MPHOSPH8 M-phase phosphoprotein 8 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MPHOSPH8provided by HGNC
Official Full Name: M-phase phosphoprotein 8provided by HGNC
Primary source: HGNC:HGNC:29810
See related: Ensembl:ENSG00000196199 MIM:611626; AllianceGenome:HGNC:29810
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: TWA3; mpp8; HSMPP8
Summary: Enables chromatin binding activity; histone reader activity; and methylated histone binding activity. Involved in negative regulation of gene expression via chromosomal CpG island methylation; negative regulation of single stranded viral RNA replication via double stranded DNA intermediate; and positive regulation of DNA methylation-dependent heterochromatin formation. Located in several cellular components, including cytosol; heterochromatin; and nuclear lumen. Part of nucleosome. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in ovary (RPKM 20.0), spleen (RPKM 15.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 13q12.11

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	13	NC_000013.11 (19633659..19673441)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	13	NC_060937.1 (18797911..18869507)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	13	NC_000013.10 (20207799..20247581)

Chromosome 13 - NC_000013.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

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?

MPP8 Promotes Proliferation and Restrains Apoptosis in Osteosarcoma by Regulating p38alphaMAPK Pathway.
Title: MPP8 Promotes Proliferation and Restrains Apoptosis in Osteosarcoma by Regulating p38αMAPK Pathway.
M-phase phosphoprotein 8 promotes gastric cancer growth and metastasis via p53/Bcl-2 and EMT-related signaling pathways.
Title: M-phase phosphoprotein 8 promotes gastric cancer growth and metastasis via p53/Bcl-2 and EMT-related signaling pathways.
The study demonstrated that MPP8 was associated with non-small cell lung cancer cell proliferation through regulation of HOXA5.
Title: Knockdown of MPP8 suppresses cell proliferation via regulation of HOXA5 in non-small cell lung cancer cells.
The haploid screen identified HUSH, an epigenetic heterochromatin repressor complex composed of three subunits, TASOR, MPP8 and Periphilin. (Review)
Title: Position-effect variegation revisited: HUSHing up heterochromatin in human cells.
findings demonstrate MPP8 and SIRT1 reciprocally regulate each other's function at multiple molecular layers through physical interaction; disruption of MPP8-SIRT1 interaction de-represses E cadherin expression and reduces cell motility and invasiveness suggesting this interplay plays critical role in MPP8- and SIRT1-mediated epithelial-mesenchymal transition
Title: MPP8 and SIRT1 crosstalk in E-cadherin gene silencing and epithelial-mesenchymal transition.
this study identified the HUSH (human silencing hub) complex, comprising three poorly characterized proteins, TASOR, MPP8, and periphilin; this complex is absent from Drosophila but is conserved from fish to humans.
Title: GENE SILENCING. Epigenetic silencing by the HUSH complex mediates position-effect variegation in human cells.
Knockdown analysis of MPP8 in HeLa cells resulted in derepression of a set of genes that are normally expressed in spermatogonia, spermatids and mature sperm, thereby indicating a role for this molecule in silencing testis-related genes in somatic cells.
Title: Physical interaction between MPP8 and PRC1 complex and its implication for regulation of spermatogenesis.
interaction of HN with MPP8 may play a role in oncogenesis because MPP8 increases tumor cell motility and invasion
Title: Humanin binds MPP8: mapping interaction sites of the peptide and protein.
these results indicate that the chromatin association of MPP8 is regulated by Cdk-dependent phosphorylation.
Title: Mitotic phosphorylation of MPP8 by cyclin-dependent kinases regulates chromatin dissociation.
These findings reveal the molecular mechanism of selective binding of human MPP8 chromodomain to methylated histone H3K9.
Title: Structural basis for specific binding of human MPP8 chromodomain to histone H3 methylated at lysine 9.

