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

Gene ID: 66036, updated on 8-May-2016
Official Symbol
MTMR9provided by HGNC
Official Full Name
myotubularin related protein 9provided by HGNC
Primary source
HGNC:HGNC:14596
See related
Ensembl:ENSG00000104643 HPRD:09377; MIM:606260; Vega:OTTHUMG00000090647
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]
Orthologs
Location:
8p23-p22
Exon count:
12
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 8 NC_000008.11 (11284491..11328146)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (11142000..11185655)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene XK related 6 Neighboring gene ribosomal protein L17 pseudogene 29 Neighboring gene uncharacterized LOC105379247 Neighboring gene ribosomal protein L19 pseudogene 13 Neighboring gene uncharacterized LOC101929290 Neighboring gene solute carrier family 35 member G5 Neighboring gene FAM167A antisense RNA 1 Neighboring gene L-threonine dehydrogenase (pseudogene)

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Four novel Loci (19q13, 6q24, 12q24, and 5q14) influence the microcirculation in vivo.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC126672, DKFZp434K171

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enzyme regulator activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
regulation of catalytic activity IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
myotubularin-related protein 9
Names
myotubularin related protein 8

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_015458.3NP_056273.2  myotubularin-related protein 9

    See identical proteins and their annotated locations for NP_056273.2

    Status: REVIEWED

    Source sequence(s)
    AJ297823, BC034990, BU631532
    Consensus CDS
    CCDS5979.1
    UniProtKB/Swiss-Prot
    Q96QG7
    Related
    ENSP00000221086, OTTHUMP00000115806, ENST00000221086, OTTHUMT00000207307
    Conserved Domains (2) summary
    pfam06602
    Location:107448
    Myotub-related; Myotubularin-like phosphatase domain
    cd13211
    Location:197
    PH-GRAM_MTMR9; Myotubularian (MTM) related 9 protein (MTMR9) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p2 Primary Assembly

    Range
    11284491..11328146
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011543830.1XP_011542132.1  

    See identical proteins and their annotated locations for XP_011542132.1

    Related
    ENSP00000433239, OTTHUMP00000229484, ENST00000526292, OTTHUMT00000383639
    Conserved Domains (1) summary
    pfam06602
    Location:1341
    Myotub-related; Myotubularin-like phosphatase domain
  2. XM_011543831.1XP_011542133.1  

    Conserved Domains (1) summary
    pfam06602
    Location:1252
    Myotub-related; Myotubularin-like phosphatase domain

Alternate CHM1_1.1

Genomic

  1. NC_018919.2 Alternate CHM1_1.1

    Range
    11207294..11250949
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)