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BUD13 BUD13 homolog [ Homo sapiens (human) ]

Gene ID: 84811, updated on 18-Jan-2021

Summary

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
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Genomic context

See BUD13 in Genome Data Viewer
Location:
11q23.3
Exon count:
11
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (116748170..116772987, 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

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

Associated conditions

Description Tests
A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium.
GeneReviews: Not available
A genome-wide association study in the genetic analysis of idiopathic thrombophilia project suggests sex-specific regulation of mitochondrial DNA levels.
GeneReviews: Not available
Amerindian-specific regions under positive selection harbour new lipid variants in Latinos.
GeneReviews: Not available
An atlas of genetic influences on human blood metabolites.
GeneReviews: Not available
Common human genetic variants and HIV-1 susceptibility: a genome-wide survey in a homogeneous African population.
GeneReviews: Not available
Genetic variants influencing circulating lipid levels and risk of coronary artery disease.
GeneReviews: Not available
Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis.
GeneReviews: Not available
Genome-wide association study identifies common variants associated with circulating vitamin E levels.
GeneReviews: Not available
Genome-wide association study identifies three common variants associated with serologic response to vitamin E supplementation in men.
GeneReviews: Not available
Genome-wide scan identifies variation in MLXIPL associated with plasma triglycerides.
GeneReviews: Not available
Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci.
GeneReviews: Not available
Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.
GeneReviews: Not available
Longitudinal genome-wide association of cardiovascular disease risk factors in the Bogalusa heart study.
GeneReviews: Not available
Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.
GeneReviews: Not available
THOC5: a novel gene involved in HDL-cholesterol metabolism.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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_001159736.2NP_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
    Q9BRD0
    Related
    ENSP00000260210.3, ENST00000260210.5
    Conserved Domains (2) summary
    PHA03307
    Location:114419
    PHA03307; transcriptional regulator ICP4; Provisional
    pfam09736
    Location:464601
    Bud13; Pre-mRNA-splicing factor of RES complex

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

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

mRNA and Protein(s)

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

    Conserved Domains (1) summary
    pfam09736
    Location:427568
    Bud13; Pre-mRNA-splicing factor of RES complex
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