This gene encodes a nucleolar transcriptional regulator that was first identified by its ability to bind specifically to the Myb proto-oncogene protein. The encoded protein is thought to play a role in many cellular processes including response to nucleolar stress, tumor suppression and synthesis of ribosomal DNA. Alternate splicing results in multiple transcript variants. [pro... See more...

Aliases for MYBBP1A Gene

Aliases for MYBBP1A Gene

  • MYB Binding Protein 1a 2 3 5
  • P160 2 3 4
  • MYB Binding Protein (P160) 1a 2 3
  • P53-Activated Protein-2 2 3
  • Myb-Binding Protein 1A 3 4
  • PAP2 2 3
  • Pol5 2 3
  • FLJ37886 2
  • MYBBP1A 5

External Ids for MYBBP1A Gene

Previous GeneCards Identifiers for MYBBP1A Gene

  • GC17M004867
  • GC17M004787
  • GC17M004393
  • GC17M004648
  • GC17M004388
  • GC17M004442
  • GC17M004331

Summaries for MYBBP1A Gene

Entrez Gene Summary for MYBBP1A Gene

  • This gene encodes a nucleolar transcriptional regulator that was first identified by its ability to bind specifically to the Myb proto-oncogene protein. The encoded protein is thought to play a role in many cellular processes including response to nucleolar stress, tumor suppression and synthesis of ribosomal DNA. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

GeneCards Summary for MYBBP1A Gene

MYBBP1A (MYB Binding Protein 1a) is a Protein Coding gene. Diseases associated with MYBBP1A include Familial Adult Myoclonic Epilepsy and Ciliary Dyskinesia, Primary, 1. Among its related pathways are Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 and Gene Expression. Gene Ontology (GO) annotations related to this gene include binding.

UniProtKB/Swiss-Prot Summary for MYBBP1A Gene

  • May activate or repress transcription via interactions with sequence specific DNA-binding proteins (By similarity). Repression may be mediated at least in part by histone deacetylase activity (HDAC activity) (By similarity). Acts as a corepressor and in concert with CRY1, represses the transcription of the core circadian clock component PER2 (By similarity). Preferentially binds to dimethylated histone H3 'Lys-9' (H3K9me2) on the PER2 promoter (By similarity). Has a role in rRNA biogenesis together with PWP1 (PubMed:29065309).

Gene Wiki entry for MYBBP1A Gene

Additional gene information for MYBBP1A Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MYBBP1A Gene

Genomics for MYBBP1A Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MYBBP1A 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 MYBBP1A on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MYBBP1A

Top Transcription factor binding sites by QIAGEN in the MYBBP1A gene promoter:
  • AhR
  • AP-1
  • E47
  • GR
  • GR-alpha
  • GR-beta
  • ISGF-3
  • Max1
  • RFX1
  • STAT5B

Genomic Locations for MYBBP1A Gene

Genomic Locations for MYBBP1A Gene
chr17:4,538,896-4,555,631
(GRCh38/hg38)
Size:
16,736 bases
Orientation:
Minus strand
chr17:4,442,191-4,458,926
(GRCh37/hg19)
Size:
16,736 bases
Orientation:
Minus strand

Genomic View for MYBBP1A Gene

Genes around MYBBP1A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MYBBP1A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MYBBP1A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MYBBP1A Gene

Proteins for MYBBP1A Gene

  • Protein details for MYBBP1A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BQG0-MBB1A_HUMAN
    Recommended name:
    Myb-binding protein 1A
    Protein Accession:
    Q9BQG0
    Secondary Accessions:
    • Q86VM3
    • Q9BW49
    • Q9P0V5
    • Q9UF99

    Protein attributes for MYBBP1A Gene

    Size:
    1328 amino acids
    Molecular mass:
    148855 Da
    Quaternary structure:
    • Binds to and represses JUN and MYB via the leucine zipper regions present in these proteins. Also binds to and represses PPARGC1A: this interaction is abrogated when PPARGC1A is phosphorylated by MAPK1/ERK. Binds to and stimulates transcription by AHR. Binds to KPNA2. Interacts with CLOCK and CRY1 (By similarity). Component of the B-WICH complex, at least composed of SMARCA5/SNF2H, BAZ1B/WSTF, SF3B1, DEK, MYO1C, ERCC6, MYBBP1A and DDX21.
    SequenceCaution:
    • Sequence=CAB66530.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
    Miscellaneous:
    • [Isoform 2]: May be due to competing donor and acceptor splice sites.

