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UniProtKB - Q9Y216 (MTMR7_HUMAN)

Entry version 169 (07 Apr 2021)
Sequence version 3 (18 May 2010)
Previous versions | rss
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Protein

Myotubularin-related protein 7

Gene

MTMR7

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Phosphatase that specifically dephosphorylates phosphatidylinositol 3-phosphate (PtdIns3P) and inositol 1,3-bisphosphate (Ins(1,3)P2).By similarity

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes regulatory mechanisms for enzymes, transporters or microbial transcription factors, and reports the components which regulate (by activation or inhibition) the reaction.<p><a href='/help/activity_regulation' target='_top'>More...</a></p>Activity regulationi

Interaction with MTMR9 increases phosphatase activity.By similarity

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei338Phosphocysteine intermediatePROSITE-ProRule annotation1
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei384SubstrateBy similarity1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionHydrolase

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q9Y216

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-1660517, Synthesis of PIPs at the late endosome membrane
R-HSA-1855183, Synthesis of IP2, IP, and Ins in the cytosol

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Myotubularin-related protein 7
Alternative name(s):
Inositol 1,3-bisphosphate phosphataseCurated (EC:3.1.3.-By similarity)
Phosphatidylinositol-3-phosphate phosphataseCurated (EC:3.1.3.64By similarity)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:MTMR7
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 8

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:7454, MTMR7

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		603562, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9Y216

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000003987.13

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Keywords - Cellular componenti

Cytoplasm, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Organism-specific databases

DisGeNET

More...DisGeNETi		9108

Open Targets

More...OpenTargetsi		ENSG00000003987

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA31257

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q9Y216, Tdark

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		MTMR7

Domain mapping of disease mutations (DMDM)

More...DMDMi		296439297

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000949401 – 660Myotubularin-related protein 7Add BLAST660

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei578PhosphothreonineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q9Y216

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q9Y216

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q9Y216

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q9Y216

PeptideAtlas

More...PeptideAtlasi		Q9Y216

PRoteomics IDEntifications database

More...PRIDEi		Q9Y216

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		85591 [Q9Y216-1]
85592 [Q9Y216-2]

PTM databases

DEPOD human dephosphorylation database

More...DEPODi		MTMR7

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9Y216

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q9Y216

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed specifically in brain.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000003987, Expressed in corpus callosum and 127 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q9Y216, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9Y216, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000003987, Tissue enhanced (brain, parathyroid gland)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Heterodimer (via C-terminus) with MTMR9 (via coiled coil domain); the interaction enhances MTMR7 catalytic activity (By similarity). Does not homodimerize (By similarity).

Interacts with RAB1B (in GDP-bound form) (By similarity).

By similarity

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		114559, 62 interactors

Protein interaction database and analysis system

More...IntActi		Q9Y216, 8 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000180173

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q9Y216, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q9Y216

Database of comparative protein structure models

More...ModBasei		Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini126 – 504Myotubularin phosphatasePROSITE-ProRule annotationAdd BLAST379

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni250 – 253Substrate bindingBy similarity4
Regioni275 – 276Substrate bindingBy similarity2
Regioni338 – 344Substrate bindingBy similarity7

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and domains' section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili521 – 551Sequence analysisAdd BLAST31

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG1089, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000155777

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_001839_3_2_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9Y216

Identification of Orthologs from Complete Genome Data

More...OMAi		RSETWVL

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9Y216

TreeFam database of animal gene trees

More...TreeFami		TF315197

Family and domain databases

Conserved Domains Database

More...CDDi		cd13344, PH-GRAM_MTMR7, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		2.30.29.30, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR030572, MTMR7
IPR036003, MTMR7_PH-GRAM
IPR010569, Myotubularin-like_Pase_dom
IPR030564, Myotubularin_fam
IPR011993, PH-like_dom_sf
IPR029021, Prot-tyrosine_phosphatase-like
IPR016130, Tyr_Pase_AS
IPR003595, Tyr_Pase_cat
IPR000387, TYR_PHOSPHATASE_dom

