UniProtKB - Q9Y216 (MTMR7_HUMAN)
Protein
Myotubularin-related protein 7
Gene
MTMR7
Organism
Homo sapiens (Human)
Status
Functioni
Phosphatase that specifically dephosphorylates phosphatidylinositol 3-phosphate (PtdIns3P) and inositol 1,3-bisphosphate (Ins(1,3)P2).By similarity
Catalytic activityi
- a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-3-phosphate) + H2O = a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol) + phosphateBy similarityEC:3.1.3.64By similarity
Activity regulationi
Interaction with MTMR9 increases phosphatase activity.By similarity
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Active sitei | 338 | Phosphocysteine intermediatePROSITE-ProRule annotation | 1 | |
Binding sitei | 384 | SubstrateBy similarity | 1 |
GO - Molecular functioni
- inositol bisphosphate phosphatase activity Source: RHEA
- phosphatidylinositol-3-phosphatase activity Source: GO_Central
- protein tyrosine phosphatase activity Source: ProtInc
GO - Biological processi
- inositol phosphate dephosphorylation Source: Ensembl
- phosphatidylinositol biosynthetic process Source: Reactome
- phosphatidylinositol dephosphorylation Source: GO_Central
- protein dephosphorylation Source: ProtInc
Keywordsi
Molecular function | Hydrolase |
Enzyme and pathway databases
PathwayCommonsi | Q9Y216 |
Reactomei | R-HSA-1660517, Synthesis of PIPs at the late endosome membrane R-HSA-1855183, Synthesis of IP2, IP, and Ins in the cytosol |
Names & Taxonomyi
Protein namesi | |
Gene namesi | Name:MTMR7 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:7454, MTMR7 |
MIMi | 603562, gene |
neXtProti | NX_Q9Y216 |
VEuPathDBi | HostDB:ENSG00000003987.13 |
Subcellular locationi
Cytoplasm and Cytosol
- Cytoplasm 1 Publication
Other locations
- Endomembrane system By similarity; Peripheral membrane protein By similarity; Cytoplasmic side By similarity
Note: May partially localize to endosomes and/or the Golgi apparatus.By similarity
Cytosol
- cytosol Source: Reactome
Other locations
- cytoplasm Source: UniProtKB
- endomembrane system Source: UniProtKB-SubCell
- membrane Source: UniProtKB-KW
Keywords - Cellular componenti
Cytoplasm, MembranePathology & Biotechi
Organism-specific databases
DisGeNETi | 9108 |
OpenTargetsi | ENSG00000003987 |
PharmGKBi | PA31257 |
Miscellaneous databases
Pharosi | Q9Y216, Tdark |
Genetic variation databases
BioMutai | MTMR7 |
DMDMi | 296439297 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000094940 | 1 – 660 | Myotubularin-related protein 7Add BLAST | 660 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 578 | PhosphothreonineBy similarity | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | Q9Y216 |
jPOSTi | Q9Y216 |
MassIVEi | Q9Y216 |
PaxDbi | Q9Y216 |
PeptideAtlasi | Q9Y216 |
PRIDEi | Q9Y216 |
ProteomicsDBi | 85591 [Q9Y216-1] 85592 [Q9Y216-2] |
PTM databases
DEPODi | MTMR7 |
iPTMneti | Q9Y216 |
PhosphoSitePlusi | Q9Y216 |
Expressioni
Tissue specificityi
Expressed specifically in brain.1 Publication
Gene expression databases
Bgeei | ENSG00000003987, Expressed in corpus callosum and 127 other tissues |
ExpressionAtlasi | Q9Y216, baseline and differential |
Genevisiblei | Q9Y216, HS |
Organism-specific databases
HPAi | ENSG00000003987, Tissue enhanced (brain, parathyroid gland) |
Interactioni
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 similarityBinary interactionsi
Hide detailsProtein-protein interaction databases
BioGRIDi | 114559, 62 interactors |
IntActi | Q9Y216, 8 interactors |
STRINGi | 9606.ENSP00000180173 |
Miscellaneous databases
RNActi | Q9Y216, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 126 – 504 | Myotubularin phosphatasePROSITE-ProRule annotationAdd BLAST | 379 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 250 – 253 | Substrate bindingBy similarity | 4 | |
Regioni | 275 – 276 | Substrate bindingBy similarity | 2 | |
Regioni | 338 – 344 | Substrate bindingBy similarity | 7 |
Coiled coil
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Coiled coili | 521 – 551 | Sequence analysisAdd BLAST | 31 |
Sequence similaritiesi
Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily.Curated
Keywords - Domaini
Coiled coilPhylogenomic databases
eggNOGi | KOG1089, Eukaryota |
GeneTreei | ENSGT00940000155777 |
HOGENOMi | CLU_001839_3_2_1 |
InParanoidi | Q9Y216 |
OMAi | RSETWVL |
PhylomeDBi | Q9Y216 |
TreeFami | TF315197 |
Family and domain databases
CDDi | cd13344, PH-GRAM_MTMR7, 1 hit |
Gene3Di | 2.30.29.30, 1 hit |
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 |
PANTHERi | PTHR10807, PTHR10807, 1 hit PTHR10807:SF35, PTHR10807:SF35, 1 hit |
Pfami | View protein in Pfam PF06602, Myotub-related, 1 hit |
SMARTi | View protein in SMART SM00404, PTPc_motif, 1 hit |
SUPFAMi | SSF52799, SSF52799, 1 hit |
PROSITEi | View protein in PROSITE PS51339, PPASE_MYOTUBULARIN, 1 hit PS00383, TYR_PHOSPHATASE_1, 1 hit PS50056, TYR_PHOSPHATASE_2, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis 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 sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketE5RK11 | E5RK11_HUMAN | Myotubularin-related protein 7 | MTMR7 | 105 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 241 | T → A in CAH18096 (PubMed:17974005).Curated | 1 | |
Sequence conflicti | 470 | Y → N in AAC77820 (PubMed:15489334).Curated | 1 | |
Sequence conflicti | 473 | P → L in AAC77820 (PubMed:15489334).Curated | 1 | |
Sequence conflicti | 486 | L → F in AAC77820 (PubMed:15489334).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_059779 | 44 | P → A3 PublicationsCorresponds to variant dbSNP:rs7388581Ensembl. | 1 | |
Natural variantiVAR_057144 | 559 | Q → H1 PublicationCorresponds to variant dbSNP:rs3764796Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_017000 | 541 – 577 | RLEKI…NSIAN → VRHTCFVNLFSVLIS in isoform 2. 1 PublicationAdd BLAST | 37 | |
Alternative sequenceiVSP_017001 | 578 – 660 | Missing in isoform 2. 1 PublicationAdd BLAST | 83 |
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 |
CCDSi | CCDS34851.1 [Q9Y216-1] |
RefSeqi | NP_004677.3, NM_004686.4 [Q9Y216-1] |
Genome annotation databases
Ensembli | ENST00000180173; ENSP00000180173; ENSG00000003987 [Q9Y216-1] ENST00000521857; ENSP00000429733; ENSG00000003987 [Q9Y216-2] |
GeneIDi | 9108 |
KEGGi | hsa:9108 |
UCSCi | uc003wxm.4, human [Q9Y216-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
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 |
CCDSi | CCDS34851.1 [Q9Y216-1] |
RefSeqi | NP_004677.3, NM_004686.4 [Q9Y216-1] |
3D structure databases
SMRi | Q9Y216 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 114559, 62 interactors |
IntActi | Q9Y216, 8 interactors |
STRINGi | 9606.ENSP00000180173 |
PTM databases
DEPODi | MTMR7 |
iPTMneti | Q9Y216 |
PhosphoSitePlusi | Q9Y216 |
Genetic variation databases
BioMutai | MTMR7 |
DMDMi | 296439297 |
Proteomic databases
EPDi | Q9Y216 |
jPOSTi | Q9Y216 |
MassIVEi | Q9Y216 |
PaxDbi | Q9Y216 |
PeptideAtlasi | Q9Y216 |
PRIDEi | Q9Y216 |
ProteomicsDBi | 85591 [Q9Y216-1] 85592 [Q9Y216-2] |
Protocols and materials databases
Antibodypediai | 1473, 66 antibodies |
DNASUi | 9108 |
Genome annotation databases
Ensembli | ENST00000180173; ENSP00000180173; ENSG00000003987 [Q9Y216-1] ENST00000521857; ENSP00000429733; ENSG00000003987 [Q9Y216-2] |
GeneIDi | 9108 |
KEGGi | hsa:9108 |
UCSCi | uc003wxm.4, human [Q9Y216-1] |
Organism-specific databases
CTDi | 9108 |
DisGeNETi | 9108 |
GeneCardsi | MTMR7 |
HGNCi | HGNC:7454, MTMR7 |
HPAi | ENSG00000003987, Tissue enhanced (brain, parathyroid gland) |
MIMi | 603562, gene |
neXtProti | NX_Q9Y216 |
OpenTargetsi | ENSG00000003987 |
PharmGKBi | PA31257 |
VEuPathDBi | HostDB:ENSG00000003987.13 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1089, Eukaryota |
GeneTreei | ENSGT00940000155777 |
HOGENOMi | CLU_001839_3_2_1 |
InParanoidi | Q9Y216 |
OMAi | RSETWVL |
PhylomeDBi | Q9Y216 |
TreeFami | TF315197 |
Enzyme and pathway databases
PathwayCommonsi | Q9Y216 |
Reactomei | R-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-ORCSi | 9108, 5 hits in 988 CRISPR screens |
ChiTaRSi | MTMR7, human |
GenomeRNAii | 9108 |
Pharosi | Q9Y216, Tdark |
PROi | PR:Q9Y216 |
RNActi | Q9Y216, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000003987, Expressed in corpus callosum and 127 other tissues |
ExpressionAtlasi | Q9Y216, baseline and differential |
Genevisiblei | Q9Y216, HS |
Family and domain databases
CDDi | cd13344, PH-GRAM_MTMR7, 1 hit |
Gene3Di | 2.30.29.30, 1 hit |
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 |
PANTHERi | PTHR10807, PTHR10807, 1 hit PTHR10807:SF35, PTHR10807:SF35, 1 hit |
Pfami | View protein in Pfam PF06602, Myotub-related, 1 hit |
SMARTi | View protein in SMART SM00404, PTPc_motif, 1 hit |
SUPFAMi | SSF52799, SSF52799, 1 hit |
PROSITEi | View protein in PROSITE PS51339, PPASE_MYOTUBULARIN, 1 hit PS00383, TYR_PHOSPHATASE_1, 1 hit PS50056, TYR_PHOSPHATASE_2, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | MTMR7_HUMAN | |
Accessioni | Q9Y216Primary (citable) accession number: Q9Y216 Secondary accession number(s): A1L4K9, B4DG87, Q68DX4 | |
Entry historyi | Integrated 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. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 8
Human chromosome 8: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families