BUD13
entrez
84811
canonical
uniprot
Q9BRD0
canonical
ensembl
ENSG00000137656
resolver
ensp
ENSP00000260210
resolver
ensp
ENSP00000364594
resolver
genesymbol
BUD13
resolver
hgnc
HGNC:28199
resolver
uniprot
A8K0S0
resolver
uniprot
Q96LS7
resolver
uniprot_entry
BUD13_HUMAN
resolver
uniprot_sec
A8K0S0
resolver
uniprot_sec
Q96LS7
resolver
amino_acid_sequence
MAAAPPLSKAEYLKRYLSGADAGVDRGSESGRKRRKKRPKPGGAGGKGMRIVDDDVSWTAISTTKLEKEEEEDDGDLPVVAEFVDERPEEVKQMEAFRSSAKWKLLGGHNEDLPSNRHFRHDTPDSSPRRVRHGTPDPSPRKDRHDTPDPSPRRARHDTPDPSPLRGARHDSDTSPPRRIRHDSSDTSPPRRARHDSPDPSPPRRPQHNSSGASPRRVRHDSPDPSPPRRARHGSSDISSPRRVHNNSPDTSRRTLGSSDTQQLRRARHDSPDLAPNVTYSLPRTKSGKAPERASSKTSPHWKESGASHLSFPKNSKYEYDPDISPPRKKQAKSHFGDKKQLDSKGDCQKATDSDLSSPRHKQSPGHQDSDSDLSPPRNRPRHRSSDSDLSPPRRRQRTKSSDSDLSPPRRSQPPGKKAAHMYSGAKTGLVLTDIQREQQELKEQDQETMAFEAEFQYAETVFRDKSGRKRNLKLERLEQRRKAEKDSERDELYAQWGKGLAQSRQQQQNVEDAMKEMQKPLARYIDDEDLDRMLREQEREGDPMANFIKKNKAKENKNKKVRPRYSGPAPPPNRFNIWPGYRWDGVDRSNGFEQKRFARLASKKAVEELAYKWSVEDM
uniprot
proteins
disease_involvement
DISEASE: Achalasia-progeroid syndrome (ACHPS) [MIM:621123]: An autosomal recessive syndrome characterized by lipodystrophy with onset in childhood, progeroid appearance, corneal clouding, achalasia, progressive hearing loss, and variable severity. Some affected individuals manifest stunted growth and intellectual disability, and death within the first decade of life has been reported. {ECO:0000269|PubMed:35670808}. Note=The disease is caused by variants affecting the gene represented in this entry. A nonsense substitution NM_032725.4:c.688C>T, predicted to result in variant p.Arg230Ter, was found in 5 patients. This variant protein as such could not be detected in patients cells, possibly due to nonsense-mediated mRNA decay. However, this variant also affects BUD13 splicing and results in the production of a stable, disease-associated isoform p.Arg230_Arg284del. Expression of p.Arg230_Arg284del inversely correlates with disease severity and life expectancy. Patients with high p.Arg230_Arg284del levels have a milder disease course and survive into adulthood. {ECO:0000269|PubMed:35670808}.
uniprot
proteins
function
FUNCTION: Involved in pre-mRNA splicing as component of the activated spliceosome. As a component of the minor spliceosome, involved in the splicing of U12-type introns in pre-mRNAs. {ECO:0000269|PubMed:29360106, ECO:0000269|PubMed:29361316, ECO:0000269|PubMed:35670808, ECO:0000305|PubMed:33509932}.
uniprot
proteins
mass_dalton
70521
uniprot
proteins
protein_family
CWC26 family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15592455
uniprot
proteins
pubmed
16964243
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
18220336
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25218447
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
29360106
uniprot
proteins
pubmed
29361316
uniprot
proteins
pubmed
33509932
uniprot
proteins
pubmed
35670808
uniprot
proteins
sequence_length
619
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:29360106, ECO:0000269|PubMed:29361316, ECO:0000269|PubMed:35670808}.
uniprot
proteins