The PANTHER Classification System

More...PANTHERi		PTHR10807, PTHR10807, 1 hit
PTHR10807:SF35, PTHR10807:SF35, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF06602, Myotub-related, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00404, PTPc_motif, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF52799, SSF52799, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS51339, PPASE_MYOTUBULARIN, 1 hit
PS00383, TYR_PHOSPHATASE_1, 1 hit
PS50056, TYR_PHOSPHATASE_2, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9Y216-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MEHIRTPKVE NVRLVDRVSP KKAALGTLYL TATHVIFVEN SPDPRKETWI 
        60         70         80         90        100
LHSQISTIEK QATTATGCPL LIRCKNFQII QLIIPQERDC HDVYISLIRL 
       110        120        130        140        150
ARPVKYEELY CFSFNPMLDK EEREQGWVLI DLSEEYTRMG LPNHYWQLSD 
       160        170        180        190        200
VNRDYRVCDS YPTELYVPKS ATAHIIVGSS KFRSRRRFPV LSYYYKDNHA 
       210        220        230        240        250
SICRSSQPLS GFSARCLEDE QMLQAIRKAN PGSDFVYVVD TRPKLNAMAN 
       260        270        280        290        300
RAAGKGYENE DNYSNIKFQF IGIENIHVMR NSLQKMLEVC ELKSPSMSDF 
       310        320        330        340        350
LWGLENSGWL RHIKAIMDAG IFIAKAVSEE GASVLVHCSD GWDRTAQVCS 
       360        370        380        390        400
VASLLLDPHY RTLKGFMVLI EKDWISFGHK FNHRYGNLDG DPKEISPVID 
       410        420        430        440        450
QFIECVWQLM EQFPCAFEFN ERFLIHIQHH IYSCQFGNFL CNSQKERREL 
       460        470        480        490        500
KIQERTYSLW AHLWKNRADY LNPLFRADHS QTQGTLHLPT TPCNFMYKFW 
       510        520        530        540        550
SGMYNRFEKG MQPRQSVTDY LMAVKEETQQ LEEELEALEE RLEKIQKVQL 
       560        570        580        590        600
NCTKVKSKQS EPSKHSGFST SDNSIANTPQ DYSGNMKSFP SRSPSQGDED 
       610        620        630        640        650
SALILTQDNL KSSDPDLSAN SDQESGVEDL SCRSPSGGEH APSEDSGKDR 
       660
DSDEAVFLTA
Length:660
Mass (Da):75,833
Last modified:May 18, 2010 - v3
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i05374B19BB500580
GO
Isoform 2 (identifier: Q9Y216-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     541-577: RLEKIQKVQLNCTKVKSKQSEPSKHSGFSTSDNSIAN → VRHTCFVNLFSVLIS
     578-660: Missing.

Show »
Length:555
Mass (Da):64,702
Checksum:iBA62261413CA0483
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E5RK11E5RK11_HUMAN
Myotubularin-related protein 7
MTMR7
105Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti241T → A in CAH18096 (PubMed:17974005).Curated1
Sequence conflicti470Y → N in AAC77820 (PubMed:15489334).Curated1
Sequence conflicti473P → L in AAC77820 (PubMed:15489334).Curated1
Sequence conflicti486L → F in AAC77820 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_05977944P → A3 PublicationsCorresponds to variant dbSNP:rs7388581Ensembl.1
Natural variantiVAR_057144559Q → H1 PublicationCorresponds to variant dbSNP:rs3764796Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_017000541 – 577RLEKI…NSIAN → VRHTCFVNLFSVLIS in isoform 2. 1 PublicationAdd BLAST37
Alternative sequenceiVSP_017001578 – 660Missing in isoform 2. 1 PublicationAdd BLAST83

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
AK294468 mRNA Translation: BAG57698.1
CR749240 mRNA Translation: CAH18096.1
AC124074 Genomic DNA No translation available.
BC130577 mRNA Translation: AAI30578.1
BC130579 mRNA Translation: AAI30580.1
AF073482 mRNA Translation: AAC77820.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS34851.1 [Q9Y216-1]

NCBI Reference Sequences

More...RefSeqi		NP_004677.3, NM_004686.4 [Q9Y216-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000180173; ENSP00000180173; ENSG00000003987 [Q9Y216-1]
ENST00000521857; ENSP00000429733; ENSG00000003987 [Q9Y216-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		9108