    Alternative splice isoforms for MYBBP1A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MYBBP1A Gene

Post-translational modifications for MYBBP1A Gene

  • Citrullinated by PADI4.
  • Ubiquitination at Lys56, Lys161, Lys179, Lys231, Lys988, Lys1036, and Lys1140
  • Modification sites at PhosphoSitePlus

Other Protein References for MYBBP1A Gene

No data available for DME Specific Peptides for MYBBP1A Gene

Domains & Families for MYBBP1A Gene

Gene Families for MYBBP1A Gene

Protein Domains for MYBBP1A Gene

InterPro:
Blocks:
  • Binding-protein-dependent transport systems inner membrane component
ProtoNet:

Suggested Antigen Peptide Sequences for MYBBP1A Gene

GenScript: Design optimal peptide antigens:
  • Myb-binding protein 1A (MBB1A_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9BQG0

UniProtKB/Swiss-Prot:

MBB1A_HUMAN :
  • Belongs to the MYBBP1A family.
Family:
  • Belongs to the MYBBP1A family.
genes like me logo Genes that share domains with MYBBP1A: view

Function for MYBBP1A Gene

Molecular function for MYBBP1A Gene

UniProtKB/Swiss-Prot Function:
May activate or repress transcription via interactions with sequence specific DNA-binding proteins (By similarity). Repression may be mediated at least in part by histone deacetylase activity (HDAC activity) (By similarity). Acts as a corepressor and in concert with CRY1, represses the transcription of the core circadian clock component PER2 (By similarity). Preferentially binds to dimethylated histone H3 'Lys-9' (H3K9me2) on the PER2 promoter (By similarity). Has a role in rRNA biogenesis together with PWP1 (PubMed:29065309).
GENATLAS Biochemistry:
MYB binding protein 1A,expressed in pancreas,kidney,brain,colon,prostate,nuclear predominantly localized in the nucleolus

Phenotypes From GWAS Catalog for MYBBP1A Gene

Gene Ontology (GO) - Molecular Function for MYBBP1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0003714 transcription corepressor activity IEA,ISS --
GO:0003723 RNA binding HDA 22658674
GO:0008134 transcription factor binding TAS,IEA --
GO:0043565 sequence-specific DNA binding IEA,IBA 21873635
genes like me logo Genes that share ontologies with MYBBP1A: view
genes like me logo Genes that share phenotypes with MYBBP1A: view

Animal Models for MYBBP1A Gene

MGI Knock Outs for MYBBP1A:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MYBBP1A

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MYBBP1A Gene

Localization for MYBBP1A Gene

Subcellular locations from UniProtKB/Swiss-Prot for MYBBP1A Gene

Cytoplasm. Nucleus. Nucleus, nucleolus. Note=Shuttles between the nucleus and cytoplasm. Nuclear import may be mediated by KPNA2, while export appears to depend partially on XPO1/CRM1 (By similarity). Predominantly nucleolar. {ECO:0000250 UniProtKB:Q7TPV4}.

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 MYBBP1A gene
Compartment Confidence
nucleus 5
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli (3)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MYBBP1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus ISS --
GO:0005654 nucleoplasm TAS --
GO:0005730 nucleolus IBA,ISS --
GO:0005737 cytoplasm ISS --
GO:0016020 membrane HDA 16210410
genes like me logo Genes that share ontologies with MYBBP1A: view

Pathways & Interactions for MYBBP1A Gene

genes like me logo Genes that share pathways with MYBBP1A: view

SIGNOR curated interactions for MYBBP1A Gene

Is activated by:
Other effect:

Gene Ontology (GO) - Biological Process for MYBBP1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001649 osteoblast differentiation HDA 16210410
GO:0006355 regulation of transcription, DNA-templated TAS 10644447
GO:0022904 respiratory electron transport chain IEA --
GO:0032922 circadian regulation of gene expression IEA,ISS --
GO:0042149 cellular response to glucose starvation IDA 21471221
genes like me logo Genes that share ontologies with MYBBP1A: view

Drugs & Compounds for MYBBP1A Gene

(5) Drugs for MYBBP1A Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
dATP Experimental Pharma Agonist, Full agonist 0
dctp Experimental Pharma 0
dgtp Experimental Pharma 0
Thymidine 5'-triphosphate Experimental Pharma 0

(1) Additional Compounds for MYBBP1A Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • [(ho)2P(O)OP(O)(OH)2]
  • Acide diphosphorique
  • Diphosphorsaeure
  • H4P2O7
  • PYROphosphATE
14000-31-8
genes like me logo Genes that share compounds with MYBBP1A: view

Transcripts for MYBBP1A Gene

mRNA/cDNA for MYBBP1A Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MYBBP1A

Alternative Splicing Database (ASD) splice patterns (SP) for MYBBP1A Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b ^ 19a · 19b ^ 20a · 20b ^
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11: - - - - - -
SP12:
SP13:
SP14:

ExUns: 21a · 21b ^ 22 ^ 23a · 23b · 23c · 23d ^ 24a · 24b ^ 25 ^ 26 ^ 27a · 27b · 27c
SP1:
SP2: - -
SP3: - -
SP4: - -
SP5: - -
SP6:
SP7:
SP8:
SP9:
SP10:
SP11: - - - - - - - - - -
SP12: - -
SP13:
SP14:

