U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

MTMR10 myotubularin related protein 10 [ Homo sapiens (human) ]

Gene ID: 54893, updated on 3-Apr-2024

Summary

Go to the top of the page Help
Official Symbol
MTMR10provided by HGNC
Official Full Name
myotubularin related protein 10provided by HGNC
Primary source
HGNC:HGNC:25999
See related
Ensembl:ENSG00000166912 AllianceGenome:HGNC:25999
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
Summary
Predicted to enable phosphatidylinositol-3-phosphatase activity. Predicted to be involved in phosphatidylinositol dephosphorylation. Located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in kidney (RPKM 17.0), placenta (RPKM 15.7) and 25 other tissues See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
Location:
15q13.3
Exon count:
20
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (30918716..30991628, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (28712307..28785709, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (31231144..31283831, complement)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene endonuclease domain containing 1 pseudogene Neighboring gene HERC2 pseudogene 10 Neighboring gene MPRA-validated peak2284 silencer Neighboring gene MPRA-validated peak2285 silencer Neighboring gene TMEM183A pseudogene 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:31195700-31196697 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:31201877-31202376 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:31209335-31209834 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:31214641-31215582 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:31215583-31216523 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:31219875-31220375 Neighboring gene FANCD2 and FANCI associated nuclease 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:31246205-31246731 Neighboring gene RNA, U6 small nuclear 466, pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:31283406-31283928 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:31283929-31284450 Neighboring gene Sharpr-MPRA regulatory region 8183 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr15:31318084-31319283 Neighboring gene uncharacterized LOC105370752 Neighboring gene transient receptor potential cation channel subfamily M member 1 Neighboring gene microRNA 211

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

Related articles in PubMed

  1. PTEN and myotubularin phosphatases: from 3-phosphoinositide dephosphorylation to disease. Wishart MJ, et al. Trends Cell Biol, 2002 Dec. PMID 12495846
  2. Systematic analysis of myotubularins: heteromeric interactions, subcellular localisation and endosome related functions. Lorenzo O, et al. J Cell Sci, 2006 Jul 15. PMID 16787938
  3. Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci. Weissglas-Volkov D, et al. J Med Genet, 2013 May. PMID 23505323, Free PMC Article
  4. Myotubularin-related proteins 3 and 4 interact with polo-like kinase 1 and centrosomal protein of 55 kDa to ensure proper abscission. St-Denis N, et al. Mol Cell Proteomics, 2015 Apr. PMID 25659891, Free PMC Article
  5. Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism. Corominas R, et al. Nat Commun, 2014 Apr 11. PMID 24722188, Free PMC Article

See all (22) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

Go to the top of the page Help

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
Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci.
EBI GWAS Catalog

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

Go to the top of the page

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Clone Names

  • FLJ20313

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in phosphatidylinositol dephosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
  

General protein information

Go to the top of the page Help
Preferred Names
myotubularin-related protein 10
Names
inactive phosphatidylinositol 3-phosphatase 10

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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_017762.3 → NP_060232.2  myotubularin-related protein 10

    See identical proteins and their annotated locations for NP_060232.2

    Status: VALIDATED

    Source sequence(s)
    AA461184, AC087481, AC090829, AL598227, AL832603, BC094750
    Consensus CDS
    CCDS45204.1
    UniProtKB/Swiss-Prot
    Q6P4Q6, Q9NXD2
    UniProtKB/TrEMBL
    X5D963
    Related
    ENSP00000402537.1, ENST00000435680.6
    Conserved Domains (3) summary
    cd13346
    Location:21 → 195
    PH-GRAM_MTMR10; Myotubularian (MTM) related 10 protein (MTMR10) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    pfam06602
    Location:226 → 507
    Myotub-related; Myotubularin-like phosphatase domain
    pfam12578
    Location:578 → 705
    3-PAP; Myotubularin-associated protein

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_000015.10 Reference GRCh38.p14 Primary Assembly

