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    MPHOSPH6 M-phase phosphoprotein 6 [ Homo sapiens (human) ]

    Gene ID: 10200, updated on 2-Nov-2024

    Summary

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    Official Symbol
    MPHOSPH6provided by HGNC
    Official Full Name
    M-phase phosphoprotein 6provided by HGNC
    Primary source
    HGNC:HGNC:7214
    See related
    Ensembl:ENSG00000135698 MIM:605500; AllianceGenome:HGNC:7214
    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
    MPP; MPP6; MPP-6
    Summary
    Predicted to enable RNA binding activity. Involved in maturation of 5.8S rRNA. Located in cytosol and nuclear lumen. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in appendix (RPKM 8.9), urinary bladder (RPKM 8.6) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MPHOSPH6 in Genome Data Viewer
    Location:
    16q23.3
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (82148162..82170224, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (88211967..88234029, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (82181767..82203829, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 16:82156398 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 16:82167193 Neighboring gene MT-CYB pseudogene 28 Neighboring gene MT-ND6 pseudogene 28 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:82173035-82173622 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 16:82185320 Neighboring gene Sharpr-MPRA regulatory region 8727 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 16:82194405 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 16:82196808 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 16:82199461 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 16:82199598 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 16:82203758 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7765 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 16:82215972 Neighboring gene RN7SK pseudogene 190 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:82293705-82294204 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:82335587-82336088 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:82336089-82336588 Neighboring gene ribosomal protein L21 pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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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    Related articles in PubMed

    1. MPP6 is an exosome-associated RNA-binding protein involved in 5.8S rRNA maturation. Schilders G, et al. Nucleic Acids Res, 2005. PMID 16396833, Free PMC Article
    2. C1D and hMtr4p associate with the human exosome subunit PM/Scl-100 and are involved in pre-rRNA processing. Schilders G, et al. Nucleic Acids Res, 2007. PMID 17412707, Free PMC Article
    3. NVL2, a nucleolar AAA-ATPase, is associated with the nuclear exosome and is involved in pre-rRNA processing. Yoshikatsu Y, et al. Biochem Biophys Res Commun, 2015 Aug 28. PMID 26166824
    4. Identification of novel M phase phosphoproteins by expression cloning. Matsumoto-Taniura N, et al. Mol Biol Cell, 1996 Sep. PMID 8885239, Free PMC Article
    5. Mpp6 Incorporation in the Nuclear Exosome Contributes to RNA Channeling through the Mtr4 Helicase. Falk S, et al. Cell Rep, 2017 Sep 5. PMID 28877463, Free PMC Article

    See all (51) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    2. MPP6 is a nucleolus-specific exosome co-factor required for its role in the maturation of 5.8S rRNA.
      Title: MPP6 is an exosome-associated RNA-binding protein involved in 5.8S rRNA maturation.
    3. MPP6 was found to be associated with the exosome, a multiprotein complex involved in RNA degradation.
      Title: AU binding proteins recruit the exosome to degrade ARE-containing mRNAs.
    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

    EBI GWAS Catalog

    Description
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of M-phase phosphoprotein 6 (MPHOSPH6) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in maturation of 5.8S rRNA IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in maturation of 5.8S rRNA IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    part_of exosome (RNase complex) IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of nuclear exosome (RNase complex) IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of nuclear exosome (RNase complex) TAS
    Traceable Author Statement
    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
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    M-phase phosphoprotein 6

    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)

    1. NM_005792.2 → NP_005783.2  M-phase phosphoprotein 6

      See identical proteins and their annotated locations for NP_005783.2

      Status: VALIDATED

      Source sequence(s)
      AI831131, AW175781, BU595100, BU622913
      Consensus CDS
      CCDS10937.1
      UniProtKB/Swiss-Prot
      B2RAF0, Q99547
      UniProtKB/TrEMBL
      Q53HB4
      Related
      ENSP00000258169.4, ENST00000258169.9
      Conserved Domains (1) summary
      pfam10175
      Location:8 → 135
      MPP6; M-phase phosphoprotein 6

    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

    1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      82148162..82170224 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011522808.4 → XP_011521110.1  M-phase phosphoprotein 6 isoform X1

      UniProtKB/TrEMBL
      H3BNT4, Q53HB4
      Related
      ENSP00000454996.1, ENST00000563100.5
      Conserved Domains (1) summary
      pfam10175
      Location:1 → 117
      MPP6; M-phase phosphoprotein 6

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      88211967..88234029 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054379376.1 → XP_054235351.1  M-phase phosphoprotein 6 isoform X1

      UniProtKB/TrEMBL
      H3BNT4
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q99547.2 GenPept UniProtKB/Swiss-Prot:Q99547

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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