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BUD13 BUD13 homolog [ Homo sapiens (human) ]

Gene ID: 84811, updated on 11-Sep-2019

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
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
Expression
Ubiquitous expression in testis (RPKM 10.5), lymph node (RPKM 6.1) and 25 other tissues See more
Orthologs
mouse all

Genomic context

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See BUD13 in Genome Data Viewer
Location:
11q23.3
Exon count:
11
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (116748170..116772998, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (116618886..116643714, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984372 Neighboring gene long intergenic non-protein coding RNA 2702 Neighboring gene VISTA enhancer hs1632 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. 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
  3. 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
  4. 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
  5. Susceptibility loci for metabolic syndrome and metabolic components identified in Han Chinese: a multi-stage genome-wide association study. Zhu Y, et al. J Cell Mol Med, 2017 Jun. PMID 28371326, Free PMC Article

See all (49) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. Single nucleotide polymorphism bud13 gene is associated with hyperlipidaemia.
    Title: Association of the variants in the BUD13-ZNF259 genes and the risk of hyperlipidaemia.
  8. Significant linkage disequilibria were noted among ZNF259, BUD13 and MLXIPL SNPs and serum lipid levels.
    Title: Association between the MLX interacting protein-like, BUD13 homolog and zinc finger protein 259 gene polymorphisms and serum lipid levels.
  9. Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
    Title: Evaluating the discriminative power of multi-trait genetic risk scores for type 2 diabetes in a northern Swedish population.
  10. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
    Title: Genome-wide association study of Lp-PLA(2) activity and mass in the Framingham Heart Study.
Submit: New GeneRIF Correction See all GeneRIFs (11)

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

NHGRI GWAS Catalog

Description
A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium.
NHGRI GWA Catalog
A genome-wide association study in the genetic analysis of idiopathic thrombophilia project suggests sex-specific regulation of mitochondrial DNA levels.
NHGRI GWA Catalog
Amerindian-specific regions under positive selection harbour new lipid variants in Latinos.
NHGRI GWA Catalog
An atlas of genetic influences on human blood metabolites.
NHGRI GWA Catalog
Common human genetic variants and HIV-1 susceptibility: a genome-wide survey in a homogeneous African population.
NHGRI GWA Catalog
Genetic variants influencing circulating lipid levels and risk of coronary artery disease.
NHGRI GWA Catalog
Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis.
NHGRI GWA Catalog
Genome-wide association study identifies common variants associated with circulating vitamin E levels.
NHGRI GWA Catalog
Genome-wide association study identifies three common variants associated with serologic response to vitamin E supplementation in men.
NHGRI GWA Catalog
Genome-wide scan identifies variation in MLXIPL associated with plasma triglycerides.
NHGRI GWA Catalog
Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci.
NHGRI GWA Catalog
Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.
NHGRI GWA Catalog
Longitudinal genome-wide association of cardiovascular disease risk factors in the Bogalusa heart study.
NHGRI GWA Catalog
Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.
NHGRI GWA Catalog
THOC5: a novel gene involved in HDL-cholesterol metabolism.
NHGRI GWA 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
RNA binding HDA PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
mRNA splicing, via spliceosome IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
mRNA splicing, via spliceosome IDA
Inferred from Direct Assay
more info
 PubMed 
mRNA splicing, via spliceosome ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
Component Evidence Code Pubs
RES complex IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
RES complex ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
U2-type precatalytic spliceosome IDA
Inferred from Direct Assay
more info
 PubMed 
U2-type spliceosomal complex IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
nucleus IDA
Inferred from Direct Assay
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_001159736.1 → 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, BU731866, CA432582, DA042987
    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
    Q9BRD0
    Related
    ENSP00000260210.3, ENST00000260210.5
    Conserved Domains (2) summary
    PHA03307
    Location:114 → 419
    PHA03307; transcriptional regulator ICP4; Provisional
    pfam09736
    Location:464 → 601
    Bud13; Pre-mRNA-splicing factor of RES complex

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    116748170..116772998 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011543035.2 → XP_011541337.1  BUD13 homolog isoform X1

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