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MTMR9 myotubularin related protein 9 [ Homo sapiens (human) ]

Gene ID: 66036, updated on 6-May-2021

Summary

Official Symbol
MTMR9provided by HGNC
Official Full Name
myotubularin related protein 9provided by HGNC
Primary source
HGNC:HGNC:14596
See related
Ensembl:ENSG00000104643 MIM:606260
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MTMR8; C8orf9; LIP-STYX
Summary
This gene encodes a myotubularin-related protein that is atypical to most other members of the myotubularin-related protein family because it has no dual-specificity phosphatase domain. The encoded protein contains a double-helical motif similar to the SET interaction domain, which is thought to have a role in the control of cell proliferation. In mouse, a protein similar to the encoded protein binds with MTMR7, and together they dephosphorylate phosphatidylinositol 3-phosphate and inositol 1,3-bisphosphate. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in brain (RPKM 9.7), testis (RPKM 6.0) and 23 other tissues See more
Orthologs
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Genomic context

See MTMR9 in Genome Data Viewer
Location:
8p23.1
Exon count:
13
Annotation release Status Assembly Chr Location
109.20210226 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (11284416..11328146)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (11142325..11185655)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 529 Neighboring gene Sharpr-MPRA regulatory region 9232 Neighboring gene ribosomal protein L19 pseudogene 13 Neighboring gene uncharacterized LOC101929290 Neighboring gene solute carrier family 35 member G5 Neighboring gene TDH antisense RNA 1 Neighboring gene L-threonine dehydrogenase (pseudogene)

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

Associated conditions

Description Tests
Four novel Loci (19q13, 6q24, 12q24, and 5q14) influence the microcirculation in vivo.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC126672, DKFZp434K171

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables enzyme regulator activity IEA
Inferred from Electronic Annotation
more info
 
enables phosphatidylinositol-3-phosphatase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein phosphatase binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
 
is_active_in membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
more info
 
part_of protein-containing complex IDA
Inferred from Direct Assay
more info
PubMed 
located_in ruffle membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
myotubularin-related protein 9
Names
inactive phosphatidylinositol 3-phosphatase 9
myotubularin related protein 8

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_015458.4NP_056273.2  myotubularin-related protein 9

    See identical proteins and their annotated locations for NP_056273.2

    Status: REVIEWED

    Source sequence(s)
    AJ297823, BU631532
    Consensus CDS
    CCDS5979.1
    UniProtKB/Swiss-Prot
    Q96QG7
    Related
    ENSP00000221086.3, ENST00000221086.8
    Conserved Domains (2) summary
    cd13211
    Location:197
    PH-GRAM_MTMR9; Myotubularian (MTM) related 9 protein (MTMR9) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    pfam06602
    Location:127446
    Myotub-related; Myotubularin-like phosphatase domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210226

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

    Range
    11284416..11328146
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011543830.3XP_011542132.1  myotubularin-related protein 9 isoform X1

    See identical proteins and their annotated locations for XP_011542132.1

    Related
    ENSP00000433239.1, ENST00000526292.1
    Conserved Domains (1) summary
    pfam06602
    Location:1337
    Myotub-related; Myotubularin-like phosphatase domain
  2. XM_017013753.2XP_016869242.1  myotubularin-related protein 9 isoform X3

  3. XM_011543831.2XP_011542133.1  myotubularin-related protein 9 isoform X2

    Conserved Domains (1) summary
    pfam06602
    Location:1248
    Myotub-related; Myotubularin-like phosphatase domain

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_018654717.1 Reference GRCh38.p13 PATCHES

    Range
    2018699..2062035 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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