Relevant External Links for MYBBP1A Gene

GeneLoc Exon Structure for
MYBBP1A

Expression for MYBBP1A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MYBBP1A Gene

Protein differential expression in normal tissues from HIPED for MYBBP1A Gene

This gene is overexpressed in Peripheral blood mononuclear cells (10.3), Heart (8.3), Tlymphocyte (6.7), and Pancreas (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MYBBP1A Gene



Protein tissue co-expression partners for MYBBP1A Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MYBBP1A

SOURCE GeneReport for Unigene cluster for MYBBP1A Gene:

Hs.701718

Evidence on tissue expression from TISSUES for MYBBP1A Gene

  • Nervous system(4.6)
  • Eye(4.3)
  • Blood(2.9)
  • Muscle(2.6)
  • Liver(2.5)
  • Skin(2.3)
  • Lung(2.2)
genes like me logo Genes that share expression patterns with MYBBP1A: view

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 MYBBP1A Gene

Orthologs for MYBBP1A Gene

This gene was present in the common ancestor of chordates.

Orthologs for MYBBP1A Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia MYBBP1A 30 31
  • 96.75 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia MYBBP1A 30 31
  • 82.35 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia MYBBP1A 30 31
  • 82.09 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Mybbp1a 30 17 31
  • 76.27 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Mybbp1a 30
  • 75.77 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia MYBBP1A 31
  • 52 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia MYBBP1A 31
  • 43 (a)
OneToOne
Chicken
(Gallus gallus)
Aves MYBBP1A 30 31
  • 60.08 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia MYBBP1A 31
  • 47 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia mybbp1a 30
  • 54.03 (n)
Str.18801 30
Zebrafish
(Danio rerio)
Actinopterygii MYBBP1A (2 of 2) 31
  • 48 (a)
OneToMany
mybbp1a 31
  • 41 (a)
OneToMany
Dr.25251 30
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.1017 31
  • 26 (a)
OneToOne
Species where no ortholog for MYBBP1A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • Fruit Fly (Drosophila melanogaster)
  • 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)
  • Rainbow Trout (Oncorhynchus mykiss)
  • 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)
  • Worm (Caenorhabditis elegans)

Evolution for MYBBP1A Gene

ENSEMBL:
Gene Tree for MYBBP1A (if available)
TreeFam:
Gene Tree for MYBBP1A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MYBBP1A: view image

Paralogs for MYBBP1A Gene

No data available for Paralogs for MYBBP1A Gene

Variants for MYBBP1A Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MYBBP1A Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
709927 Benign: not provided 4,539,910(-) G/A SYNONYMOUS_VARIANT
710102 Benign: not provided 4,544,754(-) G/T SYNONYMOUS_VARIANT
714716 Benign: not provided 4,548,587(-) T/C MISSENSE_VARIANT
715079 Benign: not provided 4,539,636(-) G/A NONSENSE
717427 Benign: not provided 4,555,299(-) G/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for MYBBP1A Gene

Structural Variations from Database of Genomic Variants (DGV) for MYBBP1A Gene

Variant ID Type Subtype PubMed ID
esv2715555 CNV deletion 23290073
esv3639785 CNV gain 21293372
esv3639787 CNV gain 21293372
nsv1061858 CNV gain 25217958
nsv574269 CNV gain 21841781
nsv574272 CNV loss 21841781
nsv952109 CNV deletion 24416366

Variation tolerance for MYBBP1A Gene

Residual Variation Intolerance Score: 99.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.69; 93.23% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MYBBP1A Gene

Human Gene Mutation Database (HGMD)
MYBBP1A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MYBBP1A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MYBBP1A Gene

Disorders for MYBBP1A Gene

MalaCards: The human disease database

(2) MalaCards diseases for MYBBP1A Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for MYBBP1A

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with MYBBP1A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MYBBP1A Gene

Publications for MYBBP1A Gene

  1. Molecular cloning and chromosomal mapping of the human homologue of MYB binding protein (P160) 1A (MYBBP1A) to 17p13.3. (PMID: 10644447) Keough R … Gonda TJ (Genomics 1999) 2 3 4 23
  2. Identification of Myb-binding protein 1A (MYBBP1A) as a novel substrate for aurora B kinase. (PMID: 20177074) Perrera C … Rusconi L (The Journal of biological chemistry 2010) 3 23
  3. Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations. (PMID: 18660489) Lu Y … Boer JM (Journal of lipid research 2008) 3 41
  4. MYBBP1a is a novel repressor of NF-kappaB. (PMID: 17196614) Owen HR … Hottiger MO (Journal of molecular biology 2007) 3 23
  5. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PMID: 16964243) Beausoleil SA … Gygi SP (Nature biotechnology 2006) 3 4

Products for MYBBP1A Gene

Sources for MYBBP1A Gene