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

Gene ID: 10198, updated on 6-Sep-2022

Summary

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

See MPHOSPH9 in Genome Data Viewer
Location:
12q24.31
Exon count:
29
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (123152324..123244002, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (123150765..123229694, 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 Sharpr-MPRA regulatory region 3114 Neighboring gene Sharpr-MPRA regulatory region 12762 Neighboring gene mitochondrial translation release factor in rescue Neighboring gene cyclin dependent kinase 2 associated protein 1 Neighboring gene RNA, 5S ribosomal pseudogene 375

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

HIV-1 interactions

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

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
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 

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_022782.4NP_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
    Q99550
    Related
    ENSP00000475489.1, ENST00000606320.6
    Conserved Domains (1) summary
    pfam15035
    Location:621795
    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: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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_017018673.2XP_016874162.1  M-phase phosphoprotein 9 isoform X1

    UniProtKB/Swiss-Prot
    Q99550
    Conserved Domains (1) summary
    pfam15035
    Location:621795
    Rootletin; Ciliary rootlet component, centrosome cohesion
  2. XM_047428066.1XP_047284022.1  M-phase phosphoprotein 9 isoform X12

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

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

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

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

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

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

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

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

    Conserved Domains (1) summary
    pfam15035
    Location:621795
    Rootletin; Ciliary rootlet component, centrosome cohesion
  11. XM_011537741.3XP_011536043.1  M-phase phosphoprotein 9 isoform X3

    See identical proteins and their annotated locations for XP_011536043.1

    Conserved Domains (1) summary
    pfam15035
    Location:621795
    Rootletin; Ciliary rootlet component, centrosome cohesion
  12. XM_011537740.3XP_011536042.1  M-phase phosphoprotein 9 isoform X3

    See identical proteins and their annotated locations for XP_011536042.1

    Conserved Domains (1) summary
    pfam15035
    Location:621795
    Rootletin; Ciliary rootlet component, centrosome cohesion
  13. XM_047428056.1XP_047284012.1  M-phase phosphoprotein 9 isoform X1

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

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

    UniProtKB/Swiss-Prot
    U3KQ28
  16. XM_047428063.1XP_047284019.1  M-phase phosphoprotein 9 isoform X8

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

    UniProtKB/Swiss-Prot
    U3KQ28
  18. XM_047428073.1XP_047284029.1  M-phase phosphoprotein 9 isoform X18

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

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

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

    Related
    ENSP00000304096.5, ENST00000302373.8
  22. XM_047428068.1XP_047284024.1  M-phase phosphoprotein 9 isoform X14

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    123150765..123229694 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)