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    BUD13 BUD13 homolog [ Homo sapiens (human) ]

    Gene ID: 84811, updated on 14-Nov-2024

    Summary

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    Official Symbol
    BUD13provided by HGNC
    Official Full Name
    BUD13 homologprovided by HGNC
    Primary source
    HGNC:HGNC:28199
    See related
    Ensembl:ENSG00000137656 MIM:620691; AllianceGenome:HGNC:28199
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    Cwc26; fSAP71
    Summary
    Enables RNA binding activity. Involved in mRNA splicing, via spliceosome. Located in nucleoplasm. Part of U2-type precatalytic spliceosome. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in testis (RPKM 10.5), lymph node (RPKM 6.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See BUD13 in Genome Data Viewer
    Location:
    11q23.3
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (116748173..116772987, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (116762809..116787613, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (116618889..116643703, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984372 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:116507034-116507534 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:116511441-116512270 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:116512271-116513100 Neighboring gene long intergenic non-protein coding RNA 2702 Neighboring gene VISTA enhancer hs1632 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:116558341-116558903 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:116558904-116559465 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr11:116580386-116581272 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3921 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3922 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3923 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5554 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5555 Neighboring gene BUD13 divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3924 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:116658726-116658949 Neighboring gene enhancer-blocking element 11-1-2 overlapping APOA5 Neighboring gene ZPR1 zinc finger Neighboring gene apolipoprotein A5

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Impact of gender and age on the association of the BUD13-ZNF259 rs964184 polymorphism with coronary heart disease. Xu X, et al. Anatol J Cardiol, 2018 Jan. PMID 29339699, Free PMC Article
    2. Alternative splicing of BUD13 determines the severity of a developmental disorder with lipodystrophy and progeroid features. Kornak U, et al. Genet Med, 2022 Sep. PMID 35670808
    3. Association of BUD13 polymorphisms with metabolic syndrome in Chinese population: a case-control study. Zhang L, et al. Lipids Health Dis, 2017 Jun 28. PMID 28659142, Free PMC Article
    4. Differential Lipid Response to Statins Is Associated With Variants in the BUD13-APOA5 Gene Region. OʼBrien SE, et al. J Cardiovasc Pharmacol, 2015 Aug. PMID 25900265, Free PMC Article
    5. Association of the variants in the BUD13-ZNF259 genes and the risk of hyperlipidaemia. Aung LH, et al. J Cell Mol Med, 2014 Jul. PMID 24780069, Free PMC Article

