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    BUD13 BUD13 homolog [ Homo sapiens (human) ]

    Gene ID: 84811, updated on 3-Apr-2024

    Summary

    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
    NEW
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    Genomic context

    See BUD13 in Genome Data Viewer
    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    Preferred Names
    BUD13 homolog
    Names
    functional spliceosome-associated protein 71

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001159736.2NP_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:326467
      Bud13; Pre-mRNA-splicing factor of RES complex
    2. NM_032725.4NP_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:460601
      Bud13; Pre-mRNA-splicing factor of RES complex
      NF033845
      Location:136402
      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_011543035.3XP_011541337.1  BUD13 homolog isoform X1

      UniProtKB/TrEMBL
      A8K4Z6
      Conserved Domains (1) summary
      pfam09736
      Location:427568
      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_054370217.1XP_054226192.1  BUD13 homolog isoform X1