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MTMR8 myotubularin related protein 8 [ Homo sapiens (human) ]

Gene ID: 55613, updated on 8-Jul-2021

Summary

Official Symbol
MTMR8provided by HGNC
Official Full Name
myotubularin related protein 8provided by HGNC
Primary source
HGNC:HGNC:16825
See related
Ensembl:ENSG00000102043 MIM:301061
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
Summary
This gene encodes a member of the myotubularin-related family and is part of the MTMR6 subgroup. Family members are dual-specificity phosphatases and the encoded protein contains a phosphoinositide-binding domain (PID) and a SET-interacting domain (SID). Defects in other family members have been found in myotubular myopathic diseases. [provided by RefSeq, Mar 2010]
Expression
Low expression observed in reference dataset See more
Orthologs
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Genomic context

See MTMR8 in Genome Data Viewer
Location:
Xq11.2
Exon count:
14
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (64268081..64395452, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (63487961..63615332, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene RNA, 7SL, cytoplasmic 799, pseudogene Neighboring gene ankyrin repeat and SOCS box containing 12 Neighboring gene uncharacterized LOC112268307 Neighboring gene KPNA4 pseudogene 1 Neighboring gene profilin 5, pseudogene Neighboring gene SHC adaptor protein 1 pseudogene 1

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

Potential readthrough

Included gene: ASB12

Homology

Clone Names

  • FLJ20126, FLJ60798

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity IEA
Inferred from Electronic Annotation
more info
 
enables phosphatidylinositol-3,5-bisphosphate phosphatase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables phosphatidylinositol-3-phosphatase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein tyrosine phosphatase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in negative regulation of autophagy IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in peptidyl-tyrosine dephosphorylation IEA
Inferred from Electronic Annotation
more info
 
involved_in phosphatidylinositol dephosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in regulation of macroautophagy IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
is_active_in nuclear envelope IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in nuclear envelope IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
myotubularin-related protein 8
Names
phosphatidylinositol-3,5-bisphosphate 3-phosphatase
phosphatidylinositol-3-phosphate phosphatase
NP_060147.2

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.

Genomic

  1. NG_016567.1 RefSeqGene

    Range
    5002..132373
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_017677.4NP_060147.2  myotubularin-related protein 8

    See identical proteins and their annotated locations for NP_060147.2

    Status: REVIEWED

    Source sequence(s)
    AL356317, BC012399, DA691850
    Consensus CDS
    CCDS14379.1
    UniProtKB/Swiss-Prot
    Q96EF0
    Related
    ENSP00000363985.3, ENST00000374852.4
    Conserved Domains (2) summary
    cd13345
    Location:1103
    PH-GRAM_MTMR8; Myotubularian (MTM) related 8 protein (MTMR8) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    pfam06602
    Location:109446
    Myotub-related; Myotubularin-like phosphatase domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    64268081..64395452 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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