    Range
    30918716..30991628 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011521737.4 → XP_011520039.1  myotubularin-related protein 10 isoform X3

    See identical proteins and their annotated locations for XP_011520039.1

    UniProtKB/TrEMBL
    X5D300
    Conserved Domains (2) summary
    cd13346
    Location:21 → 195
    PH-GRAM_MTMR10; Myotubularian (MTM) related 10 protein (MTMR10) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    pfam06602
    Location:226 → 507
    Myotub-related; Myotubularin-like phosphatase domain

  2. XM_047432771.1 → XP_047288727.1  myotubularin-related protein 10 isoform X2

  3. XM_047432770.1 → XP_047288726.1  myotubularin-related protein 10 isoform X1

  4. XM_047432772.1 → XP_047288728.1  myotubularin-related protein 10 isoform X1

  5. XM_011521738.4 → XP_011520040.1  myotubularin-related protein 10 isoform X4

    See identical proteins and their annotated locations for XP_011520040.1

    UniProtKB/TrEMBL
    X5D300
    Related
    ENSP00000457390.1, ENST00000563714.5
    Conserved Domains (2) summary
    cd13346
    Location:21 → 195
    PH-GRAM_MTMR10; Myotubularian (MTM) related 10 protein (MTMR10) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    pfam06602
    Location:226 → 507
    Myotub-related; Myotubularin-like phosphatase domain

  6. XM_047432773.1 → XP_047288729.1  myotubularin-related protein 10 isoform X5

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_011332701.1 Reference GRCh38.p14 PATCHES

    Range
    3091618..3164928 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054331800.1 → XP_054187775.1  myotubularin-related protein 10 isoform X3

  2. XM_054331799.1 → XP_054187774.1  myotubularin-related protein 10 isoform X2

  3. XM_054331798.1 → XP_054187773.1  myotubularin-related protein 10 isoform X1

  4. XM_054331803.1 → XP_054187778.1  myotubularin-related protein 10 isoform X1

  5. XM_054331802.1 → XP_054187777.1  myotubularin-related protein 10 isoform X1

  6. XM_054331801.1 → XP_054187776.1  myotubularin-related protein 10 isoform X4

  7. XM_054331804.1 → XP_054187779.1  myotubularin-related protein 10 isoform X5

Reference GRCh38.p14 ALT_REF_LOCI_2

Genomic

  1. NT_187660.1 Reference GRCh38.p14 ALT_REF_LOCI_2

    Range
    3204070..3277380 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054330028.1 → XP_054186003.1  myotubularin-related protein 10 isoform X3

  2. XM_054330027.1 → XP_054186002.1  myotubularin-related protein 10 isoform X2

  3. XM_054330026.1 → XP_054186001.1  myotubularin-related protein 10 isoform X1

  4. XM_054330031.1 → XP_054186006.1  myotubularin-related protein 10 isoform X1

  5. XM_054330030.1 → XP_054186005.1  myotubularin-related protein 10 isoform X1

  6. XM_054330029.1 → XP_054186004.1  myotubularin-related protein 10 isoform X4

  7. XM_054330032.1 → XP_054186007.1  myotubularin-related protein 10 isoform X5

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060939.1 Alternate T2T-CHM13v2.0

    Range
    28712307..28785709 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054378320.1 → XP_054234295.1  myotubularin-related protein 10 isoform X3

  2. XM_054378319.1 → XP_054234294.1  myotubularin-related protein 10 isoform X2

  3. XM_054378318.1 → XP_054234293.1  myotubularin-related protein 10 isoform X1

  4. XM_054378322.1 → XP_054234297.1  myotubularin-related protein 10 isoform X1

  5. XM_054378321.1 → XP_054234296.1  myotubularin-related protein 10 isoform X4

  6. XM_054378323.1 → XP_054234298.1  myotubularin-related protein 10 isoform X5

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9NXD2.3 GenPept UniProtKB/Swiss-Prot:Q9NXD2

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous