RUBCN
entrez
9711
canonical
uniprot
Q92622
canonical
ensembl
ENSG00000145016
resolver
ensp
ENSP00000273582
resolver
ensp
ENSP00000296343
resolver
ensp
ENSP00000405115
resolver
ensp
ENSP00000516727
resolver
ensp
ENSP00000524737
resolver
enst
ENST00000707076
resolver
genesymbol
KIAA0226
resolver
genesymbol
RUBCN
resolver
genesymbol_syn
KIAA0226
resolver
hgnc
HGNC:28991
resolver
uniprot
A0A9L9PY84
resolver
uniprot
Q8N4U6
resolver
uniprot
Q96CK5
resolver
uniprot_entry
A0A9L9PY84_HUMAN
resolver
uniprot_entry
Q8N4U6_HUMAN
resolver
uniprot_entry
RUBIC_HUMAN
resolver
uniprot_sec
Q96CK5
resolver
amino_acid_sequence
MRPEGAGMELGGGEERLPEESRREHWQLLGNLKTTVEGLVSTNSPNVWSKYGGLERLCRDMQSILYHGLIRDQACRRQTDYWQFVKDIRWLSPHSALHVEKFISVHENDQSSADGASERAVAELWLQHSLQYHCLSAQLRPLLGDRQYIRKFYTDAAFLLSDAHVTAMLQCLEAVEQNNPRLLAQIDASMFARKHESPLLVTKSQSLTALPSSTYTPPNSYAQHSYFGSFSSLHQSVPNNGSERRSTSFPLSGPPRKPQESRGHVSPAEDQTIQAPPVSVSALARDSPLTPNEMSSSTLTSPIEASWVSSQNDSPGDASEGPEYLAIGNLDPRGRTASCQSHSSNAESSSSNLFSSSSSQKPDSAASSLGDQEGGGESQLSSVLRRSSFSEGQTLTVTSGAKKSHIRSHSDTSIASRGAPESCNDKAKLRGPLPYSGQSSEVSTPSSLYMEYEGGRYLCSGEGMFRRPSEGQSLISYLSEQDFGSCADLEKENAHFSISESLIAAIELMKCNMMSQCLEEEEVEEEDSDREIQELKQKIRLRRQQIRTKNLLPMYQEAEHGSFRVTSSSSQFSSRDSAQLSDSGSADEVDEFEIQDADIRRNTASSSKSFVSSQSFSHCFLHSTSAEAVAMGLLKQFEGMQLPAASELEWLVPEHDAPQKLLPIPDSLPISPDDGQHADIYKLRIRVRGNLEWAPPRPQIIFNVHPAPTRKIAVAKQNYRCAGCGIRTDPDYIKRLRYCEYLGKYFCQCCHENAQMAIPSRVLRKWDFSKYYVSNFSKDLLIKIWNDPLFNVQDINSALYRKVKLLNQVRLLRVQLCHMKNMFKTCRLAKELLDSFDTVPGHLTEDLHLYSLNDLTATRKGELGPRLAELTRAGATHVERCMLCQAKGFICEFCQNEDDIIFPFELHKCRTCEECKACYHKACFKSGSCPRCERLQARREALARQSLESYLSDYEEEPAEALALEAAVLEAT
uniprot
proteins
disease_involvement
DISEASE: Spinocerebellar ataxia, autosomal recessive, 15 (SCAR15) [MIM:615705]: A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR15 patients manifest cerebellar ataxia in early childhood and delayed motor development with delayed walking. Additional features include dysarthria, upper limb involvement, abnormal eye movements, and hyporeflexia. {ECO:0000269|PubMed:20826435}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Inhibits PIK3C3 activity; under basal conditions negatively regulates PI3K complex II (PI3KC3-C2) function in autophagy. Negatively regulates endosome maturation and degradative endocytic trafficking and impairs autophagosome maturation process. Can sequester UVRAG from association with a class C Vps complex (possibly the HOPS complex) and negatively regulates Rab7 activation (PubMed:20974968, PubMed:21062745). {ECO:0000269|PubMed:20974968, ECO:0000269|PubMed:21062745}.; FUNCTION: Involved in regulation of pathogen-specific host defense of activated macrophages. Following bacterial infection promotes NADH oxidase activity by association with CYBA thereby affecting TLR2 signaling and probably other TLR-NOX pathways. Stabilizes the CYBA:CYBB NADPH oxidase heterodimer, increases its association with TLR2 and its phagosome trafficking to induce antimicrobial burst of ROS and production of inflammatory cytokines (PubMed:22423966). Following fungal or viral infection (implicating CLEC7A (dectin-1)-mediated myeloid cell activation or RIGI-dependent sensing of RNA viruses) negatively regulates pro-inflammatory cytokine production by association with CARD9 and sequestering it from signaling complexes (PubMed:22423967). {ECO:0000269|PubMed:22423966, ECO:0000269|PubMed:22423967}.
uniprot
proteins
mass_dalton
108622
uniprot
proteins
mutagenesis
MUTAGEN 248; /note="S->A: Disrupts interaction with YWHAB."; /evidence="ECO:0000269|PubMed:22423967"; MUTAGEN 912; /note="C->G: Disrupts interaction with Rab7, translocation to cytoplasm; when associated with G-915, L-920 and G-923."; /evidence="ECO:0000269|PubMed:20943950"; MUTAGEN 915; /note="C->G: Disrupts interaction with Rab7, translocation to cytoplasm; when associated with G-912, L-920 and G-923."; /evidence="ECO:0000269|PubMed:20943950"; MUTAGEN 920; /note="H->L: Disrupts interaction with Rab7, translocation to cytoplasm; when associated with G-912,G-915 and G-923."; /evidence="ECO:0000269|PubMed:20943950"; MUTAGEN 923; /note="C->G: Disrupts interaction with Rab7, translocation to cytoplasm; when associated with G-912, G-915 and L-920."; /evidence="ECO:0000269|PubMed:20943950
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16641997
uniprot
proteins
pubmed
18691976
uniprot
proteins
pubmed
19270696
uniprot
proteins
pubmed
19369195
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20826435
uniprot
proteins
pubmed
20943950
uniprot
proteins
pubmed
20974968
uniprot
proteins
pubmed
21062745
uniprot
proteins
pubmed
22423966
uniprot
proteins
pubmed
22423967
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
9039502
uniprot
proteins
sequence_length
972
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Late endosome {ECO:0000269|PubMed:19270696}. Lysosome {ECO:0000269|PubMed:19270696}. Early endosome {ECO:0000269|PubMed:19270696, ECO:0000269|PubMed:20974968}. Note=Predominantly located in late endosomes/lysosomes, only partially detected in early endosome and not at all in the Golgi apparatus.
uniprot
proteins