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    MPHOSPH9 M-phase phosphoprotein 9 [ Homo sapiens (human) ]

    Gene ID: 10198, updated on 27-Nov-2024

    Summary

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    Official Symbol
    MPHOSPH9provided by HGNC
    Official Full Name
    M-phase phosphoprotein 9provided by HGNC
    Primary source
    HGNC:HGNC:7215
    See related
    Ensembl:ENSG00000051825 MIM:605501; AllianceGenome:HGNC:7215
    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
    MPP9; MPP-9
    Summary
    Involved in negative regulation of cilium assembly. Located in Golgi apparatus; centriole; and centrosome. Implicated in multiple sclerosis. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in bone marrow (RPKM 6.2), testis (RPKM 5.8) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MPHOSPH9 in Genome Data Viewer
    Location:
    12q24.31
    Exon count:
    28
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (123152324..123244002, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (123148873..123241214, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (123638762..123717688, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene phosphatidylinositol transfer protein membrane associated 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:123496109-123497029 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:123512108-123513066 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:123513067-123514024 Neighboring gene microRNA 4304 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:123528097-123528676 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:123543041-123543542 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:123549368-123550230 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:123550389-123550890 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:123554866-123555738 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:123562495-123563216 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7250 Neighboring gene PITPNM2 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7251 Neighboring gene Sharpr-MPRA regulatory region 3114 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:123576672-123577193 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:123577194-123577714 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:123579095-123579658 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:123579659-123580222 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:123580855-123581820 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:123588763-123589503 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:123589504-123590246 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:123591730-123592470 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr12:123602973-123603786 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr12:123603787-123604600 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:123612195-123612806 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5028 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5029 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5030 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5031 Neighboring gene MPRA-validated peak2026 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7253 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7254 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7255 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7256 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7257 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:123735127-123735916 Neighboring gene mitochondrial translation release factor in rescue Neighboring gene ReSE screen-validated silencer GRCh37_chr12:123749585-123749777 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7258 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5032 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:123754459-123755207 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5033 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:123756263-123756770 Neighboring gene cyclin dependent kinase 2 associated protein 1 Neighboring gene RNA, 5S ribosomal pseudogene 375

    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
    • 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 Functions

    What's a GeneRIF?
    1. M-Phase Phosphoprotein 9 upregulation associates with poor prognosis and activates mTOR signaling in gastric cancer.
      Title: M-Phase Phosphoprotein 9 upregulation associates with poor prognosis and activates mTOR signaling in gastric cancer.
    2. MPP9 acts as a regulator of ciliogenesis by regulating the localization of CP110-CEP97 at the mother centriole.
      Title: M-Phase Phosphoprotein 9 regulates ciliogenesis by modulating CP110-CEP97 complex localization at the mother centriole.
    3. The MPHOSPH9 polymorphism was associated with greater attack severity in Multiple sclerosis
      Title: Multiple sclerosis susceptibility genes: associations with relapse severity and recovery.
    4. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    5. Observational study of gene-disease association. (HuGE Navigator)
      Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    6. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
      Title: An application of Random Forests to a genome-wide association dataset: methodological considerations & new findings.
    7. Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
      Title: Integration of genetic risk factors into a clinical algorithm for multiple sclerosis susceptibility: a weighted genetic risk score.
    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
    Biological insights from 108 schizophrenia-associated genetic loci.
    EBI GWAS Catalog
    Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.
    EBI GWAS Catalog
    Genome-wide association analysis identifies 13 new risk loci for schizophrenia.
    EBI GWAS Catalog
    Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.
    EBI GWAS Catalog
    Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci.
    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)

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Pr55(Gag) gag HIV-1 Gag interacts with MPHOSPH9 as demonstrated by proximity dependent biotinylation proteomics 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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    Markers

    Homology

    Clone Names

    • FLJ12954, DKFZp434J034

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in negative regulation of cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in Golgi membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in centriole IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in centriole IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in membrane HDA PubMed 

    General protein information

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    Preferred Names
    M-phase phosphoprotein 9

