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

Gene ID: 10198, updated on 3-Apr-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
Located in Golgi apparatus and centriole. Implicated in multiple sclerosis. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in bone marrow (RPKM 6.2), testis (RPKM 5.8) and 24 other tissues See more
Orthologs
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (123152324..123244002, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (123148873..123241214, complement)
105.20220307 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)

Genotypes

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_2023_10

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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