Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
84811
Gene name Gene Name - the full gene name approved by the HGNC.
BUD13 spliceosome associated protein
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
BUD13
Synonyms (NCBI Gene) Gene synonyms aliases
ACHPS, Cwc26, fSAP71
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q23.3
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT052474 hsa-let-7a-5p CLASH 23622248
MIRT827708 hsa-miR-1256 CLIP-seq
MIRT827709 hsa-miR-1323 CLIP-seq
MIRT827710 hsa-miR-1910 CLIP-seq
MIRT827711 hsa-miR-3065-5p CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000398 Process MRNA splicing, via spliceosome IBA 21873635
GO:0000398 Process MRNA splicing, via spliceosome IDA 29360106
GO:0000398 Process MRNA splicing, via spliceosome ISS 15565172
GO:0003723 Function RNA binding HDA 22658674
GO:0005515 Function Protein binding IPI 22365833, 25416956, 28514442, 31515488, 32296183
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
620691 28199 ENSG00000137656
Protein
UniProt ID Q9BRD0
Protein name BUD13 homolog
Protein 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 (Probable). {ECO:0000269|PubMed:29360106, ECO:0000269|PubMed:29361316, EC
PDB 5Z56 , 5Z57 , 5Z58 , 6FF4 , 6FF7 , 7ABI , 7DVQ , 7QTT , 8CH6 , 8I0P , 8I0R
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF09736 Bud13 460 602 Pre-mRNA-splicing factor of RES complex Family
Sequence
MAAAPPLSKAEYLKRYLSGADAGVDRGSESGRKRRKKRPKPGGAGGKGMRIVDDDVSWTA
ISTTKLEKEEEEDDGDLPVVAEFVDERPEEVKQMEAFRSSAKWKLLGGHNEDLPSNRHFR
HDTPDSSPRRVRHGTPDPSPRKDRHDTPDPSPRRARHDTPDPSPLRGARHDSDTSPPRRI
RHDSSDTSPPRRARHDSPDPSPPRRPQHNSSGASPRRVRHDSPDPSPPRRARHGSSDISS
PRRVHNNSPDTSRRTLGSSDTQQLRRARHDSPDLAPNVTYSLPRTKSGKAPERASSKTSP
HWKESGASHLSFPKNSKYEYDPDISPPRKKQAKSHFGDKKQLDSKGDCQKATDSDLSSPR
HKQSPGHQDSDSDLSPPRNRPRHRSSDSDLSPPRRRQRTKSSDSDLSPPRRSQPPGKKAA
HMYSGAKTGLVLTDIQREQQELKEQDQETMAFEAEFQYAETVFRDKSGRKRNLKLERLEQ
RRKAEKDSERDELYAQWGKGLAQSRQQQQNVEDAMKEMQKPLARYIDDEDLDRMLREQER
EGDPMANFIKKNKAKENKNKKVRPRYSGPAPPPNRFNIWPGYRWDGVDRSNGFEQKRFAR
LA
SKKAVEELAYKWSVEDM
Sequence length 619
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Metabolic syndrome Metabolic Syndrome X rs367643250, rs587777380, rs777736953 21386085
Unknown
Disease term Disease name Evidence References Source
Progeroid Syndrome progeroid syndrome GenCC
Metabolic Syndrome Metabolic Syndrome GWAS
Coronary artery disease Coronary artery disease GWAS
Associations from Text Mining
Disease Name Relationship Type References
Carcinogenesis Associate 37382881
Colorectal Neoplasms Associate 37382881
Coronary Artery Disease Associate 27257688, 28257648
Coronary Disease Associate 29339699
Cutis Laxa Autosomal Recessive Type IIB Associate 35670808
Developmental Disabilities Associate 35670808
Dyslipidemias Associate 27257688, 28610615
Hyperlipoproteinemia Type II Associate 28473662
Hypertriglyceridemia Associate 28473662
Lipodystrophy Associate 35670808