    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_022782.4 → NP_073619.3  M-phase phosphoprotein 9

      See identical proteins and their annotated locations for NP_073619.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the supported protein. This variant lacks full-length human transcript support but is supported by tiled partial transcript data and by homologous transcripts.
      Source sequence(s)
      AC073857, AK091181, BC130440, BF793354, CX782912, DB071469
      Consensus CDS
      CCDS9243.2
      UniProtKB/Swiss-Prot
      A0A0A0MTP3, A1L486, A6NEE2, B3KR87, Q99550, Q9H976, U3KQ28
      UniProtKB/TrEMBL
      A0A8I5IG87
      Related
      ENSP00000475489.1, ENST00000606320.6
      Conserved Domains (1) summary
      pfam15035
      Location:621 → 795
      Rootletin; Ciliary rootlet component, centrosome cohesion

    RNA

    1. NR_103517.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) includes an additional internal exon, lacks a different internal exon, and uses an alternate splice site, compared to variant 1. This variant is represented as non-coding because the use of the expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC073857, AK091181, AK096541, BF793354, DB071469

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      123152324..123244002 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017018673.2 → XP_016874162.1  M-phase phosphoprotein 9 isoform X1

      UniProtKB/Swiss-Prot
      A0A0A0MTP3, A1L486, A6NEE2, B3KR87, Q99550, Q9H976, U3KQ28
      UniProtKB/TrEMBL
      A0A8I5IG87
      Conserved Domains (1) summary
      pfam15035
      Location:621 → 795
      Rootletin; Ciliary rootlet component, centrosome cohesion

    2. XM_047428066.1 → XP_047284022.1  M-phase phosphoprotein 9 isoform X12

    3. XM_047428065.1 → XP_047284021.1  M-phase phosphoprotein 9 isoform X11

    4. XM_047428067.1 → XP_047284023.1  M-phase phosphoprotein 9 isoform X13

    5. XM_047428064.1 → XP_047284020.1  M-phase phosphoprotein 9 isoform X9

    6. XM_047428060.1 → XP_047284016.1  M-phase phosphoprotein 9 isoform X5

    7. XM_047428059.1 → XP_047284015.1  M-phase phosphoprotein 9 isoform X5

    8. XM_047428061.1 → XP_047284017.1  M-phase phosphoprotein 9 isoform X6

    9. XM_047428058.1 → XP_047284014.1  M-phase phosphoprotein 9 isoform X4

    10. XM_017018677.2 → XP_016874166.1  M-phase phosphoprotein 9 isoform X10

      UniProtKB/TrEMBL
      A0A8I5IG87
      Conserved Domains (1) summary
      pfam15035
      Location:621 → 795
      Rootletin; Ciliary rootlet component, centrosome cohesion

    11. XM_011537741.3 → XP_011536043.1  M-phase phosphoprotein 9 isoform X3

      See identical proteins and their annotated locations for XP_011536043.1

      UniProtKB/TrEMBL
      A0A8I5IG87
      Conserved Domains (1) summary
      pfam15035
      Location:621 → 795
      Rootletin; Ciliary rootlet component, centrosome cohesion

    12. XM_011537740.3 → XP_011536042.1  M-phase phosphoprotein 9 isoform X3

      See identical proteins and their annotated locations for XP_011536042.1

      UniProtKB/TrEMBL
      A0A8I5IG87
      Conserved Domains (1) summary
      pfam15035
      Location:621 → 795
      Rootletin; Ciliary rootlet component, centrosome cohesion

    13. XM_047428056.1 → XP_047284012.1  M-phase phosphoprotein 9 isoform X1

      UniProtKB/Swiss-Prot
      A0A0A0MTP3, A1L486, A6NEE2, B3KR87, Q99550, Q9H976, U3KQ28

    14. XM_047428055.1 → XP_047284011.1  M-phase phosphoprotein 9 isoform X1

      UniProtKB/Swiss-Prot
      A0A0A0MTP3, A1L486, A6NEE2, B3KR87, Q99550, Q9H976, U3KQ28