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:9108

UCSC genome browser

More...UCSCi		uc003wxm.4, human [Q9Y216-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK294468 mRNA Translation: BAG57698.1
CR749240 mRNA Translation: CAH18096.1
AC124074 Genomic DNA No translation available.
BC130577 mRNA Translation: AAI30578.1
BC130579 mRNA Translation: AAI30580.1
AF073482 mRNA Translation: AAC77820.1
CCDSiCCDS34851.1 [Q9Y216-1]
RefSeqiNP_004677.3, NM_004686.4 [Q9Y216-1]

3D structure databases

SMRiQ9Y216
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi114559, 62 interactors
IntActiQ9Y216, 8 interactors
STRINGi9606.ENSP00000180173

PTM databases

DEPODiMTMR7
iPTMnetiQ9Y216
PhosphoSitePlusiQ9Y216

Genetic variation databases

BioMutaiMTMR7
DMDMi296439297

Proteomic databases

EPDiQ9Y216
jPOSTiQ9Y216
MassIVEiQ9Y216
PaxDbiQ9Y216
PeptideAtlasiQ9Y216
PRIDEiQ9Y216
ProteomicsDBi85591 [Q9Y216-1]
85592 [Q9Y216-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		1473, 66 antibodies

The DNASU plasmid repository

More...DNASUi		9108

Genome annotation databases

EnsembliENST00000180173; ENSP00000180173; ENSG00000003987 [Q9Y216-1]
ENST00000521857; ENSP00000429733; ENSG00000003987 [Q9Y216-2]
GeneIDi9108
KEGGihsa:9108
UCSCiuc003wxm.4, human [Q9Y216-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		9108
DisGeNETi9108

GeneCards: human genes, protein and diseases

More...GeneCardsi		MTMR7
HGNCiHGNC:7454, MTMR7
HPAiENSG00000003987, Tissue enhanced (brain, parathyroid gland)
MIMi603562, gene
neXtProtiNX_Q9Y216
OpenTargetsiENSG00000003987
PharmGKBiPA31257
VEuPathDBiHostDB:ENSG00000003987.13

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG1089, Eukaryota
GeneTreeiENSGT00940000155777
HOGENOMiCLU_001839_3_2_1
InParanoidiQ9Y216
OMAiRSETWVL
PhylomeDBiQ9Y216
TreeFamiTF315197

Enzyme and pathway databases

PathwayCommonsiQ9Y216
ReactomeiR-HSA-1660517, Synthesis of PIPs at the late endosome membrane
R-HSA-1855183, Synthesis of IP2, IP, and Ins in the cytosol

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		9108, 5 hits in 988 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		MTMR7, human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		9108
PharosiQ9Y216, Tdark

Protein Ontology

More...PROi		PR:Q9Y216
RNActiQ9Y216, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000003987, Expressed in corpus callosum and 127 other tissues
ExpressionAtlasiQ9Y216, baseline and differential
GenevisibleiQ9Y216, HS

Family and domain databases

CDDicd13344, PH-GRAM_MTMR7, 1 hit
Gene3Di2.30.29.30, 1 hit
InterProiView protein in InterPro
IPR030572, MTMR7
IPR036003, MTMR7_PH-GRAM
IPR010569, Myotubularin-like_Pase_dom
IPR030564, Myotubularin_fam
IPR011993, PH-like_dom_sf
IPR029021, Prot-tyrosine_phosphatase-like
IPR016130, Tyr_Pase_AS
IPR003595, Tyr_Pase_cat
IPR000387, TYR_PHOSPHATASE_dom
PANTHERiPTHR10807, PTHR10807, 1 hit
PTHR10807:SF35, PTHR10807:SF35, 1 hit
PfamiView protein in Pfam
PF06602, Myotub-related, 1 hit
SMARTiView protein in SMART
SM00404, PTPc_motif, 1 hit
SUPFAMiSSF52799, SSF52799, 1 hit
PROSITEiView protein in PROSITE
PS51339, PPASE_MYOTUBULARIN, 1 hit
PS00383, TYR_PHOSPHATASE_1, 1 hit
PS50056, TYR_PHOSPHATASE_2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiMTMR7_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9Y216
Secondary accession number(s): A1L4K9, B4DG87, Q68DX4
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: May 18, 2010
Last modified: April 7, 2021
This is version 169 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families
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