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
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
Expression: Ubiquitous expression in ovary (RPKM 20.0), spleen (RPKM 15.8) and 25 other tissues See more
Orthologs: mouse all

Genomic context

Location:: 13q12.11

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
109.20190607	current	GRCh38.p13 (GCF_000001405.39)	13	NC_000013.11 (19633648..19673441)
105	previous assembly	GRCh37.p13 (GCF_000001405.25)	13	NC_000013.10 (20207787..20247599)

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: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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.
We determined the crystal structure of MPP8 chromodomain in complex with H3K9me3 peptide. MPP8 interacts with at least six histone H3 residues from glutamine 5 to serine 10.
Title: Structural insights for MPP8 chromodomain interaction with histone H3 lysine 9: potential effect of phosphorylation on methyl-lysine binding.
MPP8 mediates E-cadherin gene silencing and promotes breast tumour cell motility and invasion.
Title: Methyl-H3K9-binding protein MPP8 mediates E-cadherin gene silencing and promotes tumour cell motility and invasion.

Submit: New GeneRIF Correction

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

Homology

Homologs of the MPHOSPH8 gene: The MPHOSPH8 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, and frog.
Orthologs from Annotation Pipeline: 272 organisms have orthologs with human gene MPHOSPH8
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
chromatin binding	IDA Inferred from Direct Assay more info	PubMed
methylated histone binding	IDA Inferred from Direct Assay more info	PubMed
protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
negative regulation of gene expression, epigenetic	IDA Inferred from Direct Assay more info	PubMed
negative regulation of single stranded viral RNA replication via double stranded DNA intermediate	IMP Inferred from Mutant Phenotype more info	PubMed
negative regulation of transcription, DNA-templated	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of methylation-dependent chromatin silencing	IDA Inferred from Direct Assay more info	PubMed
regulation of DNA methylation	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
cytoplasm	IDA Inferred from Direct Assay more info	PubMed
cytosol	IDA Inferred from Direct Assay more info
heterochromatin	IDA Inferred from Direct Assay more info	PubMed
nuclear heterochromatin	IDA Inferred from Direct Assay more info	PubMed
nuclear nucleosome	IDA Inferred from Direct Assay more info	PubMed
nucleolus	IDA Inferred from Direct Assay more info
nucleus	IDA Inferred from Direct Assay more info	PubMed
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_011533426.1

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

Q99549

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: Homo sapiens Annotation Release 109

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

Reference GRCh38.p13 Primary Assembly

Genomic

NC_000013.11 Reference GRCh38.p13 Primary Assembly

Range

19633648..19673441

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011535124.3 → XP_011533426.1 M-phase phosphoprotein 8 isoform X1

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]