CTNNBL1
entrez
56259
canonical
uniprot
Q8WYA6
canonical
ensembl
ENSG00000132792
resolver
ensp
ENSP00000355050
resolver
ensp
ENSP00000362572
resolver
ensp
ENSP00000487198
resolver
genesymbol
CTNNBL1
resolver
genesymbol_syn
C20orf33
resolver
hgnc
HGNC:15879
resolver
uniprot
B4DE16
resolver
uniprot
Q0VAL9
resolver
uniprot
Q0VAM0
resolver
uniprot
Q53HI8
resolver
uniprot
Q5JWZ2
resolver
uniprot
Q5JWZ3
resolver
uniprot
Q5JWZ7
resolver
uniprot
Q5JWZ8
resolver
uniprot
Q8N454
resolver
uniprot
Q8NCL2
resolver
uniprot
Q8TBD6
resolver
uniprot
Q96KD2
resolver
uniprot
Q9H7A5
resolver
uniprot
Q9NQF9
resolver
uniprot
Q9NTX0
resolver
uniprot
Q9Y3M7
resolver
uniprot_entry
CTBL1_HUMAN
resolver
uniprot_sec
B4DE16
resolver
uniprot_sec
Q0VAL9
resolver
uniprot_sec
Q0VAM0
resolver
uniprot_sec
Q53HI8
resolver
uniprot_sec
Q5JWZ2
resolver
uniprot_sec
Q5JWZ3
resolver
uniprot_sec
Q5JWZ7
resolver
uniprot_sec
Q5JWZ8
resolver
uniprot_sec
Q8N454
resolver
uniprot_sec
Q8NCL2
resolver
uniprot_sec
Q8TBD6
resolver
uniprot_sec
Q96KD2
resolver
uniprot_sec
Q9H7A5
resolver
uniprot_sec
Q9NQF9
resolver
uniprot_sec
Q9NTX0
resolver
uniprot_sec
Q9Y3M7
resolver
amino_acid_sequence
MDVGELLSYQPNRGTKRPRDDEEEEQKMRRKQTGTRERGRYREEEMTVVEEADDDKKRLLQIIDRDGEEEEEEEEPLDESSVKKMILTFEKRSYKNQELRIKFPDNPEKFMESELDLNDIIQEMHVVATMPDLYHLLVELNAVQSLLGLLGHDNTDVSIAVVDLLQELTDIDTLHESEEGAEVLIDALVDGQVVALLVQNLERLDESVKEEADGVHNTLAIVENMAEFRPEMCTEGAQQGLLQWLLKRLKAKMPFDANKLYCSEVLAILLQDNDENRELLGELDGIDVLLQQLSVFKRHNPSTAEEQEMMENLFDSLCSCLMLSSNRERFLKGEGLQLMNLMLREKKISRSSALKVLDHAMIGPEGTDNCHKFVDILGLRTIFPLFMKSPRKIKKVGTTEKEHEEHVCSILASLLRNLRGQQRTRLLNKFTENDSEKVDRLMELHFKYLGAMQVADKKIEGEKHDMVRRGEIIDNDTEEEFYLRRLDAGLFVLQHICYIMAEICNANVPQIRQRVHQILNMRGSSIKIVRHIIKEYAENIGDGRSPEFRENEQKRILGLLENF
uniprot
proteins
disease_involvement
DISEASE: Immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias (IMD99) [MIM:619846]: An autosomal recessive immunologic disorder characterized by recurrent sinopulmonary infections appearing in early childhood, B- and T-cell lymphopenia, and progressive severe hypogammaglobulinemia with decreased memory B cells. Patients may develop autoimmune cytopenias, such as thrombocytopenia, or autoimmune features, such as vitiligo. {ECO:0000269|PubMed:32484799}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Component of the PRP19-CDC5L complex that forms an integral part of the spliceosome and is required for activating pre-mRNA splicing. Participates in AID/AICDA-mediated somatic hypermutation (SHM) and class-switch recombination (CSR), 2 processes resulting in the production of high-affinity, mutated isotype-switched antibodies (PubMed:32484799). {ECO:0000269|PubMed:32484799}.
uniprot
proteins
mass_dalton
65173
uniprot
proteins
mutagenesis
MUTAGEN 16..33; /note="Missing: Nuclear and cytoplasmic localization."; /evidence="ECO:0000269|PubMed:18722174"; MUTAGEN 521..563; /note="Missing: No change in NLS binding nor folding."; /evidence="ECO:0000269|PubMed:24269683
uniprot
proteins
pubmed
11780052
uniprot
proteins
pubmed
12659813
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15498874
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
18722174
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
20176811
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21385873
uniprot
proteins
pubmed
22223895
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23897482
uniprot
proteins
pubmed
24269683
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
32484799
uniprot
proteins
sequence_length
563
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: [Isoform 1]: Nucleus.; SUBCELLULAR LOCATION: [Isoform 2]: Cytoplasm {ECO:0000305}.
uniprot
proteins