Format

Send to:

Choose Destination

MTMR7 myotubularin related protein 7 [ Homo sapiens (human) ]

Gene ID: 9108, updated on 5-Aug-2018

Summary

Official Symbol
MTMR7provided by HGNC
Official Full Name
myotubularin related protein 7provided by HGNC
Primary source
HGNC:HGNC:7454
See related
Ensembl:ENSG00000003987 MIM:603562; Vega:OTTHUMG00000163771
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 family of tyrosine/dual-specificity phosphatases. The encoded protein is characterized by four distinct domains that are conserved among all members of the myotubularin family: the glucosyltransferase, Rab-like GTPase activator and myotubularins domain, the Rac-induced recruitment domain, the protein tyrosine phosphatases and dual-specificity phosphatases domain and the suppressor of variegation 3-9, enhancer-of-zeste, and trithorax interaction domain. This protein dephosphorylates the target substrates phosphatidylinositol 3-phosphate and inositol 1,3-bisphosphate. A pseudogene of this gene is found on chromosome 5. [provided by RefSeq, Mar 2009]
Expression
Ubiquitous expression in brain (RPKM 4.2), thyroid (RPKM 1.7) and 24 other tissues See more
Orthologs

Genomic context

See MTMR7 in Genome Data Viewer
Location:
8p22
Exon count:
17
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 8 NC_000008.11 (17296128..17413531, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (17154306..17271040, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986918 Neighboring gene zinc finger DHHC-type containing 2 Neighboring gene CCR4-NOT transcription complex subunit 7 Neighboring gene VPS37A, ESCRT-I subunit Neighboring gene uncharacterized LOC102724838 Neighboring gene ADAM metallopeptidase domain 24, pseudogene Neighboring gene solute carrier family 7 member 2

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC163449, MGC163451, DKFZp781E194

Gene Ontology Provided by GOA

Function Evidence Code Pubs
phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity TAS
Traceable Author Statement
more info
 
phosphatidylinositol-3-phosphatase activity TAS
Traceable Author Statement
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein tyrosine phosphatase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
inositol phosphate dephosphorylation 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 IEA
Inferred from Electronic Annotation
more info
 
protein dephosphorylation TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
myotubularin-related protein 7
NP_004677.3
XP_006716477.2
XP_011542995.1
XP_016869445.1
XP_024303093.1

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_004686.4NP_004677.3  myotubularin-related protein 7

    See identical proteins and their annotated locations for NP_004677.3

    Status: REVIEWED

    Source sequence(s)
    AC124074, AK316022, AK316283, AW014721, BC130579, DC325464
    Consensus CDS
    CCDS34851.1
    UniProtKB/Swiss-Prot
    Q9Y216
    UniProtKB/TrEMBL
    B7Z9Q7, B7ZAG8
    Related
    ENSP00000180173.4, OTTHUMP00000224794, ENST00000180173.9, OTTHUMT00000375311
    Conserved Domains (2) summary
    cd13344
    Location:1103
    PH-GRAM_MTMR7; Myotubularian (MTM) related 7 protein (MTMR7) 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 Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p12 Primary Assembly

    Range
    17296128..17413531 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017013956.2XP_016869445.1  myotubularin-related protein 7 isoform X3

  2. XM_024447325.1XP_024303093.1  myotubularin-related protein 7 isoform X1

    Conserved Domains (1) summary
    pfam06602
    Location:1227
    Myotub-related; Myotubularin-like phosphatase domain
  3. XM_011544693.2XP_011542995.1  myotubularin-related protein 7 isoform X2

    See identical proteins and their annotated locations for XP_011542995.1

    Conserved Domains (1) summary
    pfam06602
    Location:8209
    Myotub-related; Myotubularin-like phosphatase domain
  4. XM_006716414.3XP_006716477.2  myotubularin-related protein 7 isoform X2

    See identical proteins and their annotated locations for XP_006716477.2

    Conserved Domains (1) summary
    pfam06602
    Location:8209
    Myotub-related; Myotubularin-like phosphatase domain
Support Center