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BUD13 BUD13 homolog [ Homo sapiens (human) ]

Gene ID: 84811, updated on 3-Apr-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, Apr 2022]
Expression
Ubiquitous expression in testis (RPKM 10.5), lymph node (RPKM 6.1) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
11q23.3
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (116748173..116772987, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (116762809..116787613, complement)
105.20220307 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. 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
  2. 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
  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 (71) 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)

Genotypes

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 IBA
Inferred from Biological aspect of Ancestor
more info
  
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_2023_10

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.

Chemical Information
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