RNF113A
entrez
7737
canonical
uniprot
O15541
canonical
ensembl
ENSG00000125352
resolver
ensp
ENSP00000360497
resolver
enst
ENST00000371442
resolver
genesymbol
RNF113A
resolver
genesymbol_syn
RNF113
resolver
genesymbol_syn
ZNF183
resolver
hgnc
HGNC:12974
resolver
uniprot
B2RBR7
resolver
uniprot_entry
R113A_HUMAN
resolver
uniprot_sec
B2RBR7
resolver
amino_acid_sequence
MAEQLSPGKAVDQVCTFLFKKPGRKGAAGRRKRPACDPEPGESGSSSDEGCTVVRPEKKRVTHNPMIQKTRDSGKQKAAYGDLSSEEEEENEPESLGVVYKSTRSAKPVGPEDMGATAVYELDTEKERDAQAIFERSQKIQEELRGKEDDKIYRGINNYQKYMKPKDTSMGNASSGMVRKGPIRAPEHLRATVRWDYQPDICKDYKETGFCGFGDSCKFLHDRSDYKHGWQIERELDEGRYGVYEDENYEVGSDDEEIPFKCFICRQSFQNPVVTKCRHYFCESCALQHFRTTPRCYVCDQQTNGVFNPAKELIAKLEKHRATGEGGASDLPEDPDEDAIPIT
uniprot
proteins
disease_involvement
DISEASE: Trichothiodystrophy 5, non-photosensitive (TTD5) [MIM:300953]: An X-linked form of trichothiodystrophy, a disease characterized by sulfur-deficient brittle hair and multisystem variable abnormalities. The spectrum of clinical features varies from mild disease with only hair involvement to severe disease with cutaneous, neurologic and profound developmental defects. Ichthyosis, intellectual and developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections are common manifestations. There are both photosensitive and non-photosensitive forms of the disorder. TTD5 features include microcephaly, profound intellectual disability, sparse brittle hair, aged appearance, short stature, facial dysmorphism, seizures, an immunoglobulin deficiency, multiple endocrine abnormalities, cerebellar hypoplasia and partial absence of the corpus callosum, in the absence of cellular photosensitivity and ichthyosis. {ECO:0000269|PubMed:25612912}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.3.2.27
uniprot
proteins
function
FUNCTION: Required for pre-mRNA splicing as component of the spliceosome (PubMed:29360106, PubMed:29361316). As a component of the minor spliceosome, involved in the splicing of U12-type introns in pre-mRNAs (Probable). E3 ubiquitin-protein ligase that catalyzes the transfer of ubiquitin onto target proteins (PubMed:28978524, PubMed:29144457). Catalyzes polyubiquitination of SNRNP200/BRR2 with non-canonical 'Lys-63'-linked polyubiquitin chains (PubMed:29144457). Plays a role in DNA repair via its role in the synthesis of 'Lys-63'-linked polyubiquitin chains that recruit ALKBH3 and the ASCC complex to sites of DNA damage by alkylating agents (PubMed:29144457). Ubiquitinates CXCR4, leading to its degradation, and thereby contributes to the termination of CXCR4 signaling (PubMed:28978524). {ECO:0000269|PubMed:28978524, ECO:0000269|PubMed:29144457, ECO:0000269|PubMed:29360106, ECO:0000269|PubMed:29361316, ECO:0000305|PubMed:33509932}.
uniprot
proteins
mass_dalton
38787
uniprot
proteins
mutagenesis
MUTAGEN 2..60; /note="Missing: Strongly decreased interaction with SNRNP200/BRR2."; /evidence="ECO:0000269|PubMed:29144457"; MUTAGEN 50..61; /note="Missing: Strongly decreased interaction with CXCR4. Abolishes the ability to promote CXCR4 degradation."; /evidence="ECO:0000269|PubMed:28978524"; MUTAGEN 262; /note="C->A: Loss of E3 ubiquitin ligase activity."; /evidence="ECO:0000269|PubMed:28978524"; MUTAGEN 264; /note="I->A: Strongly reduced E3 ubiquitin ligase activity."; /evidence="ECO:0000269|PubMed:29144457"; MUTAGEN 277; /note="C->A: Loss of E3 ubiquitin ligase activity."; /evidence="ECO:0000269|PubMed:28978524"; MUTAGEN 301..343; /note="Missing: Cells are hypersensitive to DNA damage by alkylating agents."; /evidence="ECO:0000269|PubMed:29144457
uniprot
proteins
pathway_participation
PATHWAY: Protein modification; protein ubiquitination. {ECO:0000269|PubMed:28978524, ECO:0000269|PubMed:29144457}.
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15772651
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
17487921
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
22365833
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25612912
uniprot
proteins
pubmed
28978524
uniprot
proteins
pubmed
29144457
uniprot
proteins
pubmed
29360106
uniprot
proteins
pubmed
29361316
uniprot
proteins
pubmed
33509932
uniprot
proteins
pubmed
40473212
uniprot
proteins
pubmed
9224902
uniprot
proteins
sequence_length
343
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:29360106, ECO:0000269|PubMed:29361316}. Nucleus speckle {ECO:0000269|PubMed:29144457}. Note=Colocalizes with ASCC2 in nuclear foci after DNA damage by alkylating agents. In the absence of DNA damage, colocalizes with the spliceosome components SNRNP200/BRR2 and PRPF8 in nuclear speckles. {ECO:0000269|PubMed:29144457}.
uniprot
proteins