BUD13 (BUD13 spliceosome associated protein)

Gene

• Entrez ID: 84811
• Gene name: BUD13 spliceosome associated protein
• Gene symbol: BUD13
• Synonyms (NCBI Gene): ACHPS, Cwc26, fSAP71
• Chromosome: 11
• Chromosome location: 11q23.3

miRNA

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
MIRT827712	hsa-miR-421	CLIP-seq
MIRT827713	hsa-miR-4264	CLIP-seq
MIRT827714	hsa-miR-4272	CLIP-seq
MIRT827715	hsa-miR-455-3p	CLIP-seq
MIRT827716	hsa-miR-4720-5p	CLIP-seq
MIRT827717	hsa-miR-4777-3p	CLIP-seq
MIRT827718	hsa-miR-4799-3p	CLIP-seq
MIRT827719	hsa-miR-548a-3p	CLIP-seq
MIRT827720	hsa-miR-548e	CLIP-seq
MIRT827721	hsa-miR-548f	CLIP-seq
MIRT827722	hsa-miR-548o	CLIP-seq
MIRT827710	hsa-miR-1910	CLIP-seq
MIRT827713	hsa-miR-4264	CLIP-seq
MIRT827715	hsa-miR-455-3p	CLIP-seq
MIRT827717	hsa-miR-4777-3p	CLIP-seq
MIRT2487103	hsa-miR-1228	CLIP-seq
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
MIRT2487104	hsa-miR-3182	CLIP-seq
MIRT827712	hsa-miR-421	CLIP-seq
MIRT827713	hsa-miR-4264	CLIP-seq
MIRT827714	hsa-miR-4272	CLIP-seq
MIRT827715	hsa-miR-455-3p	CLIP-seq
MIRT2487105	hsa-miR-4659a-3p	CLIP-seq
MIRT2487106	hsa-miR-4659b-3p	CLIP-seq
MIRT827716	hsa-miR-4720-5p	CLIP-seq
MIRT827717	hsa-miR-4777-3p	CLIP-seq
MIRT827718	hsa-miR-4799-3p	CLIP-seq
MIRT827719	hsa-miR-548a-3p	CLIP-seq
MIRT827720	hsa-miR-548e	CLIP-seq
MIRT827721	hsa-miR-548f	CLIP-seq
MIRT827722	hsa-miR-548o	CLIP-seq
MIRT2487107	hsa-miR-552	CLIP-seq
MIRT2487103	hsa-miR-1228	CLIP-seq
MIRT827710	hsa-miR-1910	CLIP-seq
MIRT827713	hsa-miR-4264	CLIP-seq
MIRT827715	hsa-miR-455-3p	CLIP-seq
MIRT827717	hsa-miR-4777-3p	CLIP-seq
MIRT2487107	hsa-miR-552	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000398	Process	MRNA splicing, via spliceosome	IBA
GO:0000398	Process	MRNA splicing, via spliceosome	IDA	29360106
GO:0000398	Process	MRNA splicing, via spliceosome	IMP	35670808
GO:0000398	Process	MRNA splicing, via spliceosome	ISS	15565172
GO:0000398	Process	MRNA splicing, via spliceosome	NAS	31744343
GO:0003723	Function	RNA binding	HDA	22658674
GO:0005515	Function	Protein binding	IPI	22365833, 25416956, 28514442, 31515488, 32296183, 33961781, 39251607
GO:0005634	Component	Nucleus	IDA	29360106
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	IMP	35670808
GO:0005634	Component	Nucleus	NAS	31744343
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005681	Component	Spliceosomal complex	IEA
GO:0005681	Component	Spliceosomal complex	NAS	31744343
GO:0005684	Component	U2-type spliceosomal complex	IBA
GO:0005686	Component	U2 snRNP	NAS	31744343
GO:0006397	Process	MRNA processing	IEA
GO:0008380	Process	RNA splicing	IEA
GO:0070274	Component	RES complex	ISS	15565172
GO:0071005	Component	U2-type precatalytic spliceosome	IDA	29360106
GO:1903241	Process	U2-type prespliceosome assembly	NAS	31744343

Other IDs

• MIM: 620691
• HGNC: 28199
• e!Ensembl: 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
  LASKKAVEELAYKWSVEDM

• Sequence length: 619

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CARDIOVASCULAR DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTRIGLYCERIDEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-ALCOHOLIC FATTY LIVER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Carcinogenesis	Carcinogenesis	Pubtator	37382881	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	37382881	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	26397108, 29339699		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	26397108, 27257688, 29339699		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	Pubtator	27257688, 28257648	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Disease	Coronary artery disease	Pubtator	29339699	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	26397108, 29339699		★☆☆☆☆ Found in Text Mining only
Cutis Laxa Autosomal Recessive Type IIB	Cutis laxa	Pubtator	35670808	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	35670808	Associate	★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	Pubtator	27257688, 28610615	Associate	★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	BEFREE	28610615, 30631647		★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	BEFREE	24780069		★☆☆☆☆ Found in Text Mining only
Hyperlipidemia	Hyperlipidemia	BEFREE	24780069		★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type II	Hyperlipoproteinemia	Pubtator	28473662	Associate	★☆☆☆☆ Found in Text Mining only
Hypertriglyceridemia	Hypertriglyceridemia	Pubtator	28473662	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypochondroplasia (disorder)	Hypochondroplasia	BEFREE	24780069		★☆☆☆☆ Found in Text Mining only
Lipodystrophy	Lipodystrophy	Pubtator	35670808	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	24623848		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	22170361, 27827461, 28659142, 31910446, 33986338, 38201907	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Metabolic Syndrome X	Metabolic Syndrome	GWASCAT_DG	21386085		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	GWASDB_DG	21386085		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	22170361, 27827461, 28371326, 28659142		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	31662442	Associate	★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	24623848		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	34861864	Associate	★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	22170361		★☆☆☆☆ Found in Text Mining only
Vesicular Stomatitis	Vesicular Stomatitis	BEFREE	30639243		★☆☆☆☆ Found in Text Mining only