly. Decreased CASP2 activation."; /evidence="ECO:0000269|PubMed:17289572"; MUTAGEN 147; /note="R->E: Loss of interaction with PIDD1. Loss of PIDDosome assembly. Loss of CASP2 activation."; /evidence="ECO:0000269|PubMed:17289572"; MUTAGEN 149; /note="K->E: Loss of interaction with PIDD1."; /evidence="ECO:0000269|PubMed:17289572"; MUTAGEN 154; /note="H->A: Partial loss of interaction with PIDD1."; /evidence="ECO:0000269|PubMed:17289572"; MUTAGEN 156; /note="V->D: Loss of interaction with PIDD1. Loss of PIDDosome assembly. Loss of CASP2 activation."; /evidence="ECO:0000269|PubMed:17289572"; MUTAGEN 169; /note="Q->A: Partial loss of interaction with PIDD1. Decreased PIDDosome assembly. Decreased CASP2 activation."; /evidence="ECO:0000269|PubMed:17289572"; MUTAGEN 169; /note="Q->E: Loss of interaction with PIDD1."; /evidence="ECO:0000269|PubMed:17289572"; MUTAGEN 170; /note="R->A: Partial loss of interaction with PIDD1."; /evidence="ECO:0000269|PubMed:17289572"; MUTAGEN 188; /note="E->K: No effect on interaction with PIDD1."; /evidence="ECO:0000269|PubMed:17289572"; MUTAGEN 189; /note="V->W,D: No effect on interaction with PIDD1."; /evidence="ECO:0000269|PubMed:17289572
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15073321
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16541075
uniprot
proteins
pubmed
16652156
uniprot
proteins
pubmed
17159900
uniprot
proteins
pubmed
17289572
uniprot
proteins
pubmed
22279524
uniprot
proteins
pubmed
8985253
uniprot
proteins
pubmed
9044836
uniprot
proteins
pubmed
9695946
uniprot
proteins
sequence_length
199
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:O88843}. Nucleus {ECO:0000250|UniProtKB:O88843}.
uniprot
proteins