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MTMR6 myotubularin related protein 6 [ Homo sapiens (human) ]

Gene ID: 9107, updated on 4-May-2020

Summary

Official Symbol
MTMR6provided by HGNC
Official Full Name
myotubularin related protein 6provided by HGNC
Primary source
HGNC:HGNC:7453
See related
Ensembl:ENSG00000139505 MIM:603561
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 testis (RPKM 13.0), adrenal (RPKM 12.0) and 25 other tissues See more
Orthologs

Genomic context

See MTMR6 in Genome Data Viewer
Location:
13q12.13
Exon count:
16
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 13 NC_000013.11 (25246201..25287512, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (25820339..25861704, complement)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene ribosomal protein L23a pseudogene 69 Neighboring gene uncharacterized LOC105370121 Neighboring gene nucleoporin 58 Neighboring gene CRISPRi-validated cis-regulatory element chr13.188

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?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
phosphatidylinositol-3,5-bisphosphate phosphatase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phosphatidylinositol-3,5-bisphosphate phosphatase activity IDA
Inferred from Direct Assay
more info
PubMed 
phosphatidylinositol-3-phosphatase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phosphatidylinositol-3-phosphatase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein serine/threonine phosphatase activity NAS
Non-traceable Author Statement
more info
PubMed 
protein tyrosine phosphatase activity NAS
Non-traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
endocytosis IEA
Inferred from Electronic Annotation
more info
 
peptidyl-tyrosine dephosphorylation IEA
Inferred from Electronic Annotation
more info
 
phosphatidylinositol biosynthetic process TAS
Traceable Author Statement
more info
 
phosphatidylinositol dephosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phosphatidylinositol dephosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
protein dephosphorylation NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum-Golgi intermediate compartment IEA
Inferred from Electronic Annotation
more info
 
membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nuclear envelope IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nuclear envelope IDA
Inferred from Direct Assay
more info
PubMed 
perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
more info
 
ruffle membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
myotubularin-related protein 6
Names
phosphatidylinositol-3,5-bisphosphate 3-phosphatase
phosphatidylinositol-3-phosphate phosphatase
NP_004676.3
XP_011533608.1
XP_011533609.1
XP_016876334.1
XP_016876335.1

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_004685.4NP_004676.3  myotubularin-related protein 6

    See identical proteins and their annotated locations for NP_004676.3

    Status: VALIDATED

    Source sequence(s)
    AL590787
    Consensus CDS
    CCDS9313.1
    UniProtKB/Swiss-Prot
    Q9Y217
    Related
    ENSP00000371221.5, ENST00000381801.5
    Conserved Domains (2) summary
    cd13343
    Location:1101
    PH-GRAM_MTMR6; Myotubularian (MTM) related (MTMR) 6 protein Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    pfam06602
    Location:107444
    Myotub-related; Myotubularin-like phosphatase domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p13 Primary Assembly

    Range
    25246201..25287512 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017020845.1XP_016876334.1  myotubularin-related protein 6 isoform X3

    Conserved Domains (2) summary
    cd13343
    Location:1101
    PH-GRAM_MTMR6; Myotubularian (MTM) related (MTMR) 6 protein Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    pfam06602
    Location:107444
    Myotub-related; Myotubularin-like phosphatase domain
  2. XM_011535307.1XP_011533609.1  myotubularin-related protein 6 isoform X2

    Conserved Domains (2) summary
    cd13343
    Location:1101
    PH-GRAM_MTMR6; Myotubularian (MTM) related (MTMR) 6 protein Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    pfam06602
    Location:107482
    Myotub-related; Myotubularin-like phosphatase domain
  3. XM_011535306.1XP_011533608.1  myotubularin-related protein 6 isoform X1

    Conserved Domains (2) summary
    cd13343
    Location:1101
    PH-GRAM_MTMR6; Myotubularian (MTM) related (MTMR) 6 protein Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    pfam06602
    Location:107482
    Myotub-related; Myotubularin-like phosphatase domain
  4. XM_017020846.1XP_016876335.1  myotubularin-related protein 6 isoform X4

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