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

Gene ID: 9108, updated on 2-Nov-2024

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; AllianceGenome:HGNC:7454
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
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Genomic context

See MTMR7 in Genome Data Viewer
Location:
8p22
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (17296794..17413351, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (17564397..17680622, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (17154303..17270860, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986918 Neighboring gene zinc finger DHHC-type palmitoyltransferase 2 Neighboring gene NANOG hESC enhancer GRCh37_chr8:17090642-17091144 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:17104115-17104963 Neighboring gene CCR4-NOT transcription complex subunit 7 Neighboring gene VPS37A subunit of ESCRT-I Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_102346 Neighboring gene Sharpr-MPRA regulatory region 2048 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:17193352-17194551 Neighboring gene uncharacterized LOC102724838 Neighboring gene Sharpr-MPRA regulatory region 14094 Neighboring gene ADAM metallopeptidase domain 24, pseudogene Neighboring gene solute carrier family 7 member 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:17394687-17395188 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:17395189-17395688

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues 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

Clone Names

  • MGC163449, MGC163451, DKFZp781E194

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in phosphatidylinositol biosynthetic process TAS
Traceable Author Statement
more info
 
involved_in phosphatidylinositol dephosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in protein dephosphorylation TAS
Traceable Author Statement
more info
PubMed 
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
 
located_in endomembrane system IEA
Inferred from Electronic Annotation
more info
 
located_in membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
phosphatidylinositol-3-phosphate phosphatase MTMR7; myotubularin-related protein 7
Names
inositol 1,3-bisphosphate phosphatase
phosphatidylinositol-3-phosphate phosphatase
NP_004677.3
XP_006716477.2
XP_011542995.1
XP_047278363.1
XP_047278364.1
XP_054217456.1
XP_054217457.1
XP_054217458.1
XP_054217459.1

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_004686.5NP_004677.3  phosphatidylinositol-3-phosphate phosphatase MTMR7

    See identical proteins and their annotated locations for NP_004677.3

    Status: REVIEWED

    Source sequence(s)
    AC124074, AK316022, AK316283, AW014721, BC130579
    Consensus CDS
    CCDS34851.1
    UniProtKB/Swiss-Prot
    A1L4K9, B4DG87, Q68DX4, Q9Y216
    UniProtKB/TrEMBL
    B7Z9Q7, B7ZAG8
    Related
    ENSP00000180173.4, ENST00000180173.10
    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
    cd14583
    Location:132433
    PTP-MTMR7; protein tyrosine phosphatase-like domain of myotubularin related phosphoinositide phosphatase 7

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_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    17296794..17413351 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047422407.1XP_047278363.1  myotubularin-related protein 7 isoform X1

  2. XM_011544693.3XP_011542995.1  myotubularin-related protein 7 isoform X3

    See identical proteins and their annotated locations for XP_011542995.1

    Conserved Domains (1) summary
    pfam06602
    Location:8209
    Myotub-related; Myotubularin-like phosphatase domain
  3. XM_006716414.4XP_006716477.2  myotubularin-related protein 7 isoform X3

    See identical proteins and their annotated locations for XP_006716477.2

    Conserved Domains (1) summary
    pfam06602
    Location:8209
    Myotub-related; Myotubularin-like phosphatase domain
  4. XM_047422408.1XP_047278364.1  myotubularin-related protein 7 isoform X2

    Related
    ENSP00000429733.1, ENST00000521857.5

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    17564397..17680622 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054361481.1XP_054217456.1  myotubularin-related protein 7 isoform X1

  2. XM_054361483.1XP_054217458.1  myotubularin-related protein 7 isoform X3

  3. XM_054361484.1XP_054217459.1  myotubularin-related protein 7 isoform X3

  4. XM_054361482.1XP_054217457.1  myotubularin-related protein 7 isoform X2