This gene represents readthrough transcription between the genes BUB1B (mitotic checkpoint serine/threonine-protein kinase BUB1 beta) and PAK6 (serine/threonine-protein kinase PAK 6). The protein encoded by the readthrough transcripts is the same as the product of the downstream gene (PAK6). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec ... See more...

Aliases for BUB1B-PAK6 Gene

Aliases for BUB1B-PAK6 Gene

  • BUB1B-PAK6 Readthrough 2 3 5 13
  • Serine/Threonine-Protein Kinase PAK 6 3
  • P21-Activated Kinase 6 3
  • BUB1B-PAK6 5
  • PAK-5 3
  • PAK-6 3
  • PAK5 3
  • PAK6 3

External Ids for BUB1B-PAK6 Gene

Summaries for BUB1B-PAK6 Gene

Entrez Gene Summary for BUB1B-PAK6 Gene

  • This gene represents readthrough transcription between the genes BUB1B (mitotic checkpoint serine/threonine-protein kinase BUB1 beta) and PAK6 (serine/threonine-protein kinase PAK 6). The protein encoded by the readthrough transcripts is the same as the product of the downstream gene (PAK6). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]

GeneCards Summary for BUB1B-PAK6 Gene

BUB1B-PAK6 (BUB1B-PAK6 Readthrough) is a Protein Coding gene. Diseases associated with BUB1B-PAK6 include Mosaic Variegated Aneuploidy Syndrome 1 and Mosaic Variegated Aneuploidy Syndrome. Among its related pathways are Androgen receptor signaling pathway and Ras signaling pathway. An important paralog of this gene is BUB1B.

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for BUB1B-PAK6 Gene

Genomics for BUB1B-PAK6 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for BUB1B-PAK6 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH15J040218 Enhancer 0.7 ENCODE 250.7 -0.1 -63 0.2 ZNF654 CTCF REST TRIM22 ELF1 RAD21 RFX5 SMC3 ZNF2 ZNF384 BUB1B-PAK6 HSALNG0105206 PAK6 BUB1B HSALNG0105205 LOC107984763
GH15J040217 Enhancer 0.6 ENCODE 250.7 +0.1 57 0 ZNF654 CTCF REST TRIM22 ELF1 RAD21 RFX5 SMC3 ZNF2 ZNF384 BUB1B-PAK6 HSALNG0105206 PAK6 ENSG00000273786 LOC107984763 BUB1B ANKRD63
GH15J040238 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 0.4 +22.6 22588 3.2 ATF2 ZIC2 POLR2A CEBPB REST MAX ZEB2 TAF1 IKZF1 BMI1 LOC107984763 PAK6 RAD51-AS1 SRP14-AS1 lnc-BUB1B-2 BUB1B-PAK6 ANKRD63
GH15J040160 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 0.2 -55.3 -55262 3.7 BCLAF1 SP1 ZNF207 NCOR1 IKZF1 MYC ZNF600 SIX5 ZNF580 ZNF592 BUB1B INO80 BMF SRP14 SRP14-AS1 RAD51-AS1 EIF2AK4 DNAJC17 ENSG00000259211 HSALNG0105203
GH15J040251 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE dbSUPER 0.3 +35.1 35070 2.2 GABPB1 BACH1 ZFX EGR2 LARP7 USF1 EZH2 PAK6-AS1 PAK6 HSALNG0105209 ANKRD63 BUB1B-PAK6
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BUB1B-PAK6 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for BUB1B-PAK6

Genomic Locations for BUB1B-PAK6 Gene

Latest Assembly
chr15:40,217,428-40,277,487
(GRCh38/hg38)
Size:
60,060 bases
Orientation:
Plus strand

Previous Assembly
chr15:40,509,629-40,569,688
(GRCh37/hg19 by Entrez Gene)
Size:
60,060 bases
Orientation:
Plus strand

chr15:40,509,629-40,568,597
(GRCh37/hg19 by Ensembl)
Size:
58,969 bases
Orientation:
Plus strand

Genomic View for BUB1B-PAK6 Gene

Genes around BUB1B-PAK6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BUB1B-PAK6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BUB1B-PAK6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BUB1B-PAK6 Gene

Proteins for BUB1B-PAK6 Gene

  • Protein details for BUB1B-PAK6 Gene (UniProtKB/TrEMBL)

    Protein Symbol:
    H3BTB9-H3BTB9_HUMAN
    Recommended name:
    BUB1B-PAK6 readthrough
    Protein Accession:
    H3BTB9

    Protein attributes for BUB1B-PAK6 Gene

    Size:
    141 amino acids
    Molecular mass:
    15993 Da
    Quaternary structure:
    No Data Available

neXtProt entry for BUB1B-PAK6 Gene

Post-translational modifications for BUB1B-PAK6 Gene

No Post-translational modifications

Other Protein References for BUB1B-PAK6 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for BUB1B-PAK6 Gene

Domains & Families for BUB1B-PAK6 Gene

Gene Families for BUB1B-PAK6 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for BUB1B-PAK6 Gene

InterPro:
genes like me logo Genes that share domains with BUB1B-PAK6: view

No data available for Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for BUB1B-PAK6 Gene

