MTBP MDM2 binding protein [Homo sapiens (human)] - Gene

Summary

Official Symbol: MTBPprovided by HGNC
Official Full Name: MDM2 binding proteinprovided by HGNC
Primary source: HGNC:HGNC:7417
See related: Ensembl:ENSG00000172167 MIM:605927; AllianceGenome:HGNC:7417
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: MDM2BP
Summary: This gene encodes a protein that interacts with the oncoprotein mouse double minute 2. The encoded protein regulates progression through the cell cycle and may be involved in tumor formation. [provided by RefSeq, Aug 2012]
Expression: Broad expression in testis (RPKM 2.1), lymph node (RPKM 1.4) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 8q24.12

Exon count:: 25

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (120445419..120523636)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (121574164..121652088)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (121457659..121535876)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

Binding of the Treslin-MTBP Complex to Specific Regions of the Human Genome Promotes the Initiation of DNA Replication.
Title: Binding of the Treslin-MTBP Complex to Specific Regions of the Human Genome Promotes the Initiation of DNA Replication.
data show that MTBP aggravates the invasion and metastasis of HCC by promoting the MDM2-mediated degradation of E-cadherin.
Title: MTBP Promotes the Invasion and Metastasis of Hepatocellular Carcinoma by Enhancing the MDM2-Mediated Degradation of E-Cadherin.
Overexpression of MTBP resulted in the suppression of the migratory and metastatic potential of Hepatocellular carcinoma cells, while its downregulation increased the migration.
Title: MTBP inhibits migration and metastasis of hepatocellular carcinoma.
MTBP significantly contributes to breast cancer survival and is a potential novel therapeutic target in Triple-negative breast cancer .
Title: MTBP is overexpressed in triple-negative breast cancer and contributes to its growth and survival.
MTBP associated with MYC at promoters and increased MYC-mediated transcription, proliferation, neoplastic transformation, and tumor development.
Title: Oncogenic protein MTBP interacts with MYC to promote tumorigenesis.
MTBP acts with Treslin/TICRR to integrate signals from cell cycle and DNA damage response pathways to control the initiation of DNA replication in human cells.
Title: Identification of a heteromeric complex that promotes DNA replication origin firing in human cells.
MTBP also inhibited ACTN4-mediated F-actin bundling.
Title: MTBP suppresses cell migration and filopodia formation by inhibiting ACTN4.
identification and characterization of mouse Mdm2 binding protein
Title: A novel cellular protein (MTBP) binds to MDM2 and induces a G1 arrest that is suppressed by MDM2.
MTBP has an important role in recruiting and/or retaining the Mad1/Mad2 complex at the kinetochores during prometaphase, but its degradation is required for silencing the mitotic checkpoint.
Title: MTBP plays a crucial role in mitotic progression and chromosome segregation.
results represent the first examination of MTBP expression in human tissues and provide evidence for a p53 status-dependent role for MTBP in suppressing disease progression in squamous cell carcinoma of the head and neck patients
Title: Loss of MTBP expression is associated with reduced survival in a biomarker-defined subset of patients with squamous cell carcinoma of the head and neck.

Submit: New GeneRIF Correction See all GeneRIFs (12)

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

EBI GWAS Catalog

Description
Epidemiological and genome-wide association study of gastritis or gastric ulcer in korean populations. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH47693 (e-PCR)
- UniSTS:65381

D1S1423 (e-PCR)
- UniSTS:149619

WI-17462 (e-PCR)
- UniSTS:79824

RH65864 (e-PCR)
- UniSTS:12772

Gene Ontology Provided by GOA

Process	Evidence Code	Pubs
involved_in negative regulation of cell population proliferation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of mitotic nuclear division	IEA Inferred from Electronic Annotation more info
involved_in protein localization to kinetochore	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within protein localization to kinetochore	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of protein ubiquitination	IEA Inferred from Electronic Annotation more info
involved_in traversing start control point of mitotic cell cycle	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in chromatin	IDA Inferred from Direct Assay more info	PubMed
is_active_in kinetochore	IBA Inferred from Biological aspect of Ancestor more info
located_in kinetochore	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: mdm2-binding protein

Names: MDM2 (mouse double minute 2)-binding protein, 104kD; Mdm2, transformed 3T3 cell double minute 2, p53 binding protein binding protein, 104kDa

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_033151.1 RefSeqGene

Range

5022..83239

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_022045.5 → NP_071328.2 mdm2-binding protein

See identical proteins and their annotated locations for NP_071328.2

Status: REVIEWED

Source sequence(s)

AC105142, AC107877, BC013136

Consensus CDS

CCDS6333.1

UniProtKB/Swiss-Prot

B4DUR5, Q96DY7, Q9HA89

Related

ENSP00000303398.1, ENST00000305949.6

Conserved Domains (3) summary

pfam14918
Location:1 → 270

MTBP_N; MDM2-binding

pfam14919
Location:294 → 632

MTBP_mid; MDM2-binding

pfam14920
Location:636 → 894

MTBP_C; MDM2-binding

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_000008.11 Reference GRCh38.p14 Primary Assembly

Range

120445419..120523636

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011516962.3 → XP_011515264.1 mdm2-binding protein isoform X1

Conserved Domains (3) summary

pfam14918
Location:1 → 270

MTBP_N; MDM2-binding

pfam14919
Location:294 → 632

MTBP_mid; MDM2-binding

pfam14920
Location:636 → 660

MTBP_C; MDM2-binding
XM_011516963.3 → XP_011515265.1 mdm2-binding protein isoform X2

Conserved Domains (2) summary

pfam14918
Location:1 → 270

MTBP_N; MDM2-binding

pfam14919
Location:294 → 483

MTBP_mid; MDM2-binding