MYBBP1A MYB binding protein 1a [Homo sapiens (human)] - Gene

Summary

Official Symbol: MYBBP1Aprovided by HGNC
Official Full Name: MYB binding protein 1aprovided by HGNC
Primary source: HGNC:HGNC:7546
See related: Ensembl:ENSG00000132382 MIM:604885; AllianceGenome:HGNC:7546
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: P160; PAP2; Pol5
Summary: 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]
Expression: Ubiquitous expression in skin (RPKM 11.1), spleen (RPKM 9.9) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17p13.2

Exon count:: 26

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (4538904..4555384, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (4428802..4445280, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (4442199..4458679, complement)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Intratumoral Restoration of miR-137 Plus Cholesterol Favors Homeostasis of the miR-137/Coactivator p160/AR Axis and Negatively Modulates Tumor Progression in Advanced Prostate Cancer.
Title: Intratumoral Restoration of miR-137 Plus Cholesterol Favors Homeostasis of the miR-137/Coactivator p160/AR Axis and Negatively Modulates Tumor Progression in Advanced Prostate Cancer.
Characterization of the impact of the MYBBP1A gene and rs3809849 on asparaginase sensitivity and cellular functions.
Title: Characterization of the impact of the MYBBP1A gene and rs3809849 on asparaginase sensitivity and cellular functions.
This study shows the capability of MYBBP1A to regulate glucose metabolism through c-MYB and PGC1alpha in human tumors.
Title: c-MYB- and PGC1a-dependent metabolic switch induced by MYBBP1A loss in renal cancer.
The results indicated that both the heterozygous genotype GC and homozygous genotype CC in rs3809849 in MYBBP1A had significant effects on the risk of pulmonary tuberculosis, and heterozygous genotype CT in rs9061 in SP110 also had similar effects.
Title: The effects of SP110's associated genes on fresh cavitary pulmonary tuberculosis in Han Chinese population.
We propose that the nucleolus functions as a stress sensor to modulate p53 protein levels and its acetylation status, determining cell fate between cell cycle arrest and apoptosis by regulating MYBBP1A translocation.
Title: Gradual reduction in rRNA transcription triggers p53 acetylation and apoptosis via MYBBP1A.
MYBBP1A(low)AKT(Ser473)(high) staining pattern serves not only as a marker for the pre-senescent stage but also as an indicator of OPSCC patients at high risk for treatment failure.
Title: Regulation and function of Myb-binding protein 1A (MYBBP1A) in cellular senescence and pathogenesis of head and neck cancer.
TPPII, MYBBP1A and CDK2 form a protein-protein interaction network.
Title: TPPII, MYBBP1A and CDK2 form a protein-protein interaction network.
MYBBP1A functions to enhance p53 tetramerization that is necessary for p53 activation.
Title: The nucleolar protein Myb-binding protein 1A (MYBBP1A) enhances p53 tetramerization and acetylation in response to nucleolar disruption.
Mybbp1a is a novel negative regulator of Sirt7.
Title: Inhibition of H3K18 deacetylation of Sirt7 by Myb-binding protein 1a (Mybbp1a).
Regulators, including BCL11A, MYB, and KLF1, hold great promise to develop targeted and more effective approaches for HbF induction.
Title: The switch from fetal to adult hemoglobin.

