BUD13 Gene (Protein Coding)

BUD13 Homolog

GC11M116749
GIFtS:
37
See more...

Aliases for BUD13 Gene

Aliases for BUD13 Gene

  • BUD13 Homolog 2 3 4 5
  • Functional Spliceosome-Associated Protein 71 2 3
  • FSAP71 2 3
  • Cwc26 2 3
  • BUD13 Homolog (S. Cerevisiae) 2
  • BUD13 Homolog (Yeast) 2
  • MGC13125 2
  • BUD13 5

External Ids for BUD13 Gene

Previous GeneCards Identifiers for BUD13 Gene

  • GC11M116125
  • GC11M116618
  • GC11M112550

Summaries for BUD13 Gene

GeneCards Summary for BUD13 Gene

BUD13 (BUD13 Homolog) is a Protein Coding gene. Diseases associated with BUD13 include Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2.

UniProtKB/Swiss-Prot Summary for BUD13 Gene

  • Involved in pre-mRNA splicing as component of the activated spliceosome.

Additional gene information for BUD13 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for BUD13 Gene

Genomics for BUD13 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for BUD13 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BUD13 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for BUD13

Top Transcription factor binding sites by QIAGEN in the BUD13 gene promoter:
  • HNF-4alpha1
  • HNF-4alpha2
  • PPAR-alpha
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for BUD13 Gene

Latest Assembly
chr11:116,748,170-116,772,987
(GRCh38/hg38)
Size:
24,818 bases
Orientation:
Minus strand

Previous Assembly
chr11:116,618,889-116,643,703
(GRCh37/hg19 by Entrez Gene)
Size:
24,815 bases
Orientation:
Minus strand

chr11:116,618,886-116,643,704
(GRCh37/hg19 by Ensembl)
Size:
24,819 bases
Orientation:
Minus strand

Genomic View for BUD13 Gene

Genes around BUD13 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BUD13 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BUD13 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for BUD13 Gene

Proteins for BUD13 Gene

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  1. Antibodies for research
  2. Protein products for research
  3. Assay products for research

  • Protein details for BUD13 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BRD0-BUD13_HUMAN
    Recommended name:
    BUD13 homolog
    Protein Accession:
    Q9BRD0
    Secondary Accessions:
    • A8K0S0
    • Q96LS7

    Protein attributes for BUD13 Gene

    Size:
    619 amino acids
    Molecular mass:
    70521 Da
    Quaternary structure:
    • Part of the activated spliceosome B/catalytic step 1 spliceosome, one of the forms of the spliceosome which has a well-formed active site but still cannot catalyze the branching reaction and is composed of at least 52 proteins, the U2, U5 and U6 snRNAs and the pre-mRNA.

    Three dimensional structures from OCA and Proteopedia for BUD13 Gene

    Alternative splice isoforms for BUD13 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BUD13 Gene

Protein Expression for BUD13 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for BUD13 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for BUD13 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

  • Abcam antibodies for BUD13

No data available for DME Specific Peptides for BUD13 Gene

Domains & Families for BUD13 Gene

Gene Families for BUD13 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for BUD13 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for BUD13 Gene

GenScript: Design optimal peptide antigens:
  • BUD13 homolog (BUD13_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9BRD0

UniProtKB/Swiss-Prot:

BUD13_HUMAN :
  • Belongs to the CWC26 family.
Family:
  • Belongs to the CWC26 family.
genes like me logo Genes that share domains with BUD13: view

Function for BUD13 Gene

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  1. Animal Models for research
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  3. miRNA products for research
  4. Inhibitory RNAs for research
  5. Clone products for research
  6. Cell Lines for research

Molecular function for BUD13 Gene

UniProtKB/Swiss-Prot Function:
Involved in pre-mRNA splicing as component of the activated spliceosome.

Phenotypes From GWAS Catalog for BUD13 Gene

Gene Ontology (GO) - Molecular Function for BUD13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA 22658674
GO:0005515 protein binding IPI 22365833
genes like me logo Genes that share ontologies with BUD13: view
genes like me logo Genes that share phenotypes with BUD13: view

Animal Models for research

miRNA for BUD13 Gene

miRTarBase miRNAs that target BUD13

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BUD13

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for BUD13 Gene

Localization for BUD13 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BUD13 Gene

Nucleus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BUD13 gene
Compartment Confidence
nucleus 5
extracellular 2
cytosol 2
plasma membrane 1
golgi apparatus 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for BUD13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 29360106
GO:0005654 nucleoplasm IDA --
GO:0005681 spliceosomal complex IEA --
GO:0005684 U2-type spliceosomal complex IBA 21873635
GO:0070274 RES complex IBA,ISS 15565172
genes like me logo Genes that share ontologies with BUD13: view

Pathways & Interactions for BUD13 Gene

PathCards logo

SuperPathways for BUD13 Gene

No Data Available

Gene Ontology (GO) - Biological Process for BUD13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000398 mRNA splicing, via spliceosome ISS 15565172
GO:0006397 mRNA processing IEA --
GO:0008380 RNA splicing IEA --
genes like me logo Genes that share ontologies with BUD13: view

No data available for Pathways by source and SIGNOR curated interactions for BUD13 Gene

Drugs & Compounds for BUD13 Gene

Products:

  1. Drug products for research
No Compound Related Data Available

Transcripts for BUD13 Gene

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  1. CRISPR products for research
  2. miRNA products for research
  3. Inhibitory RNAs for research
  4. Clone products for research

mRNA/cDNA for BUD13 Gene

2 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BUD13

Alternative Splicing Database (ASD) splice patterns (SP) for BUD13 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b
SP1:
SP2: -
SP3: -

Relevant External Links for BUD13 Gene

GeneLoc Exon Structure for
BUD13

Expression for BUD13 Gene

Products:

  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for BUD13 Gene

mRNA expression in normal human tissues for BUD13 Gene
mRNA expression by GTEx for BUD13 GenemRNA expression by BioGPS for BUD13 Gene

Protein differential expression in normal tissues from HIPED for BUD13 Gene

This gene is overexpressed in Plasma (36.4) and Peripheral blood mononuclear cells (14.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for BUD13 Gene



Protein tissue co-expression partners for BUD13 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for BUD13

SOURCE GeneReport for Unigene cluster for BUD13 Gene:

Hs.437341

Evidence on tissue expression from TISSUES for BUD13 Gene

  • Liver(4.6)
  • Nervous system(4.4)
  • Muscle(4.3)
  • Kidney(2.6)
  • Skin(2.1)
  • Pancreas(2.1)
  • Lymph node(2.1)
genes like me logo Genes that share expression patterns with BUD13: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for BUD13 Gene

Orthologs for BUD13 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for BUD13 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia BUD13 30 31
  • 99.57 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia BUD13 30 31
  • 86.03 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia BUD13 31
  • 84 (a)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Bud13 30 17 31
  • 82.27 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Bud13 30
  • 81.12 (n)
Platypus
(Ornithorhynchus anatinus)
 Mammalia BUD13 31
  • 63 (a)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia BUD13 31
  • 54 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves -- 31
  • 69 (a)
 OneToMany
BUD13 30 31
  • 64.36 (n)
 OneToMany
Lizard
(Anolis carolinensis)
 Reptilia BUD13 31
  • 52 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia bud13 30
  • 56.43 (n)
Str.15096 30
African clawed frog
(Xenopus laevis)
 Amphibia Xl.29018 30
Zebrafish
(Danio rerio)
 Actinopterygii BUD13 31
  • 53 (a)
 OneToOne
wufi47e11 30
Rainbow Trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.14099 30
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP011249 30
  • 46.68 (n)
Fruit Fly
(Drosophila melanogaster)
 Insecta CG13625 30 31
  • 45.99 (n)
 OneToOne
Worm
(Caenorhabditis elegans)
 Secernentea R08D7.1 30 31
  • 46.06 (n)
 OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes BUD13 33
Sea Squirt
(Ciona savignyi)
 Ascidiacea CSA.9379 31
  • 40 (a)
 OneToOne
Species where no ortholog for BUD13 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for BUD13 Gene

ENSEMBL:
Gene Tree for BUD13 (if available)
TreeFam:
Gene Tree for BUD13 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for BUD13: view image

Paralogs for BUD13 Gene

Pseudogenes.org Pseudogenes for BUD13 Gene

genes like me logo Genes that share paralogs with BUD13: view

No data available for Paralogs for BUD13 Gene

Variants for BUD13 Gene

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  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for BUD13 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
rs35004487 Benign: not provided. - 116,760,826(-) G/Cp.Ser388Cys
NM_032725.4(BUD13):c.1163C>G (p.Ser388Cys) 		MISSENSE
rs10488698 - p.Arg120Cys
rs11216131 - p.Arg242Ile
rs11820589 - p.Pro148Leu

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for BUD13 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for BUD13 Gene

Variant ID Type Subtype PubMed ID
nsv1047727 CNV loss 25217958
nsv507 CNV deletion 18451855

Variation tolerance for BUD13 Gene

Residual Variation Intolerance Score: 59.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.21; 81.01% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BUD13 Gene

Human Gene Mutation Database (HGMD)
BUD13
SNPedia medical, phenotypic, and genealogical associations of SNPs for
BUD13

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BUD13 Gene

Disorders for BUD13 Gene

MalaCards: The human disease database

(1) MalaCards diseases for BUD13 Gene - From: COP

- elite association - COSMIC cancer census association via MalaCards
Search BUD13 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for BUD13

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with BUD13: view

No data available for UniProtKB/Swiss-Prot and Genatlas for BUD13 Gene

Publications for BUD13 Gene

  1. Structure of the human activated spliceosome in three conformational states. (PMID: 29360106) Zhang X … Shi Y (Cell research 2018) 3 4
  2. Cooperative structure of the heterotrimeric pre-mRNA retention and splicing complex. (PMID: 25218446) Wysoczański P … Zweckstetter M (Nature structural & molecular biology 2014) 2 3
  3. A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium. (PMID: 21386085) Kraja AT … Borecki IB (Diabetes 2011) 3 41
  4. Evaluating the discriminative power of multi-trait genetic risk scores for type 2 diabetes in a northern Swedish population. (PMID: 20571754) Fontaine-Bisson B … Franks PW (Diabetologia 2010) 3 41
  5. Genome-wide association study of Lp-PLA(2) activity and mass in the Framingham Heart Study. (PMID: 20442857) Suchindran S … McCarthy JJ (PLoS genetics 2010) 3 41

ExternalLinks

View latest publications for BUD13 gene in Mastermind

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Sources for BUD13 Gene