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

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

RH79712 (e-PCR)
- UniSTS:86283

SHGC-79586 (e-PCR)
- UniSTS:103703

STS-AA029981 (e-PCR)
- UniSTS:54563

D11S2560 (e-PCR)
- UniSTS:37928

D5S2354 (e-PCR)
- UniSTS:473392

D8S2279 (e-PCR)
- UniSTS:473907

G19671 (e-PCR)
- UniSTS:59198

A001U40 (e-PCR)
- UniSTS:59199

D13S1119 (e-PCR)
- UniSTS:153705

D10S16 (e-PCR)
- UniSTS:155756

D1S1425 (e-PCR)
- UniSTS:149621

STS-N29491 (e-PCR)
- UniSTS:70534

RH103936 (e-PCR)
- UniSTS:98261

RH66674 (e-PCR)
- UniSTS:21994

D13S971 (e-PCR)
- UniSTS:152306

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables chromatin binding	IBA Inferred from Biological aspect of Ancestor more info
enables chromatin binding	IDA Inferred from Direct Assay more info	PubMed
enables histone reader activity	IDA Inferred from Direct Assay more info	PubMed
enables methylated histone binding	IBA Inferred from Biological aspect of Ancestor more info
enables methylated histone binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in constitutive heterochromatin formation	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of gene expression via chromosomal CpG island methylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of gene expression, epigenetic	IDA Inferred from Direct Assay more info	PubMed
involved_in transposable element silencing by heterochromatin formation	IDA Inferred from Direct Assay more info	PubMed
involved_in transposable element silencing by heterochromatin formation	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in heterochromatin	IBA Inferred from Biological aspect of Ancestor more info
located_in heterochromatin	IDA Inferred from Direct Assay more info	PubMed
located_in nucleolus	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
part_of nucleosome	IDA Inferred from Direct Assay more info	PubMed
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: M-phase phosphoprotein 8

Names: M-phase phosphoprotein, mpp; M-phase phosphoprotein, mpp8; two hybrid-associated protein 3 with RanBPM

NP_059990.2

EC 2.4.2.30

XP_047286351.1

EC 2.4.2.30

XP_047286352.1

EC 2.4.2.30

XP_047286353.1

EC 2.4.2.30

XP_054230584.1

EC 2.4.2.30

XP_054230585.1

EC 2.4.2.30

XP_054230586.1

EC 2.4.2.30

XP_054230587.1

EC 2.4.2.30

XP_054230588.1

EC 2.4.2.30

XP_054230589.1

EC 2.4.2.30

XP_054230590.1

EC 2.4.2.30

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.

mRNA and Protein(s)

NM_017520.4 → NP_059990.2 M-phase phosphoprotein 8

See identical proteins and their annotated locations for NP_059990.2

Status: VALIDATED

Source sequence(s)

AL354808, BC003542, DA672302, R60056

Consensus CDS

CCDS9287.1

UniProtKB/Swiss-Prot

B7Z6F9, Q5JPE5, Q5JTQ0, Q86TK3, Q96MK4, Q99549, Q9BTP1

Related

ENSP00000355388.4, ENST00000361479.10

Conserved Domains (4) summary

cd00024
Location:57 → 109

CHROMO; Chromatin organization modifier (chromo) domain is a conserved region of around 50 amino acids found in a variety of chromosomal proteins, which appear to play a role in the functional organization of the eukaryotic nucleus. Experimental evidence ...

cd00204
Location:595 → 719

ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...

pfam12796
Location:606 → 695

Ank_2; Ankyrin repeats (3 copies)

sd00045
Location:600 → 631

ANK; ANK repeat [structural motif]

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_000013.11 Reference GRCh38.p14 Primary Assembly

Range

19633659..19673441

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047430395.1 → XP_047286351.1 M-phase phosphoprotein 8 isoform X1
XM_047430396.1 → XP_047286352.1 M-phase phosphoprotein 8 isoform X2
XM_047430397.1 → XP_047286353.1 M-phase phosphoprotein 8 isoform X3

UniProtKB/TrEMBL

B3KS10