Submit: New GeneRIF Correction See all GeneRIFs (24)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	Tandem affinity purification and mass spectrometry analysis identify MYB binding protein 1a (MYBBP1A), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells	PubMed
Gag-Pol	gag-pol	Tandem affinity purification and mass spectrometry analysis identify MYB binding protein 1a (MYBBP1A), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells	PubMed
Nef	nef	Tandem affinity purification and mass spectrometry analysis identify MYB binding protein 1a (MYBBP1A), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells	PubMed
Pr55(Gag)	gag	Tandem affinity purification and mass spectrometry analysis identify MYB binding protein 1a (MYBBP1A), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells	PubMed
Rev	rev	HIV-1 Rev interacting protein, MYB binding protein 1a (MYBBP1A), is identified by the in-vitro binding experiments involving cytosolic or nuclear extracts from HeLa cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables E-box binding	IEA Inferred from Electronic Annotation more info
enables RNA binding	HDA more info	PubMed
enables sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables transcription corepressor activity	IBA Inferred from Biological aspect of Ancestor more info
enables transcription corepressor activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in cellular response to glucose starvation	IDA Inferred from Direct Assay more info	PubMed
involved_in chromatin remodeling	NAS Non-traceable Author Statement more info	PubMed
involved_in circadian regulation of gene expression	ISS Inferred from Sequence or Structural Similarity more info
involved_in intrinsic apoptotic signaling pathway by p53 class mediator	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of DNA-templated transcription	ISS Inferred from Sequence or Structural Similarity more info
involved_in osteoblast differentiation	HDA more info	PubMed
involved_in positive regulation of anoikis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of transcription by RNA polymerase I	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of transcription by RNA polymerase III	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of DNA-templated transcription	TAS Traceable Author Statement more info	PubMed
acts_upstream_of_negative_effect regulation of G1 to G0 transition	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in respiratory electron transport chain	IEA Inferred from Electronic Annotation more info
involved_in ribosome biogenesis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of B-WICH complex	IDA Inferred from Direct Assay more info	PubMed
part_of NLS-dependent protein nuclear import complex	ISS Inferred from Sequence or Structural Similarity more info
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
located_in membrane	HDA more info	PubMed
is_active_in nucleolus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleolus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleolus	ISS Inferred from Sequence or Structural Similarity more info
located_in nucleolus	NAS Non-traceable Author Statement more info	PubMed
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: myb-binding protein 1A

Names: MYB binding protein (P160) 1a; p53-activated protein-2

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.

Genomic

NG_047119.1 RefSeqGene

Range

5003..21483

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001105538.2 → NP_001099008.1 myb-binding protein 1A isoform 1

See identical proteins and their annotated locations for NP_001099008.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the shorter transcript and encodes the longer isoform (1).

Source sequence(s)

AC118754, AL136595, DC346952

Consensus CDS

CCDS42238.1

UniProtKB/TrEMBL

I3L1L3

Related

ENSP00000370968.2, ENST00000381556.6

Conserved Domains (2) summary

pfam04931
Location:72 → 836

DNA_pol_phi; DNA polymerase phi

pfam05177
Location:1158 → 1258

RCSD; RCSD region
NM_014520.4 → NP_055335.2 myb-binding protein 1A isoform 2

See identical proteins and their annotated locations for NP_055335.2

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 3' structure resulting in a novel 3' coding region and 3' UTR compared to variant 1. The encoded isoform (2) is shorter than isoform 1.

Source sequence(s)

AC118754, BC000641, BC050546, BF111023, CB243989, DC346952

Consensus CDS

CCDS11046.1

UniProtKB/Swiss-Prot

Q86VM3, Q9BQG0, Q9BW49, Q9P0V5, Q9UF99

UniProtKB/TrEMBL

I3L1L3

Related

ENSP00000254718.4, ENST00000254718.9

Conserved Domains (2) summary

pfam04931
Location:72 → 836

DNA_pol_phi; DNA polymerase phi

pfam05177
Location:1158 → 1258

RCSD; RCSD region

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000017.11 Reference GRCh38.p14 Primary Assembly

Range

4538904..4555384 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_024450536.2 → XP_024306304.1 myb-binding protein 1A isoform X1

UniProtKB/TrEMBL

I3L1L3

Conserved Domains (1) summary

pfam04931
Location:72 → 836

DNA_pol_phi; DNA polymerase phi
XM_011523616.3 → XP_011521918.1 myb-binding protein 1A isoform X2

UniProtKB/TrEMBL

I3L1L3

Conserved Domains (2) summary

pfam04931
Location:7 → 584

DNA_pol_phi; DNA polymerase phi

pfam05177
Location:906 → 1006

RCSD; RCSD region
XM_047435119.1 → XP_047291075.1 myb-binding protein 1A isoform X3

Alternate T2T-CHM13v2.0

Genomic

NC_060941.1 Alternate T2T-CHM13v2.0

Range

4428802..4445280 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054314704.1 → XP_054170679.1 myb-binding protein 1A isoform X1

UniProtKB/TrEMBL

I3L1L3
XM_054314705.1 → XP_054170680.1 myb-binding protein 1A isoform X2

UniProtKB/TrEMBL

I3L1L3
XM_054314706.1 → XP_054170681.1 myb-binding protein 1A isoform X3