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

Gene ID: 54893, updated on 21-Dec-2019

Summary

Official Symbol
MTMR10provided by HGNC
Official Full Name
myotubularin related protein 10provided by HGNC
Primary source
HGNC:HGNC:25999
See related
Ensembl:ENSG00000166912
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
Expression
Ubiquitous expression in kidney (RPKM 17.0), placenta (RPKM 15.7) and 25 other tissues See more
Orthologs

Genomic context

See MTMR10 in Genome Data Viewer
Location:
15q13.3
Exon count:
18
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (30919764..30991628, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (31220854..31283807, complement)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene endonuclease domain containing 1 pseudogene Neighboring gene hect domain and RLD 2 pseudogene 10 Neighboring gene transmembrane protein 183A pseudogene Neighboring gene FANCD2 and FANCI associated nuclease 1 Neighboring gene RNA, U6 small nuclear 466, pseudogene Neighboring gene uncharacterized LOC105370752 Neighboring gene transient receptor potential cation channel subfamily M member 1 Neighboring gene microRNA 211

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

Phenotypes

NHGRI GWAS Catalog

Description
Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ20313

Gene Ontology Provided by GOA

Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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_017762.3NP_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
    Q9NXD2
    UniProtKB/TrEMBL
    X5D963
    Related
    ENSP00000402537.1, ENST00000435680.6
    Conserved Domains (3) summary
    cd13346
    Location:21195
    PH-GRAM_MTMR10; Myotubularian (MTM) related 10 protein (MTMR10) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    pfam06602
    Location:226507
    Myotub-related; Myotubularin-like phosphatase domain
    pfam12578
    Location:578705
    3-PAP; Myotubularin-associated protein

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p13 Primary Assembly

    Range
    30919764..30991628 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011521737.3XP_011520039.1  myotubularin-related protein 10 isoform X2

    See identical proteins and their annotated locations for XP_011520039.1

    Conserved Domains (2) summary
    cd13346
    Location:21195
    PH-GRAM_MTMR10; Myotubularian (MTM) related 10 protein (MTMR10) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    pfam06602
    Location:226507
    Myotub-related; Myotubularin-like phosphatase domain
  2. XM_005254508.3XP_005254565.1  myotubularin-related protein 10 isoform X4

    See identical proteins and their annotated locations for XP_005254565.1

    Conserved Domains (2) summary
    pfam12578
    Location:330457
    3-PAP; Myotubularin-associated protein
    cl21483
    Location:7259
    PTPc; Protein tyrosine phosphatases (PTP) catalyze the dephosphorylation of phosphotyrosine peptides; they regulate phosphotyrosine levels in signal transduction pathways. The depth of the active site cleft renders the enzyme specific for phosphorylated Tyr ...
  3. XM_017022384.2XP_016877873.1  myotubularin-related protein 10 isoform X1

  4. XM_011521738.3XP_011520040.1  myotubularin-related protein 10 isoform X3

    See identical proteins and their annotated locations for XP_011520040.1

    Related
    ENSP00000457390.1, ENST00000563714.5
    Conserved Domains (2) summary
    cd13346
    Location:21195
    PH-GRAM_MTMR10; Myotubularian (MTM) related 10 protein (MTMR10) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    pfam06602
    Location:226507
    Myotub-related; Myotubularin-like phosphatase domain

RNA

  1. XR_931859.3 RNA Sequence

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_011332701.1 Reference GRCh38.p13 PATCHES

    Range
    3112222..3164928 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_2

Genomic

  1. NT_187660.1 Reference GRCh38.p13 ALT_REF_LOCI_2

    Range
    3224674..3277380 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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