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

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: mouse all
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Genomic context

Location:: 8p22

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (17296794..17413351, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (17564397..17680622, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (17154303..17270860, complement)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

MTMR7 has a role inhibiting insulin signaling in colorectal cancer
Title: Myotubularin-related protein 7 inhibits insulin signaling in colorectal cancer.
The MTMR7 gene is linked to variant Creutzfeldt-Jakob risk in a genome-wide study.
Title: Genome-wide study links MTMR7 gene to variant Creutzfeldt-Jakob risk.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide study links MTMR7 gene to variant Creutzfeldt-Jakob risk. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

A008M23 (e-PCR)
- UniSTS:35155

D8S1687 (e-PCR)
- UniSTS:61623

SHGC-112498 (e-PCR)
- UniSTS:168639

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables inositol bisphosphate phosphatase activity	IEA Inferred from Electronic Annotation more info
enables phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity	TAS Traceable Author Statement more info
enables phosphatidylinositol-3,5-bisphosphate phosphatase activity	IBA Inferred from Biological aspect of Ancestor more info
enables phosphatidylinositol-3-phosphate phosphatase activity	IBA Inferred from Biological aspect of Ancestor more info
enables phosphatidylinositol-3-phosphate phosphatase activity	TAS Traceable Author Statement more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein tyrosine phosphatase activity	TAS Traceable Author Statement more info	PubMed

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

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Preferred Names: myotubularin-related protein 7

Names: inositol 1,3-bisphosphate phosphatase; phosphatidylinositol-3-phosphate phosphatase

NP_004677.3

EC 3.1.3.64

XP_006716477.2

EC 3.1.3.64

XP_011542995.1

EC 3.1.3.64

XP_047278363.1

EC 3.1.3.64

XP_047278364.1

EC 3.1.3.64

XP_054217456.1

EC 3.1.3.64

XP_054217457.1

EC 3.1.3.64

XP_054217458.1

EC 3.1.3.64

XP_054217459.1

EC 3.1.3.64

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)

NM_004686.5 → NP_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

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:1 → 103

PH-GRAM_MTMR7; Myotubularian (MTM) related 7 protein (MTMR7) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain

cd14583
Location:132 → 433

PTP-MTMR7; protein tyrosine phosphatase-like domain of myotubularin related phosphoinositide phosphatase 7