    15. XM_047428070.1 → XP_047284026.1  M-phase phosphoprotein 9 isoform X15

    16. XM_047428063.1 → XP_047284019.1  M-phase phosphoprotein 9 isoform X8

    17. XM_047428069.1 → XP_047284025.1  M-phase phosphoprotein 9 isoform X15

    18. XM_047428073.1 → XP_047284029.1  M-phase phosphoprotein 9 isoform X18

    19. XM_047428062.1 → XP_047284018.1  M-phase phosphoprotein 9 isoform X7

    20. XM_047428057.1 → XP_047284013.1  M-phase phosphoprotein 9 isoform X2

    21. XM_047428071.1 → XP_047284027.1  M-phase phosphoprotein 9 isoform X16

      Related
      ENSP00000304096.5, ENST00000302373.8

    22. XM_047428068.1 → XP_047284024.1  M-phase phosphoprotein 9 isoform X14

    23. XM_047428072.1 → XP_047284028.1  M-phase phosphoprotein 9 isoform X17

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      123148873..123241214 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054370736.1 → XP_054226711.1  M-phase phosphoprotein 9 isoform X1

      UniProtKB/Swiss-Prot
      A0A0A0MTP3, A1L486, A6NEE2, B3KR87, Q99550, Q9H976, U3KQ28

    2. XM_054370749.1 → XP_054226724.1  M-phase phosphoprotein 9 isoform X12

    3. XM_054370748.1 → XP_054226723.1  M-phase phosphoprotein 9 isoform X11

    4. XM_054370750.1 → XP_054226725.1  M-phase phosphoprotein 9 isoform X13

    5. XM_054370746.1 → XP_054226721.1  M-phase phosphoprotein 9 isoform X9

    6. XM_054370742.1 → XP_054226717.1  M-phase phosphoprotein 9 isoform X5

    7. XM_054370741.1 → XP_054226716.1  M-phase phosphoprotein 9 isoform X5

    8. XM_054370743.1 → XP_054226718.1  M-phase phosphoprotein 9 isoform X6

    9. XM_054370740.1 → XP_054226715.1  M-phase phosphoprotein 9 isoform X4

    10. XM_054370747.1 → XP_054226722.1  M-phase phosphoprotein 9 isoform X10

    11. XM_054370739.1 → XP_054226714.1  M-phase phosphoprotein 9 isoform X3

    12. XM_054370738.1 → XP_054226713.1  M-phase phosphoprotein 9 isoform X3

    13. XM_054370735.1 → XP_054226710.1  M-phase phosphoprotein 9 isoform X1

      UniProtKB/Swiss-Prot
      A0A0A0MTP3, A1L486, A6NEE2, B3KR87, Q99550, Q9H976, U3KQ28

    14. XM_054370734.1 → XP_054226709.1  M-phase phosphoprotein 9 isoform X1

      UniProtKB/Swiss-Prot
      A0A0A0MTP3, A1L486, A6NEE2, B3KR87, Q99550, Q9H976, U3KQ28

    15. XM_054370753.1 → XP_054226728.1  M-phase phosphoprotein 9 isoform X15

    16. XM_054370745.1 → XP_054226720.1  M-phase phosphoprotein 9 isoform X8

    17. XM_054370752.1 → XP_054226727.1  M-phase phosphoprotein 9 isoform X15

    18. XM_054370756.1 → XP_054226731.1  M-phase phosphoprotein 9 isoform X18

    19. XM_054370744.1 → XP_054226719.1  M-phase phosphoprotein 9 isoform X7

    20. XM_054370737.1 → XP_054226712.1  M-phase phosphoprotein 9 isoform X2

    21. XM_054370754.1 → XP_054226729.1  M-phase phosphoprotein 9 isoform X16

    22. XM_054370751.1 → XP_054226726.1  M-phase phosphoprotein 9 isoform X14

    23. XM_054370755.1 → XP_054226730.1  M-phase phosphoprotein 9 isoform X17

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q99550.7 GenPept UniProtKB/Swiss-Prot:Q99550

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