    See all (77) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Alternative splicing of BUD13 determines the severity of a developmental disorder with lipodystrophy and progeroid features.
      Title: Alternative splicing of BUD13 determines the severity of a developmental disorder with lipodystrophy and progeroid features.
    2. Kernel machine SNP set analysis finds the association of BUD13, ZPR1, and APOA5 variants with metabolic syndrome in Tehran Cardio-metabolic Genetics Study.
      Title: Kernel machine SNP set analysis finds the association of BUD13, ZPR1, and APOA5 variants with metabolic syndrome in Tehran Cardio-metabolic Genetics Study.
    3. Long non-coding RNA DBH-AS1 promotes cancer progression in diffuse large B-cell lymphoma by targeting FN1 via RNA-binding protein BUD13.
      Title: Long non-coding RNA DBH-AS1 promotes cancer progression in diffuse large B-cell lymphoma by targeting FN1 via RNA-binding protein BUD13.
    4. Our results indicate that both gender and age have great impacts on the association of the rs964184 polymorphism with coronary heart disease among Chinese.
      Title: Impact of gender and age on the association of the BUD13-ZNF259 rs964184 polymorphism with coronary heart disease.
    5. Data concluded that novel mutations in BUD13 did not confer risk for MetS in our study population, but these mutations changed the level of metabolic complements.
      Title: Association of BUD13 polymorphisms with metabolic syndrome in Chinese population: a case-control study.
    6. by an integrated analysis of the genotypes and the serum levels of APOA5, BUD13 and triglyceride, we observed that BUD13 was another potential mediator, besides APOA5, of the association between rs651821 and serum triglyceride. rs671 (ALDH2), an east Asian-specific common variant, was found to be associated with MetS (Pcombined = 9.7 x 10(-22) ) in Han Chinese
      Title: Susceptibility loci for metabolic syndrome and metabolic components identified in Han Chinese: a multi-stage genome-wide association study.
    7. When the inter-dependence between alleles was examined using conditional models, five loci on BUD13, ZNF259, and ApoA5 showed possible independent associations.
      Title: Multiple susceptibility loci at chromosome 11q23.3 are associated with plasma triglyceride in East Asians.
    8. Single nucleotide polymorphisms (Rs17119975) of BUD13 protein did not increase the risk of CHD in the Chinese population.
      Title: Effects of Polymorphisms in APOA4-APOA5-ZNF259-BUD13 Gene Cluster on Plasma Levels of Triglycerides and Risk of Coronary Heart Disease in a Chinese Han Population.
    9. Common SNPs within the BUD13-APOA5 gene region can effect triglyceride and LDL cholesterol response to statin therapy.
      Title: Differential Lipid Response to Statins Is Associated With Variants in the BUD13-APOA5 Gene Region.
    10. Single nucleotide polymorphism bud13 gene is associated with hyperlipidaemia.
      Title: Association of the variants in the BUD13-ZNF259 genes and the risk of hyperlipidaemia.
    Submit: New GeneRIF Correction See all GeneRIFs (14)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium.
    EBI GWAS Catalog
    A genome-wide association study in the genetic analysis of idiopathic thrombophilia project suggests sex-specific regulation of mitochondrial DNA levels.
    EBI GWAS Catalog
    Amerindian-specific regions under positive selection harbour new lipid variants in Latinos.
    EBI GWAS Catalog
    An atlas of genetic influences on human blood metabolites.
    EBI GWAS Catalog
    Common human genetic variants and HIV-1 susceptibility: a genome-wide survey in a homogeneous African population.
    EBI GWAS Catalog
    Genetic variants influencing circulating lipid levels and risk of coronary artery disease.
    EBI GWAS Catalog
    Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis.
    EBI GWAS Catalog
    Genome-wide association study identifies common variants associated with circulating vitamin E levels.
    EBI GWAS Catalog
    Genome-wide association study identifies three common variants associated with serologic response to vitamin E supplementation in men.
    EBI GWAS Catalog
    Genome-wide scan identifies variation in MLXIPL associated with plasma triglycerides.
    EBI GWAS Catalog
    Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci.
    EBI GWAS Catalog
    Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.
    EBI GWAS Catalog
    Longitudinal genome-wide association of cardiovascular disease risk factors in the Bogalusa heart study.
    EBI GWAS Catalog
    Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.
    EBI GWAS Catalog
    THOC5: a novel gene involved in HDL-cholesterol metabolism.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ27090, MGC13125

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in U2-type prespliceosome assembly NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in mRNA splicing, via spliceosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mRNA splicing, via spliceosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in mRNA splicing, via spliceosome ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    involved_in mRNA splicing, via spliceosome NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of RES complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    part_of U2 snRNP NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    part_of U2-type precatalytic spliceosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of U2-type spliceosomal complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleus NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    part_of spliceosomal complex NAS
    Non-traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    BUD13 homolog
    Names
    functional spliceosome-associated protein 71

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001159736.2 → NP_001153208.1  BUD13 homolog isoform 2

      See identical proteins and their annotated locations for NP_001153208.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the middle portion of the coding region compared to variant 1. This results in a shorter protein (isoform 2) compared to isoform 1.
      Source sequence(s)
      AK057832, AK311068, CA432582
      Consensus CDS
      CCDS53712.1
      UniProtKB/Swiss-Prot
      Q9BRD0
      Related
      ENSP00000364594.3, ENST00000375445.7
      Conserved Domains (1) summary
      pfam09736
      Location:326 → 467
      Bud13; Pre-mRNA-splicing factor of RES complex

    2. NM_032725.4 → NP_116114.1  BUD13 homolog isoform 1

      See identical proteins and their annotated locations for NP_116114.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AK311068, BC006350
      Consensus CDS
      CCDS8374.1
      UniProtKB/Swiss-Prot
      A8K0S0, Q96LS7, Q9BRD0
      UniProtKB/TrEMBL
      A8K4Z6
      Related
      ENSP00000260210.3, ENST00000260210.5
      Conserved Domains (2) summary
      pfam09736
      Location:460 → 601
      Bud13; Pre-mRNA-splicing factor of RES complex
      NF033845
      Location:136 → 402
      MSCRAMM_ClfB; MSCRAMM family adhesin clumping factor ClfB

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      116748173..116772987 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011543035.3 → XP_011541337.1  BUD13 homolog isoform X1

      UniProtKB/TrEMBL
      A8K4Z6
      Conserved Domains (1) summary
      pfam09736
      Location:427 → 568
      Bud13; Pre-mRNA-splicing factor of RES complex

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      116762809..116787613 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054370217.1 → XP_054226192.1  BUD13 homolog isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BRD0.1 GenPept UniProtKB/Swiss-Prot:Q9BRD0

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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