Function for BUB1B-PAK6 Gene

Phenotypes From GWAS Catalog for BUB1B-PAK6 Gene

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for BUB1B-PAK6 Gene

Localization for BUB1B-PAK6 Gene

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 BUB1B-PAK6 gene
Compartment Confidence
nucleus 5
cytoskeleton 2
plasma membrane 1
extracellular 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
cytosol 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cell Junctions (2)
  • Nucleoli fibrillar center (2)
  • Nucleoplasm (2)
See all subcellular structures

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for BUB1B-PAK6 Gene

Pathways & Interactions for BUB1B-PAK6 Gene

genes like me logo Genes that share pathways with BUB1B-PAK6: view

Interacting Proteins for BUB1B-PAK6 Gene

Gene Ontology (GO) - Biological Process for BUB1B-PAK6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007094 mitotic spindle assembly checkpoint IEA --
genes like me logo Genes that share ontologies with BUB1B-PAK6: view

No data available for SIGNOR curated interactions for BUB1B-PAK6 Gene

Drugs & Compounds for BUB1B-PAK6 Gene

No Compound Related Data Available

Transcripts for BUB1B-PAK6 Gene

mRNA/cDNA for BUB1B-PAK6 Gene

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

Alternative Splicing Database (ASD) splice patterns (SP) for BUB1B-PAK6 Gene

No ASD Table

Relevant External Links for BUB1B-PAK6 Gene

GeneLoc Exon Structure for
BUB1B-PAK6

Expression for BUB1B-PAK6 Gene

Evidence on tissue expression from TISSUES for BUB1B-PAK6 Gene

  • Nervous system(4.3)
No Expression Related Data Available

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for BUB1B-PAK6 Gene

Orthologs for BUB1B-PAK6 Gene

Evolution for BUB1B-PAK6 Gene

ENSEMBL:
Gene Tree for BUB1B-PAK6 (if available)
TreeFam:
Gene Tree for BUB1B-PAK6 (if available)
Alliance of Genome Resources:
Additional Orthologs for BUB1B-PAK6

No data available for Orthologs for BUB1B-PAK6 Gene

Paralogs for BUB1B-PAK6 Gene

Paralogs for BUB1B-PAK6 Gene

genes like me logo Genes that share paralogs with BUB1B-PAK6: view

Variants for BUB1B-PAK6 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for BUB1B-PAK6 Gene

SNP ID Clinical significance and condition Chr 15 pos Variation AA Info Type
1000462 Uncertain Significance: Mosaic variegated aneuploidy syndrome 40,217,594(+) C/T
NM_001211.6(BUB1B):c.2777C>T (p.Thr926Ile)
MISSENSE_VARIANT,FIVE_PRIME_UTR
1001856 Uncertain Significance: Mosaic variegated aneuploidy syndrome 40,217,608(+) C/T
NM_001211.6(BUB1B):c.2791C>T (p.Arg931Trp)
MISSENSE_VARIANT,FIVE_PRIME_UTR
1008939 Uncertain Significance: Mosaic variegated aneuploidy syndrome 40,218,509(+) C/A
NM_001211.6(BUB1B):c.2904C>A (p.His968Gln)
MISSENSE_VARIANT,INTRON
1024842 Uncertain Significance: Mosaic variegated aneuploidy syndrome 40,218,502(+) A/G
NM_001211.6(BUB1B):c.2897A>G (p.Lys966Arg)
MISSENSE_VARIANT,INTRON
1026235 Uncertain Significance: Mosaic variegated aneuploidy syndrome 40,217,562(+) T/A
NM_001211.6(BUB1B):c.2745T>A (p.Ser915Arg)
MISSENSE_VARIANT,FIVE_PRIME_UTR

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for BUB1B-PAK6 Gene

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

Additional Variant Information for BUB1B-PAK6 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
BUB1B-PAK6
Leiden Open Variation Database (LOVD)
BUB1B-PAK6

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Structural Variations from Database of Genomic Variants (DGV) and Variation tolerance for BUB1B-PAK6 Gene

Disorders for BUB1B-PAK6 Gene

MalaCards: The human disease database

(5) MalaCards diseases for BUB1B-PAK6 Gene - From: CVR, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for BUB1B-PAK6

genes like me logo Genes that share disorders with BUB1B-PAK6: view

No data available for UniProtKB/Swiss-Prot and Genatlas for BUB1B-PAK6 Gene

Publications for BUB1B-PAK6 Gene

  1. p21-Activated kinase 6 (PAK6) inhibits prostate cancer growth via phosphorylation of androgen receptor and tumorigenic E3 ligase murine double minute-2 (Mdm2). (PMID: 23132866) Liu T … Li F (The Journal of biological chemistry 2013) 3
  2. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (PMID: 23251661) Comuzzie AG … Butte NF (PloS one 2012) 3
  3. Pak6 protein kinase is a novel effector of an atypical Rho family GTPase Chp/RhoV. (PMID: 22339630) Shepelev MV … Korobko IV (Biochemistry. Biokhimiia 2012) 3
  4. The emerging importance of group II PAKs. (PMID: 20070256) Wells CM … Jones GE (The Biochemical journal 2010) 3
  5. Group I p21-activated kinases regulate thyroid cancer cell migration and are overexpressed and activated in thyroid cancer invasion. (PMID: 20817787) McCarty SK … Ringel MD (Endocrine-related cancer 2010) 3

Products for BUB1B-PAK6 Gene

Sources for BUB1B-PAK6 Gene