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

Gene ID: 54893, updated on 10-Dec-2024

Summary

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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 be involved in phosphatidylinositol dephosphorylation. Located in cytoplasm. [provided by Alliance of Genome Resources, Dec 2024]
Expression
Ubiquitous expression in kidney (RPKM 17.0), placenta (RPKM 15.7) and 25 other tissues See more
Orthologs
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Genomic context

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See MTMR10 in Genome Data Viewer
Location:
15q13.3
Exon count:
20
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (30918716..30991628, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (28712307..28785709, complement)
RS_2024_09 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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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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. Cooperative polarization of MCAM/CD146 and ERM family proteins in melanoma. Miller SG, et al. Mol Biol Cell, 2024 Mar 1. PMID 38117590, Free PMC Article

See all (24) citations in PubMed

GeneRIFs: Gene References Into Functions

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
Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid 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)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ20313

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables phosphatidylinositol-3-phosphate phosphatase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
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
  
is_active_in membrane IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
myotubularin-related protein 10
Names
inactive phosphatidylinositol 3-phosphatase 10

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_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_2024_08

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

    UniProtKB/TrEMBL
    X5D300

  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

    UniProtKB/TrEMBL
    X5D300

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

    UniProtKB/TrEMBL
    X5D300

  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

    UniProtKB/TrEMBL
    X5D300

  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

    UniProtKB/TrEMBL
    X5D300

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

    UniProtKB/TrEMBL
    X5D300

  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

    UniProtKB/TrEMBL
    X5D300

  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

    UniProtKB/TrEMBL
    X5D300

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

    UniProtKB/TrEMBL
    X5D300

  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

    UniProtKB/TrEMBL
    X5D300

  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

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